I know, stay at home moms don't get sick leave. Neither do bloggers with self-imposed deadlines. I'm really guilty. I didn't forget about Medical Monday, or today's Wednesday Warmer. But for now, you'll have to forgive me and be a bit patient. I'm taking a week off. I have laryngitis, and really don't feel up to do doing much thinking. My brain is foggy and forgetful. I even let the battery of the car run flat and poor hubby had to come and rescue us in the school's parking lot. Sigh. At least Peanut seems much better. Unlike me, she didn't need to go to the dr. I'm on antibiotics now, so I'm sure within a few days I'll be better.
We've drawn Monkeyman's blood, and now just await the pediatrician's call with the results, and the next step. The geneticist asked to see us again, so we have an appointment for in two weeks. Next week is a little school break the whole week (long story). It's like getting an unexpected treat. I'm going to savour it. Rest, and spend time with the kids again. But right now, I'm probably going to go climb back into bed, or just lie with here on the couch where the kids are playing.
Wednesday, April 23, 2014
Friday, April 18, 2014
Family Friday
Well, it's late, but still Friday. I made it! LOL. Didn't think I would. We have one very ill little baby. Slightly feverish, nauseous, awful nappies, runny nose, eyes that constantly tears, poor munchkin. I'm hoping for a bit of an improvement tomorrow, else we'll take her to see the dr.
So this won't be a long post. Just a quick update on a few things.
It's been 3 weeks since Monkeyman got his repeat baby vacs. We wanted to draw the blood, but came upon an empty, locked-up bloodbank. It was just after midday, the day before the Easter weekend was supposed to start, and they closed!! Geesh. Now we have to wait until after this lovely, long weekend. By which time it will be exactly 4 weeks. Sigh. Hope it won't make too big a difference.
There's one sad thing happening that I struggle a bit with. Monkeyman's best little friend is moving away. It's a little girl, a beautiful, sweet, tom-boy of a little girl. They're 3 kids (2 boys) that moved up from the same playschool to the same primary school. And Monkeyman and the little girl ended up being in the same class. I'm so sad for his sake. He'll still have the other boy, and he's made a few other friends as well. Other children tend to like him, so I know he'll be fine. Still, it breaks your heart when your 6-year old's going to go through so much sadness and there's nothing you can do about it. She's moving away to another town on the far side of the country. Impossible to visit, except maybe every 2 years when we go down to that part of the coast for a holiday. It's so so sad.
Boeboe also lost her friend. Again. This makes me even sadder. I just want to cry thinking about her sitting alone breaktime. Her friend decided to make another friend, and now they're a bit mean to Boeboe. When that happened yesterday, she walked away and went to sit at the side of the school next to the parking lot where the teachers' cars were. She counted the number of cars in each colour. How sad is that? I can just imagine her confusion, heartache, pain, sadness, despair. And I don't know what to do. How do I explain to her that her friends doesn't want to play they're little kittens anymore, or catch butterflies or talk about dolls and Barbies and beads. They're not 7 anymore, like Boeboe is emotionally. They're 10, almost 11. They're tweens. They want to discuss boys and dating and makeup and doing one's nails. I was a younger person as my years as well, but in our days, most little girls were. Nowadays though, even if you're lagging behind a year or 2, you'll find yourself alone. When you're lagging behind 3-4 years, you're ostrasized, ridiculed, taunted, dismissed, and pushed away. How sad for Boeboe. It breaks my heart. She's such a caring, empathatic, loyal little girl. She has so much love and kindness to give. It cuts her deep. She's never going to forget this. And I'm scared to what lengths she's going to go to, to get acceptance amongst her peers.
It's Easter weekend, so at least we get to rest and recuperate and discuss how to handle the next few weeks. As soon as I'm better, I'm gonna sit down with Boeboe and talk this through with her. Maybe we can come up with a plan, so that she doesn't need to sit all alone during breaktime.
So this won't be a long post. Just a quick update on a few things.
It's been 3 weeks since Monkeyman got his repeat baby vacs. We wanted to draw the blood, but came upon an empty, locked-up bloodbank. It was just after midday, the day before the Easter weekend was supposed to start, and they closed!! Geesh. Now we have to wait until after this lovely, long weekend. By which time it will be exactly 4 weeks. Sigh. Hope it won't make too big a difference.
There's one sad thing happening that I struggle a bit with. Monkeyman's best little friend is moving away. It's a little girl, a beautiful, sweet, tom-boy of a little girl. They're 3 kids (2 boys) that moved up from the same playschool to the same primary school. And Monkeyman and the little girl ended up being in the same class. I'm so sad for his sake. He'll still have the other boy, and he's made a few other friends as well. Other children tend to like him, so I know he'll be fine. Still, it breaks your heart when your 6-year old's going to go through so much sadness and there's nothing you can do about it. She's moving away to another town on the far side of the country. Impossible to visit, except maybe every 2 years when we go down to that part of the coast for a holiday. It's so so sad.
Boeboe also lost her friend. Again. This makes me even sadder. I just want to cry thinking about her sitting alone breaktime. Her friend decided to make another friend, and now they're a bit mean to Boeboe. When that happened yesterday, she walked away and went to sit at the side of the school next to the parking lot where the teachers' cars were. She counted the number of cars in each colour. How sad is that? I can just imagine her confusion, heartache, pain, sadness, despair. And I don't know what to do. How do I explain to her that her friends doesn't want to play they're little kittens anymore, or catch butterflies or talk about dolls and Barbies and beads. They're not 7 anymore, like Boeboe is emotionally. They're 10, almost 11. They're tweens. They want to discuss boys and dating and makeup and doing one's nails. I was a younger person as my years as well, but in our days, most little girls were. Nowadays though, even if you're lagging behind a year or 2, you'll find yourself alone. When you're lagging behind 3-4 years, you're ostrasized, ridiculed, taunted, dismissed, and pushed away. How sad for Boeboe. It breaks my heart. She's such a caring, empathatic, loyal little girl. She has so much love and kindness to give. It cuts her deep. She's never going to forget this. And I'm scared to what lengths she's going to go to, to get acceptance amongst her peers.
It's Easter weekend, so at least we get to rest and recuperate and discuss how to handle the next few weeks. As soon as I'm better, I'm gonna sit down with Boeboe and talk this through with her. Maybe we can come up with a plan, so that she doesn't need to sit all alone during breaktime.
Thursday, April 17, 2014
Wednesday Warmer
I'm sorry I'm a day late. And that for my very first Wednesday Warmer! I was totally under the impression all day yesterday that today's going to be Wednesday. Somewhere, I lost a day this week. I've been ill. Lost my voice for 3 days - I forgot how frustrating it is when you cannot talk. Anyway, I'm better today, just in time for the Easter long weekend.
So my first Wednesday Warmer will just be a photo.
So my first Wednesday Warmer will just be a photo.
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| Isn't this the most adorable picture ever? Mr N, with Monkeyman shortly after he joined our family. |
Monday, April 14, 2014
Medical Monday
It's difficult for me to get into something, to research something, if it's not on my mind all the time. So I think it's best if I start off with the Medical Monday posts by discussing something that's of interest to me at this point. And as you can imagine, looking into genes gone wrong is what occupies my research time at the moment.
The geneticist believes that Boeboe has a few random genes that got damaged, and different things that went wrong. Either before birth, and/or after birth, I don't know. I haven't researched this option much yet, but from what I did read, I believe that a number of genes next to each other got damaged during conception. What's the chance that, for example, a gene on chromosome 1, a gene on chromosome nr 4, another on nr 11 and another on nr 18, for some inexplicable reason, got damaged. Maybe she inherited them? That would explain it. When I look at the bigger family picure on our side, there is intellectual dissabilities, psychiatric disorders, Spina Bifida occulta, neonatal death, miscarriages, vision problems, heart defects and disease, etc.
So maybe, like the geneticist suggests, Boeboe was just really unlucky, and got all the bad genes from her family. Maybe, she got the bad/damaged gene that caused our family's psychiatric problems, and she just got it worse than anyone else. Maybe she got the bad gene that causes the Spina Bifida Occulta, and she was the really, really unlucky one where it went even futher, and caused a Tethered Cord. Maybe instead of vision problems, her bad gene caused the lack of tears. Maybe she got the gene that caused the learning problems. And so forth.
I does sound plausible, doesn't it? Another option though, like I said, is what if something went wrong with conception. When one copy of every one of the 23 chromosomes from the father merges with one copy of the 23 chromosomes from the mother. The chromosomes break up, rejoins, etc., and this process is very vulnerable to errors. It's quite easy for the one chromosome to rejoin the wrong one. Or to switch wrong-way around. Or to switch places with another piece. Or for a small piece to go missing, or duplicate itself when reattaching. Some of these mistakes causes absolutely no problem. While others would cause a miscarriage. Either before the mom even knew she was pregnant, or a bit later on. Sometimes, the baby lives through pregnancy, and is born. Sometimes at birth, it is clear that something went wrong in the formation. Maybe there's dysmorphic features (eyes that look "different" from the typical child's eyes, or the ears is a little crooked or the baby's head shape is somewhat misshapen). Maybe there's some major birth defects, like a Spina Bifida, a heart defect or a missing thumb or missing limb. Sometimes, there's just one or 2 things that happened to the baby, and it is assumed that at some point during development, those first crucial 12 weeks in pregnancy, something interrupted a process and the defect happened. Like with Spina Bifida.
When a baby have more than 2 birth defects though, and especially when it goes hand in hand with dysmorphic facial features, the doctors start to think that it's not just one process that was interrupted during pregnancy. They start to wonder if there wasn't something wrong with more than one gene that caused the organ or body defect. In this case, they do a chromosomal analysis or such test, to see if they can find the problem on the chromosome that went wrong.
With some of these babies, it's really obvious from the start. Like most babies with Down Syndrome. Or, if not at birth, within a few weeks or months it would become obvious. When the baby doesn't smile by 6 weeks, have head control within a few months, doesn't want to sit by 6 or 7 months, etc. Most babies are diagnosed within a year. Unfortunately, for others, it may take a lot longer. The fault on the chromosome might be so small, that it didn't cause many obvious features. And only with time, would it become clear that there's too many things that went wrong. Leading to genetic tests.
