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.