We saw the pediatric pulmonologist who specialises in bio-transformation something. I like her. A lot. Firstly, not only did she NOT make any comment, least of all negative, assuming or patronising, about the fact that we took Monkeyman to 3 cardiologists. No, instead, she asked us to take him to a fourth!!! Now, if you've been in my/our shoes, you'd know that going to the 2nd was very difficult for me to do. Going to a 3rd was really against my grain. And for that decision, I've had to take ALOT of flack. From online friends/communities, from family, and the worst comments and looks - from doctors and others in the medical community. I am honestly sooooooo tired of people doubting the way I go about all of this, and the necessaty of it. Why do people find it strange that we would want to know what's wrong with our child after six years? Is it really so strange to believe that we found 6 years LONG ENOUGH to see if it'll get better on its own? Or if it's really such a big deal? Or if it's not just a personality thing? Do you know that my child has a little blue vein, that appeared out of the blue one day, almost a year ago, that goes light blue, almost dissapearing when he feels good? And that when he feels tired, it becomes very obvious and darker and more prominent? And when he's really tired, it's like someone draw on his face (from the corner of his mouth to his chin) with a dark blue marker?
Do you know that when he is active, he turns pale? Pale enough that you can see how much the skin color on his face differs from his neck and chest? Even the doctor noticed it today! Do you know that when he tires, his face changes from a happy, smiling little boy boy with large, open eyes, to a boy with a withdrawn face, eyes half-mast (half-closed, as if it's too difficult to keep them open)? Do you know that his mouth contracts to a little button hole, about half the size, from the effort to keep going? Do you know that his eyes are downcast about 50% of the time when he's tired, unlike when he's not?
Do you know that when he's tired, he sighs with almost every sentence he speaks, unlike when he's NOT tired, when he NEVER sighs (so it's not a put-on thing that's part of the way he speaks). Do you know that he walks erect when he's not tired, but when he is, his shoulders hunches forward?
Well, I do. I know it. Intimitaly. I see it. On a daily basis. I know and recognise the signs without even being conscious of it anymore. I've been recognising the signs ALL OF HIS LIFE. I have had 2 other children, and now again another one after him. None that were like him. I can see the difference. It's there. It's real.
You may not see it. I get that. I understand that. You may look at him, and you will miss the hunched shoulders, the sigh in his voice, the monotone, the dragging of the feet, the half-lid eyes. I understand, To you, he might look like a normal, happy little boy playing. You might not notice him sitting down while playing. Or be present when he tells you that he didn't play with a certain friend that day at school, because the friend was playing too actively and he couldn't keep up. You might miss seeing him crash after a visit, or when he needs to recover from something like anaesthesia or an illness.
I'm his mother. I know him. No one knows him as well as I do, except his dad. We see it. We feel it. We live it. Why doubt us? It's not me deciding, oh, he's tired, let's chase in circles around doctors. We're his parents. He's our responsibility. And we take that very, very seriously. Don't you?
So, if you can accept that we KNOW it. Do you really believe it's okay for us to leave it? Do you really think you would've left it for longer than what we did (6 years)? When you see your child suffer at school, and from being at school, would you leave it? For how long? Until he really can't cope anymore with the workload that comes with the higher grades? When will you decide your child needs your help? Can you accept that we've decided that ours needs our help NOW. Not next year or in another 5 years? But now. And understand that we're doing the best we can. We're NOT running from one doctor to the next like headless chicken, even if it might appear that way. We're making conscious, thought-out decisions, together, as husband and wife, as parents. And 90% of the time, the doctor we go to, was REFERED by another doctor. Like the pediatrician that said something to this effect: "I really, really urge you to go to this pediatric pulmonologist. I want you to go to her. I believe she may be able to help your son."
Would you ignore such a request from your child's pediatrician? So why is it so hard to accept that we need to do this?
Sorry, I went on a looooong tangent there. Back to the appointment. So yes, she wants us to go to a 4th cardiologist. The irony, LOL. Anyway, this one specialises in Pompe disease. And such things. But for now, I don't think we're going to go down that route. I'll keep it in mind, but honestly, to go to a 4th, pay another almost R4000 ($400) to see someone about a specific syndrome...I don't know. I don't believe it's necessary at this moment. I might research it in the meantime. ;-)
Basically, the doctor said some good things today, and some worrying things. Firstly, she does not believe her bio-transformation medication will help Monkeyman at all, and it may even harm him. Because from the picture she got after asking us A LOT of questions (we were there for 3 hours!), she's pretty sure that he has a mitochondrial disease. Exactly as the (2nd) cardiologist believed. She referred us to the exact same specialist and said she'll take her own child to that doctor if he had these symptoms. So, it seems like we can expect one of 3 outcomes in the end. One is that they can pinpoint the problem, and treat it by medication, diet, etc. Second is that they cannot pinpoint the problem, because there's a long list of mitochondrial problems that doctors just haven't mapped and being able to get to the cause just yet. Maybe then they'll find it 5 years down the line, or even 10 years down the line. If we're lucky.
