Pontocerebellar Hypoplasia Type 7

rdd-logoMy beautiful girl was a surprise when she was born as an amnio during the pregnancy had shown XY chromosomes. There was our first surprise – androgen insensitivity. Then, following a seizure, she had an MRI at 7 days old and was shown to have an underdeveloped brain – none of which had shown up on the multiple scans during pregnancy. She is now almost 2 and has never smiled, laughed, talked etc. She cannot hold her own head up. She barely moves at all. She has seemed to be a mystery to the doctors, who aren’t sure whether the AI and the brain development are related or if she was just incredibly unlucky.

An MRI done at 9 months showed that her brain is degenerating. We don’t know how much time she has but we suspect that pneumonia will get her before her brain does. We are undergoing genetic testing and at the moment it is suspected she has PCH type 7. I don’t think there are any other cases in this country. Her genetic testing is being done in Amsterdam as they have at least seen similar cases. All we can do now is show our little girl how much we love her and make her as comfortable as possible.

Leave a Reply