When We Got a Diagnosis I'd Never Even Heard Of


It’s funny how two words can be everything. Williams syndrome. I’d never heard of it. I left the specialist’s office with a list from a dated textbook filled with complex medical descriptions but not sure how serious Luke’s case was. I remember sitting in the car with the realization that the news we were given was real and much worse than I thought. Then the sobbing started. In the parking lot of a store. After eight and a half months of telling every doctor that something was wrong, I finally was given some answers. Finally the sleeping issues, the cardiac issue, the developmental delays and constant constipation all made sense.

Later that night my husband and I started searching for everything about Wiliams syndrome. I found some support groups and the APA medical treatment guidelines. The next day we went to our family doctor with a list of tests. Two days later we had another ambulance transfer to University of North Carolina hospital. We were in the hospital for five days and finally saw the genetics department we’d been waiting to see for five months already. We talked and talked and talked. We had lots of medical students come in and hear the whole story. I remember the vice dean of the medical school asking me to talk to her medical students about Williams syndrome. Talk about something I’d only found out about three days prior. Today, I feel like it was all a dream.

Looking back to the day we got our diagnosis I would tell myself this: It will be OK. There will be bad days, there will be worse days, but there will be a lot of joy and celebrations. Even with this diagnosis, life would be all right — different than what we thought but OK. We will have an amazing medical team and therapists who will be there to help. With the medical issues, we will still have a smiley, happy son who will spread joy to all he meets. Our love for Luke will be greater. His sister will be fine and a more caring, protective sister than she already is. Milestones met will be a greater joy, weight gains will cause happy dances and lots of smiles and laughs that melt your heart. I would tell myself it’s OK to cry and have questions. I would tell myself you’re strong enough to do this even with little sleep. It will be a roller coaster, but roller coasters are a lot of fun too. You find your true friends when faced with the hardest times in your life. You’re not alone in this and the other families will be more supportive than you ever dreamed. Acceptance will take time and mourning is OK too. But most of all I would tell myself, you’re truly blessed to be Luke’s mommy.

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The Mighty is asking its readers this question: If you could go back to the day you (or a loved one) got a diagnosis, what would you tell yourself? If you’d like to participate, please send a blog post to [email protected] Please  include a photo for the piece, a photo of yourself and 1-2 sentence bio.

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