Global Genes held their fifth annual summit this past week and I had the opportunity to attend. It was an incredible experience, so much so that I’m already signed up to attend next year! In addition to meeting all of the wonderful rare gene advocates, researchers, scientists, doctors, etc., I also had the pleasure of meeting fellow PMS Advocates: Diane Linnehan, Mary Cobb, Briana Vartanian and Liz Horn. The summit has inspired me to work harder towards finding help for my son and all of our children.
One of my biggest takeaways from the meeting was that I am proud to be a part of the Phelan McDermid Syndrome Foundation and Family. I learned that there’s a typical course of action that happens when one is diagnosed with a rare disease. If you’re fortunate, others have gone before you and cleared the path. If not, it’s suggested that one start an advocacy group, begin a natural history study, set-up an international registry and identify biomarkers. These are all necessary steps before one can move forward with developing better therapies/cures for your rare disease. You can imagine why I was PhelanLucky – we already have all of these items in motion! A big thank you to all of the parents and advocates that have tirelessly cleared the path in front of us!
Now, it’s time for us all to make sure we’re sharing complete information within the PMSIR. If you have not already registered, and/or if it’s been awhile since you’ve updated your information – please don’t wait any longer. Our families truly depend on your input as do our scientists and researchers. Just think – the data, including your child’s genetic report, that you supply has the potential to hasten the development of new therapeutics and, eventually, cures for PMS and related disorders!
Individually, we are one drop, together we are an ocean.