Chromosomal analysis is still in its infant shoes, unfortunately. It's not a very precise field. There's alot of variables influencing this. Family history, chance, environmental influences, hormonal influences, etc. And the tests aren't very good. For example, if you take 100 children that has chromosome problems, only 7% of them (accordingly to our geneticist) will be picked up by chromosomal analysis (looking at the chromosomes with the best microscopes possible). The next best test, a microarray, has a better view of the chromosomes and would see smaller errors than what the chromosomal analysis can. But, it would still only cover about 15% of those 100 children. So 85% of children that has a chromosome problem, will not be diagnosed with today's technology. Hopefully in 10 or 20 years, that figure would look better. Currently, we just have to accept that's as good as it gets. So even if I'm right, and Boeboe has a range of genes on one chromosome that went wrong, she might never get a diagnosis. Or not yet, for the next decade or two.
The reason why I believe Boeboe has a chromosome problem, is because there's just TOO much wrong, with her. Why would one child inherrit EVERY bad gene from both sides of the family, and still have a number of other things that wents wrong as well, like a Tethered Cord, feeding difficulties, developmental delays, speech problems, etc. etc. etc. It's just so many variables that all had to go awry in her, that it feels inprobable to me. Not unlikely, just less likely than one process going wrong with conception. Looking back, I believe that she would've been diagnosed with global development delay because of her delays in speech, social, maturity and some in gross and fine motor development. Global developmental delay doesn't just happen. It usually have a cause in a number of genes.
I believe that when her 46 chromosomes joined up, one of them lost a little piece, or gained another little piece by copying the wrong thing. A tiny piece. Giving rise to all her peculiarities, because that deletion or copied material is in every cell of her body. It's in her heart, her liver, her spleen, her spine, her brain, her feet and her hands. Every cell. Most of the time, it wouldn't matter, because there's still 1 completely normal chromosome inherited from either the mother or father. Sometimes though, you need 2 and only 2 of that chromosome. Too much, or too little, hinders some tiny developments and causes something to go wrong. Like in her tear ducts or tear nerves or where ever that problem arrises from. It just isn't NORMAL for a child NOT to cry tears. It just isn't normal. And extremely rare. In fact, it's so rare, that I daresay that of ALL her diagnoses, this must be THE rarest of them all. Even the occult tethered cord, without Spina Bifida Occulta, that was attached to the dura - that happens in about 1 in a million or so. Maybe even less. Not crying tears is rarer than that. It's so rare, that I struggle to find medical information on it. (Sounds like the perfect Medical Monday subject for another time!)
It's also not NORMAL for a child to develop a tethered cord. Something interrupted the process of closing the neural tube perfectly, like in most human beings. It's also not NORMAL for a child to have language barriers in the brain. It's also not NORMAL for a child to have long fingers with underdeveloped and lax knuckles/joints. It's also not NORMAL for a child to have psychosis from practically birth, and bipolar at age 10. It's not normal for a child to have a placenta completely fail at 37 weeks, turning black, causing even the gynae to exclaim in surprise. It's not normal for a child to struggle to breath and maintain temperature after birth at 37 weeks. Etc. I can go on and on, you get the picture. Too many abnormal things in Boeboe. Too many things went wrong in one child.
So, I've started to study chromosome disorders. The rarechromo.org website (also called Unique) is absolutely amazing, and has written guides on all the different things that can go awry (or most of them). And I've been reading many, many hours. From everything I've read, Boeboe perfectly matches a chromosome disorder. The way she developed, the delays, the way those delays presented, everything matches perfectly. Just 2 things throws a stick into the wheel. One is that she has an average IQ. By far the most chromosomal disorders comes with a low IQ of 70 and under. Because of the effect a mistake on the chromosome will have on the brain. The second thing is that Boeboe is what I'd call a very mild case, compared to what chromosome disorders does to kids. She didn't get Spina Bifida, she got an occult tethered cord. She didn't get eyes that never even developed, or a severe squint, she got a mild squint that corrected itself and tears that's absent. She didn't get eye lids that's visibly deformed at birth, she got eye lids that's a bit hooded. She didn't get a missing kidney or a malfunctioning one. No, she just got one that's a bit misshapen. A curiosity, that's all. She didn't get severe delays, no, all her delays are mild (except arguably the emotional delay). She has the lightest case of dropfoot possible. She has a very mild in-toe. She did admittedly have one of the worst neurogenic bladders, with pressures about 4 or 5 times what was normal, but that was due to the tethered cord. Overall, she's just a very mild case of not being normal. Hard enough to live with, but in medical terms - just mild.
That's why I say, I think she has a microdeletion or -duplication on one of her chromosomes. A very, very small piece. That caused all of these defects and delays in Boeboe. It might be so small, that no current test available will be able to pick it up. The effect of it though, on our family, isn't so small. We struggle. Life hasn't been easy, and probably will never be easy with Boeboe in our lives. We worry about her and her future. And we have cried many tears because of the difficulties she faces every day in her life.
From what I've read, I believe that there's 3 possibilities that matches the picture of Boeboe. I haven't researched all chromosomes or problems just yet. Not by a long shot. So there's most likely others. So this is just a discussion about possibilities. I don't believe, yet, that Boeboe must have one of these. They've just piqued my interest, for various reasons. The first, is 16p duplication. The second is 17p duplications. And the last is 22q11.2 duplication. This last one is interesting, since it is the exact same region that they've tested Boeboe for, as having a deletion. Thus, I doubt if they would've missed a duplication on there while searching for a deletion.
It'll take too long to go into all 3, so maybe for a start, let me just go into 16p for a bit. Here's the list of symptoms, signs and comments from parents whose children was diagnosed with a 16p11.2 duplication. Remember, this duplication could be really small, or a little bigger. Also, some could be on the 11th band, while others would be on the 13th band, for example. I'm just looking at the 11.2 duplication at this point in time, because it will be easier and shorter, else I'll be typing away until the end of the week. Maybe at a later stage I can go into the other possibilities of 16p duplication. I'm just going to bulletpoint some things for easy reading. Most of these information was taken from the www.rarechromo.org site.
So here's the most common features (a child can have none, one or all of these, in various degrees of severity, from very mild to severe):
Parents may notice that their baby isn’t babbling or their toddler isn’t saying words. (Boeboe never babbled as a baby, rarely made any sounds and was very late and slow developing speech.)
Delay in reaching baby milestones is apparently common although not among Unique members who generally sat, crawled and walked close to the expected age. (Boeboe was late with smiling and other milestones, and a tiny bit late with sitting and crawling. She walked around 14-15 months, which is at the upper side of normal, I believe.)
Some babies, although not all, have a low muscle tone and feel floppy to hold; this hypotonia is one of the causes of their slow progress in reaching their mobility milestones. (Boeboe was diagnosed with low muscle tone in her upper body, and this was addressed by therapy before primary school. She was definitely much more "floppy" as a baby than her brother, but I thought it was due to her much lower birth weight.)
Some also have unusually bendy [lax] joints which may need support as they learn to move and walk.
(Boeboe has lax joints in her hands and fingers. I'll take pics of this at some point. It might be one of the reasons why her hand writing is so atrocious, and why she struggled with some of her fine motor control.)
Typically, intellectual ability ranges from normal to a mild delay and where an IQ has been measured it has fallen within the 50-110 range, with 100 representing the average for the general population.
However, this probably underestimates the range of ability, since IQ testing would be more likely for people with developmental delays than for people with the microduplication and no delays.
(Boeboe falls into this typical ability.)
Depending on local schools, some children start their education in a mainstream setting, usually working within a small group and moving to a more supportive learning environment to complete their education.
(Boeboe is in mainstream, with ALOT of hard work, an individual plan, extra teacher support, extra classes and time and planning conscessions in exams. We also request alot of extra help from the teachers, and all of this has surprised everyone with how much it has helped Boeboe. Her teacher today said we should not write highschool off just yet!! I was so happy to hear that. Though, it's the psychiatrist's opinion that Boeboe's anxieties might be too overwhelming in a formal highschool setting. We'll have to see.)
Various studies have found mood or behaviour difficulties in a minority of young people with a 16p11.2 microduplication. Most commonly children are overactive with a short attention span [ADHD/ attention deficit hyperactivity disorder] but other types of behaviour difficulty have been found. ADHD has been identified in 2/7 Unique children.
(Boeboe does not have ADHD, but she definitely have behaviour difficulties.)
One boy of 15 had an anxiety disorder that responded well to medication and in one study 4/10 youngsters had outbursts of aggression.
(Boeboe has outbursts of aggression/anger, and is treated currently for general and separation anxiety disorders.)
The typical 16p11.2 microduplication is found more often among children and adults diagnosed with autism or a disorder on the autistic spectrum such as Asperger syndrome than among the general population. Yet only a minority of people with the microduplication has autism or autistic features. Autistic traits have been observed in around half of Unique members, all male.
(Boeboe has been diagnosed as having autistic traits.)
The typical 16p11.2 microduplication is found more often among children and adults diagnosed with mental health problems than among the general population. Yet only a minority of people with the microduplication has a mental health problem. Anxiety, depression, bipolar disorder and particularly schizophrenia have been found.
(Boeboe has anxiety, bipolar disorder and psychosis.)
Some babies with a 16p11.2 microduplication are born completely healthy. Others have a birth defect which can be quite minor or more serious. Here's list of some birth defects that was found.
Most children with a 16p11.2 microduplication have never had a seizure or a seizurelike episode. All the same, a minority - up to around 15% - have. This has led to the suggestion that there is an association between the microduplication and a vulnerability to seizures, although seizure types and severity vary widely. Typically, they start under 12 months of age, are easily controlled with anti-epileptic medication and tend to resolve or decrease in severity during childhood. (Boeboe has not had any seizures. Her eldest brother has. It started around 3-4 years, I believe, was very easily controlled with anti-epileptic medication, and it resolved around age 11-12.)
