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Jacob’s Story shared by his Mom

This is my story.

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

COVID-19 Resources and Information

We are here for you!

In an effort to keep you informed we have compiled a listing of COVID-19 Resource links. We will continue to update these, please email andrea@ptenfoundation.org if you have a resource you would like added.

 

We Love this resource shared by our friends at the PMS Foundation:

Explaining coronavirus to children and adults, offered in multiple languages.

 

 

Click Here to Access

 

CLICK HERE TO ACCESS RESOURCE LIST

4/7/2020 Webinar Link Here:

PRE-REGISTER HERE

After registering, you will receive a confirmation email containing information about joining the meeting.

To access the 4/7/2020 PTEN/COVID19 Webinar follow the link below. Note: The information included in the webinar is offered as general advice and is not to be construed as individual medical advice. Always consult your physician with individual medical concerns.

Thank you, Dr. Eng and Dr. Uhlig for sharing your time to offer guidance to our community.

 

ACCESS THE 4/7/2020 WEBINAR RECORDING BY CLICKING HERE

 

PHTS/COVID-19 General Guidance Document

PTEN Hamartoma Tumor Syndrome Covid

 

APPLY FOR OUR COVID19 PTEN FAMILY NEED SCHOLARSHIP. (click below)

PTEN/COVID19 SCHOLARSHIP (based on need)

 

PAST WEBINAR

ACCESS THE 3/26/20 WEBINAR BY CLICKING HERE:

The webinar was cut a little short, our apologies.

The information provided in the 3/26 webinar is general guidance and not to be construed as individual medical advice, always consult your physician with medical questions.

 

 

You can give back while shopping from home.

Shop by clicking the link below:

Amazon Smile for PTEN Foundation

 

 

Copy Number Variation and Clinical Outcomes in Patients With Germline PTEN Mutations

PTEN Research

 

 

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PTEN Top Golf Event

Thank you to everyone who participated in our Top Golf Event!

The event was a huge success raising a gross amount totaling $21,000!

 

 

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