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.


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.

Find this story helpful? Share it with someone you care about.

Related to Williams Syndrome

When Taylor Swift Visited a Children's Hospital, the Most Adorable Duet Broke Out

Taylor Swift gets a lot of press for who she dates, but we think she deserves some attention for who she visits. This week, for example, she took a trip to Boston Children’s Hospital, and she didn’t just take a few pictures with patients and head out — she stuck around. That generosity gave us [...]

Will You Help Me Show My Son He's Not Alone?

Lately I’ve been really curious about what autism means to my 10-year old son, Jack. I mean, I know he knows he has it. And we know he hates it. But what does it mean to him, exactly? So, I conducted some high-level research. It went something like this: “Jack, what does autism mean to [...]

Gritty Sport Helps This Young Man ‘Feel Human’

Brandon Hussey isn’t shy to point out that he has a few visible physical differences. The 16-year-old from Albuquerque, N.M., has a form of muscular dystrophy, which led to his left arm being amputated. He was also born with a rare condition known as proximal femoral focal deficiency (PFFD), which affects his pelvis and legs. One [...]

Teen Proves That Sometimes Small Wishes Matter the Most

The Make-A-Wish Foundation is known for giving children a chance to have their dreams fulfilled. For some kids this means becoming Batman for a day, but for others, like Austin James, it was as simple as riding on a train. Austin is a 13-year-old with cerebral palsy. He lives and goes to school very close [...]