OK, so I've typed a way too long first Medical Monday post. Hopefully some of them will be shorter in the future. This has helped me though, ordering some of my thoughts and believes. I just received an email from the geneticist, wanting to know when we can come and see her. I was hoping my research would be finished before we go. I guess I'll have to step it up, if I want to have a better idea of what I believe Boeboe might have.
The geneticist believes that Boeboe has a few random genes that got damaged, and different things that went wrong. Either before birth, and/or after birth, I don't know. I haven't researched this option much yet, but from what I did read, I believe that a number of genes next to each other got damaged during conception. What's the chance that, for example, a gene on chromosome 1, a gene on chromosome nr 4, another on nr 11 and another on nr 18, for some inexplicable reason, got damaged. Maybe she inherited them? That would explain it. When I look at the bigger family picure on our side, there is intellectual dissabilities, psychiatric disorders, Spina Bifida occulta, neonatal death, miscarriages, vision problems, heart defects and disease, etc.
So maybe, like the geneticist suggests, Boeboe was just really unlucky, and got all the bad genes from her family. Maybe, she got the bad/damaged gene that caused our family's psychiatric problems, and she just got it worse than anyone else. Maybe she got the bad gene that causes the Spina Bifida Occulta, and she was the really, really unlucky one where it went even futher, and caused a Tethered Cord. Maybe instead of vision problems, her bad gene caused the lack of tears. Maybe she got the gene that caused the learning problems. And so forth.
I does sound plausible, doesn't it? Another option though, like I said, is what if something went wrong with conception. When one copy of every one of the 23 chromosomes from the father merges with one copy of the 23 chromosomes from the mother. The chromosomes break up, rejoins, etc., and this process is very vulnerable to errors. It's quite easy for the one chromosome to rejoin the wrong one. Or to switch wrong-way around. Or to switch places with another piece. Or for a small piece to go missing, or duplicate itself when reattaching. Some of these mistakes causes absolutely no problem. While others would cause a miscarriage. Either before the mom even knew she was pregnant, or a bit later on. Sometimes, the baby lives through pregnancy, and is born. Sometimes at birth, it is clear that something went wrong in the formation. Maybe there's dysmorphic features (eyes that look "different" from the typical child's eyes, or the ears is a little crooked or the baby's head shape is somewhat misshapen). Maybe there's some major birth defects, like a Spina Bifida, a heart defect or a missing thumb or missing limb. Sometimes, there's just one or 2 things that happened to the baby, and it is assumed that at some point during development, those first crucial 12 weeks in pregnancy, something interrupted a process and the defect happened. Like with Spina Bifida.
When a baby have more than 2 birth defects though, and especially when it goes hand in hand with dysmorphic facial features, the doctors start to think that it's not just one process that was interrupted during pregnancy. They start to wonder if there wasn't something wrong with more than one gene that caused the organ or body defect. In this case, they do a chromosomal analysis or such test, to see if they can find the problem on the chromosome that went wrong.
With some of these babies, it's really obvious from the start. Like most babies with Down Syndrome. Or, if not at birth, within a few weeks or months it would become obvious. When the baby doesn't smile by 6 weeks, have head control within a few months, doesn't want to sit by 6 or 7 months, etc. Most babies are diagnosed within a year. Unfortunately, for others, it may take a lot longer. The fault on the chromosome might be so small, that it didn't cause many obvious features. And only with time, would it become clear that there's too many things that went wrong. Leading to genetic tests.
Chromosomal analysis is still in its infant shoes, unfortunately. It's not a very precise field. There's alot of variables influencing this. Family history, chance, environmental influences, hormonal influences, etc. And the tests aren't very good. For example, if you take 100 children that has chromosome problems, only 7% of them (accordingly to our geneticist) will be picked up by chromosomal analysis (looking at the chromosomes with the best microscopes possible). The next best test, a microarray, has a better view of the chromosomes and would see smaller errors than what the chromosomal analysis can. But, it would still only cover about 15% of those 100 children. So 85% of children that has a chromosome problem, will not be diagnosed with today's technology. Hopefully in 10 or 20 years, that figure would look better. Currently, we just have to accept that's as good as it gets. So even if I'm right, and Boeboe has a range of genes on one chromosome that went wrong, she might never get a diagnosis. Or not yet, for the next decade or two.
The reason why I believe Boeboe has a chromosome problem, is because there's just TOO much wrong, with her. Why would one child inherrit EVERY bad gene from both sides of the family, and still have a number of other things that wents wrong as well, like a Tethered Cord, feeding difficulties, developmental delays, speech problems, etc. etc. etc. It's just so many variables that all had to go awry in her, that it feels inprobable to me. Not unlikely, just less likely than one process going wrong with conception. Looking back, I believe that she would've been diagnosed with global development delay because of her delays in speech, social, maturity and some in gross and fine motor development. Global developmental delay doesn't just happen. It usually have a cause in a number of genes.
I believe that when her 46 chromosomes joined up, one of them lost a little piece, or gained another little piece by copying the wrong thing. A tiny piece. Giving rise to all her peculiarities, because that deletion or copied material is in every cell of her body. It's in her heart, her liver, her spleen, her spine, her brain, her feet and her hands. Every cell. Most of the time, it wouldn't matter, because there's still 1 completely normal chromosome inherited from either the mother or father. Sometimes though, you need 2 and only 2 of that chromosome. Too much, or too little, hinders some tiny developments and causes something to go wrong. Like in her tear ducts or tear nerves or where ever that problem arrises from. It just isn't NORMAL for a child NOT to cry tears. It just isn't normal. And extremely rare. In fact, it's so rare, that I daresay that of ALL her diagnoses, this must be THE rarest of them all. Even the occult tethered cord, without Spina Bifida Occulta, that was attached to the dura - that happens in about 1 in a million or so. Maybe even less. Not crying tears is rarer than that. It's so rare, that I struggle to find medical information on it. (Sounds like the perfect Medical Monday subject for another time!)
It's also not NORMAL for a child to develop a tethered cord. Something interrupted the process of closing the neural tube perfectly, like in most human beings. It's also not NORMAL for a child to have language barriers in the brain. It's also not NORMAL for a child to have long fingers with underdeveloped and lax knuckles/joints. It's also not NORMAL for a child to have psychosis from practically birth, and bipolar at age 10. It's not normal for a child to have a placenta completely fail at 37 weeks, turning black, causing even the gynae to exclaim in surprise. It's not normal for a child to struggle to breath and maintain temperature after birth at 37 weeks. Etc. I can go on and on, you get the picture. Too many abnormal things in Boeboe. Too many things went wrong in one child.
So, I've started to study chromosome disorders. The rarechromo.org website (also called Unique) is absolutely amazing, and has written guides on all the different things that can go awry (or most of them). And I've been reading many, many hours. From everything I've read, Boeboe perfectly matches a chromosome disorder. The way she developed, the delays, the way those delays presented, everything matches perfectly. Just 2 things throws a stick into the wheel. One is that she has an average IQ. By far the most chromosomal disorders comes with a low IQ of 70 and under. Because of the effect a mistake on the chromosome will have on the brain. The second thing is that Boeboe is what I'd call a very mild case, compared to what chromosome disorders does to kids. She didn't get Spina Bifida, she got an occult tethered cord. She didn't get eyes that never even developed, or a severe squint, she got a mild squint that corrected itself and tears that's absent. She didn't get eye lids that's visibly deformed at birth, she got eye lids that's a bit hooded. She didn't get a missing kidney or a malfunctioning one. No, she just got one that's a bit misshapen. A curiosity, that's all. She didn't get severe delays, no, all her delays are mild (except arguably the emotional delay). She has the lightest case of dropfoot possible. She has a very mild in-toe. She did admittedly have one of the worst neurogenic bladders, with pressures about 4 or 5 times what was normal, but that was due to the tethered cord. Overall, she's just a very mild case of not being normal. Hard enough to live with, but in medical terms - just mild.
That's why I say, I think she has a microdeletion or -duplication on one of her chromosomes. A very, very small piece. That caused all of these defects and delays in Boeboe. It might be so small, that no current test available will be able to pick it up. The effect of it though, on our family, isn't so small. We struggle. Life hasn't been easy, and probably will never be easy with Boeboe in our lives. We worry about her and her future. And we have cried many tears because of the difficulties she faces every day in her life.
From what I've read, I believe that there's 3 possibilities that matches the picture of Boeboe. I haven't researched all chromosomes or problems just yet. Not by a long shot. So there's most likely others. So this is just a discussion about possibilities. I don't believe, yet, that Boeboe must have one of these. They've just piqued my interest, for various reasons. The first, is 16p duplication. The second is 17p duplications. And the last is 22q11.2 duplication. This last one is interesting, since it is the exact same region that they've tested Boeboe for, as having a deletion. Thus, I doubt if they would've missed a duplication on there while searching for a deletion.
It'll take too long to go into all 3, so maybe for a start, let me just go into 16p for a bit. Here's the list of symptoms, signs and comments from parents whose children was diagnosed with a 16p11.2 duplication. Remember, this duplication could be really small, or a little bigger. Also, some could be on the 11th band, while others would be on the 13th band, for example. I'm just looking at the 11.2 duplication at this point in time, because it will be easier and shorter, else I'll be typing away until the end of the week. Maybe at a later stage I can go into the other possibilities of 16p duplication. I'm just going to bulletpoint some things for easy reading. Most of these information was taken from the www.rarechromo.org site.
- Some parents, brothers and sisters of children with a 16p11.2 microduplication have the same microduplication but do not have any obvious unusual features or delayed development. Some people with a 16p11.2 microduplication seem completely unaffected by it. Others have some problems with their development, speech, behaviour, learning or health that may be caused by the extra genetic material (This is a very rare thing with a chromosome problem, which is what caught my attention first. So the fact that Boeboe's not as bad off as some other children, will fit in perfectly with this duplication.)
- The signs in others with the duplication are so subtle that you would hardly notice. Some children with a 16p11.2 microduplication also develop normally. The effect on development, health and behaviour of some genetic disorders ranges from being barely perceptible to being obvious and severe. There is a lot of variation even between different members of the same family who have the same microduplication.
