Learn more and register for the Rare New England conference on September 23, 2017. The theme is “Improving Health Care Experiences in the Rare Disease Community with Information and Support.” The focus will be on services and resources available to the rare disease community. RNE’s mission is to bring together New England patients, families and providers touched by rare and complex disorders. They offer educational opportunities, create awareness of available resources, and build foundations for support to improve patient quality of life.
Almost three years ago, my husband and I were enjoying the first few days home with our new baby boy, Isaac. That morning I called the doctor’s office to ask about some gunk around Isaac’s eyes. It turned out to be nothing, but before I got off the phone, the doctor said that she had one more thing to share with me: There was an out-of-range result on our son’s newborn screening. We needed to bring him back in for repeat testing as soon as possible. She spelled out the name of the disorder for us: Glutaric Acidemia type 1 (GA-1). I had never heard of anything like it. The name itself sounded scary!
I didn’t have time to think about it and rushed him in to have more testing done. They checked to see whether he was eating and acting normally. He was only five days old – what was normal?! I could tell by the nature of the conversation that this was not something to take lightly. After the kids went to bed, I finally had time to look up what this crazy thing was. I remember it like it was yesterday. I was in one room of the house and my husband was in another, both of us feverishly searching online for information about the disorder. I saw so many scary words that night. I remember meeting my husband out in the living room and just holding each other and crying.
Newborn Screening: The Diagnosis
Glutaric Acidemia type 1 is a rare genetic disorder. Babies with GA-1 cannot break down protein properly. This can cause harmful substances to build up in their blood and urine, affecting their health, growth, and learning. Without treatment, almost all children affected with GA-1 will suffer what’s called a metabolic stroke within their first two years of life.
At seven days old, we confirmed that Isaac had GA-1, and we began treatment. I was one of those people who knew newborn screening happened, but never understood how essential it is to saving so many babies’ lives! We learned that with treatment a high percentage of children with GA-1 lead perfectly normal lives.
It was devastating to learn that Isaac had this terrible disorder, but in the back of our minds (and through all of the crazy diet changes, formula feeding, doctors’ appointments, and medicines) we clung on to the idea that he had a chance that he would not have had without a newborn screening.
Our Family Today
Today, Isaac is almost three years old. Looking at him you would never guess there is anything different about his life. He is a crazy toddler who is happy (well, almost all the time!). He is walking and talking and pretty much kicking butt at whatever he does.
Now that things have calmed down for me I want to give back as the parents before me have done. Without parents fighting for GA-1 to be included on the newborn screening panel our lives would be very different.
Rare New England
I am a volunteer for Rare New England, an organization that is hosting a conference for patients and families with rare diseases. Vermont is a small state and it has been hard to connect with other families living with similar circumstances. We hope this conference can bring people together to learn about what Vermont has to offer for the rare disease community. We also hope people will be able to make connections that can continue long after the conference.
Learn more and sign up for our event “Improving Health Care Experiences in the Rare Disease Community.” The event is co-hosted by the University of Vermont Children’s Hospital.
Allison Wood lives in Fair Haven, Vermont, with her husband and two children Maryanne and Isaac. She is a volunteer event coordinator for Rare New England. She is a member of the Organic Acidemia Association and also a consumer task force member for Baby’s First Test.