Hello all! Welcome to “Living Fragile,” my little blog about living with Fragile X in our family.
My name is Mick and I am blessed to be the mommy of two beautiful babies, Samuel Lee and Summer Joyce. I decided to start a blog about the daily struggles, joys, and experiences that my husband and I go through as we learn to navigate in this world while raising a child with different needs. I hate to say “special” needs. To me, a stigma follows that phrase, no matter how well meaning it is. Of course Sam is special. All children are special. Sam is just different. But as our world has slowly come to accept, different does not equal bad. It equals great, opportunity, improvement, and so many more means of betterment as people.
My little boy Sam is my angel, sent by the Lord Himself. He is joyful, and pure, and full of so much heartfelt laughter. This is a child that wants to laugh and smile through everything, even when he is in pain. He has the most tender heart and infectious smile. It takes over his entire being and you just can’t help but soak up the sunshine that pours out of his laughter, even on your worst day. People that don’t know anything about him will see him smile and laugh and you just see them break into the most giddy facial expression because his joy is so incredibly pure and beautiful.
Another something special about my little boy…he has Fragile X and is Autistic.
Most people nowadays know a bit about or can identify certain traits associated with Autism. But sadly, not many understand what you are talking about when you talk about a child with Fragile X. Fragile X is the leading cause of mental disabilities as well as the leading cause for Autism. It is identified via testing of the X chromosome for “repeats” of a missing protein that is necessary for brain development. When the number of repeats, or spots of missing protein, are identified, they are identified as your “CGG Repeat.” Usually doctors will tell you that a repeat of 40 and under is normal, but the higher the number gets, the more at risk a woman or person is for certain health concerns. A repeat of 200 or more is considered Full Mutation Fragile X and a child is expected to experience moderate to sever developmental and learning disabilities as they get older as a result of this repeat of missing protein. A permutation carrier, such as myself, would be someone with repeats between 55 and 200. Carriers can have health concerns of their own, which I highly recommend researching.
Because my husband and I knew that I was a Fragile X carrier, with my repeat count being 110, we knew that there was a very high possibility that any child I had could be affected by this. My husband and I did IVF with ICSI due to 10 years of infertility issues, and had been blessed with 2 embryos. We chose to forgo genetic testing because we felt that if God had taken us this far, the children in those little petrie dishes deserved a chance at life, no matter what. But we still wanted to be prepared to provide the best medical and educational care to them if needed, so we did an amniocentesis when doctors recommended, to find out if my Fragile X chromosome had passed along to Sam.
The results from the testing took double the time it usually takes for families. Our geneticist told us that the lab was surprised by the results, so they decided to run the tests again to verify. When we eventually got the results, 12 weeks later, we were informed that our son, Samuel, had two separate counts. We were told that this can happen, though rare, and is known as Mosaicism. The doctors informed us that Sam had one count that fell in the carrier range, and one count that was a fully mutated count. The issue, and blessing, was that there is no way of predicting what types of developmental and intellectual disabilities Sam would endure. We would not know until he reached an age and was not meeting a certain milestone or achievement that average infants and children do. We were asked repeatedly, up until my 7 month of pregnancy, about considering abortion by doctors. I can’t tell you how many times I wanted to cry and also throat punch a doctor because he or she was trying to convince me that my child didn’t deserve to live because the way he learned would be different than the average child. I understand that the option must sometimes be presented due to legal reasons, but after my first emphatic no, I feel that should have been enough.
For months, our doctors warned us that my son would be fully mentally handicap. The thing is, doctors say this, but they never really tell you what to expect that looks like in a baby. But let me tell you, it looks like perfection. Because when my little boy was born, via cesarean method due his stubborn breech position, he looked absolutely gorgeous. He was covered in hair, all the way down his back, scrunched up face and fighting fists waving in the air in anger over being removed from his comfy spot against my ribs. He was perfect. In every possible way. 8 lbs 9 oz, 20 3/4 inches long…he was heaven in human form. And nothing that any doctor or specialist said could take away the value he had as human.
Each month and year since his birth has brought it’s own questions, fears, and insecurities. And yeah, they may be different than the typical fears of parents of children without Fragile X or Autism…but some of the fears are the same. We all want the best future for our kids. We all worry about them fitting in at school, and making friends, and feeling loved. My fears may be more detailed, and may last longer than average parents. But you know, my son is happier than most little boys his age. And he needs a lot less to feel joy and love than my daughter, who does not have Fragile X, needs. All kids are special. Some of them, like our little Fragile angels, are just a little different.