Finding Hope After Our Diagnosis

By Janet Rivera

Our only child, Kenny, was diagnosed with Fragile X syndrome (FXS) at the age of four. When this happened our family was not only at a loss for words, but at a loss for what we could do for our son and for his future.

Kenny with mom (and this post’s author) Janet and dad Anthony.

Having our first child meant the world to my husband, Anthony, and me. We were ready to do as much as we could for our child, but, when we noticed Kenny was not meeting his milestones we didn’t know what to do. That’s when my mother-in-law, Esther Torres, suggested we double-check with our pediatrician to make sure Kenny was properly developing for his age. It was July 2005 when the shocking test results came back—Kenny had tested positive for FXS.

What Next?

We were very fortunate our pediatrician was aware of FXS. She was able to comfort us, which can be rare because many doctors have never heard of FXS and are therefore unable to manage the wave of emotions parents experience with a diagnosis.

While our pediatrician gave us medical resources to learn about FXS, I chose to put them aside and look for my own answers on the internet. What would the future hold for our only son? Let’s just say, the internet is not a good place to turn for a parent who recently received an FXS diagnosis for her child. I didn’t like what I was reading on the internet and soon started to cry, the tears lasted all night.

There were so many questions: What do we do next for our son? How can we help him? Who can help us? Where do we go to get help? Our minds were spinning and we didn’t know where to find answers.

Kenny helping man NFXF local chapter FRAXSOCAL booth to help raise awareness of Fragile X syndrome.

Finally, I decided to go back to the internet and look for resources that could help our son. To my surprise, there was not much on FXS, as it’s a rare condition and not well known in any professional field.

After much searching, I found the National Fragile X Foundation and a chapter near me, the Fragile X Association of Southern California. We made contact with both organizations and received information on how we could help our son! At last we had found hope.

If I had not contacted the NFXF or FRAXSOCAL, I would probably be struggling on how to better raise our son. Learning to seek help and gather resources on FXS can be difficult because it is a rare condition and because every child with Fragile X is different and unique. But once I found the NFXF and FRAXSOCAL, I knew I was on the right track to helping our son and building a brighter future for him.

NFXF International Fragile X Conference

One of the best ways to gather resources and learn from others in the Fragile X community is by attending the NFXF International Fragile X Conference. The conference is the premier place researchers, therapists, and families living with Fragile X go to learn and discuss all aspects of the Fragile X-associated disorders (FXDs).

The world of FX is ever-changing and the conference covers such topics as medical research, technology, law, human services, and occupational therapy. As an active member and leader of FRAXSOCAL, I was thrilled to host the 14th International Fragile X Conference in Orange County, CA, July 16-20, 2014 (Editor’s Note: access session and keynote videos from the 16th International Fragile X Conference here). If you or someone you know is touched by a Fragile-X-associated disorder, please contact the National Fragile X Foundation to speak with a member of the NFXF resource team.

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