r story

I first heard of fragile X syndrome on Valentine’s Day in 1997.  I was a 19 year old single mom with the most adorable son who was 9 months old.  My son wasn’t meeting developmental milestones so my family physician sent us to a pediatrician.  The pediatrician ran a battery of tests: an MRI, a chromosome test, a hearing exam and a vision exam.  When we got to the pediatricians office, to get the test results,  we were ushered past the waiting room to his actual office.  He came in almost immediately and told us the news.  I don’t remember much except that he started with the hearing exam which came out perfect.  The MRI showed a little fluid on his brain that was to dissipate in development, which it has.  The vision test showed that his eyes were underdeveloped but could catch up in time.  But the results of the chromosome test would define us forever.  My son has fragile X syndrome.  The pediatrician told me that it was genetic, that it had came from me and I had a 50/50 chance of passing it on.  I blanked out after that.  I was there.  I was answering questions but I was on autopilot.  I still can’t remember what he said but he said it with such compassion that he has been our pediatrician ever since. (Matt’s father left the day of his diagnosis and officially gave up his rights in 2006.)

Two years later I welcomed a daughter who also tested positive for fragile X syndrome.  The odds apparently weren’t working in my favor so I had a tubal ligation to prevent future pregnancies. (Rachel’s father left in 2004 for a woman who had no children and a much simpler life.  He is still active in Rachel’s life though still troubled and confused with the FXS life.)

After a couple failed attempts at love (couples with handicapped children have an 80% divorce rate!!) I found an incredible man who adored my unique children and we married in the summer of 2006.  I gained two very healthy step-children with my marriage.  We have the complete package with lots of highs and some lows.

Who we are:

Kevin ~ the dad     Beth ~ the mom; FX carrier    Lauren ~ 16; 11th grade; no FX     Austin ~ 13; 8th grade; no FX     Matthew ~ 12; 6th grade (we have him paced….4 yrs at each school….so grade don’t really matter much); full FX     Rachel ~ 9; 4th grade; full FX

*all names changed to protect our family