That's what Monkeyman has.
We have a diagnoses.
At long last.
I'm tired. So tired today. Emotionally overwrought and drained. Yesterday, I was ecstatic. Only a mom (or dad) that went through something like this, can understand being ecstatic to get that diagnoses.
We always knew something was wrong. People called me names (yes, I was called crazy and psycho by a supposed friend), because I was searching for answers for my family. We knew there was something wrong with Monkeyman. We lived with him. We saw it every day. We were the ones having to dry his tears because his legs ached. We were the ones who had to watch him lie down on the couch, because he were too tired to continue to play with his friends, siblings, even us. We were the ones that saw him lying down in a restaurant, while all the other children were playing in the play area - a child's dream. We were the ones who had to see this disease drag him down. The ones that had to hear how tired he is at school. The ones that saw him pale and exhausted. It was never a question (to us) IF something is wrong. But what's the NAME of what's wrong. Only a parent in our situation would understand the need to have that label.
Now, we have it. Out of the blue. Unexpectedly.
A friend told me a few days ago "Some doctors judge, instead of help"... Yes, that's precisely how I felt after our visit to the supposedly great dr Mitochondria. She added absolutely NOTHING to our lives. Just relieved us of some money, and caused me to stop looking for answers. Because she judged, instead of helping. Oh, she agreed something must be wrong for him to be so tired, and to turn pale while sitting still at a table, while colouring in. But she refused to entertain the thought that it's a medical condition she can't figure out. She created the impression that we'd be silly to keep on looking, because clearly it's not really something or anything important. Yes, I'm angry. Angry at her, angry at that supposed friend who called me a psycho, angry at the situation that made me give up. Angry at myself, for wanting to give up. Mostly, just angry at myself. I fought for Boeboe, and almost gave up on Monkeyman. :-(
Fortunately, my husband never gave up. A friend of his urged him to take Monkeyman to a pediatric rheumatologist that she knew was good. To become a pediatric rheumatologist, you have to be a GP, a specialist physician, a rheumatologist and a pediatrician! You have to be good. And she was. Good to us. Good for us. Good for Monkeyman.
She said as I recited his history, that she was already thinking "hypermobility syndrome". He ticked all the boxes!! After her clinical evaluation, she was certain. And not only him, she also diagnosed his dad!! It's a genetic disease, he inheritted it from his daddy. His dad knew everything about always feeling tired. Even as a child. Maybe that's why he wanted to keep on looking for answers. He wanted a better life for his child. He didn't want him to feel like that, every day, rest of his life. So he kept on fighting for his son. I'll forever be grateful to him, that this time, with this child, he was the one that kept on fighting. When I couldn't stand the social pressure anymore. The guilt other people puts on you. The drs that judge, instead of help.
So what is Joint Hypermobility Syndrome or JHS? Well, what makes us so excited and happy to have answers at last, is the fact that it's not lifethreatening!!! Monkeyman WILL BE OK!!! Yay yay yay yay yay!!!
Unfortunately, as it's a genetic fault, it's also not curable. You live with it. But now that we have answers, we can do our best with what we have to deal with!! For example, the dr said he must immediately get to a biokineticist, that will strengthen the right muscles. This can help with the tiredness, as well as prevent conditions like migrain to appear. She said my husband could've been spared that, if he was diagnosed as a child and taught how to strengthen the necessary muscles. We also now know why Monkeyman's reflux is so particularly bad, and why he is on such high doses for his age. She says (like the pulmonologist) that he has inhaled his stomach contends all these years (it's clear on the x-rays accordingly to her), and we must always treat it aggressively. Some things he has to learn to manage on his own, and find the best ways for his body. Like the constant vague nausea he experience. Some things we can try and help to improve, like the tiredness. He already paces himself very well though. When he's tired, he must rest (he does) and when he has rested enough, he must do something (which he does). We should help him to participate in sports as much as he can and wants to (which we does).
He also has a second diagnoses, though we don't have an exact name yet. He has an autoimmune problem where his body seems to attack his own neutrofils. She says we can do the necessary tests to find out exactly what type and get a name, but it will be R3000 - R4000 and a name will just be that. A name. She says the pediatrician has already tested everything that something can be done about. All tests that remain, are for those that they can do nothing about. She says it seems like his neutrofils are diminishing as time goes on. Usually such children falls more and more ill during their teenage years, and then he'll need to go on prophylactic antibiotics. But until then, the a/b's will just do more harm than any good, since he's quite a healthy child at this point. Very healthy in fact. So for now, we declined to spend the money just to get a name, and we just accept he has an immunity problem that may cause him problems in the future. If and when that happens, we will take it from there. She says, the immunity problems apparently goes hand in hand with the hypermobility syndrome, but how and why, they don't know yet.