Lastly, and most scary of all, is that they could find the problem, and it's not treatable. Like ALS (what Joost van der Westhuizen is suffering from). She says the little cells in the body dies because it doesn't get the energy from the mitochondria that it should get. So basically, that's what he has. Now she's not saying that Monkeyman has ALS or something similar. Not at all. Just that that could be the devastating effect of a mitochondrial disease. And Monkeyman already shows signs of deterioration, like the fact that the heart took strain, and the fact that his liver tooks strain (it's a bit enlarged and palpitating it made her worry). She wants to take a biopsy from his muscles, but says that we first need to see the mitochondrial specialist, because it's easy to screw these biopsies up if you don't know exactly what you need. And she doesn't want to put Monkeyman through anaesthesia twice. Especially since the fact that anaesthesia always throws him for a loop, is a mitochondrial sign. Apparently, it's a blazing, neon-lighted sign. :-( Who knew? At least now we understand why anaesthesia is so very, very hard on Monkeyman. Why it took him 2 WEEKS to recover from it the last time, when he only got less than 30 minutes of anaesthesia for the adenoidectomy. Apparently the anaethesia medication is processed through the liver, and his liver is suffering, so it has an adverse effect on the body and its energy generators, the mitochondria.
OK, that was a mouthful. Basically, she confirmed the fact that there indeed is something wrong with our little boy. And it has started to attack/damage his liver. So yes, our intuition WAS NOT WRONG. But I wish it were. :-( I would much rather be wrong, aspergers or not (apparently aspergers people hates being wrong, just like I do, :-p). In this case, I really wish it was nothing. But it isn't. When my husband asked her how far and long do you keep on searching for answers, she said something to the effect of as long as it takes, but that this next specialist really will bring at least some answers and we have to go.
The other bad news, is that she too, says that it's obvious that we're dealing with a whole family with a common underlying condition. And she wants us to take Boeboe along to the mitochondrial specialist, because she believes that Boeboe might be the perfect "test subject". I can say and write that objectively, until I realise - that's my DAUGHTER you're talking about. Then I just want to cry. But I see her point. Boeboe obviously got hit the hardest, with whatever is wrong with us/our children. She manifests the most symptoms and birth defects, so it makes sense that it should be easiest to find the problem in her. Oh man, I don't want any of my children to be test subjects. :-( They're just little kids!! I just want to grab them, hug them and close my eyes and forget about this whole darn issue.
But I can't. She said that chances are very good that Peanut has the same problem (sniff sniff, now I'm really crying). Because of a number of things - the fact that she couldn't achieve good neck control for 4-5 months after birth. The fact that she couldn't bear weight on her legs when she should've. And most of all, the fact that she refused to move in my pregnancy. She was active from 18-25 weeks. Very active. And seemingly overnight, she stopped. She didn't move 10x a day. If she didn't get hickups every day, I might not have felt her at all on some days. The gynae even once told me that I'll have to prepare myself that we might only find out why after the pregnancy. At birth, and that it might even be something like her being paralysed in the legs. Because she did not do any somersaults, kicked out, stretched or turned except the once when she moved into the head-down position. For about 12 weeks she layed with her head tucked underneath my liver, her legs curled up towards my left hip/side, and she didn't move apart from moving her arms and small movements of her body and head. I was sooooo happy at her birth when she kicked out and moved her legs. Aparently, this is another huge, glaring, neon-sign about mitochondrial disease. Again...Who knew?!
So the doctor today said that maybe if we find out what's wrong with Monkeyman and Boeboe, we might be able to help and support Peanut from early on since she's still so young. So we might be able to prevent some damage from being done, who knows. But it's worth our effort and money, to find the answers to the "what's wrong" questions. Even if only to help Peanut.
Now, I'm not yet at the point where I want to believe there IS something wrong with Peanut. NOT AT ALL. I can't face that. Not yet. So for now, I'm ignoring that possibility and concentrating on only Boeboe and Monkeyman. I need to be able to stand upright, and believing that at least three, possibly all my kids have something that could be devastating to their health...it really is just to much to bear. So I'm not going there.
