Yesterday I spent the day researching Aniridia, it is a rare genetic disorder, 1 in 60,000 people have it in America. Of course Amanda was not born here, and it seems it is slightly more common in Estonia.
Though Amanda seems to have a few more issues besides Down syndrome, we just look at her sweet little face and feel overwhelming love for her. Her having Down syndrome, plagiocephaly, partial aniridia, strabismus, extreme hyperopia, PSLVC, and autism spectrum; well, they are all part of who she is. I guess what bothers us sometimes is that others do not find her as endearing or as special as we do, more often they feel pity for her, and protective, which is good, because it makes them more willing to help us help her. We have been told several times that her behavior and appearance are "off-putting". People are being honest, it is true, but if they spent all day with her they would see all of the things that make her our special and beautiful daughter.
This Aniridia website describes some of the issues people with Aniridia face, I can find many issues Amanda has , but they can also be associated with Down syndrome. I am fact finding, and she will see her pediatrician tomorrow. Hopefully he can refer her to a neurologist for an MRI, and we can get the US of her abdomen done to check for Wilm's tumor. We will see what he says tomorrow. Meghan has a swim lesson tomorrow and Kara has pre-school, tomorrow will be another busy day for us. I think the hardest part for me is feeding all the girls on their schedule when we are running around, and nap time is completely disrupted, and that makes for some very grumpy girls, especially Kara.
Tuesday night Kara was inconsolable, we woke her up from a late nap and her pupils were still dilated from her eye exam, she was really upset about it and refused to eat dinner. We had to turn down all the lights to help her calm down. Meghan also has a really hard time recovering from the dilation, it takes her twice as long, no doubt related to low tone and likely combined with slow metabolism? Amanda's eyes did not really change when they put the drops him, her pupils are always pretty large, in fact, it did not seem to bother her at all.
1 day ago