The past year, and my little monkey and beautiful Boeboe

Someone said something to me yesterday, that made me realise that there's some confusion on what happened with Monkeyman's heartfailure, and why we are in the middle of trying to get a complete diagnosis for him. So I thought if that person is confused, there's most likely some of you that's wondering too. Too many things has happened in the past year, that I can't always keep track on what I said to whom or where. Which might leave gaps.

So this post is a recap. This is a timeline of the past 6 years, relating to Monkeyman (and some of it to Boeboe). Please read, even though it's long. This might fill in all the gaps, and explain how things came about, for both Monkeyman and Boeboe.

2008: Monkeyman was born with just a few small issues. Nothing serious. My friends and family recalls that when he was about 8 or 9 months old, I complained (over a period of time, not just once) that "the baby is abnormally tired". Physically. Once he could crawl at closer to a year, he would crawl around, playing, for a while. Out of the blue, he would press his cheek against the carpet (bum in the air, so cute!) and just lie like that. With his 1-year visit with his pead, I mentioned/complained about this. Again at his 18-month old/2 year old visit. I also mentioned it when my baby was ill at 10 months with scarlet fever, and at 14 months with bronchitis. I told every doctor I saw, about his abnormal tiredness.

2009: He was put on a few courses of iron supplementation, especially since his iron was exceptionally low at age 10 months. It made no difference to his tiredness during the day. What was really worryingly to me, was that even when Monkeyman was in the midst of playing an enjoyable game with his siblings or visiting friends, he would interrupt it to go and lie down. Even when his sister would be crying because he stopped playing with her (and he would do almost anything for his sister), he still had to go lie down. Once he could climb up the couch, he would lie on it (and not the carpet anymore). Usually, he needed about 10min of rest for every 30-60min of play. Sometimes, he needed about 30min of lying down.

2010: I took Monkeyman along with Boeboe on one of her numerous visits to the pead, and requested her to do bloodtests. For those doubting me, thinking that I'm making this "tiredness" up by using hindsight, you can have a look at the posts I made about it on this blog. You'll just have to believe that it was posted then, and I haven't edited it since. http://roadtosanmichele.blogspot.com/2010_10_01_archive.html

2011: After the bloodtests turned up nothing except maybe a problem with iron, we just supplemented for 3 or 6 months (can't remember how long). It made absolutely no difference. I told the pead this at one of Boeboe's follow up visits, but she never said anything. So I assumed there's nothing more to do, than accept that we have a very contend little boy that just can't be as physical as other boys. We took the consious, not easy, decision to drop this issue. We did not believe he was seriously ill, like having leukemia or such. We believed the bloodtests would've showed something if that was the case. We were in the midst of Boeboe's tethered cord diagnosis, awaiting her back surgery, and we didn't think putting a 3-year old through more tests was the way to go. So we dropped the issue.

2012. At every doctor's visit for illness, I still told them about his abnormal tiredness, and also about his chronic leg pains. No doctor every thought it reason enough to look futher into it.

2013. In April of last year, Monkeyman complained about heart palpitations 3x. I took him to our GP, not thinking it was anything much, because I myself get heart palpitations (which turned out to be SVT's and PVC's). At that point though, I thought it normal! The GP wasn't happy with what he heard on the stethoscope and referred us. That led to Monkeyman being diagnosed with pulmonary hypertension (PH) by a cardiologist. This was in May, and was a really, really hard time for me. My mom died of heart failure, so it was too close to home.

By June Monkeyman was diagnosed with sleep apnea due to enlarged adenoids, which caused the PH. The ENT was 100% convinced that this was Monkeyman's cause of his lifelong tiredness! We were so grateful to have an answer for that, and hoped that it could be treated to give him better quality of life. Something so easily fixed. After worrying about it for 5 years, at long last we had answers. We even asked the pead and other doctors over the years if it couldn't be sleep apnea, but their first question was ALWAYS, "does he snore?" and when we replied "No", they dismissed sleep apnea as a possible cause. He also never triggered the angelcare breathing monitor on which he slept the first 2 years of his life, so I accepted it.