To the easier parts of the appointment. She says that we must definitely do a sleepstudy. Something we've been asking for for a YEAR. We asked his pediatrician, she said he would've snored. We asked the cardiologist, she said it's traumatic to the children. We asked the ENT, he said it's difficult to do in such young children, and besides, the pulmonary hypertension would not have reversed, if he still had obstructive sleep apnea. So we stopped asking. This doctor says she'd rather sit with a "there's nothing wrong" sleep study report in her hands, than a "we don't know". Precisely how we feel!! She says one parent stays with the child all night, so it's not that traumatic, and the medical aid covers it. Also, they look at his oxygen levels all night, and take a partial (not complete) EEG, which might also be good to have with his older brother's history of epilepsy. She already emailed the doctor working with that, and her people has phoned us. Wow. That's quick. So we just need to confirm a date and voila. Impressive.
The second thing she picked up, was that she heard "damage" or something in his right lung. She says that it's a typical sound and pattern of inhaled reflux. Aspiration. Wow. Another lightbulb moment for me. Of course! She confirmed it with the x-rays taken over 6 months by the other cardiologist, as well as his baby one, and said it's clear on them, especially on the right lung. And that's what the cardiologist picked up on on his lungs, but couldn't tell us what was wrong! She says his GERD is much worse than what we believed. She has upped his dossage to another 10mg, given in the morning. So he's on meds twice a day for it now. And if that doesn't work, she's going to prescribe a low-dossage cortisone pump. She explained that his little airways contracts because of the inflammation damage of the aspiration. She administered cortisone after his first lung function test, and then did another one. The cortisone made a 17% difference to the oxygen level or something like that (I didn't understand all the values she showed us). It did, fortunately, seems to show that he doesn't have asthma. Which is a relief knowing for sure, because it did play on my mind once or twice, because the cardiologist thought there's something on his x-rays, and we have a family history of asthma.
So after waiting almost a year, we now know what's up with his lungs. It's a relief to know. So at least that's a "good" thing of this appointment. Actually, I'm really glad we went. This doctor seems like a do-er. she tackles the problems and organises what's needed. So asthma is excluded, his lung problem is diagnosed, she picked up the fact that his liver is suffering, she organised a sleep study and she's going to talk to the mitochondrial specialist herself (turns out they're really good collegues and knows each other well, and even works together in the same clinic in the same state-funded hospital every couple of months). I'm grateful the pead stumbled across this doctor, and urged us to go. It feels like we made huge leaps of progress, in just one visit. Instead of with the cardiologist who saw us for 6 months and just kept on taking bloods, x-rays and doing a heart sonar (which was needed, and I'm grateful, but we needed action).
Just a last thought. Having this Aspergers (probably, but really, I'm not going to put that everytime as a "disclaimer". I have not been definitely diagnosed, but I have a psychiatrist who believes that I'm right, and that's good enough for me, I don't need a formal diagnosis when it fits me like a glove, and when I did the same tests that would be done by the psychiatrist). So, having aspergers is still "new" to me. The dr asked our whole family's history, and while listing to all that's wrong with me (glaucoma, gilbert's, etc.), I admitted to maybe having aspergers. She nodded her head, without even flinching or smiling condescendingly. She acknowledged and accepted it without telling me "but..." (fill that in with - "you can look me in the eye", "you look so normal", "you can speak and socialise normally", blah blah blah). I'm grateful that the first few people I've told about this, has accepted it without making me feel worse than what I already do. The psychiatrist agrees, my sister agrees (with emphasys, hahahaha, she's so sweet). My husband seems to agree, my best friend was supersurprised, but also accepted it within minutes. Wow. I might be more clearly "autistic" than what I thought. My friend, like the psychiatrist, did say that I must be very high functioning. Yep, clearly, I am. Thankfully so.
My brother touched on an interesting point tonight. He wondered whose way is the best (so to speak). My way of trying to find answers and labels for everything that's wrong with me/the kids (can someone say aspergers?? LOL), or my mom's where she just solidly ignored every issue in her children. I'm gonna have to think about this one to be able to reach my conclusion. But I do believe that my children's issues are worse and more life-threatening, than what my mom had to face, which makes all the difference in the world. When you've picked up your 2-month old's lifeless body, face grey, mouth and lips going blue, then you can't ignore their issues anymore. It changed me, those few awful months when Boeboe stopped breathing so many, many times. I don't know how it does not change a parent. As I said before, that's the day I started to take my children's health more seriously than what my mom ever did. Anyway, I'll get back to this point. At this moment though, I'm glad we found out about Monkeyman's lungs, because the dr said it would most definitely have lead to more and permanent damage, and I'm grateful that she picked up his liver isn't doing well, because that could in itself be life threatening. It's not something I would've wanted to take any chance on.
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