We went to the genetics counseling today and I'm just more confused. I know a lot about what she has, but it just doesn't make sense. Her duplication is a tiny 72 Kb and there are people with much, much bigger ones that are WAY more functioning than her. Everything says how the size of the duplication indicates the amount of affect it has on a person. I asked the counselor about it and she agreed that she thinks it could also be Angelman along with the duplication. She said that this is so rare that they really don't know much yet, and many of the kids have other things along with it so it's hard to narrow it down to what causes what. I talked to her Geneticist and she's perfectly happy with the diagnosis as it is. I just think there has to be more to it.
I'm going to call her Doctors at Mayo and see what they think because I just don't think we've found all the answers.
I just don't think her level of delays correspond with such a small duplication. Unless that small of a duplication can cause global delay because that's basically what she has. Maybe her small duplication is why she doesn't have all the health problems that others do have. We do have to get a kidney ultrasound done to check for issues there but that's it.
We'll see what Mayo says. I want to check in with them and also all of the rest of her Doctors. There are lots of them and maybe one of them knows something too. Maybe a trip to Mayo for some more testing. I've been chatting online with another Mom of a little girl with this too. They also go to Mayo so hopefully they can get the girls' charts together and get us some more answers. We'll see.....
It's amazing how such a perfect little Princess can be SO complex :o)
It's really crazy how differently people are affected by chromosomal abnormalities, isn't it? Our son is missing a tiny portion of chromosome 1 and has a tiny duplication on 15, but he has 25 birth defects and is very developmentally delayed. We know of another family whose diagnosis is almost identical, but whose daughter only has 2 birth defects.
ReplyDeleteJust take a look at Trisomy 21. Down's Syndrome children can have developmental delays ranging from severe to profound, and a huge variety of different birth defects. I don't think anyone knows why this occurs.