Above: Taylor jet-setting to her first Phelan-McDermid Syndrome Conference.
When my daughter Taylor was diagnosed with Phelan-McDermid Syndrome she was not quite 2 years old. In fact, at the time her syndrome didn’t even have a name. They told me she had a chromosome deletion called 22q13.3 deletion. They also handed me a packet of very general information about chromosome anomalies and gave me a website. After giving us ALL they had, they said do you have any questions. My husband and I smiled and said nope, we are good. We were dying inside, yet knew they had nothing more to offer us. It took a few weeks to digest, okay maybe a few months. I started researching and I went straight to the website the doctor gave me. It turned out that Taylor was one in about 450 kids in the WORLD with this type of chromosome abnormality. It is generally a random mutation in most children who have this, also true in Taylor’s case. My husband and myself were not carriers of this mutation. We were virtually alone. No doctors in our area had a clue what this was. Everything on the internet was not specific (not to mention scary) to Taylor so it was hard to gather facts that way. We were devastated. We had no idea what to expect or what was coming next. Words like non-verbal, seizures, heart problems, kidney problems, gross-motor delay, and yes-even mental retardation we flashing in our brains constantly. Alone. Scared. Helpless. Grief. Then, one night I was surfing around the website that the doctors had given us, www.pmsf.org. I found that there was support groups spread across the United States. I found that this very small group of people had found each other and come together to help one another. I joined a yahoo group that exchanged messages and posts about medical findings, questions, frustrations, and even triumphs. It saved me. Literally saved me. We found out that there was a bi-annual conference held in South Carolina where all of these people came together and met each other. We had to go. Soon people in our community were coming out of the woodwork to make sure we could attend this conference. The feeling of being alone was starting to fade, a bit. We began to receive support from everywhere. People we didn’t even know got involved. Our grief started fade, a bit. Finally, the day had come and we headed to South Carolina! It was the best week of our lives. We learned so much and met so many awesome people. We felt like we belonged somewhere. We felt like we fit in. We felt understood. People got us. AMEN. Now I am part of an amazing group on Facebook that is my saving grace. Without my Facebook group I do not know where I would be. I learn so much from the parents on that group. I have become great friends with people on that group, people I have never met. We help each other learn knew things about our kids. When I am confused, scared, need answers, or even to share our small victories- I turn to the group. Now the grief only hits once I awhile when you least expect it. Even though Taylor is still part of a very small group, now 1 in 1300, I know we are not alone.
Support can do so many things for you and your family. I don’t know where we would be without the support that our family has received from family, friends, the community, strangers, and my coveted Facebook group. Support has changed our family’s lives forever.
All of my experiences with support are why I joined Special Kids Special Love. I am there to give and receive support in any way that I can. There is so much power that comes from support. Without the support of so many I am frightened to think where we would be today.
Whatever is going on in your life, I strongly encourage you to find support! There is power and knowledge in numbers so surround yourself with like-minded people and gather everything you can from them. Talk with them, learn from them, cry with them, laugh with them, move mountains with them.