- It’s estimated that for every 10,000 people in the general population, three have a 16p11.2 microduplication. It’s slightly more common among people who have a language or psychiatric disorder, being found in four per 10,000 people. If these estimates are correct, 16p11.2 microduplications are not really rare. (Like I said, Boeboe was already a 1 in a million child to have a certain condition, so to be one of 3 or 4 in 10 000 to have something, is very much possible.)
So here's the most common features (a child can have none, one or all of these, in various degrees of severity, from very mild to severe):
- Delay in starting to speak and in language development (Boeboe has this)
- Possibly very minor unusual facial or physical features (Boeboe has this)
- Some delay in learning to sit, move and walk (Boeboe had this)
- Some need for support with learning (Boeboe has this)
- Increased likelihood of difficult behaviour (Boeboe has this)
- Increased susceptibility to autism or an autism spectrum disorder (Boeboe has autistic traits)
- Increased susceptibility to mental health problems (Boeboe has this)
- In a few, a birth defect that might cause health problems (Boeboe has a couple of these)
- Possible tendency to underweight (Boeboe has this - she's the smallest in her class)
- Possible vulnerability to seizures
So as you can see, Boeboe has just about every possible symptom for 16p11.2 duplication. The only one she never had, was seizures. She had an EEG, and as far as I know, it was clean.
So here's a few notes about children with 16p11.2. As usual, I'm putting my opinion on Boeboe in italics and brackets.
Parents may notice that their baby isn’t babbling or their toddler isn’t saying words. (Boeboe never babbled as a baby, rarely made any sounds and was very late and slow developing speech.)
Your child with a 16p11.2 microduplication will most likely look much like other members of your family. They may well have one or two unusual facial features but these won’t necessarily be the same in others with a 16p11.2 microduplication. There isn’t a typical 16p11.2 microduplication ‘look’ and overall, your child is unlikely to stand out facially from other people. Some people but certainly not all have a slightly small head. (Boeboe has a very small head (3rd percentile), and a number of non-specific dysmorphic features. Thus, there's some dysmorphisms, but it doesn't point to a specific syndrome, like a baby with Down Syndrome would have.)
Delay in reaching baby milestones is apparently common although not among Unique members who generally sat, crawled and walked close to the expected age. (Boeboe was late with smiling and other milestones, and a tiny bit late with sitting and crawling. She walked around 14-15 months, which is at the upper side of normal, I believe.)
Some babies, although not all, have a low muscle tone and feel floppy to hold; this hypotonia is one of the causes of their slow progress in reaching their mobility milestones. (Boeboe was diagnosed with low muscle tone in her upper body, and this was addressed by therapy before primary school. She was definitely much more "floppy" as a baby than her brother, but I thought it was due to her much lower birth weight.)
Some also have unusually bendy [lax] joints which may need support as they learn to move and walk.
(Boeboe has lax joints in her hands and fingers. I'll take pics of this at some point. It might be one of the reasons why her hand writing is so atrocious, and why she struggled with some of her fine motor control.)
Typically, intellectual ability ranges from normal to a mild delay and where an IQ has been measured it has fallen within the 50-110 range, with 100 representing the average for the general population.
However, this probably underestimates the range of ability, since IQ testing would be more likely for people with developmental delays than for people with the microduplication and no delays.
(Boeboe falls into this typical ability.)
Depending on local schools, some children start their education in a mainstream setting, usually working within a small group and moving to a more supportive learning environment to complete their education.
(Boeboe is in mainstream, with ALOT of hard work, an individual plan, extra teacher support, extra classes and time and planning conscessions in exams. We also request alot of extra help from the teachers, and all of this has surprised everyone with how much it has helped Boeboe. Her teacher today said we should not write highschool off just yet!! I was so happy to hear that. Though, it's the psychiatrist's opinion that Boeboe's anxieties might be too overwhelming in a formal highschool setting. We'll have to see.)
Various studies have found mood or behaviour difficulties in a minority of young people with a 16p11.2 microduplication. Most commonly children are overactive with a short attention span [ADHD/ attention deficit hyperactivity disorder] but other types of behaviour difficulty have been found. ADHD has been identified in 2/7 Unique children.
(Boeboe does not have ADHD, but she definitely have behaviour difficulties.)
One boy of 15 had an anxiety disorder that responded well to medication and in one study 4/10 youngsters had outbursts of aggression.
(Boeboe has outbursts of aggression/anger, and is treated currently for general and separation anxiety disorders.)
The typical 16p11.2 microduplication is found more often among children and adults diagnosed with autism or a disorder on the autistic spectrum such as Asperger syndrome than among the general population. Yet only a minority of people with the microduplication has autism or autistic features. Autistic traits have been observed in around half of Unique members, all male.
(Boeboe has been diagnosed as having autistic traits.)
The typical 16p11.2 microduplication is found more often among children and adults diagnosed with mental health problems than among the general population. Yet only a minority of people with the microduplication has a mental health problem. Anxiety, depression, bipolar disorder and particularly schizophrenia have been found.
(Boeboe has anxiety, bipolar disorder and psychosis.)
Some babies with a 16p11.2 microduplication are born completely healthy. Others have a birth defect which can be quite minor or more serious. Here's list of some birth defects that was found.
- Two babies were born with a diaphragmatic hernia. (Obviously Boeboe hasn't had this.)
- Two babies were also born with a cleft palate [an opening in the roof of the mouth, usually closed surgically], and one of these babies had a cleft lip as well. (Boeboe doesn't have this.)
- On investigation, five/28 people with the microduplication have some anomaly of the brain structure that shows on magnetic resonance imaging [MRI]. (Boeboe's brain MRI was normal.)
- In four babies the kidneys and drainage system for urine were affected. One baby has a ‘horseshoe kidney’, where the bottom points of the two usually separate kidneys are joined, creating a U [horseshoe] shape. Another baby has a double set of tubes leading from the kidneys. Two babies had kidney reflux, where urine flows back from the bladder towards the kidneys. (Boeboe has a misshapen kidney, as well as a narrowed urether that had to be dilated surgically.)
- Two babies were born with unusually-shaped chests. In one it was hollowed [pectus excavatum] and another baby was born with a ‘pigeon chest’ [pectus carinatum]. (Boeboe, and her brother, has a very mild hollow that I believe might be pectus excavatum.)
- In three babies the spine was affected, but in quite different ways. One baby had spinal cord cysts [syringomelia]; another had a ‘tethered cord’, where the bottom end of the spinal cord that is usually free within the spinal column gets attached to one of the surrounding structures. If necessary the cord can be surgically released so that it can hang freely. Another had a curved spine [scoliosis]. (As you know, Boeboe had a tethered cord, surgically released.)
- One baby boy was born with hypospadias. (Obviously Boeboe didn't have this.)
- In one baby the heart was affected. (As far as we know, her heart is normal.)
- One baby had malrotation of the intestines.
Most children with a 16p11.2 microduplication have never had a seizure or a seizurelike episode. All the same, a minority - up to around 15% - have. This has led to the suggestion that there is an association between the microduplication and a vulnerability to seizures, although seizure types and severity vary widely. Typically, they start under 12 months of age, are easily controlled with anti-epileptic medication and tend to resolve or decrease in severity during childhood. (Boeboe has not had any seizures. Her eldest brother has. It started around 3-4 years, I believe, was very easily controlled with anti-epileptic medication, and it resolved around age 11-12.)
OK, so I've typed a way too long first Medical Monday post. Hopefully some of them will be shorter in the future. This has helped me though, ordering some of my thoughts and believes. I just received an email from the geneticist, wanting to know when we can come and see her. I was hoping my research would be finished before we go. I guess I'll have to step it up, if I want to have a better idea of what I believe Boeboe might have.
Saturday, April 12, 2014
Structure
That's what I decided I need. I think I've hit rockbottom (with my last moan - sorry, post), and now I'm on my way up. I'm sorry I've used this blog as my sounding board, but maybe that's exactly what I needed. Today, the sun is shining and I realise that even though life isn't easy, there's so much to be grateful for. And so many people have it way much worse than I do. I stumbled upon a mom's blog and her daughter has had to go through so very, very much. Due to a chromosomal defect. And life for the little girl will never be easy. She can't see or hear. Still, she's clearly loved so very much, and she's happy. Really happy. Isn't that what we all want, in the end, for our children? For them to be loved and be happy? This mom has a beautiful writing style, and I found myself reading until the early morning hours. But what really got me thinking, was that despite the fact that the early years after the little girl's birth, had this tangible sadness threaded through their lives, the mom never moaned and complained and went on and on about how awful all of it is. Of course she vented, and of course she sometimes despaired and wondered what life will bring, and if she's doing right by her daughter and other children. But she had this happy and contend disposition that came through on her blog. She accepted life as it is, and she had faith every step of the way.
Of course there's still moments I want to cry, but there's no need to sit and dwell on it anymore like I've been doing for months now. I think in some ways it's easier to have had a diagnosis from birth. To have the support of all the specialists without the need to fight to get it. To have a set of expectations of what the diagnosis will mean for the future. To have stats on what's likely to happen or not. To have the support of other parents going through the same (kind of) thing. To be able to demand what we need from the school, without feeling like you're throwing your child under the bus by telling them about all of her peculiarities. To know which anomalies, symptoms and signs to look out for, and which ones belong to the diagnsis, and which ones you need to look into futher. To address those separately. To look at studies on how language develops in such cases, and what I can do to help Boeboe with the barriers in her brain.
I think it must be exceptionally hard to hear that your teeny tiny baby has this huge defect in every little cell of her body. And the fear of the future must be overwhelming. Still, I sometimes envy the parents that has that at birth. I lived in blissfull ignorance (or tried to, you learn to squash that little voice inside your head, but never completely succeeds). But now, 10 years down the line, I have to fight to get anywhere. Life is extremely difficult for the mommies that knew from the start. But after 3 or 4 years, it tends to get easier. Because they have acceptance, and things are put in place from the start. To try and raise your child normally, when you can see it's not working, but have no support or structures in place to help you and guide you and support you... To not know - are you doing your child a favour by raising her normally, if she might not be? And what if you start to accept she isn't, like move her to special ed, have less expectations, treat her behaviour difficulties differently, etc. and then find out, oh, but there's just absolutely nothing wrong and you were all just imagining things all along. What's worse? On the child? What's best? I personally, at this moment in time, wish I had the answers. I wish we had a diagnosis. And not stumbling in the dark like we're doing now.
