- Fragile X-associated Disorders
- Treatment & Intervention
- Support the NFXF
Like many parents, I had never heard of Fragile X. In 2000 I learned we were having twins. I can remember the moment I learned I was not having just one baby – but two. “Oh Wow!” was all I could come up with and I remember saying it over and over again in joyous disbelief! Twins didn’t run in our families so this was truly a blessed surprise. It wasn’t until years later I learned there is a higher prevalence of twinning with carriers of Fragile X. Who knew?
Over the next few years I began to realize that something was different about our son. The typical “not meeting milestones”, difficulty with sleep and obvious strabismus all had me concerned. We had Early Intervention and were working on all the concerns so when we finally got the Fragile X diagnosis we just continued on, learning more each day about how to give him the best loving and learning environment we could.
It was not until 2006 that our daughter was diagnosed with a full mutation too. Like many girls, her signs were less developmental and more executive functioning and sensory based. When we got her diagnosis I was devastated. I felt the loss of my “typical child”.
When I reflect on this time, I am reminded how blessed we were to have twins. Without my son, my daughter may have gone forever undiagnosed. Without my daughter, my son would not have had the built in playmate, model and friend that has taken him so far.
With confidentiality laws, it is difficult to find other parents of children with Fragile X (this was a pre-Facebook era). So I called our local TV station and worked with the health segment host to do a piece on Fragile X. It was great. At the end of the segment she told viewers of our goal to find other families affected by Fragile X and invited them to contact the station. The next day I had a handful of emails passed along to me from other families going through the same journey we were on.
Our group includes RI and Southern Massachusetts. We have met some awesome people and created many friendships. I know our families found great comfort in meeting other parents and grandparents of children with Fragile X.
It is my mission to reach out to all families in our area impacted by Fragile X. I have worked with physicians and teachers to educate them about how Fragile X impacts children and families, both at home and in the classroom. I look forward to meeting more families, talking about Fragile X and supporting ways to help our children be successful.