We got a call from the professor that the psychiatrist wanted us to see. He asked us to come in today! Wow, it's rare to get into a specialist that quickly. Even though he was very interested in our history as much as we wanted to hear what he has to say. He's a very nice, solid, good man. Really made us feel comfortable and easy to open up and talk to him about things that's not always so easy to talk about. He really seems to "get" the situation we find ourselves in. And he gave me one of the nicest compliments a dr ever did. It kinda set the scale back to level again, for me. After having to deal with so many doctors, with so many opinions. Some that believed I was lying or overly paranoid.
All in all, it was a great visit. Not the best outcome, but still a positive experience. The best outcome would've of course been if he had said "ag no man, there's absolutely nothing wrong with your child, least of all such a horrible chromosomal abnormality". I didn't expect that outcome, to be honest. But a friend of mine did, and was sad and a bit upset that that wasn't what happened. It was sweet of her, but I'm okay with the way things went.
So how DID it go? Well, basically he agreed that our daughter has a whole lot of things wrong with her. He agreed with the anxiety, social problems, learning dissabilities, etc. etc. He took note of all her diagnoses, and was especially interested in her tethered cord and orthopedic abnormalities. Probably since they're signs of the valo cardio facial syndrome. In the end, he said that our daughter (like we know) doesn't have the more obvious, major symptoms of the syndrome. Like the cleft palate, congenital heart defects and the poor immune system. None of which Boeboe has (thank God). Or much of the typical facial features.
Unfortunately, that doesn't mean she doesn't have the syndrome. He said that in the 16 years he has worked on the research on 22q, he has learned one thing from the 800 patients they diagnosed, and that is that nothing about this disease, is fixed in stone. And Boeboe certainly has way too many issues going, too many things wrong, to just dismiss all of it. There's too many signs to just say "don't worry". Having a diagnosis might not change much for her at this point, but it might give us some future support and solutions to certain issues.
He doesn't want to put her through another bloodtest now, with her anxiety disorder, so we need to wait until another dr also needs some bloods, then we'll add his test to it. It needs to be tested in America, since it's not available in our country. Anyway, we'll need to be patient, it's not something that we'll get overnight results for. Quite the opposite, we're most likely looking at months.
He also said that her anxiety isn't something she's going to just shake off quickly. She's in it for the long haul. There's too many, complex pshyciatric signs. Some of it we can just keep an eye on for now, even though they're quite disturbing to us. Some of it we can treat for now, like the anxiety. And some of it we can work around with, like the social/autistic traits.
The one thing he also said that was a bit hard to hear out loud, was that he doesn't believe she'll cope in mainstream school. I'm not at the point yet where I just want to take her out. But, hearing that made me realise we'll have to face the possibility that it might be necessary. That it might be the best thing for Boeboe. Even though they're just 26 kids in her class, she still "dissapear" because of her social inability to reach out to the teachers. I spoke to her previous playschool teacher when I went to pick Monkeyman up (he's at the same school she was). She said aspergers really does fit, or at least, "autistic traits". It makes sense to her now, some of Boeboe's odd behaviours.
We don't have a diagnosis of autism. Just that red flags for it went up for the psychiatrist, and it just "fits". I have wondered about it myself, many times before. Mostly because of her tantrums.
Two days ago, I took her for the EEG test. She was terrified, made a huge deal out of everything, from the alcohol swab to the paste they use to the fact that I had to leave the room for a while because of Peanut being noisy. Everything was just too much for her. If she was 2 or even 4, or maaayyybbeee 5, I could've said it's probably normal and ok. But at age 10, it's really not normal behaving like a 3-year old anymore. It was just another clear sign to me that even though it's difficult to face, she really does not function at the level she's supposed to. We've always made excuses for her, but really need to accept and understand this. For her sake.
