I am the proud wife and mother of two – Kymberley, 6 years and Mikey, 22 months old. Kym has been a healthy child, overall; Mikey has not. When Mikey was 10 months old, I started to notice that his development wasn’t where it should be. I can’t count the different doctors, pediatricians and specialists that we had been to. I did finally find a doctor who was willing to listen to my concerns with Mikey. He, too, had noticed that there were delays. I then got involved with the Birth to Three Program, which has been wonderful. That is how we got Mikey started with therapy (he couldn’t sit up or hold his bottle by himself.)
Because of his eating habits, the doctor had referred us to a speech pathologist who evaluated Mikey. After the evaluation she talked with our doctor and confirmed his suspicion. I knew my son was delayed, but never in a million years was I ready for what the doctor was about to tell me. The doctor said “I think Mikey may have Cerebral Palsy.” I cried. We then got referred to a neurologist.
On our first visit to neurology another bomb was dropped. He said that Mikey didn’t have Cerebral Palsy. We were back to square one again, not knowing what was wrong. The neurologist suspected Autism. He had given us some information, but didn’t want to give us too much information until we knew for sure. I cried again out of frustration for Mikey. Our second visit consisted of all the testing (I can’t remember them all). This was hard because we still knew nothing and I was scared, not only for me, but more for Mikey.
It had been a few weeks and we were waiting for the test results. The phone rang–it was a genetic counselor. She had results of the tests. We learned that Mikey has Fragile X syndrome. I can remember feeling lost and relieved all at once. I was in shock. I cried. The counselor explained what Fragile X was and its cause. She sent me some information and gave me some websites to check out. She made me and my son feel important.
We then had a consultation with the genetic counselor, Theresa, and she explained Fragile X in “English.” She gave us so much information and answered all of our questions. She was great! She included my daughter in the conversations and suggested that eventually we might want to get her tested, too. We have to remember that Kym is affected by Mikey’s diagnosis, and Theresa did.
We set up an appointment with a geneticist, Dr. Wargowski and his staff. I was impressed and overwhelmed by how helpful and observant everyone was. I don’t think there was anything that they didn’t check. They had also included Kym and examined her, too. We had made the decision that we would get her tested. This is when I finally got to meet Sumedha, the second genetic counselor. I had talked to Sumedha many times on the phone and she made me feel like I was the best mom in the world. She encouraged me, listened to me and guided me in several situations. The first thing she did was give me a big hug. She knew that I was overwhelmed by everything going on in the last month.
I was nervous about Kym and her results. I was scared that I was going to get that call again. We got the call from Sumedha and to my surprise it was negative! Sumedha was almost as excited as I was. We actually got to share a moment of joy.
I can’t put into words what the whole “genetic department” has done for my family. My family went through a lot of emotions, and they were the ones that supported us. I appreciate them and their hard work. Thanks to Sumedha and Theresa I am learning all I need to know about Fragile X and my son.