Sequencing Your Child's DNA

Last week I came across a website and I was amazed that I hadn’t come across it before. I try hard to be on top of stories and information that could help children with undiagnosed conditions and this website had been out for over a year and half, how could I have missed it. The website was created by Dr. Hugh Rienhoff, whose daughter has an “unknown genetic syndrome”. There are so many different terms used for this common situation of not having a diagnosis for the signs and symptoms that are presented to us and the medical field. This might explain why I hadn’t come across it before, because of the different terminology.

Dr. Hugh Rienhoff, is a clinical geneticist who is sequencing his daughters DNA. His daughter, Beatrice is 5 years old now and his search hasn’t lead to a diagnosis or treatment yet, though he is still hopeful. Wouldn’t it be something to be able to sequence your own child’s DNA. He has many resources at the tips of his fingers, many of us aren’t so lucky in that sense. His story has been published in different magazines one of which was Nature and another will be in WIRED in February. These can be seen on the website http://www.mydaughtersdna.org/.

The intensions of the website are similar to what I had intended to happen with "Our Children" page of the SWAN USA website, and that is to have a place to post undiagnosed children’s cases, hoping that links and connections would be made. Those connections being doctors seeing a child’s situation that they may be able to make some helpful suggests that the families could take to their doctors or parents seeing similarities to their own child who may have a rare diagnosis. Over the 8 years that I have had children’s picture on our site with their signs and symptoms, it hasn’t proven to be greatly beneficial. It has however generated some e-mails of suggestions, though not as much as I had hoped for. Over the past couple of years I have come to the realization that posting information isn’t enough, it needs to be on a much bigger scale. We need some type centralized data collection that can be utilized by many and user friendly, allowing it much easier to make connections.

This thought brought me to contact and ultimately call Dr. Rienhoff about his website and my thoughts of wanting to see something bigger for connecting undiagnosed cases. I thought if anyone would have some suggestion on how this type of thing may be done, it might be him. After our conversation, I realized that though we both would like to help improve the diagnostic process for children we have a different light flashing in our heads. Dr. Rienhoff has a great focus on a project, triad transcriptome experiment, which is the mother, father and off spring’s DNA. I’m hopeful that at some point he may be interested in helping us further the mission of SWAN USA, by working together to make changes.

You may want to register at his site, I have, it is a little hard to figure out but may be worth it. I haven’t posted our personal situation about Lorna, but I’m thinking his site might generate more professionals because of the publications. Hugh was very kind in posting SWAN USA’s website, so we may see more visitors as well.