Jacob’s Story shared by his Mom

This is our PTEN journey so far…Today is PTEN hamartoma tumor syndrome awareness day. This being because it is located on chromosome 10q23.3. It is a rare medical disorder affecting 1 in 200,000 people. It is a known cause of autism, macrocephaly, and several types of cancers(ex..thyroid, melanoma, kidney, colon, breast(yes boys can get breast cancer), prostate, etc just some of the concerns). Since Jacob’s diagnosis of autism at  33 months, I’ve learned never to judge a book by its cover; Jacob proves that daily. You didn’t know us personally, you would have a hard time believing most of his diagnoses because he tries his best not to let you know what he goes through daily. We never know where he is taking us on his journeys, but we believe we have the best tour guide out there. He has macrocephaly (diagnosed at 1-month-old) he has autism (diagnosed at 33 months old), he has this PTEN gene (diagnosed at 7.5 yrs old). He has to go thru prescreening yearly for this disorder as the cancers can be quite tricky. He goes to occupational and speech therapy twice a week(currently virtually). He has countless specialists on top of a fantastic pediatrician. He has autism, macrocephaly, café-au-lait spots, GI issues, and low immune system all because of this gene. So with this being said, let’s spread awareness and help patients like Jacob.#PTEN #PTENawarenessday @ptenfoundation -Kelly