When Fragile X comes into your home

About 16 years ago, I learned a new medical term - Fragile X Syndrome (FXS).

I learned it when our middle son, Mark, was diagnosed with the genetic disorder when he was less than two years old.

It took several months to get a diagnosis. Sarah, who was already a mom twice over before Mark was born, knew something wasn’t right. Mark was just not developing cognitively like he should have been. The doctors basically said, “Oh, he’s just late developing.”

Sarah, though, was not having it. She knew something was wrong. She went into mama bear mode. Sometimes, a mother’s instincts trumps a doctor’s degree.

We insisted on getting him tested. Tested for what, we did not know. Eventually, the genetic testing revealed he had Fragile X Syndrome. Back then, FXS cases were not diagnosed until children were about two or three years old, so the fact Mark’s was caught earlier than usual was a blessing.

If there is such a thing as the most common rare disorder, Fragile X Syndrome is probably it. FXS occurs about in one in every 4,000 males and one in every 8,000 females.

This Saturday, July 22, is World Fragile X Day. It is a day to bring awareness to this genetic disorder that affects thousands of people worldwide.

Quoting from the “What is Fragile X,” website which can explain it so much better than I can, Fragile X is “the most common inherited cause of autism and intellectual disabilities worldwide and at present, there is no cure.

“Fragile X syndrome is a genetic disorder that occurs when a single gene on the X chromosome shuts down. This gene makes a protein needed for normal brain development. In FXS it does not work properly, the protein is not made, and the brain does not develop as it should.

“FXS can affect both sexes. Females generally have milder symptoms than males, although there is a lot of variation and no good way to predict this. While most males have intellectual impairment, only one-third of females have significant intellectual challenges. The rest have either normal IQ or learning disabilities. Math is often a particular challenge for females. Emotional and behavioral problems are common in both sexes.

“Both boys and girls may have delays in learning to speak, but most individuals with Fragile X are verbal. Lifespan for people with Fragile X syndrome is generally normal. Most affected people have active lifestyles and good health.”

We’ve been fortunate that we haven’t had to deal with much of the negative aspects of FXS. Mark is 17 and intellectually is about 7. He is not autistic. He doesn’t lash out or have behavioral issues.

He has a hard time communicating his feelings and he has social anxiety, which causes him to withdraw. He does not handle change well and is easily excitable.

I really wish people could see the Mark we get to see. He is funny and helpful around the house. He won’t sing in church, but he will belt out tunes at home or in the car. He is thin but can probably out-eat most grown men. Whenever a family member is looking for something around the house that is misplaced, we will ask Mark and there’s a good chance he knows exactly where it is. The amount of times he has told me over the years where I put my glasses down is probably nearing triple digits.

When I was younger, I would see parents with their special needs children and wonder how I would handle it if I ever had a child with special needs. Well, God showed me.

I’ve never met another person, that I’m aware of, with FXS. There is an active Facebook community of parents with FXS children. It’s great to be able to share with those who know what you are going through.

I remember one time several years ago, a mother of an FXS child was talking about what she said when she was asked about what it is like have a child with special needs.

Here response was, “It’s like regular parenting, except it’s just more.”

I can’t think of a better way to describe it. It’s just more.

Mark will be living with us for the rest of our lives and then after we’re gone, we’ve already talked to our other children about how to best proceed with his care as he’ll never be able to be truly independent.

He’s not a burden. He’s our son and our family would not be complete without him.