Genetic Testing is testing my patience

If your child has complex health issues then genetic testing has probably been at least offered to you by your child's doctors.

Genetic testing can take weeks or months. If they are screening for a potential diagnosis it can feel like the sword of Damocles is hanging over your head. When Thomas was only five days old we were told by his retinal specialist that he could have a disease called Norrie Disease. Norrie was suspected due to Thomas' microcephaly, severe retinal detachments, and the fact that this had happen to both his eyes.

This is how little Tom was when he got tested for Norrie in Nov, 2009

When we went to see Dr. Capone in Detroit for the second surgery in November of 2009, they tested him for Norrie but he told us he did not think that Thomas had the disease. While the testing was being done we just waited and researched the disease. All the information I found was so daunting and depressing. Personally, I just couldn't let myself believe that Thomas had Norrie.

Every visit we had to Detroit involved someone looking at Tom's chart and casually saying, "Oh, Norrie." This would cause us to get upset and wonder if they knew something we did not? We would say, "No, they are testing for Norrie!" Then we would ask and the doctors would reassure us they have not gotten the results back yet. This went on for months and was incredibly upsetting.

Finally, at our last visit Dr. Capone was able to tell us that the genetic testing had come back negative for Norrie! It was such a relief to finally know after eight months.


At the advice of the pediatrician who oversees Thomas' care we took him to see a geneticist for more in depth genetic testing in January 2011. Thomas and my husband and I met in person with a geneticist and a genetic counselor. They examined Thomas and took full medical histories of our families. When they asked me about Thomas' toes  (2nd and third toes are a little webbed together) I explained that mine look exactly the same way so they made me take off my socks and shoes to show them! I was relieved when they said it means less because I share this too. So I felt that they had been pretty thorough in their exam.

By June of 2011, we had not been contacted by Genetics again so Thomas' pediatrician asked them to give me an update. The genetic counselor called me and calmly told me they are testing Thomas for Walker-Warburg Syndrome. She said that four of six sequences had come back normal but this is really what they thought he had. I only remembered that I had seen this disease in my research but I didn't remember any of the specifics. She seemed so casual that I didn't really think much of it and she hung up.

Naturally I went to the computer and googled Walker Warburg Syndrome. And this is what I see It is the most severe form of congenital muscular dystrophy with most children dying before the age of three years. 

Getting ready to walk, Spring 2011

Are you kidding me? Who calls a parent and tells them their child probably has a disease that is fatal in early childhood. I called Tom's pediatrician but she was gone for the day so I left an urgent message with her staff.

All I could do was try to stay calm until I heard from his pediatrician. I spent the whole night researching the disease online and comparing what I was reading about to Thomas. Some things fit but more things did not fit.

I spent the night in agony wondering if it could be true. Could Tom have muscular dystrophy? No one had ever uttered those words to us and we had seen so many doctors. I wanted so badly to think it was wrong but there was a seed of doubt. Why would these genetic experts suggest this if they didn't have reason to?

Early the next afternoon, I got a call from Thomas' pediatrician and she apologized for this information being relayed over the phone. She also said that she did not think that Thomas had this disease as I described it to her. She did not think he had any type of muscular dystrophy. If he had a disease that is usually fatal by age three he would have been deteriorating already and he is doing the opposite. He is starting to walk and gaining skills. It was just what I needed to hear.

Even though I felt in my heart that Thomas didn't have this disease I couldn't relax until his pediatrician talked to me. She also had the genetic counselor call me. She apologized and I asked her why they thought he had this disease? She mentioned his contractures. I did not know what a contracture was? She explained that when the muscles are so tight the hand is immobilized and often curled up. I was shocked.

Thomas does not have contractures. He has full range of motion in his arms and hands. He can do itsy bitsy spider and that spider goes all the way up the water spout!!! He was born with hypertone, yes, but he has full range of motion now and is starting to walk. She said well we will have to look at other things then.

Obviously, genetics didn't know about his DJ skills.

Overall, I have to say she didn't sound that sorry for scaring me to death needlessly and I really don't know how she came away from the exam in January 2011, with the idea that Thomas had contractures. I feel like they found a disease that involved the eyes, brain and muscles and just decided it had to fit.

Thomas' pediatrician said that there may be no name for Thomas' symptoms. He may be the only one who has this. I really feel the same way now. I think that this is just how Thomas is and that he is going to be OK. His life will be different but that doesn't mean it won't be good.

This was truly a horrible experience but it is an excellent reminder that you are the only expert on your child. Doctors are essential to Thomas' care but they don't know everything and they can be wrong.