My wife and I just received a diagnosis for our youngest daughter. She was born 11 years ago with multiple developmental delays. The doctors had never been able to determine why, so we have lived with a big question for a long time. We had another test done back in July and recvd results a week ago.
Sat down with geneticist today to find out that she has Pitts Hopkins Syndrome. It is a relatively new diagnosed syndrome that has been discovered in children and young adults. Since it is so new there are no in depth studies as to what the future holds. A part of me is glad we have an answer but another part of me is saddened that we know now that since it is a mutation of a gene there is no cure.
I always held out hope that through therapy and hard work that maybe we would see some improvement as she gets older but this is not to be. While her quality life is good and she is happy and enjoys school and her family, she will never be a " typical kid".
Going to take a break for a bit to clear my head and work on the next step for my daughter and the family.
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