Watch My 2019 Awareness Video

March 15th, 2018, was the first time I had ever heard of Phelan-McDermid syndrome because that was the day my son was diagnosed with the rare disease. By the end of the year he was diagnosed, there were 2,100 cases known worldwide. Today there are nearly 2,800 known cases, but there could be more out there.

The only way to know if a person you love has Phelan-McDermid syndrome is through genetic testing. Unfortunately, because of the hardships of hospitals and labs due to the state of the pandemic, many families are waiting increasing long times to consult doctors before they can even get to the step of genetic testing.

Why am I telling you all of this? Because one rare disease can make a difference. There are thousands of other rare diagnoses, and if we open our minds and hearts to learning and educating others, they too might find their answers.

The thing about Phelan-McDermid syndrome is there are no two children alike. Many can walk. Others cannot. Some can write, even read, while many can not. Others will talk and tell you about their day, while some, such as my son, have never uttered a word.

My goal, and the goal of so many families with their own diagnosis dates, is to make October 22nd the date for those who don't know about Phelan-McDermid syndrome yet. October 22nd, International Phelan-McDermid Syndrome Awareness Day, can be the day someone learns about Phelan-McDermid syndrome and the day they share it with others.

Please help us bring national attention to why Phelan-McDermid syndrome families worldwide have helped light bridges, landmarks, homes, and entire neighborhoods in green for awareness of this rare disease. It is as simple as putting a green light on your porch. Also, please help us get the attention of Good Morning America to feature our rare disease and what it means when you see green!

About Phelan-McDermid syndrome:

Phelan-McDermid syndrome is a genetic condition that can cause severe and life-changing health issues. Diagnosed solely by genetic testing, many have other diagnoses as well. Almost all have autism. Most have epilepsy and extreme challenges in GI, urology, cardiology, and psychiatry. It's estimated that at least 1 percent of people with autism have Phelan-McDermid syndrome but are undiagnosed due to a lack of genetic testing.

There is no cure or treatment specifically for Phelan-McDermid Syndrome. However, raising and spreading awareness will increase interest, compassion, and care for rare diseases. Increased awareness and an engaged and active patient population will mean more opportunities for research, treatment, and improved outcomes for those affected by the syndrome. 

For more information about Phelan-McDermid Syndrome, go to www.pmsf.org or contact the Foundation at info@pmsf.org.