On December 29, 2010, our beautiful baby boy Brian came into this world and I was instantly in love. For the next year, everything was bliss. He was reaching every milestone right on time and he filled our family with joy. We were complete.
When Brian began walking at 13 months, we noticed that he was unsteady and he often held his arms above his head for stability and balance. We talked about it and assumed, “it will come.” He was still happy, beautiful and full of energy. Brian started talking, but the speech was limited, we thought “it’s coming.” The drooling wasn’t slowing down, but we thought, “he’s still young.”
Finally, we realized that our little buddy needed some assistance. Early intervention told us that he didn’t qualify for services, and no delay was noted. We didn’t agree, but trusted the professionals. He was still happy, beautiful and full of energy.
When Brian turned two, he was still unsteady, had limited speech and was still drooling. We realized that this developmental delay was not improving and with much apprehension we started our search for a specialist with an answer. Neurology guided us through the testing process and we received a diagnosis of dystonia, a neurological movement disorder that wouldn’t ruin his life, just leave him more wobbly then most. We were devastated, but Brian was still happy, he just lacked “typical” toddler energy. We rolled with the punch, adjusted to life with this label and moved on while Brian continued his therapies at school.
We decided to add a sibling to our family and were thrilled to announce that we were pregnant with another wonderful boy! We pursued genetic testing because we wanted to know if baby Andrew could also have dystonia and if so, we could start his therapies earlier than Brian did. Life moved on after the bloodwork and months later, Andrew joined our family. Beautiful Brian became an amazing big brother and we couldn’t have been happier. We floated on cloud nine, filled with love and joy with a perfect family of four.
On August 8, 2014 one phone call changed our lives forever. What I thought was an insurance question from the genetics counselor turned out to be news that took my breath away and brought me to my knees. My beautiful, perfect, happy, brilliant baby boy had a rare progressive, recessive genetic disorder called Ataxia-telangiectasia. My mind raced as I tried to understand what the voice on the other end on the phone was saying. It seemed my husband and I were part of the 1% of the population who were carriers of the ATM gene and together, and we passed it on to our beautiful baby (AKA recessive). Roughly 500 children in the United States have it (AKA rare). Ataxia-telangiectasia is fatal and there is no cure.
This was the answer, the answer we’d been hunting for. It wasn’t just a delay we were dealing with, it was the most awful disease I’d ever heard of. I sobbed harder then I’ve ever sobbed before. My body ached with pain for my beautiful boy. I started reading about A-T and the agony and heartache grew…
“Imagine a disease that combines the worst symptoms of muscular dystrophy, cerebral palsy, cystic fibrosis, immune deficiencies, and cancer. Children with A-T are usually confined to wheelchairs by age 10 and often do not survive their teens. Because A-T is a multi-system disease, scientists believe that A-T research will help more prevalent diseases such as Alzheimer’s, Parkinson’s, AIDS, and cancer.” (A Children’s Project)
This is our new reality. Our living nightmare. Our happy, brilliant, beautiful boy who brings joy to everyone he encounters will slowly begin to progress through this disease. It’s a ticking time bomb. They tell me he will lose his movement capabilities, his speech will slur, his immune system and pulmonary function will be compromised, and he will be at higher risk to develop leukemia/lymphoma. My poor sweet angel doesn’t deserve this… no child does.
For now, we plan to make every moment count, to focus on the NOW. Right now, Brian has no idea what lies ahead and we plan to keep it that way. Come hell or high water, our boy is going to enjoy every second of this life. So every day I wake up, we play with Thomas trains, we drive Hot Wheels cars, we laugh, we snuggle, we watch Blues Clues, we enjoy the sunshine and each other.
I’m so proud to be his Mama and I’m petrified of what lies ahead. Every night when he is asleep, I let myself fall to pieces. It’s pain like no other and to be honest, I don’t know how this pain could possibly ever go away. By the time Brian wakes up in the morning, I’ve pulled myself together and he has no signs that his mama has cried all night for him – a helpless, frustrated mess.
My goal is to build awareness of this horrendous disease and help fund the research so we can find a cure. We are racing the clock to save Brian and of course the other children living this horrible nightmare. When Andrew is six months old, we will have him tested as well.
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