The Message That Helped Me Find Help for My Son With Ehlers-Danlos Syndrome


I’ll never forget how distraught I felt leaving that disappointing doctor’s appointment. Many of us have probably had those appointments you want to run away from, but this one nearly broke me.

I had been searching for over two years for the cause of my 7-year-old son’s terrible pain, going specialty to specialty, place to place. We ran test after test. He was so sick and in so much pain.

Now, after all this time, I finally know what was causing his symptoms. It was like I took a page out of the Ehlers-Danlos syndrome (EDS) symptom manual, and at the top was the picture of my son. I had walked into this appointment with my heart completely full of hope, and I walked out feeling I had none left at all. I needed a diagnosis, but I didn’t get one. The hospital we had waited months to be accepted for doesn’t diagnose EDS. I was at a loss. EDS had been mentioned by several doctors, but we left empty-handed.

I cried the entire hour and half drive home. I cried until I couldn’t breathe. I was mad and sad, disappointed, and most of all exhausted. My emotions felt like a heavy, wet carpet draped over me. I almost never let myself get so upset. It wasn’t my finest moment.

When I got home, I pulled myself together the best I could and sat down at my computer. I wrote something on a large Ehlers-Danlos support group on Facebook, reaching out to anyone who would listen. Honestly, I expected the usual vague response. It was basically an attempt to keep my remaining sanity by talking to anyone who would listen. I felt like I was screaming for help, silently.

Unexpectedly, a lady from the group of over 20,000 people messaged me, asking me where I was located. Low-and-behold, we live in the same state. It was a welcomed surprise. She told me her story about her son who also has EDS and how she was also at a point of breaking when someone reached out to her. She happened to be a support group admin for the metro area within our home state. It was a comfort to hear from another mother who knew what I was going through, fighting for my son.

In a group of thousands of people, this lovely woman heard something from that post that made her stop and reach out to me. What she did next changed our lives. She added me to the amazing local support group and welcomed us with open arms. She also gave me a geneticist’s contact information that specializes in EDS. Everything moved quickly after that. The geneticist gave us an appointment (in that same year), diagnosed my son clinically, and confirmed that diagnosis with whole exome sequencing.

If she hadn’t reached out to me, I don’t know what would’ve happened. I felt like giving up. I felt the world was against us, and I had nowhere to turn. She changed our lives with one private message, which only took a few minutes out of her day. Not only are treatments and preventative measures more readily available for my son now that he is diagnosed properly, but any doubts about him having EDS were squelched with a genetic golden ticket. Best of all, I gained a lifetime friendship. She and I have become the best of friends. We share our journeys with each other daily, and she has inspired me to reach out and help others just as she helped me.

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Thinkstock photo by KristinaJovanovic

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