She was less terrified of the bloodtest. Just doesn't make sense to me, but I have a huge fear of needles, lol. She did find it very painful, and even worse was when the nurse put (or tried to!) a plaster on afterwards. After ALOT of coaching, she agreed to a microlite rather. She wasn't happy about it, and clearly felt very cornered. I should've interfered and told the nurse to back-off. I need to have a mindset change first. To accept that she's not just being naughty or oppositional or spoiled or stubborn. I need time to get there. It's all been too overwhelming at this point, and I still need to sort out the diagnoses from the speculations, in my head. To know what IS, and to accept that.
Well, so that was our eventful, busy day. It was extremely interesting to see a psychiatric hospital run by the government, up close. I've never been to one before. We didn't see much inside, just the outpatient building where the professor has some offices. Still, it was interesting. I do hope however, that we don't need to become too familiar with it. The threat of the close association schizophrenia has with the 22q deletion syndrome, was constantly in the back of my mind since Monday. Really scary. Really, really scary.
Friday, October 18, 2013
Tuesday, October 15, 2013
Velo-Cardio-Facial Syndrome?
I'm a little bit numb. A little shocked. A little relieved (weird hey?). A little bit of everything. But a whole lot of sad.
No, it's not a diagnosis (yet).
But it may be, in the (not too distant) future. I have so much to say, but I honestly don't know where to begin. I almost feel like if I pen it all down, that it might make it real? Currently, I can still try and live in blissful ignorance. Once it's there, black on white, I have to feel it. I have to acknowledge it. And I'm not ready. I'm very good at logical puzzles. At figuring out what's wrong and chasing that diagnosis. But when I get it, I backtrack, because searching for a diagnosis keeps you busy. Facing that diagnosis might just bring me crashing down. And I can't afford that. Not yet.
So let's begin at the chronological order. Last week, I took Monkeyman for his checkup with the cardiologist. I'm a bit confused about some aspects of the hour there, so I'm just going to list the facts and maybe it will make more sense that way.
- Lung x-rays are still the same as a month ago. There's bronchial thickening. It might be an infection, and it might be cardiovascular (accordingly to the report). It might be something, it might be nothing. It's not what she thought it would be, though (enlarged nymphnodes).
- She said his white blood count was low when we tested it beginning of September. She wants us to repeat it end of November, and also add a liver function test to it. If it's still high, it might tie in with the lungs having an infection type of thing going. Maybe a localised patch of pneumonia? He doesn't have a cough! No fever, nothing. Spleen feels normal, no swollen lymphnodes, no fever, no ear infection, nothing, except a very slight hayfever in the nose.
- Heart wall is still thin. She said it's the left ventricle wall.
- Left ventricle's output isn't what it should be. She said it should be at least 40%, or at best 38%, while his is 36%. I guess it's the ejection fraction that she's talking about?
- She again speculated that he might have a mitochondrial disease.
- She also again mentioned that the medication she think would benefit him (something called Q10), is a very large pill that she doesn't believe he'll be able to swallow (yet), at his age.
- She's very happy with his iron count, and said she's not worried about it having anything to do with iron or iron malabsorption or anything like that. The count went up from 6.9 to over 13.
- She asked us to give it another 2 months, so that we're in the all clear for waiting 6 months after the Pulmonary Hypertention's cause was taken care of (the adenoidectomy). It's now 4 months, and accordingly to the echo, almost all signs is now completely gone. Right ventricle is back to normal size, backflow is gone, etc. So maybe now there will be some improvements in his tiredness as well. We're grasping at straws here, but, who knows?! It does make sense to give the full time period a chance.
- She said he seems to have a slight hayfever thing going on in his nose, and that we should treat it for a month or 2, and see if that doesn't help him sleep better and thus he might be less tired? Another straw......
- We'll do the sleep study once his nose/hayfever is taken care of, because we don't want anything to interfere with the results and get a false positive. It makes sense, so I'm happy to wait on this one.
