“With a Little Help from My Friends” – Amy

Before we found out about Ben’s Creatine Transporter Deficiency (CTD) diagnosis, he was diagnosed with infantile scoliosis due to his hypotonia (which was a result of CTD, we later learned). Any diagnosis is two-pronged – you feel happy to have an answer to a mystery, and yet you have a diagnosis which presents many scary and helpless feelings.

Knowledge is power – you know the saying. It’s true, though. Once you know what you’re facing you can go online and search for information and answers to questions. You can find others out there who are experiencing what you’re going through, or someone who already has.

I’ve been lucky to find resources and support for both of Ben’s major diagnoses in our journey – and it’s been a godsend.

I didn’t even know infantile scoliosis existed until Ben was diagnosed. When I researched it, I found an organization dedicated to spreading awareness and providing information to doctors on a treatment that wasn’t widely used, but successful. I also found a vibrant Facebook community of other parents whose children had scoliosis, too. I learned so much about the treatment method, how to discuss it with doctors, and be an advocate for my child. The support and information I received from the organization and the community helped me be prepared, ask questions, and calm my fears.

When the CTD diagnosis came to us, I was ecstatic to find a similar, if not better, structure in place. CTD is a scarier diagnosis given what is known of the condition. Scoliosis can be cured, and for Ben it was, but CTD is lifelong with no treatment.

And like the infantile scoliosis community, I quickly found we are not alone. There is a very well-structured organization behind us doing the hard work of education and advocacy to states, physicians, non-profits, pharmaceutical companies, and more. I was provided with all the information available on CTD so I could be more informed as a parent and caregiver. And most of all, I was connected to a community of others like me with CCDS loved ones. I feel better prepared to face Ben’s CTD diagnosis and move forward than I ever would have if this structure didn’t exist. CCDS was discovered in 2001, and already, so much has been accomplished that it gives me hope for the future, and for Ben.

The unsung heroes of these communities are the ones who, at one time were alone, had to fight for their children to find answers, build a structure for education and advocacy, get doctors and companies to care, and gather the community. To them, I am eternally grateful and in awe of the strength and determination that must have taken. It’s why I want to help carry the torch forward too, and give back to the community that means so much to my family.