You must have so many questions and ideas racing through your head. You’ve recently been told that your family member (most likely your child) has been diagnosed with Phelan-McDermid Syndrome. Depending on where you received your diagnosis, you may already have some information about this rare genetic condition, or your doctor may have been a bit mystified.
Each of you reading this will have a unique story about the day you received the diagnosis and the steps you took from that moment forward in a new world you did not expect to visit. You may not have seen any visible signs of a difference, in your child, in fact, you may be pregnant. You may have a child whose developmental path in early childhood, causing you to reach out to a physician. You may have had another diagnosis for your child, one that didn’t quite “fit”, and now genetic testing has given you a very specific name for your child’s condition. You may have been wondering about your child for some time, or noticed a change in your adolescent that led to the definitive test for PMS.
Whether you are beginning your journey, or putting together pieces of a puzzle, you will find the support and information you seek through the foundation. Navigating the world of rare disease can seem daunting. We can help by introducing you to other families in your area, give you an opportunity to be involved with our wonderful medical and scientific advisors, and help you gain skills in advocating for your family member.
There is a great diversity of ability in our community. Our members are each unique, and the gifts and challenges you will face will unfold over time. We will keep you informed of the latest research, and provide useful information for day to day living through webinars, conferences, and articles. We will celebrate your milestones and comfort you when you are struggling.