Fragile X

By Robin and Weston Blackwood
November 16, 2011

Developmental Delay

The best place to start our story is with two words. Developmental Delay. These two words put my family down a road we were not planning to be on but because our first child was not hitting important milestones, we sought answers to help us find out what was keeping our son from progressing. Fortunately, we were blessed to have our son in a child development center that was instrumental in us acting quickly to identify Sam’s diagnoses. Because his delays were mild and because we were new parents, we feel a lot of gratitude towards his caregivers at BJA for advising us to seek answers. The answer we finally got after 6 months of searching was Fragile X Syndrome, something I had never heard of or knew was part of my genetic make-up. It has been traveling for several generations in my family and no one was aware of its presence until Sam was born because carriers don’t have symptoms. Approximately 1 in 250 women and 1 in 800 men are carriers of Fragile X and many families carry this pre-mutated gene for generations before it is realized, as in our case.

Fragile X Syndrome

Fragile X syndrome (FXS) is a genetic condition affecting the X chromosome, present from birth and is the most common known cause of inherited mental impairment. When the full mutation form of Fragile X appears in a family member, it can cause a variety of intellectual, sensory, behavioral and physical differences, ranging from subtle learning problems to severe developmental disabilities. FXS affects both males and females, though males tend to exhibit more severe symptoms. It affects people of all races and ethnic groups worldwide.

Developmental delay is usually the first sign that most parents see if their child has Fragile X Syndrome, and we were no exception. Sam needed more support than most his age to sit up, and he crawled a few months later than most. Although he tried to walk at one, he didn't take his first steps on his own until 15 months. As I mentioned earlier, his delays were mild when he was a baby but got more prominent with each month. For example, he had no expressive language and wasn’t imitating others or saying any words. Once professionals evaluated him, it was determined that he was delayed in gross and fine motor skills and with speech. This report led us to genetic testing at the recommendation of his early interventionist and 4 days short of his 2nd birthday, we had the diagnosis of Fragile X syndrome.

A Roller Coaster of Emotions

A roller coaster of feelings set in from confusion, grief and guilt to sadness. But our faith has never waivered, and we know we have a new road to follow and we are not alone in this journey. God says in I Thessalonians 5:18 “Give thanks in all circumstances, for this is my will for you.” We also find strength in "Never will I leave you; never will I forsake you” in Heb 13:5. After all, this is God’s will and we will make sure Sam has all the resources, support and love any child could want. I feel blessed to live in a town that supports the Special Needs community and know that the road ahead will be uncertain and full of obstacles. However, we know we can depend on the heavenly father for ALL our needs and that with Him, anything is possible. Jeremiah 31:25 says, “I will refresh you when you are weary and satisfy you when you feel faint.”

For more information about Fragile X, please visit:

www.fragilexawareness.com
www.cdc.gov/Features/FragileX
fragilexworld.tumblr.com
www.fragilexcanada.ca
 



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