It all started with a phone call from my oldest child, who was 16: “Mom? Claire-Lynne’s knee is really swollen. Something’s wrong.”
I quickly left what I was doing in town and rushed home, about 45 minutes away. When I got there, I saw that my 10-year-old daughter’s knee was very swollen. We didn’t know what caused it, so I helped her into the car and drove her back to town to an urgent care center.
At the urgent care center, they didn’t even let us inside to see the doctor. When I asked for a wheelchair, a nurse came out, took one look at my daughter’s knee, and immediately sent us to the Emergency Room at a large children’s hospital, saying she would call ahead to let them know we were coming.
The next day, after surgery to remove 54 cc’s of fluid from my daughter’s knee joint, the surgeon still couldn’t figure out what caused the swelling. He thought it might be an infection, but it wasn’t. There was no inflammation either. So, he referred us to a pediatric rheumatologist, but that doctor also couldn’t find the cause. And that’s how our long journey began.
Over the next six months, the pain spread from my daughter’s knee to her other knee and one ankle. The pain continued to spread through her body.
By the time Claire-Lynne was 14, she was living with constant pain in her major joints: toes, ankles, knees, hips, fingers, wrists, elbows, shoulders, spine, back, and neck. On a pain scale from 1 to 10, with 10 being unbearable, her average pain level was 7 every day.
I took her to specialist after specialist. They ran many expensive tests, but no one could figure out what was wrong.
I didn’t know it at the time, but doctors are taught a principle: “When you hear hooves, think horses, not zebras.” It makes sense because most of the time, the cause of the problem is simple. But sometimes, zebras do exist. My daughter was a zebra.
I took Claire-Lynne to eight different specialists in two countries, but none of them could diagnose her. It was frustrating and costly, but I refused to give up. One day, while reading online, I came across a rare, incurable connective tissue disorder. The more I read about it, the more I realized this was exactly what my daughter had. I was sure of it. The specialists had missed it because they were too focused on the obvious causes.
Finally, I knew which specialist to take her to. In September 2018, when Claire-Lynne was 17, seven years after her symptoms started, a geneticist in the U.S. confirmed what I had figured out: Claire-Lynne had Ehlers-Danlos Syndrome. When the doctor confirmed it, my daughter burst out laughing with relief. We had finally found the answer. It wasn’t all in her head. There was a real reason for her pain, and now we had a name for it.
The most amazing thing I’ve ever done? Not giving up after seven years of searching for answers. I kept looking until I had enough information to figure out what was causing my daughter’s pain.
I had read stories where people or their families couldn’t get a diagnosis, and I never thought I’d be in that situation. But if you or someone you love is sick and the doctors can’t figure out why, don’t give up. The answer is out there. Keep searching. Eventually, you’ll find it.
Here’s a picture of my daughter (in the red dress) with her sisters, one month after we finally got the diagnosis.