By this time, Monkeyman has been going to school for longer periods of time, more times a week than the year before when it was very sporadical and short due to his social issues. His teachers noticed his lack of energy, the way he secretly would pace himself and how he would use sitting (reading, building puzzles) to recharge. They also noticed and told me to watch his paleness. They said that the moment when he gets tired, he goes all pale. I took careful notice of this, because I knew that over the years he had a very specific look on his face when he got tired. Going pale would fit into that. I also asked other friends and family to look out for this. The conclusion of everyone was that the teacher was right. He went physically pale. My sister said she and her husband have always discussed it between themselves how he looks physically ill. The pale face, the circles underneath his eyes, the withdrawn, tired look. The not-being-able to keep up with the cousins. But they didn't want to worry us more by pointing it all out.

Also around this time, Monkeyman walked into the sittingroom one day, and I asked him "why did you draw on yourself?". He denied it, and I just laughed because the evidence was clear! Or so I thought. Turned out that what I thought was fine blue lines drawn on the side of his mouth and chin, was bloodvesels. It looked.... strange. Funny. Unnatural. I showed the doctors/cardiologists this with every subsequent visit, and they all found it strange, curious, but had no answers about it. It appears on both sides of his mouth, but the one side usually dissapears some of the time. The other side never. It just goes lighter and darker, seemingly with him having a "good" day and a "bad" day. This really bothers me. I don't know why. It's just freaky the way it appeared out of the blue and stayed.

In June 2013, Monkeyman had an adenoidectomy. His recovery was awfully long and difficult.

By August 2013 he was declared free of the PH by his cardiologist!! We celebrated. But asked the ENT why his tiredness wasn't better, as he promised us it would be? The ENT was at a loss, and said we need to look for answers. There must be another cause. This saddened us. The cardiologist just lifted her shoulders and said we should just let him rest when he has heart palpitations or gets tired. She was clearly done with us.

So we decided to keep the appointment I made months before with a 2nd cardiologist in Sep 2013. I hate doctor-hopping, so it was a very difficult thing to do. From Sep 2013 until February 2014 (for 6 months), she watched over him, seeing him 3 or 4 times. She took numerous x-rays of his lungs over that time, as well as doing complete bloodtests, adding it together with those done during the adenoidectomy in June. She was building a complete picture of him. There was one thing that she picked up in every visit. A thinned left ventrical wall, and a function of 34-44%. She never explained these 2 findings. Just told us about it every time.

With the visit in February, the cardiologist told us that the function is down to 30%. She also prescribed medication for his heart palpitations and to see if it helps the tiredness, and while writing the script, said "This will also help for the heart failure."

That sentence will haunt me for the rest of my life.

From that, coupled with a function of 30%, we derived that Monkeyman is in heart failure. I'm not sure why she said it. Looking back (isn't hindsight a bitch!), she never said "your son is in heart failure". She also never explained the function of 30%. She spends ALOT of the time during a visit on doing a thorough sonar. Which I think is fantastic. So we usually sit quietly in one corner, not making any noise, not disturbing her. So there's not alot of talking, and very little explaining from her side. I find her really intimidating, so I struggle to remember what questions to ask. She gets very easily affronted when she feels questioned, so I tried to keep my questions to the minimum. Just grateful that there's a doctor that's trying to help my son.

So we walked out of that visit, believing our son was in heart failure, with a heart function of 30%. My mom died about 3 months after her function fell to 25%. So I made assumptions based on my experience with her. Like the fact that we thought those 2 functions were the same thing. Usually, whenever a doctor talk about heart function, he means the ejection fraction. Which is what was low in my mother. BUT, it turns out that this was NOT what was low in my son. It was his shortening fraction that was 30%. NOT his ejection fraction. SF, not EF. This is a MAJOR difference. The one is supposed to be much lower, the other should be much higher. Both can be indicators of heart failure, depending on their value. The cardiologist said that for his age, it shouldn't be below 38%, so she worried about why it fell to 30%.

I found out about the fact that it was SF, and not EF, when the cardiologist phoned me to ask how it's going on the medication more than a week later. She didn't want to explain much, but did say no, the 30% function is NOT the ef. Shortly before this call, earlier the morning, the stress and uncertainty and worry about my son being in heart failure, drove me to make an appointment with another cardiologist. We could see him the very next day, since he had a cancellation. So no time really to comprehend what the EF and SF meant. So I asked this new cardiologist, and he explained it clearly to me. After he had a thorough look at Monkeyman, he said that he is definitely NOT in heartvfailure. The function that's low, is definitely the SF, not the EF. And that he would immediately stop the medication if he was us. Accordingly to him, an SF of 30% wasn't something to worry about. He also could not see the thinned heart wall that the other cardiologist saw. And he said we HAVE to go to the pead (or someone!) about his bloodtests that was continually abnormal over an 8 month period.

