ONCE UPON A GENE - Episode 120 - What Happens Now - Baby Boy is a Medical Miracle After Being Treated for Spinal Muscular Atrophy Type 1 with Kathryn Alexander
Kathryn Alexander joins me for a part two segment to further discuss her unique rare disease experience. Through newborn screening, her son Connor was diagnosed with Spinal Muscular Atrophy (SMA). It's one of the five percent of rare diseases that has a treatment and her son is among the youngest to receive it. She highlights the fear, isolation and guilt she feels as she moves beyond treatment.
EPISODE HIGHLIGHTS
How did Connor's diagnosis and cure affect you emotionally?
While you think you'd be relieved and thrilled to have a treatment so you could go on about your life, that wasn't my experience. He's living pre-symptomatically and he's able to do things that other children with his condition can't do, which is amazing. His therapy could last his whole life, but it also potentially couldn't. There are so many unknowns that it leaves me a nervous wreck and I don't have a sense of relief. I feel scared, confused and extremely isolated because no one else is in the position that I am. I also feel a lot of guilt that Connor received treatment when so many other children haven't.
What advice do you have for parents who feel separated from the rare disease community?
I like to practice the four A's- acknowledgement, acceptance, action and assessment. I think you have to abandon your definition of acceptance and redefine it for yourself. For me, acceptance is understanding something is true, it happened and it exists. Taking action helps me to feel like I'm making a difference, which helps me grieve, process and feel like I'm part of something even though I don't have a community of people around me who share my experience. This has helped me to make connections and has helped me in general.
LINKS & RESOURCES MENTIONED
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