She says the next step might be a muscle biopsy of the heart, or a CT scan, we'll need to see what the next 2 months brings. When I asked her what the thin heart wall means, she replied that it's a "[something] cardiomyopathy". I couldn't immediately register the something she said, it was a biggish word, and she spoke fast. She then said that she didn't want to diagnose him with it yet, because then we're going to stress.
The cardiologist said she doesn't want to see Monkeyman TOO often, to try and find what's wrong, because she said the children gets very anxious and worried that there's something terribly wrong with them (definitely part of Boeboe's history). A little girl who had an appointment just before us, told the cardioligist that her heart is "broken" when she had to visit the cardiologist for only the 3rd time. That's sad, shame. So that's another reason she wants to give it 2 months. She also said that IF he shows improvement over the next 2 months, we should postpone the appointment of beginnning December, to January rather.
So I was still taking all of this in, when I saw our GP for some issues I have (most likely iron problems). I told him about Monkeyman's thin left heart wall, and he replied: "Cardiomyopathy?", and then said: "That's bad. That's very bad."
This whole weekend I was concentrating on the 3 things I bolded. Thin heart wall, function of only 36% and mitochondrial disease. The one as bad as the other. What bothers me most, I think, at this point, was the 36%. Everything I read, says that this means he is in the beginning stages of heart failure. Can that be???? The mind reels.
So, being very preoccupied with this, I went into the psychiatrist visit today with absolutely no other expectation than her diagnosing Boeboe formally with an anxiety disorder, prescribing some pills and us being on our merry way again.
So NOT what happened. For the 3rd time in so many weeks, I'm reeling from the shock of some very unexpected diagnosis. I'm not sure how any parent can go through all of this, and just keep on pushing. Keep on going. Laugh, smile, live life normally. What's normal anyway? I don't know anymore. We talk, the kids laugh, we take them to school, they play tennis, I chat with friends, I cook, we drink coffee, we shop, etc. But inside, I'm numb. I'm dead. I can't process anything anymore.
The psychiatrist said that there's a complex host of things wrong with our daughter. She definitely has an anxiety disorder, "amongst other things". She didn't go on too much about what other things, except that she first wondered about Aspergers, but later on in the appointment she started to think Velo-Cardio-Facial Syndrome. Hence, the titel of this blog. It's not a diagnosis yet, it's what she thinks might be up. She says there's a professor she works with in one of the psychiatric hospitals (not as a patient, obviously!) that deals closely with this syndrome (especially amongst his schizophrenia patients). She's going to organise a visit for us with him. If he also believes that it might be that, they'll do a bloodtest and send it to a univarcity in New York he deals with, for tests. Sounds serious. :-(
The other name for this syndrome, is 22q11.2 deletion syndrome. It's a chromosomal disorder, quite common as far as syndromes go (apparently the most common one after Down Syndrome), and it means that a part of chromosome nr 22 has been deleted. Due to Monkeyman's current heart issues, and even Mr N's diagnoses over the years, the psychiatrist believes that it didn't just happen to Boeboe out of the blue, but that it's a familial thing. Something we passed on to all 3 of them (maybe even all 4, who knows?!).
I don't know how to feel. What I'm suppose to feel. I just know that there's a big, heavy stone somewhere in my heart's region. And I know that if I think about it too much, it's going to explode and damage everything in its path.
Tomorrow, I have to take Boeboe for an EEG. She's absolutely TERRIFIED. Because Mr N "bragged" once about how sore it is, and she retained that information. She also have to go for bloodtests afterwards, and I'm going to be all alone with all 4 kids. My husband just simply cannot take off for every little thing, and there's too many little things going on at the moment. Too many tests, procedures, dr appointments, etc. Just too many. It's clear that something is wrong when a family has to take their children to so many appointments. Something very wrong.
No, it's not a diagnosis (yet).