So I made an appointment with the pead, and we cancelled the follow up with the previous cardiologist. We're not 100% done with her. We believe she did ALOT of good. She took blood tests every 2 months for 8 months, which showed a complete picture that a once off could not give. She also tried to help, and she will still continue to help, I believe. We also can't just forget about the thin heart wall. Our GP explained to us that it's a very difficult thing to measure in a heart, because you have to take a snapshot of a fast beating heart, at exactly the right moment. This cardiologist measured it 3 times, getting a low result every time. The 2nd cardiologist measured it once, and got a normal result. So we're most definitely going to follow this up with the cardiologist in time. We just cancelled for now, because we don't see the value of exposing Monkeyman going to 2 specialists at the same time, for the same issues (his tiredness and bloodtests). He still gets the heart palpitations, but for now we've decided to just leave that one be as well. At some stage, we'll request a 24hr holter monitor to see if whatever I have, could be his problem as well. SVT's and PVC's. So for now, we're ignoring the heart palpitations and thin heart wall, secure in the fact that the last cardiologist said we really do not need to worry about his heart being the cause of his tiredness.

I'm not angry at her. The cardiologist. She has extremely personal things going on, which she told us about at some point. I'm certain that it would've influenced her. She probably wasn't sleeping well and she was under extreme stress due to it. So maybe she didn't mean to say "this will also help with the heart failure". Maybe she didn't mean to say it out loud. Maybe she meant it in a whole other setting or whatever. I will never know. It caused me at least a hundred more grey hairs, and 2 weeks of sleep. But it's over and done with. I accept my part in the whole soddy afair. I made assumptions on the heart function which I shouldn't have. Based only on my experience with my mom, without doing any research (no googling). I was just so so happy to hear that my son is NOT in heartfailure. I'm still so happy. Those 2 weeks... I don't want it repeated, ever.

So the pead looked at the blood tests, called a pathologist collegue/friend for advice, and together they deviced a plan of action. They still don't know what causes the tiredness. They also don't know why his blood tests shows a continual lack of lymphocytes.

That's where we are today. March 2014. With a child that baffles the doctors. Again. Sadly so. Half of it is based on us, his parents' word and all his family, friends and teacher's versions that he's too tired for a normal child of his age. And the other half is black on white blood tests results, taken over a stretched of 8 months (4x). This 2 issues is now under investigation by the pead. We wanted this issue resolved when it became apparent that it's a problem at school in June 2013. We wanted it resolved before he goes to grade R, which is one of the biggest reasons why we went to the cardiologist in September 2013. Unfortunately, he is now in grade R (like Kindergarten), and it IS influencing him. So now our goal is to get him properly diagnosed before grade 1. It leaves us with 8-9 months. Not alot of time, based on how long things take. :-(

Due to Monkeyman (and Peanut and Boeboe)'s colds, I had to postpone the clinic visit. They could only fit us in on the 25th of March. So next week we're repeating the baby vacs for Monkeyman. There after we need to wait 3 weeks for his body to make anti-bodies, then we'll test those with a blood test. I have no idea what this will tell the pead. I'm sure she has her reasons why she's putting Monkeyman through it all. After getting those results, we'll probably hear what we'll do next.

Just one more thing. About Boeboe. I did not consciously decide to take her issues futher during this time of struggling with Monkeyman. In 2011, shortly after her back operation, the occupational therapyst and her boss urged me to take Boeboe to a geneticist, as well as to Prof Minnie in Potch for metabolic testing. Boeboe was done, hey. She was tired, so very tired. Of doctors, of appointments, of struggling to keep up at school. The operation took everything out of her. And me. So I called it quits. I remember calling the geneticist, but she didn't answer. That evening, me and dh discussed it all. And we decided that's it. That's a sign. We're not taking things futher. We don't WANT to believe that Boeboe had anything more than a tethered cord. We couldn't face more tests, more appointments, more stress, more heartache. We needed normality. Boeboe needed normality. So we decided that evening, to drop it all. To only go for her follow up visits with the neurosurgeon who operated on her, and just support Boeboe in grade 2, making sure she pass and that life turns back to normal. Which worked beautifully. It did, and things settled into a good, easy routine for the next 2 years. We were all happy. All stress-free (except for normal life stress). We all recuperated and thought life was good. Until Monkeyman complained about the heart palpitations almost exactly 2 years after her operation.

