Fragile What?

If you have known myself and my family for long, or if you are just beginning to get to know about our story, you are well aware that our son has a disability. It's a bit of a sneaky disability, however, because just looking at Joshua wouldn't allow a person to know that he is different than any other 8 year old. Only after having spent time with him would you know that something serious was going on inside of him. I want to take a minute and explain Joshua's disability because even though I use the term "Fragile X" a lot, I have not had a chance to explain exactly what that means to everyone that is invested in our story.

I should give you a little history. My pregnancy with Joshua was far less than ideal. Due to a previous, very serious injury, my body did not handle his pregnancy well. To make a very long story shorter, I was put on bed rest and spent nearly 8 months of my pregnancy in the hospital. After having tried to fight off early labor many times with the use of medication, Joshua was born about 6 weeks prematurely. He had some breathing problems because his lungs were not yet fully mature. He also failed his newborn hearing test. Other than these issues, he appeared to be completely healthy.

However, almost as soon as we returned home from the hospital I began to notice things that made me concerned. As a newborn, Joshua would not look towards me when I talked to him. I remember asking my mom if she thought babies could be stubborn from birth because that's kind of how it seemed. It was almost as if he was choosing not to look towards me. I should have been more cued in at that point, but I brushed it off thinking that maybe it was just a personality trait.

I continued to become more and more concerned about him everyday though because he was not meeting any of his developmental milestones. Each time I would take him in for his well child check ups, they would test him for the milestones and he was way further behind than most babies his age. The doctor assured me that he hadn't reached these because he had been a preemie and that I shouldn't worry. He would grow out of it. But as he continued to grow, he also continued to be significantly delayed. He did not roll over for many months. He was completely non verbal. He did not sit up unassisted until he was about 11 months old. There were lots of other normal developmental milestones that he was not reaching.

After hearing for 2 full years that Joshua would "grow out of this" I decided it was time to consult a specialist. The biggest reason I made this choice was that he was not yet standing independently when he was about 2. It was then that we hired in home therapists to come and work with him. This was also the point at which we started seeing specialist after specialist. Again, I will keep the very long story shorter by sparing you all the details of each of these appointments. The gist of all of the appointments was that lots and lots of doctors agreed that something was wrong with my son, but no one actually knew the cause of his delays.

We were pointed in the direction of the Children's Hospital developmental testing clinic when Joshua was 3. They observed him and tested him and we came out of that with a diagnosis of Autism. The doctors believed that Autism was the most likely culprit for Joshua's delays. Armed with that information, Joshua was put on an IEP (which is a fancy term for a learning plan that would help him get all of the therapies he would need, as well as setting attainable learning goals based on his delayed development).

At 3, Joshua started preschool. He was placed in a school that had speech, occupational, and physical therapists as well as a special education teacher. He LOVED school and really wanted to engage with the other kids and with the adults as well. He also wasn't showing many signs of Autism. As the school year progressed, his therapists and teacher set up a meeting to discuss their concerns with his Autism diagnosis. They all agreed that he did have some autistic tendencies, but they also all agreed that they believed something else was at play. From here we were pointed in the direction of genetic testing.

Honestly, up to this point was hard...very hard in fact. Emotionally I was a mess. The first time I heard the term "disabled" used to describe Joshua in a professional setting I sobbed. I actually sobbed for weeks. I had always wanted to believe that he would truly just grow out of his delays. I would think as soon as he says his first word, maybe then he will catch up. As soon as he walks, maybe then things will start coming together for him. But he never grew out of being very far behind "normal" kids his age. I do have to admit, though, that as soon as genetic testing was suggested I completely lost it. I didn't know much about genetic abnormalities, but I did know that a genetic abnormality could be an actual death sentence. I was beyond terrified. So, I cried...A LOT, then put on my big girl panties and took him in for the testing.

Honestly, this part was a blur. The doctors took blood, did mouth swabs, etc. and talked a lot, though I truly did not hear a word they said.  I was completely overwhelmed and so scared. A few weeks later the test results had come back and I was informed that Joshua had Fragile X Syndrome.

Up until that second, I had never heard that term before. Little did I know that it would become a gigantic part of our lives! "Fragile what?" I remember asking. Again, there was a lot of medical terminology thrown out that I didn't completely understand. My biggest concern was "Is Fragile X Syndrome a terminal diagnosis?"

Here is what I found out. First, Fragile X is NOT a terminal diagnosis. Basically, what happens is that when a child is conceived, that child receives at least one X chromosome. Girls have 2 X chromosomes and boys have 1 X chromosome and 1 Y chromosome. When a child has Fragile X, the long arm of the X chromosome is basically broken. There are a lot of medical terms that explain this, but in layman's terms, the X chromosome has breaks in it. A few breaks on that long arm of the X are actually kind of normal, but more than just a few are not. If a person has 200 or more breaks in that arm, they are considered to have a "full mutation" which is basically just full blown Fragile X Syndrome. Lots of kids have many more breaks than 200, but 200 is the magic number that separates kids into the full blown Fragile X Syndrome category. It was discovered that Joshua has over 700 breaks on his X chromosome, for those of you who were wondering about his number specifically.

The Facts:

Fragile X syndrome is the leading known cause of intellectual disability. It is also the leading known genetic cause of Autism. Both boys and girls can have Fragile X, but boys are more severely impacted in most every case.  Common features of fragile X syndrome include:
Physical: Large ears, long, narrow face, prominent forehead or chin, high palate (roof of mouth), flat feet, seizures, crossed/lazy eyes, tendency for ear infections, hyperflexible joints.
Behavioral: Developmental delay, learning and intellectual disabilities, ADHD, hand-flapping and/or biting, poor eye contact, shyness, anxiety, behavior issues, speech/language delay, rapid, repetitive speech, increased sensitivity to sounds, touch, crowds and texture.
Finally, not all people that have Fragile X Syndrome exhibit all of these symptoms. Some people have all of them, some have a few. Not everyone who has the symptom experiences it to the same extent as someone else who has the same symptom. Basically, each Fragile X-er is different even in the ways in which they experience their disability.

There are a bunch more facts about Fragile X that I won't go in to just because if I did, I could write a novel! But if you want to learn more www.fragilex.org is an excellent place to go for information.

Joshua is actually pretty proud of his Fragile X Syndrome. He is VERY interested in super heroes and the X-Men are super heroes BECAUSE they have mutated X genes. So does he, so he believes he is an X-Man. To me, he definitely is a super hero and I often refer to him as my Fragile X Man.

I want to thank each and every person who cares about us. I am grateful for the support that you give. I truly couldn't get through a lot of this without you. Also, I hope that this post gives you a little better understanding of what I'm talking about when I mention Fragile X, which I will probably do about a million more times.