Medical Monday

Well, we saw the geneticist again today, so I thought maybe a summary of that will suffice for Medical Monday today. She had such an interesting and easy to understand explanation of what might be wrong with Boeboe, that I wanted to share it.

She draw the normal dna string. You know, the one that looks like a rope ladder that twists and turns as it hang down. She said that on every gene, there's numerous basepairs that connects. One on the left to one on the right (the "sports" of the ladder). There's a very specific order. I can't remember precisely now, but it was for example A matches with C, then T matches with E, etc. It repeats, A matches with C, and so forth. A number of these basepairs, makes up a gene. Then a number of genes, sometimes even a thousand or more, makes up one chromosome. In total, we have 20 000 genes from every set of 23 chromosomes (everyone has 2 sets, one from the father and one from the mother). So we have 40 000 genes, and anything could've gone wrong on any one of them.

She then explained you can take those basepairs, and make up a sentence with 3-letter words, for example: The cat ate the rat.

Now, there's usually three things that can go wrong. Firstly, you can end up with an extra copy of a particular gene. Instead of the normal 2 you should have (1 from mom, 1 from dad), you can have 3:

The cat cat ate the rat.

So somewhere, one or more genes were duplicated. This sentence obviously doesn't make sense, and all cells would have this nonsensical gene arrangement. With obvious problems resulting in the body.

Secondly, you can lose one or more of the genes, and have only one copy left, instead of 2:

The ate the rat.

Again, this doesn't make sense and the cells would struggle to do what they need to do, with instructions missing.

Lastly, you can have a mutated gene. So you still would have your 2 copies from your parents, but one of them had mutated/changed into something nonsensical.

The atc ate the rat.

Again, the cells wouldn't know what to do with this nonsensical information.

The geneticist admitted that they really just do not know much yet. Especially in SA. For some reason, sounds like due to budget cutting, we fell behind the first world countries in genetics. She says we're about 20 years behind.

So, she doesn't really know what's wrong with Boeboe. She believes there's different genes involved, and in her opinion, it might be mutated genes. Not necessarily deleted genes, or too many copies. Rather mutated. It doesn't fit the complete Boeboe bill, so she's not 100% sure. For example, it would be a number of different genes that must've mutated. Different genes on different chromosomes. This could happen during the baby's formation, or even after birth. Environmental influences might also cause genes to trigger consequences (like mental health disease). The reason why I say that it doesn't fit Boeboe completely, is the fact that it's so many different genes that must've been triggered. One gene could cause alot of things going wrong in the body, like if it was supposed to help in brain development, it could lead to seizures, global developmental delay, speech delay, vision problems, hearing problems, intellectual dissabilities, behavioural problems, etc. Because those things are all connected to the brain, and a disruption could cause problems in any of those areas.

But, the spine isn't. So for the spine AND speech to be involved, there should be at least 2 genes that went wrong. And for Boeboe to have had problems right from early pregnancy, means that it probably wasn't environmental. So multiple genes had to go wrong with conception. That points more to something going wrong with one specific chromosome or process involving them, than with a number of different genes on different chromosomes. When something goes wrong with one chromosome, like a small microduplication or -deletion, a small or a larger number of genes may be disrupted. Anything for example, from 5 sequential genes, to 40, or 100, or more. Usually, the more the number of disrupted genes, the more profound the effect is on the child.

But the geneticist wonders if the fact that Boeboe isn't severely, or even moderately affected, doesn't point to rather a handful of different, random genes that mutated. She has loads of different issues, but none is severe. She has learning problems in school, but she has average intelligence. She does not have intellectual dissability. She has psychiatric and behavioural problems, but so far, it can be treated with medication, and there's no structural abnormalities with the brain. She has a few birth defects, but again, it's mild. An occult tethered cord, the narrowed urether, the misshaped kidney, the eyes that can't tear, etc. Some children are born with hearts that could barely function, open stomachs, backs, missing limbs, severe brain abnormalities, etc. So much more severe than Boeboe.

My feelings on the other hand, and the geneticist doesn't discount it at all, is that what's the chance that several different genes on different chromosomes, went wrong at different times for different reasons. My logic tells me that it most likely occured at the same time, the same place, the same chromosome. Such as a small microdeletion or -duplication. Which could affect all those things that went wrong in Boeboe. Like I discussed previously (here), there's one microduplication, that fits her like a T.

Anyway, we had a realy nice discussion with the geneticist, and decided that for now, we're just going to wait for the professor's research to shed some light (hopefully), before doing anymore investigations or tests. Boeboe is stable now, sort of, so we'd rather spend our energy and finances on Monkeyman and give it another 6 months before taking Boeboe's issues futher. In the meantime, the geneticist will contact the professor for an update. Whether she has 5 or 10 different genes on different chromosomes that went awry, or 10 genes that got deleted or duplicated, is really irrelavant, at this point. I'm hoping for answers one day, for multiple reasons. But for now, it's not important. Something went wrong with Boeboe's genes, and we just need to do our best to help her reach her full potential. In a way, I feel like we already got our diagnosis. Our answers. Her genes went wrong. She has a chromosomal defect.