The rare genetic condition community is really something special. It's the community that most don't volunteer to be a part of, but once you're there, you can grow to find the beauty and simplicity that doesn't exist elsewhere. I am very eager to attend the Global Genes Summit in Orange County this September to meet even more people, doctors and researchers that are fighting hard to find better therapies/cures for our children that are affected by rare conditions.
Recently, in one of my online parent support groups, I saw a few questions from a mom that echoed questions I had. I was curious as to what condition her child had and discovered it to be Pitt-Hopkins Syndrome. Unsurprisingly, I had never heard about it. I read about it. First at wiki then on the Pitt Hopkins Research Foundation website.
I was surprised by how many similarities there are between PTHS & PMS. Although PTHS is chromosome 18 and TCF4 (gene) and PMS is chromosome 22 and SHANK3, there were still quite a few commonalities.
I was then brought back to my own childhood and vaguely remembered reading the story of Peter Pan - the boy that never grew up - and learned that it's believed that Peter Pan had Pitt-Hopkins! (In addition to there being a wiki page detailing this, it's also talked about on the PTHSRF page.) As written on the PTHSRF page, "Peter Pan is remembered as the boy who never grew up…a boy who captured the hearts of the young and the old through his magical ways. The story of Peter Pan helps us find some blessings in the pain. Peter Pan, we think, would’ve been very proud of our Pitt Hopkins children. Just as we are."
#careaboutrare #globalgenes #pitthopkins #phelanmcdermidsyndrome