Melanie Gorrell

My husband, Jason, and I met in college, and were married in 1995. We were very excited to start a family, but it took us a while longer than most of our friends. We were thrilled to discover that, finally, our prayers had been answered! It was very special for me to know that one of my dear friends would also be having a child so that we could have this adventure together. My pregnancy was uneventful, thankfully, and we had no reason to be concerned about the health of our baby.

I will never forget the day I received the call from my friend’s mother. I thought this was the call telling me that her baby was here. I was anxiously waiting to run out and buy a gift so I could get to the hospital and hold that baby. There would be no such trip. There were complications. The baby did not survive and my friend was very sick. For me, this changed everything.

Evan was born May 5th, 2000. The only thing I remember thinking as he was born is how lucky I was that he was here. I didn’t care how many toes he had or how long he was. He was alive and I was a mother.

Evan was an adorable, healthy boy. He was a very typical baby and an awesome sleeper! We had no complaints. Then we began to notice the droopy eyelids at about 6 months. We were referred to an eye surgeon to repair his ptosis and we thought that would be the end of it. He ordered an MRI of Evan’s head and genetic testing prior to surgery. Again, we weren’t too concerned. I got another phone call I will never forget. It was our family doctor. There was a mass between Evan’s eyes. For those 48 hours, I tried to imagine the unthinkable and how I would deal with it.

Once everything was sorted out and the results were in, we met with our doctor to get details. Good news & bad news. The mass turned out to be a mistake by the radiologist, but Evan had a rare genetic condition called Chromosome 18p deletion. “So, he’ll live?” I was so relieved. Again, he was alive and I was his mother.

We met with a team of geneticists at the children’s hospital, and they had very little information for us. The only thing I remember taking from our appointment is that Evan would most likely never walk or talk. They showed us pictures from a 1960’s textbook of what 18p- looked like. Jason and I quickly dismissed this idea and decided to take matters into our own hands. We got online and found the Chromosome 18 Registry and Research Society. We used the list of characteristics to determine what health issues we needed to be concerned with and what types of therapies would be appropriate, and got started right away.

We actually didn’t become Registry members for 3 years. I think I was so busy “managing” Evan’s therapies and doctor appointments that it never occurred to me that there was this huge resource out there that I wasn’t taking advantage of. I finally sent in my dues, joined the 18p- listserv, and life has never been the same. I now have friends all over the world who understand exactly what I’m going through and have experienced the same issues with their kids. We’ve been to several conferences and have made lifelong friends. The support and encouragement generated from the Chromosome 18 Registry & Research Society is tremendous!

Evan is a happy, healthy boy. He runs and plays, and he talks your ear off. He is in a typical classroom, makes the A/B honor roll, reads constantly, and is an incredible speller. Evan also rides horses and plays basketball in our church league. And he’s an awesome big brother to Melia. We have been very proud of him and all of his hard work to overcome the obstacles he has had to face. We want stories like Evan’s to be the ones the geneticists share with parents when presented with an 18p- diagnosis.