I still have a load of research to do. I can google again!! I can look at symptoms and treatments and recommendations. It makes me happy. To know that we can finally have some answers. For now, there's two things that stood out for me.
The first is that 10-20% of people have some hypermobile joints. But most of them, has no other signs or symptoms. A small group of them, has symptoms other than being able to bend your joints into apparently impossible angles. Some people, like Monkeyman and his dad, has tiredness, stomach issues, nausea, GERD, etc. And the hypermobility itself isn't even so severe. They can do slightly freakyish things, but nothing too weird. Like Monkeyman has the typical Y of JHS. His arms bends more than 180 degrees as the elbows, not a straight line as it's supposed to when you make a Y. He also has the little "angel wings" - his shoulder blades.
Part of what causes some of the symptoms, is the body that overreacts for some reason, and floods itself with adrenaline. This gives a burst of energy, and when it's depleted, a wave of exhaustion. Until the child has rested and gets a new burst of energy.
His legpains are most likely caused by muscles that's overworked because it has to support the ligaments that's failing to do their job, and counteract the joints movements. The poor muscles can't keep up and gets injured. Then heals overnight, just to get injured again the next day. And the next. Every day, all the time. You can just imagine how the muscles ache. So my instinct that said "this is NOT growing pains", was right. We were right. Something was clearly wrong with our boy, it wasn't our imagination or because we wanted to find something wrong.
Interestingly, anxiety is also listed as a symptom of Joint Hypermobility Syndrome. As is tethered cord (or spinal issues). So guess what.... the dr asked us about our older two kids as well (they were in school and did not accompany us to the appointment. And she's pretty sure that at least Boeboe has the same disease, but most likely Mr N as well. <*insert totally shocked little face in here*>
I still need to process this. Then the dr asked if we had any photo's of the 2 kids on our cellphones. She gave Boeboe's photo one look, and said "She has the Marfan look". She said as I was speaking, she was starting to think our daughter may have that. And after the photo, she believes it's a very likely possibility. She asked me to measure her armspan at home, and if it's longer than the height, chances are good.
So we measured her last night. Her height from head to heel is 141cm. Her arm span from fingertip to fingertip is 143cm. Just a little bit longer. The very surprising thing is that not only is hers longer, but her dad's too! He is 179cm, and his armspan is almost 187cm. So yeah. What to make of that....
The dr told us to take Boeboe to Monkeyman's cardiologist, to evaluate her for Marfan Syndrome. Gosh, this is scary and overwhelming. We thought after giving up on finding what's genetically wrong with Boeboe, that we're ok with not knowing. That we're done with doctors for her, for now. Done with this rollercoaster of hoping, praying, either for answers or for something to be nothing. We didn't want to go through that again. We couldn't face the continueing process. So we stopped and accepted it and moved on. Now... well, what would you have done? The things is, Marfan can be deadly. Apparently, not being diagnosed gives you a life expectancy of 32. Once diagnosed, the medical treatment prolongs this to an almost normal life expectancy. So if, IF, this is Boeboe's final diagnoses, shouldn't we know rather sooner than later? How can we take a chance on her dying early because we didn't want to know if she has Marfan's or not? But, she doesn't have ALL the signs. So really, what's the chance of her having this? Wouldn't the geneticist have said it already? Her arms and hands and fingers looks exactly like that of other Marfan's children. I specifically asked the geneticist WHY does Boeboe has such strange looking hands? Her fingers are long, thin and tapered. It does not thicken at the knuckles. Her palms are so small, that it looks like her arms is forming one straight line from her wrist to her pinky. The palm isn't broader than her wrist and fingers, like it's supposed to be. She also has a way of using her hands, that looks definitely "spidery" like they're describing Marfan children's. Shouldn't the geneticist have thought of this, if it was a possibility?
For now, I'm just going to concentrate on having Monkeyman's diagnoses. After 7 years. Two years of actively searching. To understand WHY he was the unlucky child who would develop Pulmonary Hypertension from enlarged adenoids. Now, it makes sense. And now we can be viligent. Now, we can help and support him. Catch anything that might crop up before it causes damage. We can do our best for him, because we have the label we so desperately wanted and needed. Now, we know what he needs, and what's not good for him. Because of that small little label. Hypermobility Syndrome.
