My baby boy was born perfectly 5 years ago. His pregnancy was without any complications. After birth his bloodsugar took 2 days to stabilise, but apart from that, he was just fine. Checked out 100% by the pead. After a few days, he started to get yellow, but the pead wasn't worried at all due to our history of Gilbert's Disease (a mild, congenital liver disease). The jaundice worsened and stayed longer than with the eldest 2, but he never had a bloodtest. His count wasn't high enough to put him in danger, so we just kept an eye on him. After about 4 months, the yellow colour faded.
Before age 1, I noticed him being very tired after he started crawling. Not sleepy tired, but physically tired. He would still sleep his 12 hours at night (interrupted about 3-4x for milk) and two naps of 2 hours every day. Exactly like his older 2 siblings did. But inbetween, he would crawl around, then press his cheeck on the carpet as if he's tired. But if I held him, he would just lie a while in my arms, then struggle to get upright again and go and play. He wouldn't fall asleep if it wasn't naptime. Shortly after I noticed this, he got severly ill with scarlet fever at age 10 months. The dr at the ER suspected some other awful illness and needed to do bloodtests. So I requested an iron count because of his tiredness, while they needed to draw blood in any case. It came back extremely low at something like 1.6 (normal is around 10-12 I believe). Even at my worst, my iron was never that low!
So we gave something like 4 or 6 months of iron supplementation. It improved the paleness in his face, but did nothing for his tiredness. At 14 months, he got bronchitis and was put on his first round of antibiotics. He got better very quickly but had this lingering cough for a week or so. I thought nothing of it, because a dr once told me that after bronchitis it can take up to 3 weeks for the coughing to stop.
At that point, Monkeyman somehow were able to remove the cover of one toy's batteries. It contained 3 small watch batteries. Or were supposed to. When I noticed him going all quiet, I had a look at the toy he was playing with, and saw the open batteries. There was 1 battery lying next to the toy. I opened his mouth, and found another. The third was missing. I search quickly to see if I could find it, then googled to see what I have to do. Advice was to take him to ER, so off we went. The dr had a listen to his heart/lungs, and sent him for x-rays. The dr had a look at it and came to tell us that she's not worried about the battery at all (they couldn't even see it on the x-rays, so he most likely didn't swallow it), but that his lungs sounded terrible, and the x-rays confirmed her suspision. He had bronchopneumonia!!! I were astonished. Here I thought he was healthy! Apart from the little dry cough, he had absolutely no symptoms. No fever, his appetite was normal, he slept well, his nose was fine, he wasn't clingy or teary or anything that could've pointed to him being ill, or that ill. They wanted to admit him, but because he really had no other symptoms, and was eating and drinking absolutely normally, they allowed us to take him home since they were having a severe Rotavirus outbreak in the pediatric unit and the dr didn't want him exposed to that. At home he was just fine. The coughing stopped within days and he never showed any more symptoms. I did take him for a checkup so that they could listen to his lungs (no repeat xray), just to make sure he's healthy afterwards. It still baffles me that a child could have pneumonia with almost no symptoms?!?!
Rest of that year he was an almost normal toddler, except for the persistant tiredness. My friends recall how I've ALWAYS complained that he just ain't energetic nor active. And that he wanted to lie down on the couch constantly. That he could play happily for half an hour, but then wanted to lie down for a while. Not being miserable or clingy, just physically drained. I asked the pead about this at every visit, and she never took it seriously.
By age 2 he got measles. He was really ill for 4 days with high fever, then got the rash and was just fine. No big deal at all. He was put on antibiotics during the fever time, because they thought he had a bacterial throat infection. So there was no secondary infections. He did have a curiously long case of the rash. For 3 weeks new spots kept on appearing, but since it didn't bother him, I left it be.
When he was 2.5 years old, I've been complaining to my husband continuously about the child's lack of sustained energy. So when I had to take Boeboe to the pead about her issues, I told him I'm going to make an appointment for Monkeyman as well. Maybe because I took him in specifically FOR this issue, and not just asked in passing like I used to do at a normal check-up, the pead took me more seriously and ordered bloodtests. It was for thyroid, white blood count, sugar and iron. She suspected iron deficiency.
The bloodtests came back absolutely normal! Iron as well. His seratonin was a little low (20, instead of 27-300+). She mentioned that it's possible that his iron is in fact the problem of the low seratonin, so again we were prescribed 3 months of supplement. It made zero difference. The only thing it helped with, was that instead of waking about 3x a night, he would wake 2-3x. So maybe the seratonin was back up to normal. But his daytime tiredness had NO improvement. I reported back to the pead and she brushed it off as "his tests are all normal, there's nothing wrong with him, must be a personality thing". Because his personality WAS typical of his dad, I accepted that answer. He indeed was a quiet, contend, happy little being. He could easily sit and colour in for 30 minutes with his sister. Or sit and play with his cars on the carpet for 30 minutes, without needing to run around and expend energy. We just assumed he is who he is.