Boeboe's problem, like always, has been that she's just never worse enough. Like her tethered cord. Not only didn't she have any of the outside markers, she also didn't have it bad enough to show up on MRI. No, she had to have the lightest case of it all. Yes, I'm grateful, of course, but that made things so much more difficult on her and us.
When she had sleep apnea, I believe that in the USA/Europe, she would've been admitted into hospital and monitored for a few nights to get to the bottom of it. But no, our pead looked her over, declared that it might be SIDS and that we'll just have to keep her on the breathing monitor. That's reactive, not proactive. Typical of South Africa's private health care. So I did that. I accepted that. When she didn't suck well, the blame was put on my body not supplying her with enough. Apparently, without even monitoring it, I must've had a supply issue, the pead said. Again, I accepted the blame. When she didn't smile for more than 9 weeks, I was told some babies are just late. When she weighed less than 7kg at age 1, I was told she's a tiny thing like her mommy. When she couldn't eat fingerfood until long after 18 months, I was told I'm spoiling her by giving her blended food. When she gagged when drinking fluids, I was told she shouldn't have had breastmilk for so long, now she's spoiled.
When she didn't speak for years, and not clearly until she was almost 5, again we were told "it's because she has an older sibling that speaks for her" or "some children are just lazy", etc. When she had the urinary symptoms, I was told she's naughty (by this same pead). Ag, I can go on and on and on. Bottom line is that the doctors failed us, I believe. Because Boeboe was never bad enough off to get their attention. The snapshot they saw when I took her in for an evaluation, wasn't enough to raise concerns. She grew, albeit slowly. She developed, albeit slowly. She was healthy and seemingly fine.
Maybe if she took 6 months for head control, or didn't sit until after her 1st birthday, or couldn't walk at all for 2+ years, then the doctors would've acknowledge that there indeed is something wrong. But having a child that just does everything at the very late end of normal, was still just that, in their eyes. Normal. And what mommy wouldn't be relieved when you're told it's normal for a baby to only start to sit unaided (for 1 second) after therapy, at 8 months. And that it's perfectly normal for a baby to not say more than a handful (badly pronounced) words at age 2. Or that it's normal for a child to fall down numerous times a day or have hypotonia in the upper body or have late development of the hip socket. And I understand that. Boeboe was at the late end of normal. It's just, when you're always late with everything... always at the bottom range. Always the shortest. The smallest head. The last to walk or sit. The last to talk. The last to be able to memorise time tables. The last to finish the work in school. The last to be able to read. Always at the bottom range - doesn't that throw up red flags? Why didn't the doctors SEE this? Why does a child need to be totally out of the range, before they'll believe there's something? What about those bottom range crawlers? Is it okay to ignore them?
If you have a child that develops socially normally, but physically she's slow, academically she's doing well but lagging behind in one or two physical areas. Then you say, "just give the child time, he'll catch up, he's fine". Or for a child that's advanced academically, gross motor development is on par, etc. But socially he's lagging, exactly like Monkeyman, you say "oh, ag, he just need more security for longer, he's fine". But when you have a child that's lagging physically, lagging emotionally, lagging socially, lagging academically, lagging in gross and fine motor development, then shouldn't you start to wonder? Even when those lags are still within the normal ranges, albeit at the very very bottom of it? If it's across the board, shouldn't you realise there's more to it?
Partly, I guess it's my fault. I should've realised and do something about it sooner. I accept that blame. I should've been on the doctors' case, been in the rooms every second day when she had sleep apnea, until they could tell me why. Or when she refused fluids other than breastmilk for 2 years. I should've told them time and time again there's something wrong until they believed me. But, being a mommy, I refused to believe there really could still be something wrong. When she was released from NICU, I so desperately wanted her to just be okay.
And she will be okay. We just need help, and I'm going to fight for that help. I've accepted now that things aren't rosy coloured anymore. I'm getting out of this groove, and I'm doing what I should've done 10 years ago already. I'm arming myself with information, and I'm fighting for help.
I decided I need structure to get my life into some order and routine to get out of this slump I find myself in. I'm making some changes in my life, and I decided to include the blog on that. To give myself some goals.
I'm going to challenge myself to three things on this blog. For a month at first, as a trial. One is, (and I'm copying this from some other blogs) Medical Mondays. I'm gonna use the blog to sort through my thoughts, discuss my favourite subjects and the research I've done on it, etc. In the beginning I'll probably concentrate on the issues my children/family have, but I may digress as I come across other interesting topics.
Secondly, I'm gonna have Wednesday Warmer. For the winter that lays ahead (in our country!). I hate winter! In any case, on Wednesdays I'm gonna have a short post with something that warms my heart. Whether it's a photo of one of the kids, a milestone of Peanut or a picture on the internet that touched my heart, or even just a quote.
And lastly, on Friday's, I'm gonna have a post to give an update on one or more of the children. Good or bad, just a quick post to let everyone know where we are in the different processes, or what's up in our lives. I'll post in between as well if something important happens, of course. Having these 3 goals for the week would challenge me. Maybe keep me sane. :-) Like the saying - fake it till you make it!
Of course there's still moments I want to cry, but there's no need to sit and dwell on it anymore like I've been doing for months now. I think in some ways it's easier to have had a diagnosis from birth. To have the support of all the specialists without the need to fight to get it. To have a set of expectations of what the diagnosis will mean for the future. To have stats on what's likely to happen or not. To have the support of other parents going through the same (kind of) thing. To be able to demand what we need from the school, without feeling like you're throwing your child under the bus by telling them about all of her peculiarities. To know which anomalies, symptoms and signs to look out for, and which ones belong to the diagnsis, and which ones you need to look into futher. To address those separately. To look at studies on how language develops in such cases, and what I can do to help Boeboe with the barriers in her brain.
I think it must be exceptionally hard to hear that your teeny tiny baby has this huge defect in every little cell of her body. And the fear of the future must be overwhelming. Still, I sometimes envy the parents that has that at birth. I lived in blissfull ignorance (or tried to, you learn to squash that little voice inside your head, but never completely succeeds). But now, 10 years down the line, I have to fight to get anywhere. Life is extremely difficult for the mommies that knew from the start. But after 3 or 4 years, it tends to get easier. Because they have acceptance, and things are put in place from the start. To try and raise your child normally, when you can see it's not working, but have no support or structures in place to help you and guide you and support you... To not know - are you doing your child a favour by raising her normally, if she might not be? And what if you start to accept she isn't, like move her to special ed, have less expectations, treat her behaviour difficulties differently, etc. and then find out, oh, but there's just absolutely nothing wrong and you were all just imagining things all along. What's worse? On the child? What's best? I personally, at this moment in time, wish I had the answers. I wish we had a diagnosis. And not stumbling in the dark like we're doing now.
Boeboe's problem, like always, has been that she's just never worse enough. Like her tethered cord. Not only didn't she have any of the outside markers, she also didn't have it bad enough to show up on MRI. No, she had to have the lightest case of it all. Yes, I'm grateful, of course, but that made things so much more difficult on her and us.
When she had sleep apnea, I believe that in the USA/Europe, she would've been admitted into hospital and monitored for a few nights to get to the bottom of it. But no, our pead looked her over, declared that it might be SIDS and that we'll just have to keep her on the breathing monitor. That's reactive, not proactive. Typical of South Africa's private health care. So I did that. I accepted that. When she didn't suck well, the blame was put on my body not supplying her with enough. Apparently, without even monitoring it, I must've had a supply issue, the pead said. Again, I accepted the blame. When she didn't smile for more than 9 weeks, I was told some babies are just late. When she weighed less than 7kg at age 1, I was told she's a tiny thing like her mommy. When she couldn't eat fingerfood until long after 18 months, I was told I'm spoiling her by giving her blended food. When she gagged when drinking fluids, I was told she shouldn't have had breastmilk for so long, now she's spoiled.
When she didn't speak for years, and not clearly until she was almost 5, again we were told "it's because she has an older sibling that speaks for her" or "some children are just lazy", etc. When she had the urinary symptoms, I was told she's naughty (by this same pead). Ag, I can go on and on and on. Bottom line is that the doctors failed us, I believe. Because Boeboe was never bad enough off to get their attention. The snapshot they saw when I took her in for an evaluation, wasn't enough to raise concerns. She grew, albeit slowly. She developed, albeit slowly. She was healthy and seemingly fine.
Maybe if she took 6 months for head control, or didn't sit until after her 1st birthday, or couldn't walk at all for 2+ years, then the doctors would've acknowledge that there indeed is something wrong. But having a child that just does everything at the very late end of normal, was still just that, in their eyes. Normal. And what mommy wouldn't be relieved when you're told it's normal for a baby to only start to sit unaided (for 1 second) after therapy, at 8 months. And that it's perfectly normal for a baby to not say more than a handful (badly pronounced) words at age 2. Or that it's normal for a child to fall down numerous times a day or have hypotonia in the upper body or have late development of the hip socket. And I understand that. Boeboe was at the late end of normal. It's just, when you're always late with everything... always at the bottom range. Always the shortest. The smallest head. The last to walk or sit. The last to talk. The last to be able to memorise time tables. The last to finish the work in school. The last to be able to read. Always at the bottom range - doesn't that throw up red flags? Why didn't the doctors SEE this? Why does a child need to be totally out of the range, before they'll believe there's something? What about those bottom range crawlers? Is it okay to ignore them?
If you have a child that develops socially normally, but physically she's slow, academically she's doing well but lagging behind in one or two physical areas. Then you say, "just give the child time, he'll catch up, he's fine". Or for a child that's advanced academically, gross motor development is on par, etc. But socially he's lagging, exactly like Monkeyman, you say "oh, ag, he just need more security for longer, he's fine". But when you have a child that's lagging physically, lagging emotionally, lagging socially, lagging academically, lagging in gross and fine motor development, then shouldn't you start to wonder? Even when those lags are still within the normal ranges, albeit at the very very bottom of it? If it's across the board, shouldn't you realise there's more to it?
