Family Friday

Just an update on the middle two kids, for today.

The geneticist sent through her report. It basically stated that she believes the best way to figure out where Boeboe's genes/chromosomes went wrong, would be a whole genome sequencing. Though, if we want, the micro-array is still an option, and she'll gladly organise it for us. The whole genome sequencing basically looks at all of the person's genes (isn't that amazing? We have 40 000 genes!). While the micro-array will only diagnose deletions or duplications. Thus, for example, if a person had a small deletion in the middle of one of her 46 chromosomes, called a microdeletion. It won't detect genes that's not deleted or duplicated, but mutated.

Unfortunately, neither test is available in South Africa just yet, and both are very expensive to do, especially since it needs to be sent to England. Our medical aid (insurance) probably won't cover it, or much of it. So for now, we decided to see what technology they'll bring into the country the next 6 months, and then make a decision again. It'll give us time to save for it, as well as time to concentrate on Monkeyman for now. It's not as if the answers will give us that much more support or help at this stage. Boeboe is what she is. She has what she has. Her genes went awry, either a bunch of them together on one chromosome, or different ones on different chromosomes. Maybe a deletion, maby a duplication, maybe just mutated genes. What does it matter? We need to accept that she's not a typical child, or "normal" child (why do people hate that description?). We need to realise she has some disabilities, caused by mutated genes, and there's nothing we can do about it. The damage was probably done long before we even knew of her excistence. And since we're done having children, we won't need to know at this point if it's genetic. For Boeboe's sake, we'll make sure she has answers before she has children one day, but for now, there's no hurry.

Personally, after having a good, long, hard think about my own family on my mother's side, I'm starting to believe we have a genetic defect that has been passed on. My mom was one of 7 kids. Those 7 kids had 19 grandchildren. Of those 19, at least 7 had learning problems or intellectual disabilities, birth defects or psychiatric problems. This is just from my memory from when we were children. I do not have contact with those 19 (except my 3 siblings), and would not know how many of them has been diagnosed with anything in the meantime since I last saw them. I also don't know and have never met any of their children. So I do believe that whatever we're dealing with, is most likely a genetic thing, and it's been passed on from at least my grandmother's time. I might be wrong though. Who knows. It just sounds a little fishy, and makes one wonder.

About Monkeyman. I'm awaiting the peadiatrician's return call to say if and what we should do next. I so wish we could just leave it be. I just wanted to STOP with all of these tests and issues and diagnoses and medications and worries and procedures and bloods and and and.

Me and hubby had a long discusion to decide if we can't just leave it all be for now. We're so tired of hurting for our children. To put them through tests and pain and worry. And the finances! Let's not even go there. So we were really close to just call it all off, but then we would see and hear Monkeyman being so tired, and it would bother us. How far do you push for answers? I don't know, but we feel like we haven't reached the end just yet. We haven't done all we could for our little boy. There's still much that they can and probably should test for. Can we really let him be and expect him to just cope? What if grade 1 and homework and sport after school next year is all too much for him?

Today, we had tennis after school. For some reason, the teacher didn't pitch (another story, but let's not digress). We waited for about 3/4's of an hour, while the kids all played on the playground (the tenniscourts are next to the grade R area at school). They didn't mind much, of course, who minds playing on a sunny, warm, wintersday with loads of other kids? After that, I popped into Spar with ALL four of them, probably for about an hour. So we got home a little before 15:00. School starts at 7:30am and on Fridays they come out at 13:00. So the day was 71/2hrs long. For the rest of the afternoon, Monkeyman either just laid on the couch, or cried because of something. When he's tired, he cries about EVERYTHING. It drives me dilly! Anyway, if he can't even handle a short day like today with 2hrs of afterschool activity, how will he handle more difficult days next year, that would also include homework? Without constant tears?

I know that all children gets tired, and 5-6 hours of school plus afterschool activities is a really long day for a 6-year old. I get that. But remember, I've had 2 children go through grade R (kindergarten) before. Boeboe was much worse than Mr N, though both of them easily tired from being at school all day long. Still, it just isn't the same as what Monkeyman has. I wish I could describe it, other than saying he's tired. It's like he's so physically fatigued and drained of energy, that holding up his head is too much to bear. He doesn't show this to alot of people, so even family and friends sometimes struggle to realise and see the extend. Because he can and does push himself when family visits or when we go out. Though, some family has noticed how pale and withdrawn he gets. Maybe I'll take some video footage, that sounds like a nice challenge for me. I haven't put video on this blog before. :-)

(Some hours later, after I've wrote all of the above and saved, but not yet posting).
Just got a message from the Pead. I missed her call around 8pm tonight (Seriously?? The poor woman!!). So she left a message that I just noticed. She says that she phoned 2 other doctors to discuss Monkeyman's case with them, and they decided that he needs to go see one of them, she's sending me the number to make an appointment. She said that it sounds like something is going on on cellular level, and that that sounds like where Monkeyman "fits in" or "falls in". Can't remember her exact wording. Anyway, I guess that's a bit worryingly, but at least things are moving forward again. I appreciate the pead's help on this. It can't be easy dealing with these medical mysteries that's our family. :-(

At least it's weekend now, and we have breakfast with good friends to look forward to.