World PTLS Day 3/8/2014 - Great Turnout!!




Around the world, and many more events still to come!!

Mississippi- Raffle tickets being sold by a PTLS mom at the local school district- approved by the Superintendent.

Los Angeles- Fun Run - Tickets sold for 10.00 (includes T-shirts). Donations will be matched by the Director of the soccer field that is being used.

Colorado- Carnival

Massachusetts- Yogurt shop donating proceeds from sales Fri. March 7

PTLS Outreach Foundation Debuts!

The Potocki-Lupski Outreach Foundation is officially here!!

It all began in 1991, when the first child in the United States was diagnosed with Duplication 17p11.2. Very little was known at the time, so many questions, so very few answers. In 1996 the duplication was first described as a case study. It was a week long study protocol held at Baylor College of Medicine, Houston, Texas. Then in 2000, the first study of the disorder was released in the Journal of Human Genetics.

Meet the Face of PTLS...

This is our opportunity to introduce you to the people that have been diagnosed with Potocki-Lupski Syndrome (PTLS), their lives, their challenges, and their accomplishments. Read their inspiring stories and submit your own to us. We would love to hear from you!

Meet the kids!

Maddie's Story

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What topics are you interested in exploring?

As we face the challenges but ever present accomplishments that our PTLS members experience, there are undoubtedly questions and topics that we naturally want to explore and share. There is still much more to learn about individual challenges, common experiences, and new approaches to help address issues, overall symptoms and traits of this genetic anomaly.

Delaware Dave's Walk

On April 9, 2013, a family member of one of our PTLS children decided to make yet another journey and hike a 2,650 mile hike on the Pacific Crest Trail, in honor of Potocki-Lupski Syndrome. As an uncle to a child diagnosed with PTLS and a wonderful supporter of the Foundation, Delaware Dave has shared his fantastic triumphs and beautiful photos from his journey. When asked as to why he walks, Delaware Dave responded with “it’s hard to put down in words something that is so monumental and all that this means to me.