Still, it bothered me because I've HAD another, older boy. A boy that was also quiet, contend, easy. The total opposite of an ADHD child. But still, he was all BOY. All normal. And at age 4-6, like other boys, he would run and jump and yell and just never sit still for longer than a few minutes (except when watching tv or playing computer, of cause!). He wouldn't walk to the bathroom, he would dash. He wouldn't walk outside, he'd run. He wouldn't just stand and talk to me, he would jump up and down or move his body in some way. That's how I know 5-year old little boys, even those who has quiet, contend personalities.
Monkeyman wasn't like that. Not at all. But, he wasn't so bad that I took him back to the drs. I kept the thought in the back of my head that he has some kind of abnormal tiredness, but I didn't think it so important or bad or obvious that I thought it warranted another dr's visit. Though, with every normal visit to the drs for anything else, I would always mention 2 things. His tiredness, and the legpains. The legpains started when he was about 1. He was exceptionally accurate at pinpointing where he hurt since he could barely even speak. He'd always immediately be able to point to the "ouchie" with his finger. Be it a bump, a cut, a scrape, a headache, a tummy ache, etc. I never caught him putting it on for any reason.
He complained about legpain an average of about once a week, for 4 years. Sometimes, it would wake him up and he'd cry heartbreakingly sad. In obvious horrible pain. Other times it would be in the morning, or during the day. Sometimes it would be his shins, his ankles, his knees, at the back of his knees, his feet (especially on the top), etc. I can't remember it ever being his thighs or calves. So it's always bones, or joints. Never muscle. So not typical of growing pains. But all the drs just checked his legs out, and said there's nothing wrong, must be growing pains.
He wasn't an ill child. Apart from the measles, scarlet fever and pneumonia/bronchitis episodes, I can't remember him getting more than the occasional cold. I took him off his reflux meds for a while last year to check how he reacts, and he immediately got the one cold after the next, so we put him back on and he was fine. He's on reflux because as a family, we all have GERD. He was diagnosed at birth, and again, based on family history, we knew he probably wouldn't outgrow his either.
A year ago, shortly after turning 5, he complained about his heart beating fast. I just said "oh, don't worry, that's fine" and he was happy with the answer. But then, a few days later, he said the same thing. He was sitting down, so it wasn't from excertion. So I put my hand on his chest and his heart was beating really hard. It mildly concerned me, but he seemed fine so again I brushed it off. When he complained the 3rd time a few days later, I could see his heart beating so hard that his shirt was slightly pulsating! I thought it better to check it out, even though I still didn't really thing anything is up. I was so little worried, that I overslept the next morning, totally forgetting about the dr's appointment! I felt absolutely awful, but fortunately they were able to give us another appointment for the next day.
We went to our trusted GP, because we knew if it was really something, he'd refer us. If not, he'd tell us straight not to worry. That was what I expected to hear, so I was extremely surprised when during the exam, the dr told me that his heart is beating too fast and very loudly in his ears (through the stethoscope). He said he believes that the heart itself is probably fine, but that something is causing it to beat so hard. He had no idea what it was, but thought it could be some kind of illness, like thyroid, etc. He said bloodtests seems to be indicated, but he'd hate to put the kid through that, and then refer him to a pead who'd also want some bloodtests. So to spare him going through it twice, he decided to just refer us to the pead. He wrote me a little sealed letter to give the pead.
From my description, the pead wasn't worried. But once she read the dr's letter, she said we'll have to take him to a pediatric cardiologist. She also did an examination, declared him fine, but with a possible heart defect, because apparently, palpitations like that ain't normal in a child. They should not feel their heart beat so hard and so fast. She said she doesn't believe it's an illness like diabetes or thyroid, since all his bloodtests when he was 2.5 checked out normal. And he's not presenting with any other symptoms that concerned her.
