We are a group of families whose children share a genetic mutation on the DHX30 gene. Only discovered in 2016, this condition is so new and so rare that it’s current name goes by “DHX30”, with only a handful of individuals around the globe having been diagnosed. Characterised largely by severe motor skills impairment, neurological issues, and absent language; this condition has commonly been misdiagnosed as Angleman’s, Cerebral Palsy, and severe Autism to name a few.
Unfortunately, the rarity of this condition means doctors currently have few answers as to what the future holds for our children. From our experience, when we go to doctors, we sit and wait as they google the disorder themselves, and proceed to read back to us the few articles we have all read and studied many times over in our search for answers.
Through the power of the internet, many of us have been able to connect, bond, and share in the victories for our children. We are planning our Second conference and David Lessel, M.D. of Institute of Human Genetics, from Hamburg, Germany is willing to travel to meet us and give us his insight! We are fundraising for the families whose medical bills make a trip like this unattainable. We would love to have all the children be able to meet the others who are just like them, and hopefully begin to bring awareness (and therefore research) to this very special condition