Still, we just concentrated on Monkeyman, and helping Boeboe in grade 4 with exams. Her first term went well. Her 2nd she failed. This was in June 2013, shortly after Monkeyman's adenoidectomy. We made an appointment with the school in August 2013 to discuss this (after the July winter holidays). They suggested time conscessions, and requested us to see her psychologist again for an updated report on her abilities and problems (the one we had was dated from 2011, when the phsychologist said we'll need it for time conscessions at some point in the future).

End of Sep 2013, the psychologist evaluated Boeboe to see where we are with her. The news was devastating to me. She picked up an anxiety disorder, some psychiatric markers, psychotic episodes (this was a few weeks later), as well as a maturity level of 3-4 years behind her peers. She also found ample evidence for applying for conscession with the Department of Education, something she worked closely with the school to make it happen.  She urged us to make an appointment asap with a psychiatrist, which I did. We got one for mid-October, and my world crashed down on that day. She was diagnosed with a complex host of psychiatric illnesses and issues and was put on an anti-depressant, and eventually an anti-psychotic. We were also referred to the head of a psychiatric facility, because the psychiatrist told us she believe our daughter may have a chromosomal defect, called VCFS. The professor thought the same and told us he'll add her blood to his study, which will test for this. Both of them urged us to make that call to the geneticist again.

Which I did. We saw her end of October, and she agreed that there's probably a genetic cause underlying all of her issues. She wasn't sure though that Boeboe fits the VCFS bill. In November, we drew Boeboe's blood for the Professor's trial. By which time it was summer holidays where everything comes to a grinding standstill in South Africa until mid-January.

So that's where we are now. The geneticist has asked us if we don't think it's time to privately test for VCFS, since the trial study is taking forever. And until VCFS is excluded, she doesn't seem to want to test for something else yet. Probably based on the fact that the psychiatrist really believes it is VCFS.

So that's how it came about why we're in the midst of this crazy search for diagnoses for both Monkeyman and Boeboe at the same time. I didn't plan either of it. I didn't want either of it. It's breaking my heart every.single.day. I cry every.single.day. I despair every.single.day. The stress is unbelievable. Everything the kids do, makes me wonder - is that okay? Is that normal? Are they showing signs of a chromosomal defect? Of psychosis? Of illness because of the low immunity? It's EXAUSTING. It's AWFUL. The worry is constant. I'm strung as taught as a violin. I don't sleep well. I haven't slept properly in about 10 months, since all of this started. I hate how busy all of these appointments has made our lives. I hate driving, so going to appointments is pretty awful, to me. Trying to fit it all in, with their schooling in the mornings is stressful. With homework and exam times. Holding your child for the umpteenth blood test is NO FUN. It's as awful to me as it is to any other mom. I don't enjoy it. I don't get any kicks out of it. Sometimes, it's all I can do to prevent myself from crying with them. Being strong for them, being strong for my husband whose struggling through all of this, it's taking its toll. I long for our lives of more than a year ago. When we didn't know about the pulmonary hypertension, the low lymphocytes, the psychosis, the anxieties, the possible chromosomal defects. I long for those uncomplicated days when our biggest worry was if Boeboe would have an accident or a temper tantrum or if Mr N would have a seizure. When he was diagnosed with epilepsy 7 years ago, my world fell apart. Thankfully, I didn't know how much worse things would get. Thankfully. I might just have run away.

So please tread a little more carefully around us. We're fragile. We're broken. We don't know how to pick ourselves up. We don't know how to continue. How to press on. We want answers for our children, so that we can get them the best possible help. We want them to have good lives. We want Monkeyman to go to school without being SO tired. We want him to play with his friends, without needing to stop half-way through to go sit down. We want Boeboe to pass mainstream school, like her friends and siblings. We want her to be happy and carefree, not struggle with psychosis and scary things. We don't want her to be so paranoid, so filled with anxiety, so sad and angry all the time. We want her to love life, to be as happy as she is when she plays with Peanut. We want life to be normal for both of them. We want life to be easy and good for all six of us.

We just don't know how to get to that point. We take it one step at a time. We follow the advice of the specialists. In the hope that one day, we'll get back to that point of believing our children will be fine. That they'll have long, normal, happy lives, with a bright future again. Until we get to that point, please treat us gently. We're fragile.