Fortunately the pediatric cardiologist could see us within the week. She did an EKG, heart sonar (echocardiogram) and clinical evaluation. Her findings were that his heart is structurally normal (no congenital defect or disfuntional valves, etc. Unfortunately, she picked up signs of pulmonary hypertension on the EKG, the echo and the clinical evaluation. His right ventricle (heart chamber) was enlarged and working way too hard, his pulmonary artery(ies) was enlarged and pressure was measuring at 35 mmHg. Anything under 25 is normal/acceptable. I believe around 12-14 is about the average for most people. 25-39 is called mild pulmonary hypertension, 40 and up is moderate. And somewhere over 70 I believe, counts as severe. So Monkeyman had mild pulmonary hypertension, based on the echo. Though, from what I read, it's on the higher side of "normal" for sleep apnea as a cause. An echo isn't very reliable either. Usually, people diagnosed with pulmonary hypertension needs a heart catherisation to make have a definite measure of the pressure. The cardiologist didn't believe Monkeyman needed such an invasive test at this stage, since she believed his pulmonary hypertension was reversible.
Both she and the ENT she referred us to, thought that Monkeyman's PH was due to sleep apnea. So once the sleep apnea was cured, the PH would reverse. The ENT said he had all the classic signs of sleep apnea. Bad teeth due to mouth breathing at night, "adenoid face" (the upper jaw and nose and palette doesn't develop as it should, because there's no airpressure in the airway), etc. The x-ray he took showed clearly enlarged adenoids.
A few weeks later, the ENT took the adenoids out during a small surgery. He said it was blocking over 90% of his upper airway. The ENT was positive that Monkeyman must've had sleep apnea due to these enlarged adenoids, and that it will be gone now that it's out. And that now he's getting a much better night's sleep with normal oxygen, his PH will reverse.
We waited for signs of the immediate and big improvement we should've seen accordingly to the ENT, but it never came. Directly after the operation, he was really badly off. Extremely lethargic and listless. It took 4 weeks for him to recover back to what he was before the surgery.
A few months after the adenoidectomy he had his checkup with the cardiologist. The PH was cured!!!! He's had 2 echo's, with 2 different cardiologists, and both showed all the signs has dissapeared or gotten less. The arteries has shrunk, the right heart wasn't enlarged anymore and the returgitation got much better. The pressures fell from 35 to about 16. Though, at one point it was back at around 24. But no other signs of the PH returning.
We took him to a 2nd cardiologist, because the first just shrugged and declared his heart fine when his PH was getting better, and we wanted to know why is the child still so tired? He also still had heart palpitations. The 2nd cardiologist saw him over a time span of 8 months, and said he has a thinned left ventricle wall and his blood tests were continuously abnormal. A 3rd cardiologist gave him a check-over, and declared his heart fine, but urged us to take the blood tests up with his pead.
The pead was puzzled by the blood test results. She said his lymphocytes are continuously low, but nothing else seems to be wrong much. His transferine was high for a while, but that recovered. So it's not anaemia, and he also doesn't have the blood profile for leukemia or such. She phoned a pathologist friend/collegue and they decided together on what needs to be done. Firstly, they did a battery of bloodtests, that revealed Monkeyman had never developed anti-bodies to his baby vaccinations. So we had to give those to him again. Fortunately, this time he developed the necessary anti-bodies.
His blood tests were negative for 2 auto-immune disease markers, and he has absolutely no allergies. Not the normal ones, like cow's milk, animal hairs or pollen, and also not obscure ones like preservatives, colourants or gluten. I have to say, that's quite a relief to know.
Between all of this Monkeyman has started grade R (Kindergarten). He's struggling. It's difficult for him with the tiredness. He complains that his friends doesn't always want to play the more relaxing games that he wants to play. He complains that he gets really tired in class when they need to do and finish work projects. He complains that he's the only one in class that's always so tired (and wishes he wasn't). In the afternoons, he mostly lies down. For about 2 hours at least, after school. Just lying. It's not easy to see, it saddens me. His childhood seems to pass him by, and I feel helpless. At least the doctors are actively trying to find out what's wrong with him. It just takes forever.
The pediatrician put him on Vitathion (ingredients: multivitamins, Glutathione, Calcium Inositol Hexaphosphate and Sodium Adnosine Triphosphate). It's a medication in our country that helps provide the body with energy used by the muscles. It took a while, but after some time, we saw a difference in his tiredness. It only works for as long as he takes it. On the days we don't give it to him, he's back to square one. It also doesn't work every time we give it, and it doesn't work completely. It just helps. Unfortunately, this apparently makes them (the pead and some collegues whom she spoke to) think that there's something going on with Monkeyman on cellular level. Because the glutathione helps with metabolism, and the ATP in the vitathion helps restoring energy to muscles. Somehow, he seems to not have enough energy on cellular level, I guess?
The pead referred us to someone who works with these things as a sideline. She's also a pediatric pulmonologist. We saw her end of May, and this is what she found/said:
- Monkeyman's liver is a bit enlarged and worrysome
- She's pretty sure he has a mitochondrial problem/disease, and she's referring us to a specialist in that, which would probably lead to a muscle biopsy.
