My Story (Authored December 2005)

Many people say, “I wish I had known then what I know now."

I wish I had known.

It started when Caden was nine months old and wasn’t reaching certain milestones such as sitting up or crawling. He had always been a ‘back-baby’ and not a ‘tummy-baby’ and I figured he lacked some of the upper body strength because he never wanted to be on his stomach. His pediatrician thought otherwise and was proactive enough to refer me to my county’s infants and toddlers program where Caden received occupational, cognitive and physical therapy once a week. This progressed and Caden would make small improvements, but not substantial enough that the program therapists recommended he see a Developmental Pediatrician, who evaluated him and then referred us to a Geneticist.

Scary to say the least. I looked back at my husband’s family history and mine and we had no sign of any abnormalities or genetic problems. We just thought maybe he was a little slower. Caden looks normal and for the most part acts normal. We always heard boys were slower than girls in milestone achievement. But this was not the case. We met with a great Geneticist and she evaluated Caden and ran the first round of tests. They all came back negative. We were relieved thinking, “well if her first instincts were wrong, maybe there’s nothing wrong.” Well we were proven wrong on the second set of blood work and we were lucky she only ran this test to check it off her list; she didn’t even think ‘he met the profile’ for Fragile X.

What a horrible phone call to get at work knowing something I carried in my gene pool was transferred to my son and now he would pay for it for the rest of his life. It was crushing. It’s every parent’s worst fear, except for death, that his or her child would be diagnosed as impaired or retarded.

No touchdowns, no applications to Duke or Harvard, no grandkids. My son was diagnosed with Fragile X on May 10, 2005.

Fragile What? Yeah, that’s what I said too. I had never heard of it. Fragile X is the most common inherited cause of mental impairment. It is also the most common known cause of autism. It is second to Downs Syndrome as the leading cause of mental impairment. Fragile X affects 1 in 4000 males and 1 in 6000 females of all races and ethnic groups (source Centers for Disease Control (CDC)). About 1 in 259 women carry fragile X and could pass it to their children as I have. About 1 in 800 men carry fragile X; their daughters will also be carriers. Many carriers also face side effects. It is carried on the X chromosome, so women who are carriers have a 50/50 chance to pass it on to their children. Men only pass it on to their daughters.

There are two mutations of the gene: premutation and full mutation. Carriers have a premutation of the gene -- like I do --where there is no mental impairment but other side effects. My son has a full mutation, which means one gene has shut down causing delay and mental impairment. It is too early to say to what degree Caden is. Think of it as a bell curve with a normal IQ to the far right percentile and being institutionalized in the far left portion with the majority having a lower than normal IQ. Every persons X gene has a ‘repeat’ number. Normal people’s repeats are less than 55. Carriers like me, our repeats are 55-200 and once the gene mutates and repeats over 200, there is a full mutation. Caden’s count is 600, mine is 108.

Caden is the first in my family to be diagnosed. Remember where I said earlier that there are side effects associated with being a carrier, well I'm one of the lucky 20-28% of FX carriers experiencing Preovarian Failure or POF. Another lucky 25% of FX women carriers get early menopause.

I wish I had known.

Caden is the sweetest child in the world. We truly believe he was born for a reason. He melts everyone heart no matter where he goes, he has this smile that draws complete strangers in. I know everyone says that about his or her children, but he was put on this earth to touch people. And I’m starting to come to the realization that he was put on this earth for me to touch people as well.

So back to reality.

If any of you know me well, you know I’m not satisfied with what’s handed to me. I always have to take on another project or do something. So, I went straight to the source. I contacted and went and met with the President and co-founder of FRAXA, the Fragile X Research Foundation. She was at a conference in DC in November and her organization has local chapters, there are about 12 nationally. FRAXA's mission is to find effective treatments and a cure for all children and adults with Fragile X. FRAXA has funded over $11 million in research at universities around the world since its inception in 1994. These local chapters typically run small-end to large-end fundraisers from yard sales to dinner galas. So I said, “I can do that.” I sort of almost had an epiphany that maybe this is the reason I went into the field of Marketing. Now I can use my experience and contacts for good versus evil.

Thanks for listening and feel free to share my story.

Lindee Norton