The End of Hope

Last week we had a physiotherapist come to our house from the CCAC. Our Occupational Therapist thought it would be a good idea to add physiotherapy because Piper is not making very good progress at this time. Honestly she just turned 9 months old and she still can’t really hold her head up and she definitely can’t do much else. So in addition to the Osteopath, MEDEK physiotherapist and Occupational therapist we’ve added this government funded Physiotherapist.

The girl who came was very friendly and showed me an exercise that I should be doing with Piper. Compared to the MEDEK Physiotherapy it’s very passive. I place Piper sitting on my lap leaning against my stomach and move from side to side. It’s very simple but I really don’t see the immediate benefits.

What was disturbing about the visit was the conversation we had during it. She asked me if I’d filled out some papers to get funding under the “Children With Severe Disabilities” act. I had the papers but never filled them out because a) its 20 pages long and is very labour intensive b) it’s income dependent and I’m not thinking that we would fall into the range to get the funding and c) I haven’t categorized Piper as having a SEVERE disability.

I asked her why I would need this and she explained that Piper should have a different stroller. I told her that Pipers stroller was fine and she said the stroller may help her until she needs a stander. A stander? What the heck is that? She wrote down the name of the stroller and I said I would look at it.

Once she left I looked up the stroller and it looks like a wheelchair. I lost it. Getting a special stroller for Piper will just acknowledge the fact that there is something wrong with my child. It will make people look at her more than they already do. Why would I do that to her, to me? I looked up a stander and then cried. I put a picture of it on the page so you can see the stroller and the contraption called a stander. Is this what Pipers life will be like? Would she ever walk? Will she be 20 and me still having to carry her around? The not knowing is killing me. It makes me want to pull out my hair in frustration!!!

I asked the pediatrician last week about the stroller and the stander and whether she thought that she needed them. Her answer was that she doesn’t know what Piper will need, nobody does. If I don’t feel that she needs the stroller then I don’t have to get it, but I may need to cross that bridge when I get there.

When Piper was 2 weeks old I thought “she’ll be better by 3 months”. When she was 3 months I thought “she’ll be better by 5 months. When Piper turned 5 months old the only thing that kept me going was the thought that by 9 months she would be holding her head up. When the milestones all came and she still couldn’t hold her head up I lost faith. I am at the end of my leash when it comes to hope. I don’t know if I can do it anymore. I have spent the last 9 months hoping and working and worrying for this precious child. What am I supposed to do? This is something that consumes me 24/7. This isn’t something that will get better with time or go away for a few minutes. Where do I go from here? How can I go back to work in a few months with a child who I worry about all the time? Things and priorities are different. I can hardly function at home, what about at the office?

We have a neurology appointment on August 2nd. Although I wait with bated breath for the visit I know in my heart that there will be no answers on August 2nd. This will not end for our family. We will never know what Piper will be like or what to expect from day to day. That false acceptance is laden with a small amount of hope that remains when every 23rd of the month arrives. As it arrives the hope gets smaller and smaller. What happens when there is no hope left?

Genetically Speaking

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.