- She said that it is giving him a muscle weakness, and that's what's causing the tiredness.
- She said he aspirates his reflux, and has upped his medication. This is what was on his lung x-rays all these months/years. It's good to know. And hopefully we caught it before permanent damage is done. I'm grateful that he hasn't developed pneumonia from it!
- She ordered a sleep study which we'll probably do some time in June/July.
- She believes our whole family has some underlying condition causing all of these random "issues". She believes Boeboe is the centre and best "sample" of whatever this condition is. She believes Peanut might also be affected.
- She excluded asthma, so that's a relief. At least one thing my little boy doesn't have!
Update November 2014:
Monkeyman had the sleepstudy, and although there were a few sleep apnea spells, it wasn't bad enough to be classified as such. Yay!!! So basically, his sleep study was normal.
The cardiologist explained to us why the mitochondrial specialist is so busy, and why not even with the Pulmonologist's prompting, could we get an appointment so far. The cardiologist rather chose to spoke to the mitochondrial dr over the phone, and they've decided Monkeyman needs a blood test. This will be done by mid December. They need to give it 2 weeks, since the cardiologist put Monkeyman on Q10 and Carnitinene, in the hopes that it would improve his tiredness. He needs to be off these medications and his blood clear of traces of it, for an accurate test. Once we have the bloodtest results, we would most likely begin to organise the muscle biopsy. I'm hoping it can be done early next year, though with school starting again in mid-January, we'll have to see what is best. He starts at a new school, so we want to make sure he adapts and is happy there before disrupting it for him again.
Update April 2016:
Gosh, a long time that I forgot about this page! Monkeyman's bloodtest showed no sign of mitochondrial disease. We were able to see the specialist, and she too couldn't find any signs, so it has basically been ruled out. She noticed him going pale for absolutely no reason while he was sitting next to her at the table, drawing some pics. She had no idea why that would happen and sent us home saying he's just fine. Yeah right.
So we left everything. What choice did we have? It was a good year. We concentrated on settling into the new school and the new routine with me working parttime again. His symptoms didn't improve at all though, as time went by. It was like always. Tired tired tired. And physically weak, compared to his peers. Someone adviced us to see a rheumatologist, which we did. She diagnosed Monkeyman (and his dad!) with Joint Hypermobility Syndrome. We were referred to a bio-kineticist, who confirmed the diagnoses, and also noticed that our daughter had hypermobility too, and even worse than Monkeyman. After the visit, we left everything be again. We tried exersizing to strengthen Monkeyman's muscles, but it was just making life worse for him. It tired him out so much. We also did a muscle enzyme test, which was negative. The rheumatologist had a look at all his bloodtests, and said that it seemed like he has an autoimmune disease where the body destroys his own neutrofils in time, since the count is going down as time goes by. She said it will cost us too much to determine what the problem is, and there's nothing they can do about it in any case. If he's a teenager, he might fall ill regularly, by which time they will prescribe prophalactic a/b's. Until then, we just ignore the issue.
Since February this year Monkeyman has been loosing weight. Our GP referred him to a gastro-enterologist, which we'll be seeing in a few days' time. He also speculated that Monkeyman's tiredness is caused by a metabolic disease. He's wondering if his body isn't having trouble converting carbs into protein, so he has been put on a high protein/low carbs diet, but so far I haven't noticed much difference yet. It's early days though.
Update August 2022
Monkeyman was diagnosed in 2016, age 8, with SSS. Sick Sinus Syndrome. The sinus node on his heart is damaged. This is permanent, irreversible and incurable. The only hope is eventually a pacemaker, but only when he cannot cope without it anymore. My believe is that during the 5 years of having unchecked pulmonary hypertension and his heart enlarged, this damaged the sinus node. So the pulmonary hypertension has resolved, but left damage. Which is why he never seemed to get better even after the adenoids were removed.
He is now 14. He had to leave formal schooling at age 12, when he couldn't cope with the energy demand anymore. He is doing well, as long as we do not overload his work schedule. He is still the contend, sweet, peaceful and kind boy he was when he was little.
I appreciate your posts. I hope you've found some more answers to help you understand what is causing these problems for your son. I'm not a doctor, but I recently had my genes tested with 23 and Me, and then sent the raw genetic data to strategene.com (org??) and got a report, and found out I had some genetic mutations that explain my own health problems, like a problem with sulphur in my body. I'm going on a low-sulphur diet, and i believe this will help me. If this isn't something you've tried yet, it might be something to consider. All the best to you and your family.
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