Partly, I guess it's my fault. I should've realised and do something about it sooner. I accept that blame. I should've been on the doctors' case, been in the rooms every second day when she had sleep apnea, until they could tell me why. Or when she refused fluids other than breastmilk for 2 years. I should've told them time and time again there's something wrong until they believed me. But, being a mommy, I refused to believe there really could still be something wrong. When she was released from NICU, I so desperately wanted her to just be okay.
And she will be okay. We just need help, and I'm going to fight for that help. I've accepted now that things aren't rosy coloured anymore. I'm getting out of this groove, and I'm doing what I should've done 10 years ago already. I'm arming myself with information, and I'm fighting for help.
I decided I need structure to get my life into some order and routine to get out of this slump I find myself in. I'm making some changes in my life, and I decided to include the blog on that. To give myself some goals.
I'm going to challenge myself to three things on this blog. For a month at first, as a trial. One is, (and I'm copying this from some other blogs) Medical Mondays. I'm gonna use the blog to sort through my thoughts, discuss my favourite subjects and the research I've done on it, etc. In the beginning I'll probably concentrate on the issues my children/family have, but I may digress as I come across other interesting topics.
Secondly, I'm gonna have Wednesday Warmer. For the winter that lays ahead (in our country!). I hate winter! In any case, on Wednesdays I'm gonna have a short post with something that warms my heart. Whether it's a photo of one of the kids, a milestone of Peanut or a picture on the internet that touched my heart, or even just a quote.
And lastly, on Friday's, I'm gonna have a post to give an update on one or more of the children. Good or bad, just a quick post to let everyone know where we are in the different processes, or what's up in our lives. I'll post in between as well if something important happens, of course. Having these 3 goals for the week would challenge me. Maybe keep me sane. :-) Like the saying - fake it till you make it!
Wednesday, April 9, 2014
Just sad today...
I tried to write an upbeat post, but gave up halfway through. I'm not in the state of mind. I haven't been in the state of mind to write anything good, happy, etc. in so long. I'm sorry about that. I sometimes wonder how I'm going to get out of this pit I find myself in. It's not depression as such. I'm sure medication would help, but it's not that I'm depressed about what's happening. It's just that I'm so so sad. Last week was a good week. When we heard that Boeboe doesn't have VCFS. I was really happy. And for the rest of that week. The kids were at home on school break, and I got to spend loads of time with them. I pushed all my worries aside and tried to live in the moment. It worked well. Until this week, when the realities of everything came crashing down onto me again. With Boeboe, you just can't escape from the realities for long. You see them every day. You live them every day. You can ignore, and when she herself is excited and happy and having a ball while on holiday, things do tend to mellow a bit. But as soon as she was back in school, she's back to her old/normal self and I just can't ignore it and just be happy. When your daughter screams and screams and screams at you, until you find yourselve trying to drown her voice out by screaming back at her, so that she would JUST STOP FOR ONE MINUTE, then you just can't ignore it and be your happy self anymore.
It's so difficult. Life with Boeboe. I feel horrible writing this down. But I need people to understand. To get it. Tonight, the kids went to sit in the sittingroom, while me and hubby were still busy in the kitchen. We were on our way to join them. Like almost always, we heard Boeboe yell at one of the boys. She was angry because I put Peanut down next to Monkeyman. Monkeyman was sitting on the middle seat of the couch. Which meant that when Boeboe came in, her only choice was next to Monkeyman, and not both of them, or at the very least, on Peanut's other side. So like always, her first reaction was to scream how unfair and wrong and awful and crap everyone and everything is to her. Like always, she kept on screaming until she got her wish, which was for Monkeyman to move up so that she could sit in the middle.
30 Minutes later she was screaming at me and her daddy, because we said it was bedtime, and she'll have to finish what she was busy with (something arty) the next day. Then she got ready for bed, and after 20 minutes came to ask us if she can now finish her arty thing. We told her no, and had to listen to her screaming at us some more. At the top of her lungs. About 30 minutes later, when she was supposed to be asleep, she heard me giving a dead bee to Mr N (Boeboe is a bit allergic, and I was unable to chase it out of the car, so I killed it. Sniff sniff. I really didn't want to). Anyway, Mr N wanted me to take it home so that he could have a look at it under his microscope. So I called him to gave it to him, since it was lying in my kitchen since we got home from school. Boeboe heard me and got out of bed, because she too wanted to see the bee. And then was upset when I said she better get back into bed, Mr N can show her the bee tomorrow. It's not going anywhere.
That's all been about in the space of 2 hours. Earlier today, she screamed at Mr N because they were playing together outside, and she thought he took one of her sponge arrows (turned out it was his, as he thought). She believed it was hers, and screamed and yelled at him. Then, he did something in the game she didn't approve of, and again yelled some more at him. Then it was Monkeyman's turn, because he also didn't play like she understood the game to be.
Anyway, I'm rambling. I just want to illustrate how a "normal" day in our lives look. It's not sibling rivalry. We have that too. That's normal. I have to referee and ask them to compromise, etc. This is something else. This is Boeboe letting an onslaught of raw anger and frustration wash over anyone in her path. It's not strange for her. It's not abnormal for her (sure, it's abnormal behaviour). It's not even worse than yesterday or the day before. It was a pretty average day. Actually, it was a better than average day. Most of them are worse than this. I just don't complain much about it, because throughout the years people's reactions were:
"Oh, I know, geesh, these tantrums are rough hey? My daughter would go on and on, over nothing!".
Or "My youngest is exactly the same! He would just scream his head off!"
Or "You're lucky, my daughter would scream so much, she'd turn blue!!"
Or "I'm so sorry you're going through that. Isn't it because she doesn't have the capability to express herself in words? Maybe hold her tightly until she feels safe and secure."
Or "Mine does that as well! She'll scream like a banshee, and refuse to even listen to me!"
etc.
None of it was wrong, of course not. It was their experiences. I was just getting very disheartened, tired and lonely because I couldn't make anyone (bar Boeboe's psychologist, and close family members who witnessed it) understand that my tantrumming daughter is really the extreme.
It's NOT the same as your normal, typical daughter. It's NOT the same as your normal, typical son. I wish it was. I so wish it was. Look, it's not as bad anymore as when she was 4. Or 6. She's 10 now, and it's MUCH better. Especially since she was put on the psychotic medication. Much better. I felt guilty, in fact, when I marvelled at how much better life was for me, medicating my daughter. I felt awful, to be honest. Still, it's not over and done with. It's not gone. We still deal with her screaming and yelling and crying on a DAILY basis. Yes, at age 10.
I found this on the internet a few days ago (I hope it's big enough to be read):
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I believe this must be a chart for autistic children. I always assumed a tantrum and a meltdown is the same thing. I guess I was wrong. So maybe part of it all is the fact that I called Boeboe's episodes tantrums. While according to this chart, it was meltdowns. Up until a certain age (I can't precisely recall when, but at least age 6), I would've crossed all 5 of those. Now, I'd sometimes cross all of them, but not anymore all the time. She'll sometimes now consider her own safety. She doesn't bang her head on the ground anymore. She also would try to communicate her needs. If you count her screaming it at the top of her lungs communicating. She can also calm down much better now, sometimes. So yes, she had classic meltdowns, it seems. At least until age 6 or so. I wish I knew this then. Life might've been different for all of us.
So does this mean she has autism? No, I don't believe so. Accordingly to the psychiatrist and psychologist, Boeboe has autistic traits. But she doesn't fulfill the criteria for autism. I'm grateful for that.
So why am I sad today? Because we're still sitting with whatever we're sitting with. I marvel at the fact that people seem to think it's all over. I sometimes try to imagine how other people would react to hear that their child is at the very least, bipolar with psychosis. I try to imagine how many tears they would spill. How many days it would take them before they're "fine" again. How many sleepless nights they'd have. How many mornings they would struggle to get out of bed, because it's dragging you down. How long is it normal to mourn before you can go on?
I read a father's story of his fight to get his baby diagnosed with what was wrong (a chromosomal disorder). He described it so well. The heartache, the way your life come to a standstill while it still moves on for the rest of the world around you. How tired and disheartening and difficult it is. How you can't relate to other people any more. How you withdraw socially. How you don't visit friends or family anymore. How you don't invite people over anymore. How lonely the road is.
It took them 3 months. THREE MONTHS!
I've been at this for 10 years. Ten very very long YEARS. Fighting over and over and over again for my daughter. Always getting new rocks in the road I have to move before we can go on. Always having more and more worries piled onto our plates. Having to just accept it and move on. Well, I can't. This time, I can't. I'm too sad. Too done for. Too wrought out. I'm at the end of my tether, and with no end in sight, I feel like crumbling down and just giving up trying to be strong. To cry and cry all day every day. Without wondering what other people will think of me. Without worrying what the kids would do with a crying mommy. Without thinking what my friends or family would say. I just want to break down and BE HUMAN.
I won't do it. I've been raised by a very stoic, very private, VERY strong woman. It's ingrained into me that you just bite down and go on. Yes, other people would think you're fine. They won't realise how difficult things really are for you. But that's really what it's about, isn't it? Don't show weakness. Don't admit to having a really, really hard time. Don't admit that for 6 months, you could barely hold a normal conversation anymore. That for 6 months, you've been angry. So very, very angry. At everything and everyone. That for 6 months, you can't focus on any projects anymore. Anything good. That you're just going through the motions of living. You smile when it's expected. Sometimes you even laugh a geniune laugh. Sometimes you can even sound normal for a whole day. But later that evening, it will catch up with you. And all you'd be able to think, is:
My daughter is Bipolar (or worse... I can't even get myself to write that "worse" down here. I'm sure most of you have guessed already. It's that "worse" that occupies my thoughts 24/7).
My daughter is psychotic.
My daughter sees and hears things. Things that doesn't exist. That's in fact stationary, not moving. Or silence, not beeping or talking.
My daughter has a general anxiety disorder, as well as a separation anxiety disorder.
