Natalie is a 3 ½ year old sweet girl who is navigating the world with Pitt Hopkins Syndrome. When she was 5 months it was becoming clear to her parents that she was not reaching typical milestones, and about a year later a diagnosis came, Pitt Hopkins Syndrome. Pitt Hopkins Syndrome (PTHS) is exceptionally rare – with only around 600 cases recorded worldwide, and 5 in her home state of Washington. Natalie has a mutation on her TCF4 gene on the 18th chromosome. Her particular mutation has never been recorded before. Natalie has severe cognitive delay, motor delay, sensory issues, is non-verbal and currently non-mobile. Other characteristics of PTHS include seizures and breathing issues which include hyperventilation and/or breath holding.
Natalie has a smile that will light up a room and a giggle that is infectious. As she is growing bigger it is becoming increasingly awkward and difficult to transport her. Getting a wheelchair van for Natalie would be a game changer for this family when going to her countless doctor appointments and helping to remain active in their community. Thank you
for any help you can provide in this next chapter for Natalie!