But it may be, in the (not too distant) future. I have so much to say, but I honestly don't know where to begin. I almost feel like if I pen it all down, that it might make it real? Currently, I can still try and live in blissful ignorance. Once it's there, black on white, I have to feel it. I have to acknowledge it. And I'm not ready. I'm very good at logical puzzles. At figuring out what's wrong and chasing that diagnosis. But when I get it, I backtrack, because searching for a diagnosis keeps you busy. Facing that diagnosis might just bring me crashing down. And I can't afford that. Not yet.
So let's begin at the chronological order. Last week, I took Monkeyman for his checkup with the cardiologist. I'm a bit confused about some aspects of the hour there, so I'm just going to list the facts and maybe it will make more sense that way.
- Lung x-rays are still the same as a month ago. There's bronchial thickening. It might be an infection, and it might be cardiovascular (accordingly to the report). It might be something, it might be nothing. It's not what she thought it would be, though (enlarged nymphnodes).
- She said his white blood count was low when we tested it beginning of September. She wants us to repeat it end of November, and also add a liver function test to it. If it's still high, it might tie in with the lungs having an infection type of thing going. Maybe a localised patch of pneumonia? He doesn't have a cough! No fever, nothing. Spleen feels normal, no swollen lymphnodes, no fever, no ear infection, nothing, except a very slight hayfever in the nose.
- Heart wall is still thin. She said it's the left ventricle wall.
- Left ventricle's output isn't what it should be. She said it should be at least 40%, or at best 38%, while his is 36%. I guess it's the ejection fraction that she's talking about?
- She again speculated that he might have a mitochondrial disease.
- She also again mentioned that the medication she think would benefit him (something called Q10), is a very large pill that she doesn't believe he'll be able to swallow (yet), at his age.
- She's very happy with his iron count, and said she's not worried about it having anything to do with iron or iron malabsorption or anything like that. The count went up from 6.9 to over 13.
- She asked us to give it another 2 months, so that we're in the all clear for waiting 6 months after the Pulmonary Hypertention's cause was taken care of (the adenoidectomy). It's now 4 months, and accordingly to the echo, almost all signs is now completely gone. Right ventricle is back to normal size, backflow is gone, etc. So maybe now there will be some improvements in his tiredness as well. We're grasping at straws here, but, who knows?! It does make sense to give the full time period a chance.
- She said he seems to have a slight hayfever thing going on in his nose, and that we should treat it for a month or 2, and see if that doesn't help him sleep better and thus he might be less tired? Another straw......
- We'll do the sleep study once his nose/hayfever is taken care of, because we don't want anything to interfere with the results and get a false positive. It makes sense, so I'm happy to wait on this one.
She says the next step might be a muscle biopsy of the heart, or a CT scan, we'll need to see what the next 2 months brings. When I asked her what the thin heart wall means, she replied that it's a "[something] cardiomyopathy". I couldn't immediately register the something she said, it was a biggish word, and she spoke fast. She then said that she didn't want to diagnose him with it yet, because then we're going to stress.
The cardiologist said she doesn't want to see Monkeyman TOO often, to try and find what's wrong, because she said the children gets very anxious and worried that there's something terribly wrong with them (definitely part of Boeboe's history). A little girl who had an appointment just before us, told the cardioligist that her heart is "broken" when she had to visit the cardiologist for only the 3rd time. That's sad, shame. So that's another reason she wants to give it 2 months. She also said that IF he shows improvement over the next 2 months, we should postpone the appointment of beginnning December, to January rather.
So I was still taking all of this in, when I saw our GP for some issues I have (most likely iron problems). I told him about Monkeyman's thin left heart wall, and he replied: "Cardiomyopathy?", and then said: "That's bad. That's very bad."
This whole weekend I was concentrating on the 3 things I bolded. Thin heart wall, function of only 36% and mitochondrial disease. The one as bad as the other. What bothers me most, I think, at this point, was the 36%. Everything I read, says that this means he is in the beginning stages of heart failure. Can that be???? The mind reels.
