ss8 diagnosed with 'autosomal dominant polycystic kidney disease' trait/gene....anyone here know anything about this???
I know this is steptalk, but I figured there are a lot of people on these boards and maybe i'd just post this question to see if anyone here is familiar with this.
SS8, who has autism, just had a neurologist run a battery of DNA/Chromosome labs and an MRI Brain Scan. Blood results came back indicating that ss8 has the trait/gene for 'Autosomal Dominant Polycystic Kidney Disease".....I have been reading a TON of info on it, as we were told our referral to the children's hospital genetics and nephrology depts. would take about 2 weeks.
It appears that you inherit this trait/gene from a parent, and there is usually a long family history of the disease, because it is of course genetic and passed down.
Neither bio mom nor fiancee appear to have any family history of this disease.....i'm just waiting for the fallout on that one when the genetics dept. wants to test mom and dad and figures out that ONE of em aint his bio parent...and we KNOW which one that's gonna be....
anyway, anyone familiar with this disease, i'd love to hear from you your experiences, etc.
the kidney disease ss8 has,
the kidney disease ss8 has, in a very small percentage of cases (5 to 10%) can come from random gene mutation too, so i've read. But, it's rare. And, I think in order for the medical community to consider it a true random mutation, they have to CONFIRM that both 'natural parents' do not have the disease. Thus the fallout i'm presuming might happen in fiancee's family. Either way, ss8 HAS the gene, which means he WILL develop the disease at some point. normally this disease's symptoms don't appear until adulthood, but can happen in childhood as well.
No, ss8 has never shown any
No, ss8 has never shown any symptoms of having anything wrong. I guess it's just going to be something, like you said, that will have to continue to be monitored throughout his life. Problem is, he's already overweight, and with his autism and poor p/t and o/t skills, getting any exercise out of him is very difficult. We are already working on trying to monitor his diet. I'm hoping that the only reason we know that he's got it is because it showed up on a genetic test and we'll probably both be dead and buried before he ever has to deal with its symptoms!
In this case, it's not really the disease that worries me, it's the potential of fiancee finding out he's not this child's bio daddy that worries me!!!
bio mom is an iv drug user,
bio mom is an iv drug user, among other things...fiancee was dating her for a VERY short time when all of a sudden the 'i'm pregnant' was revealed. He's a good guy, WANTED the child, so even though family urged him to have a paternity test, he refused..the child was his and that was that. the child looks nothing like fiancee either, looks exactly like the mother. My 'gut' tells me he's not the bio daddy..... now that this gene has reared it's ugly head, I assume it's only a matter of time before paternity needs to be established.....stay tuned...and thanks so much for the info