Genetics Appointment

We went to visit Rileigh's Great Grandma on Monday and had breakfast with her. We had a nice visit and Rileigh had a good time playing. She even spent a little time talking with her dad while we were there.

Today we had the appointment with the genetics doctor. We did find out that Rileigh has Oculocutaneous Albinism, meaning it effects both her vision and her skin and hair. The doctor was very nice and informative. We received a lot of information today and it is a whole lot to process. We had blood work done on Rileigh today to see if she has Hermansky-Pudlak Syndrome, which is another form of Albinism. With her reflux problems, digestive problems and her "strawberry" patch on her back, the doctor thought we should check for this. Rileigh will also be having an ultrasound of her belly tomorrow, and I have to set up a hearing test and echocardiogram for her. Apparently the lack of pigmentation in the body can lead to hearing problems as well. The echo is being done mostly because of my heart problems and the doctor wants to make sure Rileigh does not have any of the same issues. The last thing we found out today is that Rileigh's soft spot on her head is closing up early. She also has ridges in the front of her head which could mean her skull is closing up faster than it is supposed to, which will lead to her brain not being able to grow. We had a complete bone scan done on her today and we should have results in 4-6 weeks on this and the blood test. If the scans show that her skull is beginning to close, we will then have to go see a cranial doctor for further testing and evaluation. I just pray this isn't the case and there is nothing to worry about. We were at the doctor for about 3 hours and Rileigh did very well. She was pitiful when they had to draw her blood. Unfortunately she has inherited her mother's rolling veins! The xray session went okay. She did well at first, but after about the third one, she was over it. When we got home, I gave her some popsicle and she was a happy little girl!