Welcome to the Potocki-Lupski Syndrome Outreach Foundation, a non-profit 501(c)(3) organization dedicated to furthering research while supporting and educating the medical community and families who have loved ones diagnosed with PTLS. With the support of the genetic physicians and the shared experiences of parents who have children with PTLS you will find the most updated medical information, guidance on treatment, and overall support.

PTLS is a rare chromosome Duplication of 17p11.2 that is predicted to reach 1 in 20,000 children. When the first child in the United States was diagnosed with Potocki-Lupski Syndrome, in 1991, and studied in 1996, very little was known about duplication 17p11.2, many questions and very few answers.  As more children are being diagnosed, we see there are many similarities, with some variations. This duplication has a spectrum of symptoms and characteristics, found in both boys and girls. Some of the children have a small area duplicated, others with a larger band of duplication. Some children have other chromosomal differences as well. These variations will present themselves in various health and developmental issues.

One thing we do know, is that these beautiful children are happy, full of life, and filled with talents that may seem hidden, but given time and maturity, they will show themselves. Patience and time to mature brings about many wonderful developments. Celebrate your child for who they are, and know life will be ever changing for them. Through the tears of some of the challenges, these children will blossom and great joy will shine through.

Add a Comment

You must be logged in to post a comment