Feeling pretty chuffed right now. As most of you know, I strongly believe that biomedical/nutritional intervention can help kids with Kabuki. I believe it is part of why Sophie is doing so well. Recently I wrote to Dr Hans Bjornnson, who is the head researcher into Kabuki at John Hopkins (John Hopkins is basically one of the biggest big guns in the world when it comes to medical research and treatment...the equivalent of Great Ormond St, or in university terms, Harvard and Oxford). He is currently leading pioneering research into whether biomedical intervention can prevent or ameliorate intellectual disability in Kabuki syndrome. I wrote to him with my thoughts on which supplements could be most effective for children with Kabuki, based on a whole heap of research Ive done independently over the years. I received a long answer from him today with an apology for taking so long to reply (only a few weeks), saying that he wanted to take the time to answer you properly because I strongly agree with your thoughts. Who says you need a medical degree to find answers! He also wants Sophie to come to John Hopkins to be evaluated. We dont have a spare $10,000 to travel to the states for that, but still absolutely stoked that we seem to be on the right track :) With Dr David Coman - Paediatrician, Metabolic Physician, Clinical Geneticist
Posted on: Fri, 06 Jun 2014 11:55:33 +0000
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