So, being very preoccupied with this, I went into the psychiatrist visit today with absolutely no other expectation than her diagnosing Boeboe formally with an anxiety disorder, prescribing some pills and us being on our merry way again.
So NOT what happened. For the 3rd time in so many weeks, I'm reeling from the shock of some very unexpected diagnosis. I'm not sure how any parent can go through all of this, and just keep on pushing. Keep on going. Laugh, smile, live life normally. What's normal anyway? I don't know anymore. We talk, the kids laugh, we take them to school, they play tennis, I chat with friends, I cook, we drink coffee, we shop, etc. But inside, I'm numb. I'm dead. I can't process anything anymore.
The psychiatrist said that there's a complex host of things wrong with our daughter. She definitely has an anxiety disorder, "amongst other things". She didn't go on too much about what other things, except that she first wondered about Aspergers, but later on in the appointment she started to think Velo-Cardio-Facial Syndrome. Hence, the titel of this blog. It's not a diagnosis yet, it's what she thinks might be up. She says there's a professor she works with in one of the psychiatric hospitals (not as a patient, obviously!) that deals closely with this syndrome (especially amongst his schizophrenia patients). She's going to organise a visit for us with him. If he also believes that it might be that, they'll do a bloodtest and send it to a univarcity in New York he deals with, for tests. Sounds serious. :-(
The other name for this syndrome, is 22q11.2 deletion syndrome. It's a chromosomal disorder, quite common as far as syndromes go (apparently the most common one after Down Syndrome), and it means that a part of chromosome nr 22 has been deleted. Due to Monkeyman's current heart issues, and even Mr N's diagnoses over the years, the psychiatrist believes that it didn't just happen to Boeboe out of the blue, but that it's a familial thing. Something we passed on to all 3 of them (maybe even all 4, who knows?!).
I don't know how to feel. What I'm suppose to feel. I just know that there's a big, heavy stone somewhere in my heart's region. And I know that if I think about it too much, it's going to explode and damage everything in its path.
Tomorrow, I have to take Boeboe for an EEG. She's absolutely TERRIFIED. Because Mr N "bragged" once about how sore it is, and she retained that information. She also have to go for bloodtests afterwards, and I'm going to be all alone with all 4 kids. My husband just simply cannot take off for every little thing, and there's too many little things going on at the moment. Too many tests, procedures, dr appointments, etc. Just too many. It's clear that something is wrong when a family has to take their children to so many appointments. Something very wrong.
Tuesday, October 1, 2013
Hand, Foot and Mouth Disease
No, not the bovine disease! A related, but human disease caused by the coxsackie (who on earth named a virus that - hahahahaha) virus. Yes, we've become familiar with this disease. After 12 years of having kids, this was our first. Apparently, it mostly hits children 5 and under, and 2nd most, children between 5 and 10. Older children, teens and adults very rarely gets it, and if they do, they get it less severe than babies and small children. Interesting, since most childhood illnesses is worse in adults than in the children!
Peanut got it first. We went to about 4 shops in the days before our long weekend away (we went camping). I'm pretty sure she must've picked it up in that time. Fortunately, she didn't have a severe case. She was a bit miserable, couldn't drink for 3 nights (did drink in the day, fortunately), due to an ulcer on the tip of her tongue, threw up once and had the most awful smelling nappies (still have those, yuck!). And the rash, of course. No fever, strangely.
Boeboe got it about 2 days after Peanut, first complaining about her cheek that hurt (from ulcers). Then the rash on her hands and feet. Just a few spots. No fever. Apart from her mouth being really painful at times, a sore throat at night for 3 nights, and difficulty eating and drinking due to the ulcers, she was absolutely fine.
Then Mr N got it. Three ulcers in the mouth, and a rash all over his arms, hands, feet and legs. The rash didn't turn into blisters like some of Boeboe's did. And it dissapeared in less than 48 hours. No other symptoms. Not even a fever either. And his mouth ulcers wasn't as sensitive as Boeboe's was.
