RUSP Presentation – Laura

My name is Laura Martin and I’m here with the Association for Creatine Deficiencies to tell you about my son Ryan.  Ryan will be 5 years old in July.  He was diagnosed with GAMT deficiency almost exactly 2 years ago, right before his 3rd birthday, on a genetic epilepsy panel.  Ryan started treatment, and his seizures stopped within 2 weeks. His EEG normalized.  His coordination improved.  It took awhile, but he’s talking.  He now has hundreds of words and is speaking in short sentences.  He can say “Hands are cold, Mom! Need mittens!”  He is happy, affectionate, and playful. We are so proud of him and excited for his future.

Since learning Ryan’s diagnosis, I have found myself torn between two perspectives.  I mostly try to live in the one I just described. I used to work in a home for nonverbal adults with severe intellectual disabilities, and I know what might have been for Ryan if he weren’t diagnosed so early in life. However, there is another side to the story that I want to highlight today.  And that has to do with the fact that my son has a preventable form of brain damage that will affect him for the rest of his life.  Ryan started early intervention at 12 months of age, and he has spent countless hours in therapy.  He now attends a special school for multiply handicapped children were he receives speech, special education, physical therapy, occupational therapy, and music therapy. He is still in diapers, and standardized tests consistently place him at “less than the 1st percentile” in all domains assessed. He may never be able to live independently or have a family of his own.

Ryan has an older brother, a step-sister and a fraternal twin brother. None of them has GAMT deficiency, but this disease has impacted their lives too. I feel incredibly guilty thinking of all the time and attention stolen from them while I’ve focused so much of my energy on Ryan’s care.

Coincidentally, I just happen to be a genetic counselor, which adds to my guilt as you can imagine. How could I not have known that my own son has a treatable genetic disease?! Truth is, I had never heard of GAMT deficiency before Ryan’s diagnosis, but one of my first thoughts when Ryan tested positive was “I just can’t believe this is not on the newborn screen.”  It is the perfect candidate for screening.  Untreated it is devastating, but if treatment starts in infancy development is normal.  Treatment really couldn’t be any more safe and inexpensive.

For the past two years, ever since Ryan’s diagnosis, I feel like I’ve been burdened by this terrible secret. I know that there are kids and adults out there with undiagnosed GAMT deficiency, seizing and wheelchair bound and unable to communicate. And every year that goes by without Newborn Screening the number grows.

The first case of GAMT deficiency was reported in 1994. This has gone on far too long.  I ask that you please vote today to move GAMT forward toward inclusion on the RUSP. Thank you.