National Rare Disease Awareness Week: My Son's Story

“I’m the mother of a special needs child.” It took me years to be able to say those words. The words themselves flow easily, don’t get me wrong, but it’s the weight that they carry that makes them so hard to get out. They change your life immediately and once they’re said you know there isn’t any turning back. After years of resistance, I can say with certainty that I have a special needs child who will be under my care forever. My son, Reid, was born with X-linked Creatine Transporter Deficiency, one of three rare Creatine deficiencies that directly impact brain and muscle function. He battles daily with muscular and movement disorders, global developmental delay, expressive language delay, intellectual disability, autistic behaviors and seizures. So, Reid is rare…and special too. There was a point not all that long ago when I would fall to pieces thinking about the reality of our situation. I’d consider what it meant to be rare and special and how it would not only impact Reid, but our whole family. I’d mourn over the “not haves” and “can’t dos” and the loss of any hope for a normal life. A life that would now be spent caring for this rare and special child. Reid, is now five years old. He still wears diapers, feeds through a tube and does require constant care. As time has passed I have experienced the challenges of Reid’s disorder, felt the stares, and have come to understand what it really means to be rare and special. Being rare and special does impact the entire family, but not in the mournful ways I once thought. Reid’s needs have taught us compassion, patience and unconditional love. He forces us to dig deep for strength and to persevere. Rare and special has not only shaped our lives, but it has shaped our character. As I celebrate Rare Disease Day, I think about all the rare and specials out there just like Reid who are touching the lives of those around them - in ways that only rare and special can. They are different than you and me. They face adversity each day without hesitation and never judge, even when judged, because that’s what rare and specials do. I have a special needs child who infects us with his energy and brings us joy in ways we never knew. We live each day as it comes and are more thankful than ever for life’s simple pleasures. Reid's disorder has enriched our family. And to me that’s pretty rare and special. On days like this, I like to give a special thanks to Texas Children’s Hospital for their instrumental role in identifying Reid’s genetic disorder. Creatine deficiencies are rare, but often misdiagnosed due to their likeness to other conditions such as cerebral palsy and autism. The doctors at Texas Children’s Hospital didn’t stop searching for answers and are the reason I now know the depths of my rare and special little boy. Read my previous blog about Reid, here. To learn more about Creatine Deficiencies, please visit: www.creatineinfo.org