It seems as if Monkeyman has been skipped. No symptoms or signs so far. We'll see how it goes the next week. Both me and their dad had sore throats, and I have a few small mouth ulcers (nothing too painful), and a small patch of rash on my one foot. So I guess everyone got it, except Monkeyman! Clearly, whatever ails him, causing the tiredness, doesn't affect his immune system. Thank God for that.
Here's some piccies of how the rash looked on the kids. As you can see, quite different between individuals. I only realised it was HFMD when Boeboe presented with the ulcers in her mouth together with the blisters on her hands. Peanut refused me having look in her mouth, when I thought her lack of drinking at night and her excessive drooling was due to teething. Only once I knew Boeboe had ulcers, did I notice that Peanut had one on her tongue. Poor poppit.
Peanut got it first. We went to about 4 shops in the days before our long weekend away (we went camping). I'm pretty sure she must've picked it up in that time. Fortunately, she didn't have a severe case. She was a bit miserable, couldn't drink for 3 nights (did drink in the day, fortunately), due to an ulcer on the tip of her tongue, threw up once and had the most awful smelling nappies (still have those, yuck!). And the rash, of course. No fever, strangely.
Boeboe got it about 2 days after Peanut, first complaining about her cheek that hurt (from ulcers). Then the rash on her hands and feet. Just a few spots. No fever. Apart from her mouth being really painful at times, a sore throat at night for 3 nights, and difficulty eating and drinking due to the ulcers, she was absolutely fine.
Then Mr N got it. Three ulcers in the mouth, and a rash all over his arms, hands, feet and legs. The rash didn't turn into blisters like some of Boeboe's did. And it dissapeared in less than 48 hours. No other symptoms. Not even a fever either. And his mouth ulcers wasn't as sensitive as Boeboe's was.
It seems as if Monkeyman has been skipped. No symptoms or signs so far. We'll see how it goes the next week. Both me and their dad had sore throats, and I have a few small mouth ulcers (nothing too painful), and a small patch of rash on my one foot. So I guess everyone got it, except Monkeyman! Clearly, whatever ails him, causing the tiredness, doesn't affect his immune system. Thank God for that.
Here's some piccies of how the rash looked on the kids. As you can see, quite different between individuals. I only realised it was HFMD when Boeboe presented with the ulcers in her mouth together with the blisters on her hands. Peanut refused me having look in her mouth, when I thought her lack of drinking at night and her excessive drooling was due to teething. Only once I knew Boeboe had ulcers, did I notice that Peanut had one on her tongue. Poor poppit.
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| Peanut's arm and shoulder. A short while after this was taken, her hand was also full of spots. A few which blistered later on. |
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| A close up of some of the spots. Using a bit of imagination, you'll notice that some of them are raised, and most has a pinprick white head in the middle. |
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| Spots on Mr N's arm |
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| Other arm and hand |
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| Knee |
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| Foot (he worked in the garden during the morning, digging holes for the new irrigation pipes his dad is putting in, so excuse the dirtiness! The moment we noticed the spots, we stopped his working in the garden, and he was so hyped up about having an excuse to rather play computer games, LOL). |
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| The blisters that formed on Boeboe's hand. She also got them on her knee and foot, and Peanut got it on her hand. Again, excuse the muddy hands! |
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| And the very muddy toes! There's a few spots on the one foot (tiny red pinpricks). But the reason I post this photo, is because of the abrasions on her other foot. The one on the big toe is fairly deep. This is typical of what happens to her on a weekly basis, due to the damage the tethered cord did to the nerves leading to her feet. It makes her so sad, that she's always hurting, because of scrapes on the top of her feet. This is because she drags her foot when the signals of the brain doesn't reach the foot that it should lift the toes upwards, when stepping through. It hurts me, seeing things like that on her feet. |
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