What is Phelan-McDermid Syndrome (PMS)? What is most important for people to know about PMS?
Phelan-McDermid Syndrome (PMS) is caused by the deletion or mutation of genes, including SHANK3, on Chromosome 22. It results in moderate to severe intellectual disability, physical delays, lack of functional language, low muscle tone, poor motor skills, problems with eating and sleeping, overheating, flaky fingernails and toenails, and in some cases seizures. Many of those diagnosed with PMS fall on the autism spectrum of disorders. There is a wide range of disabilities among those diagnosed with PMS. Still, most patients with PMS are happy, friendly and interact with parents, siblings and caregivers.
How long has the PMSF been in existence? What is the mission of PMSF?
The Foundation was founded in 2002 after our third international support group conference. At that time we had roughly 50 member families. Today we have more than 1,300 families in our membership database. It is the mission of the Phelan-McDermid Syndrome Foundation to improve the quality of life of people affected by PMS worldwide by providing family support, accelerating research and raising awareness.
What services and programs does the PMSF offer? Has the need for services and programs grown since the founding of PMSF?
Our signature program is our biennial International Conference. Last year more than 800 people attended our three-day event in Orlando, Florida. Our next meeting is July 2016, also in Orlando. We also support smaller, regional gatherings for families both in the United States and internationally. Our Global Partners program aims to unite families worldwide with the common goal of improving the lives of those with PMS and working toward a cure. Our family support includes a monthly newsletter, online communities and web-based resources. Research programs include an international registry, the recent launch of PMS-focused research clinics and funding to advance studies that we expect will lead to treatments and a cure. A new initiative for the PMS Foundation is a push to lobby lawmakers in Washington, D.C. on behalf of our families in order to raise awareness and procure research funding.
Explain the importance of the Phelan-McDermid Syndrome International Registry.
The web-based Registry is an important step in accelerating translational efforts related to PMS. It allows parents and participants to enter patient-reported data about PMS that reflects the effects of the condition on those diagnosed with PMS, which is important for characterizing and understanding the syndrome. Not only will the Registry provide valuable information for families and doctors to make the best possible care decisions, it will also be important to help researchers decide what are the most important research questions to address and who might be a good match for research studies.
What are some of the services that you feel are most needed among PMS families and patients?
Families affected by PMS are looking for help in caring for someone with a rare disease. With roughly 1,300 cases worldwide, our patients are in a somewhat unique situation. Having access to resources to inform teachers, therapists, doctors and medical personnel about the syndrome is critical. To that end, we are developing clinical care guidelines that we will soon make available to families. Our community is passionate about helping others. Families participate in vibrant online communities, offer emotional support, provide advice on many topics and make quick friends with others around the world who have been recently diagnosed.
What do you think are the most important things for the newly diagnosed PMS families to know?
The most important thing is that they are not alone. There are other parents in the PMS and rare disease communities who will support them with advice and encouragement. For those diagnosed with PMS, the Foundation offers life resources, an engaged community, family contacts and the shared hope that we’ll find effective treatments and eventually a cure.
Do you refer patients to clinical trials?
The Phelan-McDermid Syndrome Foundation works with the research community to educate families about opportunities to participate in clinical trials and research studies. In some cases, where researchers want to enroll specific subsets of those diagnosed with PMS, we’ve used our Registry to invite eligible patients to participate.
Have you seen advancements in research for PMS?
There have been tremendous advancements in PMS research. While there are many questions that still need to be answered, insights about the SHANK3 gene have led to the identification of targets for drug development, including one of which is now in clinical trial.
How can patients and caregivers become involved with PMSF?
The easiest way to get involved is by registering as members of the Foundation. By doing so, patients, families and caregivers join a growing community, impact issues that are important to families, and foster research and scientific awareness. We also urge participation in our International Registry to help accelerate research. We need advocates at schools, in the medical community or among influential stakeholders to raise awareness, which benefits everyone in the rare disease community. The work of our dedicated volunteers is critical to the survival of our Foundation. We are so incredibly grateful for the volunteers we have and are always looking for more. Donating time or resources and working together gets us closer to our vision of conquering PMS.