As I mentioned in an earlier post, when Piper was just a few days old she had a multitude of tests done on her. A major category of tests was genetics. Hypotonia is a symptom of almost every genetic disorder that affects humans. All the way from the most common, such as Down Syndrome to the rare, such as Spinal Muscular Atrophy (SMA).
I’ve definitely learned a lot about genetic disorders and most of them I hadn’t heard of before. When a doctor would tell me that they were going to test for a disorder or syndrome I would sneak out of the ICU and Google it. I would then call my husband in tears over the possibility of our daughter having one of these syndromes. He would subsequently get upset and it would be a big mess. Then after waiting for a couple of weeks I’d sit in front of the doctor for the results. Was she smiling? Did she look nervous? Why does she keep talking? JUST LET ME KNOW THE RESULTS!
So thankfully all the tests performed at St. Michaels were okay. No need to worry about the “common” genetic disorders. Now we get a referral to the Department of Metabolic Genetics at The Hospital for Sick Children. Now we get into the serious and “rare” genetic disorders.
Our appointment was at the beginning of May and it was quite the experience. I don’t know how a parent could walk out of a genetics appointment feeling good because they measure, look and criticize your child's features the whole time. Detailed questions are asked about yourself, your family and their offspring. We were even asked the obvious “Is it possible that your guys are related? You aren’t brother and sister are you?” Ummmmmm, NO! I think I would know if he was my brother and maybe we would have mentioned that BEFORE the genetics appointment? Gross!
When they looked at Piper the doctor and the student were vocalizing their concerns with her features. They mentioned that perhaps her ears were lower than normal a slight bit. They asked why she was so pale and whether it runs in the family. If anyone knows me they know I’m pale, very pale. It’s quite a touchy subject with me and not only has Piper inherited my skin tone but my son has as well. Lastly they looked at her eyes and then mine, then my husbands, then back at Pipers. He mentioned that her eyes kind of went up at the corners then continued to talk. After about ten minutes he all of a sudden looks back at me and says, “No, I think she has Mums eyes”. If you look at a baby picture of me and look at Piper they are exact.
That whole procedure was exhausting and nerve-wracking! They really didn’t find any dimorphic features that would indicate a specific genetic disorder. This was a relief. The doctor told me that he was going to test for a couple of rare disorders and started to tell me which ones. I stopped him and told him that first of all we didn’t want to know what he was testing for. I knew that Bay and I would just go home and Google every one of them and worry ourselves. Second, I told him that ideally I didn’t want to come back if it wasn’t necessary. I wanted him to test for every possible genetic disorder he thought Piper may have.
We were sent to ambulatory services where they took five large viles of blood from my thirteen pound baby! It was horrible to see but they were taking so much because I signed a waiver to allow them to bank Pipers DNA. This way she would only have her blood taken once and we could test over and over.
It was almost two months later and I hadn’t heard anything about the results. I started calling genetics and left two messages. This brings us to today. I finally received a call back from the doctor and the results are back. Everything is negative (normal) that they can see with her microarray. Microarray is where they look on each one of Pipers chromosomes and make sure all the little pieces are there and that they aren’t damaged. She was also tested for Spinal Muscular Atrophy (SMA) and Myotonic Dystrophy (a form of muscular dystrophy) and they were both negative. So all we have left is to go back to genetics and see what our next steps are.
If this is genetic what are our chances of ever finding out what the cause is for Pipers hypotonia? Well, there are an estimated 20,000 to 35,000 human genomes but there are suspected to be thousands more that we don’t know of due to technology constraints. Within each of those human genomes contains vast regions of DNA, the function of which, if any, remains unknown. In fact this “unknown” region is estimated to be about 97% of the human genome size.
So you can see that if it is a genetic disorder it may never be found in Piper. This is what doctors tend to refer to as Benign Congenital Hypotonia. It’s encouraging and discouraging at the same time. There is hope left in the unknown that she will just outgrow this one day and break down barriers. But there is also a sense of uncertainty because there isn't a basis how our little girl will progress through life. We’ll have to wait and see until the next appointment.