Wednesday, April 4, 2012

The Beginning

We're adjusting to our new normal now. It's been 12 days since Gabe was diagnosed with Fragile X Syndrome. I have cried all the tears I have available at the moment, though I suspect there will be more to come throughout our journey.

Gabriel was born on March 19, 2010 at 10:35AM. Jake and I were so excited to have him join us, and we thought he was perfect. When Gabe was a few hours old, I noticed his eyes were jittering back and forth and my Mommy Gut told me something wasn't right. I asked two different nurses, and they both assured me that newborn eyes are just funny sometimes and it was nothing to worry about. We spent the next 8 weeks in a sleep deprived bliss. We were so in love with our new baby. Exhausted and overwhelmed, sure. But in love nonetheless.

At Gabe's 8 week well baby check-up, his pediatrician noticed the eye jittering that Jake and I had noticed 2 months earlier and diagnosed him with nystagmus. She told us that Gabriel might be blind and referred us to a pediatric opthamologist. That was the first time I cried because I was scared for my baby's future. There would be many more days like that to come. We saw the opthamologist two weeks later, and to date those were the longest two weeks of our lives. The doctor let us know that Gabe wasn't blind, but that nystagmus is usually caused by something in the brain, rather than the eyes. He wanted to see us back in 2 months and Jake and I quickly moved on. Always keeping his eye condition in the back of our minds, but moving on anyway. At the advice of his pediatrician and opthamologist, he had a brain MRI done under anesthesia at 9 months old, to make sure there was nothing out of the ordinary (like a tumor) causing the nystagmus.
Gabriel met his early physical milestones relatively on time. He rolled over and sat unsupported well within regular timeframes, if not early. He crawled at 8 months, and walked at 15 months. Not super early, but not "late" either. At this point in Gabe's development, I was still obsessed with baby books and websites, constantly comparing my child to all the other children. Despite the fact that I immersed myself in child development, I somehow overlooked the fact that Gabe's language skills were very much behind at this point. By 15 months old, a child should be babbling many different sounds. Both constanants and vowels. Most will also have 3 singular words, not including Mama and Dada. Gabe didn't babble at all. He had no words, and thinking back on it, he was always a very quiet baby. Unless he was upset about something, he was pretty much silent. There was never the coos and gurgles you hear about babies doing. Our pediatrician put us in contact with Early Intervention, and after an evaluation, Gabe started weekly speech therapy. Jake and I were constantly defending our choice to start him in ST. Coworkers and friends responded with, "you have your one year old in speech therapy??? One year olds don't talk!" I was blown away when the educators that were evaluating him also said Gabe had a fine motor delay and we should meet with an occupational therapist on a much less frequent basis, just to make sure he caught up. I really thought he was meeting all gross and fine motor skill milestones.

At this point (18 months old), I started pushing our pediatrician to send Gabriel to a pediatric neurologist. I knew there was more to Gabe's story. I felt very isolated, like I was the only one who could see what was happening to my baby. Gabe did see a neurologist and then a geneticist. They did several tests on him, including a full genetic microarray. Everything came back normal. We were told to come back when he was 2 and they would check to see where he was developmentally and what progress he had made.

A few months later, Gabe had the first of his terrifying seizures.  I know now that 25% of kids with Gabe's condition have seizures. But I'm getting ahead of myself there.
Well, the months went by. Speech therapy led to occupational therapy, which led to physical therapy. The gross motor skills that Gabriel had always done well with as an infant, he was now struggling with as a toddler. Yes, he could walk. But he made no attempt to run, jump, or reach on his tiptoes. When he received a PT evaluation finally, at 22 months old, he was almost a year behind in his gross motor skills. And because we didn't have enough going on, therapy-wise, EI threw in feeding therapy as well. Gabe has always been very underweight  (below the 0% on the weight charts). He's a picky eater to an extreme that is beyond frustrating. He receives most all of his calories from Pediasure.

At this point, shortly before Gabe's second birthday, Jake and I were adjusting to 4x weekly therapy and quit pushing for a diagnosis. Gabe didn't need a diagnosis--he would do things in his own time and eventually catch up with his peers. No big deal.
I need to sidetrack from Gabriel for just a second. At this point, a diagnosis for Gabriel was the last thing on my mind and instead I was focused on my own health. Long story short, my OB/GYN let me know that she thought I was going through menopause. I am 26 years old. Then she asked me the question that would ultimately change our lives. "Does your son have any developmental delays?" When I explained everything we had been going through with Gabe, she asked if he had been tested for Fragile X Syndrome. I remembered finding FXS on Google, six months prior when I was in my I-Need-To-Find-Out-What's-Going-On phase. I pieced it together in my head instantly: The early-onset menopause of carrier women, Gabe's ongoing delays, it all made sense. My heart sank, and I knew immediately that we had a diagnosis for our son.

I called Gabe's pediatrician and asked her to read me the results of his FXS test. (I thought this had been done already, when we saw genetics months earlier). His doctor said that she didn't see where Gabe had ever been tested for Fragile X. Gabriel, Jake and I were all tested. Gabe's results came back as him having the full mutation of FX and I'm the carrier with a premutation.

I spent the next several days in a haze. I grieved for Gabe's future, and also for me and Jake's future. What was going to happen? Would Gabriel ever live independently? Drive a car? Get married? Will the other kids in school make fun of him because of his differences? As for having more kids, I wrote that off instantly. Jake and I agreed long ago that if Gabe's delays were because of a genetic condition, we wouldn't have more biological children. There may come a day down the road (a LONG way down the road) where we would consider adoption. But not anytime soon.

Gabriel's diagnosis is still very new and I know there will be plenty of ups and downs along the road. But as of today, I'm content. My son is making progress with his therapies. Everyone who meets him falls instantly in love with him. He's sweet, cute, absolutely hilarious, and incredibly loving. Basically, he's still the perfect baby we thought he was as a newborn. Jake and I are incredibly blessed to have been chosen to raise this child. Just hours after Gabe was diagnosed, I was on the phone with my Dad. He said something I don't think I will ever forget: "Gabe is going to teach all of us so much more about life, than we will teach him."

1 comment:

  1. Kristin,

    Thank you for sharing your story about Gabe. I didn't know you were dealing with any of this. Having two children with special needs myself, I can relate to all the feelings you are having. Caitlin has early-onset Bipolar Disorder, and Dylan has Aspergers Syndrome. I I will keep you, Jake and of course little Gabe in my thoughts. I sounds like God chose the perfect two people to care for that precious little boy.