My daughter needs strong, mind-altering medications. Probably for the rest of her life.
My daughter is ten and she communicates on the level of a 7-year old.
My daughter is at the emotional and social level of a 7-year old. This classifies her as having Global Development Delayed, though she past age 5, when they don't diagnose it as such anymore.
My daughter probably has a chromosomal disorder, or at the least, accordingly to the geneticist, a number of genes that went awry at some point, for whatever reason. It's in her genes, bottom line. No way to fix it. No way to make it all go away.
My daughter probably won't be much longer in mainstream school. If we're really lucky, we'd be able to finish primary school (up to grade 7). Apparently, we can forget about her being in a normal high school.
My daughter's future would be impacted. Severely impacted.
My son has an immunity disorder.
My son has heart "issues" (no idea at this stage precisely what it means anymore). He still complains about the heart palpitations.
My son never developed any antibodies to his baby vaccines, and is vulnerable to any and all of those diseases. Living in a country where TB is rife... it's scary. I always thought it's okay, he's covered. Same with diptheria. Tetanus. Etc. The realisation that I've pumped him full of chemicals, put him through the pain and horror of baby vaccines for ABSOLUTELY NOTHING. No gain, no immunity. It's nauseating.
My son has some underlying condition. It could be mild, or it could be progressing and life-threatening. We don't know.
All of the above is what my children were diagnosed with or we've been told by various specialists JUST in the last 6 months. It doesn't take into the account the myriad of other things all of my children has already been diagnosed with over the 12 years before that. It's JUST this last 6 months we've been told all of that. Do you have any idea how that feels? How awful and difficult it is? It's.just.too.much. I can't anymore. So, I'm sad. Just sad. Because I don't have the emotional reserves anymore to be fighting, to be angry, to be tough and strong. I'm just sad. So very, very sad. All.the.time. All.the.fucking.time. Excuse my french.
It's so difficult. Life with Boeboe. I feel horrible writing this down. But I need people to understand. To get it. Tonight, the kids went to sit in the sittingroom, while me and hubby were still busy in the kitchen. We were on our way to join them. Like almost always, we heard Boeboe yell at one of the boys. She was angry because I put Peanut down next to Monkeyman. Monkeyman was sitting on the middle seat of the couch. Which meant that when Boeboe came in, her only choice was next to Monkeyman, and not both of them, or at the very least, on Peanut's other side. So like always, her first reaction was to scream how unfair and wrong and awful and crap everyone and everything is to her. Like always, she kept on screaming until she got her wish, which was for Monkeyman to move up so that she could sit in the middle.
30 Minutes later she was screaming at me and her daddy, because we said it was bedtime, and she'll have to finish what she was busy with (something arty) the next day. Then she got ready for bed, and after 20 minutes came to ask us if she can now finish her arty thing. We told her no, and had to listen to her screaming at us some more. At the top of her lungs. About 30 minutes later, when she was supposed to be asleep, she heard me giving a dead bee to Mr N (Boeboe is a bit allergic, and I was unable to chase it out of the car, so I killed it. Sniff sniff. I really didn't want to). Anyway, Mr N wanted me to take it home so that he could have a look at it under his microscope. So I called him to gave it to him, since it was lying in my kitchen since we got home from school. Boeboe heard me and got out of bed, because she too wanted to see the bee. And then was upset when I said she better get back into bed, Mr N can show her the bee tomorrow. It's not going anywhere.
That's all been about in the space of 2 hours. Earlier today, she screamed at Mr N because they were playing together outside, and she thought he took one of her sponge arrows (turned out it was his, as he thought). She believed it was hers, and screamed and yelled at him. Then, he did something in the game she didn't approve of, and again yelled some more at him. Then it was Monkeyman's turn, because he also didn't play like she understood the game to be.
Anyway, I'm rambling. I just want to illustrate how a "normal" day in our lives look. It's not sibling rivalry. We have that too. That's normal. I have to referee and ask them to compromise, etc. This is something else. This is Boeboe letting an onslaught of raw anger and frustration wash over anyone in her path. It's not strange for her. It's not abnormal for her (sure, it's abnormal behaviour). It's not even worse than yesterday or the day before. It was a pretty average day. Actually, it was a better than average day. Most of them are worse than this. I just don't complain much about it, because throughout the years people's reactions were:
"Oh, I know, geesh, these tantrums are rough hey? My daughter would go on and on, over nothing!".
Or "My youngest is exactly the same! He would just scream his head off!"
Or "You're lucky, my daughter would scream so much, she'd turn blue!!"
Or "I'm so sorry you're going through that. Isn't it because she doesn't have the capability to express herself in words? Maybe hold her tightly until she feels safe and secure."
Or "Mine does that as well! She'll scream like a banshee, and refuse to even listen to me!"
etc.
None of it was wrong, of course not. It was their experiences. I was just getting very disheartened, tired and lonely because I couldn't make anyone (bar Boeboe's psychologist, and close family members who witnessed it) understand that my tantrumming daughter is really the extreme.
It's NOT the same as your normal, typical daughter. It's NOT the same as your normal, typical son. I wish it was. I so wish it was. Look, it's not as bad anymore as when she was 4. Or 6. She's 10 now, and it's MUCH better. Especially since she was put on the psychotic medication. Much better. I felt guilty, in fact, when I marvelled at how much better life was for me, medicating my daughter. I felt awful, to be honest. Still, it's not over and done with. It's not gone. We still deal with her screaming and yelling and crying on a DAILY basis. Yes, at age 10.
I found this on the internet a few days ago (I hope it's big enough to be read):
I believe this must be a chart for autistic children. I always assumed a tantrum and a meltdown is the same thing. I guess I was wrong. So maybe part of it all is the fact that I called Boeboe's episodes tantrums. While according to this chart, it was meltdowns. Up until a certain age (I can't precisely recall when, but at least age 6), I would've crossed all 5 of those. Now, I'd sometimes cross all of them, but not anymore all the time. She'll sometimes now consider her own safety. She doesn't bang her head on the ground anymore. She also would try to communicate her needs. If you count her screaming it at the top of her lungs communicating. She can also calm down much better now, sometimes. So yes, she had classic meltdowns, it seems. At least until age 6 or so. I wish I knew this then. Life might've been different for all of us.
So does this mean she has autism? No, I don't believe so. Accordingly to the psychiatrist and psychologist, Boeboe has autistic traits. But she doesn't fulfill the criteria for autism. I'm grateful for that.
So why am I sad today? Because we're still sitting with whatever we're sitting with. I marvel at the fact that people seem to think it's all over. I sometimes try to imagine how other people would react to hear that their child is at the very least, bipolar with psychosis. I try to imagine how many tears they would spill. How many days it would take them before they're "fine" again. How many sleepless nights they'd have. How many mornings they would struggle to get out of bed, because it's dragging you down. How long is it normal to mourn before you can go on?
I read a father's story of his fight to get his baby diagnosed with what was wrong (a chromosomal disorder). He described it so well. The heartache, the way your life come to a standstill while it still moves on for the rest of the world around you. How tired and disheartening and difficult it is. How you can't relate to other people any more. How you withdraw socially. How you don't visit friends or family anymore. How you don't invite people over anymore. How lonely the road is.
It took them 3 months. THREE MONTHS!
I've been at this for 10 years. Ten very very long YEARS. Fighting over and over and over again for my daughter. Always getting new rocks in the road I have to move before we can go on. Always having more and more worries piled onto our plates. Having to just accept it and move on. Well, I can't. This time, I can't. I'm too sad. Too done for. Too wrought out. I'm at the end of my tether, and with no end in sight, I feel like crumbling down and just giving up trying to be strong. To cry and cry all day every day. Without wondering what other people will think of me. Without worrying what the kids would do with a crying mommy. Without thinking what my friends or family would say. I just want to break down and BE HUMAN.
I won't do it. I've been raised by a very stoic, very private, VERY strong woman. It's ingrained into me that you just bite down and go on. Yes, other people would think you're fine. They won't realise how difficult things really are for you. But that's really what it's about, isn't it? Don't show weakness. Don't admit to having a really, really hard time. Don't admit that for 6 months, you could barely hold a normal conversation anymore. That for 6 months, you've been angry. So very, very angry. At everything and everyone. That for 6 months, you can't focus on any projects anymore. Anything good. That you're just going through the motions of living. You smile when it's expected. Sometimes you even laugh a geniune laugh. Sometimes you can even sound normal for a whole day. But later that evening, it will catch up with you. And all you'd be able to think, is:
My daughter is Bipolar (or worse... I can't even get myself to write that "worse" down here. I'm sure most of you have guessed already. It's that "worse" that occupies my thoughts 24/7).
My daughter is psychotic.
My daughter sees and hears things. Things that doesn't exist. That's in fact stationary, not moving. Or silence, not beeping or talking.
My daughter has a general anxiety disorder, as well as a separation anxiety disorder.
My daughter needs strong, mind-altering medications. Probably for the rest of her life.
My daughter is ten and she communicates on the level of a 7-year old.
My daughter is at the emotional and social level of a 7-year old. This classifies her as having Global Development Delayed, though she past age 5, when they don't diagnose it as such anymore.
My daughter probably has a chromosomal disorder, or at the least, accordingly to the geneticist, a number of genes that went awry at some point, for whatever reason. It's in her genes, bottom line. No way to fix it. No way to make it all go away.
My daughter probably won't be much longer in mainstream school. If we're really lucky, we'd be able to finish primary school (up to grade 7). Apparently, we can forget about her being in a normal high school.
My daughter's future would be impacted. Severely impacted.
My son has an immunity disorder.
My son has heart "issues" (no idea at this stage precisely what it means anymore). He still complains about the heart palpitations.
My son never developed any antibodies to his baby vaccines, and is vulnerable to any and all of those diseases. Living in a country where TB is rife... it's scary. I always thought it's okay, he's covered. Same with diptheria. Tetanus. Etc. The realisation that I've pumped him full of chemicals, put him through the pain and horror of baby vaccines for ABSOLUTELY NOTHING. No gain, no immunity. It's nauseating.
My son has some underlying condition. It could be mild, or it could be progressing and life-threatening. We don't know.
