Tom has had some in-depth genetic testing but we don't really know much more than we did before his testing. He did not test positive for any diseases, and no mutations or dislocations were found in his genetics. He is my little medical mystery man!
Tom enjoying a new app on his iPad.
Research-based genetic testing done through Dr. Capone's office in Detroit revealed no mutations in the NDP gene and no mutations found in the Fzd4 gene. These are the main genes involved with NDP-Related Retinopathies. Tom has Persistent Fetal Vascular Syndrome, which one of several NDP-Related Retinopathies.
But maybe you are wondering exactly what genetic testing is? Read "A Brief Primer on Gentic Testing " by Francis S. Collins, MD, PhD, to learn more about current genetic tests and when they should be used.
The National Center for Biotechnology Information's NDP-Related Retinopathies page is very informative. It compares the related retinopathies and gives a informative description that isn't too scientific. I think you will be surprised at how much you learn from this one page!
It does mention that PHVP is usually unilateral and that bilateral presentation should suggest Norrie. I have seen several people disagree with this. Even when cases seem unilateral, there are often also changes to the better eye that suggest some degree of bilateral involvement. So I prefer to take that with a grain of salt. Of course, everything in me does not want Tom to have Norries, so I'm biased.
Tom is very into his trucks lately.
I searched on GeneTests for labs that test for NDP-Related Retinopathies, including: Coats disease, NDP-Related Retinopathy of Prematurity, Norrie Disease, Persistent Hyperplastic Primary Vitreous (PHPV, now also called Persistent Fetal Vascular Syndrome), and X-Linked Familial Exudative Vitreoretinopathy (FEVR).
Some of these labs will do sequence analysis of the entire coding region and others offer deletion/duplication analysis.
They began testing Tom's genetics in the days after his birth. He has many conditions but so far there is no overall syndrome or name for his list of conditions. That used to scare me but now it doesn't. Once you enter the world of special needs you find out there are so many children and adults living without a formal diagnosis.
Through the magic of the Internet we have met some children with similar conditions. That has been really cool and quite comforting. But be careful! Researching your child's conditions on the Internet is DANGEROUS. The odds are good that you won't like what you find. Usually you find medical textbooks and scientific articles.
I know medical texts are written for doctors and scientists but I can't help but think of the children who are in those pictures. Those are real people! Real children like my Tommy and it's hard to have him reduced to a list of conditions and have him examined for "dysmorphic features."
But I had a difficult experience with Tom's genetic testing and it has really colored my thoughts on the subject. I'm glad we did it but I wish it had been handled much differently. Live and learn I guess! Fighting these battles for and with Tommy has certainly made me stronger. I am ready for the next round of doctor visits and testing. There is always another appointment around the corner and I like to be prepared. Information is power.
I hope the information above will be helpful to those who have children with Persistent Fetal Vasculature Syndrome (PFVS) or other retinopathies.
I hope this post wasn't a downer! Something got me thinking about genetic testing so I decided to share some info with you. At the very least you can enjoy some new pictures of Tommy and one of my favorite pieces of his art. Yes, blind people do art. :)