All of the above is what my children were diagnosed with or we've been told by various specialists JUST in the last 6 months. It doesn't take into the account the myriad of other things all of my children has already been diagnosed with over the 12 years before that. It's JUST this last 6 months we've been told all of that. Do you have any idea how that feels? How awful and difficult it is? It's.just.too.much. I can't anymore. So, I'm sad. Just sad. Because I don't have the emotional reserves anymore to be fighting, to be angry, to be tough and strong. I'm just sad. So very, very sad. All.the.time. All.the.fucking.time. Excuse my french.
Wednesday, April 2, 2014
It's negative!!!!!!
It's not VCFS!! It's NOT VCFS!!!!!! Whoohoo!!!!
I'm really so so so so so happy, and so relieved!!
Gosh, I feel like flying. Like I'm light and airy and filled with happiness big enough to lift me off my feet!! :-)
I didn't realise that it weighed on me so much. The threat of it being VCFS. Wow. And now it's proven not to be that. Wow. After worrying months and months, all it took was a blood test, a little more than a week and a couple of thousand bucks. Gosh, wish we did this in November already last year! Could've spared me ALOT of sleepless nights!
Not that we're totally in the clear or anything. No answers still. In fact, we're pretty much back to square 1. But, I'm really just so happy it's not VCFS. I just didn't want her to have such a heavy, complex, difficult diagnosis. And the road for children with VCFS really isn't easy.
So what now? Well, we don't know. In the letter the pathologist lab sent, they proposed that we do a chromosomal analysis. This will also cost about R2000. It gives an overview of ALL the chromosomes. The test that we just did, was only to look at a few bands on the long arm of chromosome nr 22. Nothing else. Not the rest of the chromosome nr 22, not any of the other chromosomes. Just nr 22, just the long arm, just 2 bands on the long arm (the 11.2 band as well as a control band). So it was really just a tiny piece of that one chromosome.
The chromosomal analysis will look at ALL the chromosomes. But, it means they can't "zoom" in on any one of them really. So it will only pick up gross defects. Like when you have a huge piece missing, or an extra arm, or a translocation, etc. Or like with Down Syndrome, when there's a complete extra 3rd copy. So even though the pathologist lab proposes this, the geneticist doesn't think it's worth the money. She said (and we agree) that Boeboe just doesn't show the signs and symptoms of a child that has something hugely wrong with one of her chromosomes. She just doesn't have the facial features or the obvious birth defects they're born with. Like club feet, heart abnormalities, cleft lip, missing limbs, etc. Hers rather point to a small number of genes that went haywire.
So I believe she rather have a small microdeletion or microduplication. On one of her chromosomes. Microduplications and - deletions cannot be seen on a chromosomal analysis test. A micro array test will give a better chance (though alot still gets missed with those too).
So how much time, stress and money will we put into this? I don't know. For now, we just revel in the fact that it's not VCFS. And then we'll decide the way forward. The geneticist wants to see us in a week or 2's time. So I guess we'll sit and decide then if we want to continue this process, and which way is best. In the meantime, we have to decide if we want to do the chromosomal analysis or not. While they still have her blood. So we only have a day or 2 to decide. So far, we're leaning towards not doing it.
I looked at Boeboe today, and it felt like I just got my daughter's future back. I know, it's illogical. I know that there's still things wrong with her genes. So why does it make such a difference if it has a "label" like VCFS or not? Well, because I now have hope again that she might one day have children of her own without needing to worry that she'll pass VCFS on to them. I now have hope again that she'll develop into an independant woman one day, living on her own, holding down a job, marry, etc. It's not that VCFS children doesn't have that hope, it's just that statistical speaking, her chances would've been a bit lower. Chances for a normal mainstream highschool would've been much lower. Chances for cognitive decline would've been a bit higher. Chances of developing schizophrenia.... well, in the normal population you have a 1% chance. Amongst VCFS children, it's more than 30%!!
Ag, there's just so many, many, many worries that, at this moment, seems to have vanished. I'm sure tomorrow or next week I'd start worrying again. But for this moment, I want to celebrate and jump in the air and be happy! Her future is bright again. She has a future again. When last week, it was dark. I'm so so relieved.
Yes, I still believe that she doesn't just have random genes that for some reason went haywire. I still believe the damaged genes that caused her tethered cord, her tearducts that isn't working, her hooded eyes, her "weird" spidery fingers, her misshaped kidney, her narrowed urethra, her awful reflux, her trouble feeding as a baby, her difficult pregnancy with the placenta that just died, her sleep apnea and difficult newborn days, etc. All of it is interlinked. I believe all those damaged genes are situated next to each other on one chromosome, and that they either got damaged somehow, or deleted, or that she has an extra copy messing around with the cells in her body. So yes, we're not in the clear. The geneticist says there's genes damaged. I say that those genes are next to each other in a deletion/duplication. And I'd love to find it and name it. Is it worth the money? The stress? I don't know. At this point, I really just do not know. We'll see. We'll still decide.
For now, I'm just revelling in the fact that my daughter does not have VCFS/DiGeorge, and that that probably means that Monkeyman also doesn't have VCFS. I feel like jumping. Like flying!!!
We're on holiday. School's closed for the week. It's wonderful. We play games all day long. Outside, board games, card games, etc. The kids are having an absolute blast. And me to. It's lovely spending time with them. Peanut is in her element. She's going to feel so very lost next week, when they're back in school. But for now, we're just having a ball and enjoying it!
I'm really so so so so so happy, and so relieved!!
Gosh, I feel like flying. Like I'm light and airy and filled with happiness big enough to lift me off my feet!! :-)
I didn't realise that it weighed on me so much. The threat of it being VCFS. Wow. And now it's proven not to be that. Wow. After worrying months and months, all it took was a blood test, a little more than a week and a couple of thousand bucks. Gosh, wish we did this in November already last year! Could've spared me ALOT of sleepless nights!
Not that we're totally in the clear or anything. No answers still. In fact, we're pretty much back to square 1. But, I'm really just so happy it's not VCFS. I just didn't want her to have such a heavy, complex, difficult diagnosis. And the road for children with VCFS really isn't easy.
So what now? Well, we don't know. In the letter the pathologist lab sent, they proposed that we do a chromosomal analysis. This will also cost about R2000. It gives an overview of ALL the chromosomes. The test that we just did, was only to look at a few bands on the long arm of chromosome nr 22. Nothing else. Not the rest of the chromosome nr 22, not any of the other chromosomes. Just nr 22, just the long arm, just 2 bands on the long arm (the 11.2 band as well as a control band). So it was really just a tiny piece of that one chromosome.
The chromosomal analysis will look at ALL the chromosomes. But, it means they can't "zoom" in on any one of them really. So it will only pick up gross defects. Like when you have a huge piece missing, or an extra arm, or a translocation, etc. Or like with Down Syndrome, when there's a complete extra 3rd copy. So even though the pathologist lab proposes this, the geneticist doesn't think it's worth the money. She said (and we agree) that Boeboe just doesn't show the signs and symptoms of a child that has something hugely wrong with one of her chromosomes. She just doesn't have the facial features or the obvious birth defects they're born with. Like club feet, heart abnormalities, cleft lip, missing limbs, etc. Hers rather point to a small number of genes that went haywire.
So I believe she rather have a small microdeletion or microduplication. On one of her chromosomes. Microduplications and - deletions cannot be seen on a chromosomal analysis test. A micro array test will give a better chance (though alot still gets missed with those too).
So how much time, stress and money will we put into this? I don't know. For now, we just revel in the fact that it's not VCFS. And then we'll decide the way forward. The geneticist wants to see us in a week or 2's time. So I guess we'll sit and decide then if we want to continue this process, and which way is best. In the meantime, we have to decide if we want to do the chromosomal analysis or not. While they still have her blood. So we only have a day or 2 to decide. So far, we're leaning towards not doing it.
I looked at Boeboe today, and it felt like I just got my daughter's future back. I know, it's illogical. I know that there's still things wrong with her genes. So why does it make such a difference if it has a "label" like VCFS or not? Well, because I now have hope again that she might one day have children of her own without needing to worry that she'll pass VCFS on to them. I now have hope again that she'll develop into an independant woman one day, living on her own, holding down a job, marry, etc. It's not that VCFS children doesn't have that hope, it's just that statistical speaking, her chances would've been a bit lower. Chances for a normal mainstream highschool would've been much lower. Chances for cognitive decline would've been a bit higher. Chances of developing schizophrenia.... well, in the normal population you have a 1% chance. Amongst VCFS children, it's more than 30%!!
Ag, there's just so many, many, many worries that, at this moment, seems to have vanished. I'm sure tomorrow or next week I'd start worrying again. But for this moment, I want to celebrate and jump in the air and be happy! Her future is bright again. She has a future again. When last week, it was dark. I'm so so relieved.
Yes, I still believe that she doesn't just have random genes that for some reason went haywire. I still believe the damaged genes that caused her tethered cord, her tearducts that isn't working, her hooded eyes, her "weird" spidery fingers, her misshaped kidney, her narrowed urethra, her awful reflux, her trouble feeding as a baby, her difficult pregnancy with the placenta that just died, her sleep apnea and difficult newborn days, etc. All of it is interlinked. I believe all those damaged genes are situated next to each other on one chromosome, and that they either got damaged somehow, or deleted, or that she has an extra copy messing around with the cells in her body. So yes, we're not in the clear. The geneticist says there's genes damaged. I say that those genes are next to each other in a deletion/duplication. And I'd love to find it and name it. Is it worth the money? The stress? I don't know. At this point, I really just do not know. We'll see. We'll still decide.
For now, I'm just revelling in the fact that my daughter does not have VCFS/DiGeorge, and that that probably means that Monkeyman also doesn't have VCFS. I feel like jumping. Like flying!!!
We're on holiday. School's closed for the week. It's wonderful. We play games all day long. Outside, board games, card games, etc. The kids are having an absolute blast. And me to. It's lovely spending time with them. Peanut is in her element. She's going to feel so very lost next week, when they're back in school. But for now, we're just having a ball and enjoying it!
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