Early in 2004 we found out we were expecting our fourth child. We already had 2 girls, and a little boy who had been born with lower limb deficiencies. We had a good genetic counsellor, who explained to us that we had a very small chance that our new baby would have the same disability, but just to be sure, offered us an in-depth ultrasound if we waited until 16 weeks gestation. We happily accepted, and during the exam were relieved to count ten fingers and ten toes – so relieved, in fact, that we couldn’t believe when the technician explained that she would have to get the doctor on duty since there seemed to be something wrong with our baby’s feet.
It turns out that our little girl (as we would later find out from amniocentesis) had clubfeet. It was explained to us that this was not a big deal, that many people were born with clubfeet and had them corrected successfully. The more important thing was that our baby was not moving very much. This was the first moment we discovered something was terribly wrong.
Throughout the pregnancy, there were many, many ultrasounds, and many more possible explanations as to why our daughter wasn’t moving very much. The lowest point was when the doctors couldn’t find her stomach bubble and explained that if she couldn’t swallow, she most likely wouldn’t be able to breathe and that there was nothing they could do to save her in that case. They wanted to know if we would sign a form allowing them to perform an autopsy on her after she was born. We both broke down after the appointment, hardly believing what we had heard.
There were 2 periods of around 14 hrs each when I couldn’t feel Emma-Lynn move at all, resulting in panicked visits to the doctor. Having had 3 children already, I knew this was not a typical pregnancy in any way.
Emma-Lynn was born Sept 2004 by c-section and was in the NICU for 2 weeks due to a broken femur and wet lung. There were many tests to try to determine what was wrong with her, and until the doctors ruled out brittle bone disease, we weren’t allowed to pick her up or touch her much. It was a very difficult time, but in the end we were assured by doctors that Emma had arthrogryposis (a condition that fused her joints) and that she would get better once we started to move the joints through casting and stretching.
Serial (continuous) casting went on for about 4 months when I began to notice that the nurses and doctor in the casting room weren’t looking at us anymore. I finally called Emma’s occupational therapist and asked her why the positive talk about Emma had stopped and she told me that it was the general consensus that arthrogryposis was not Emma’s primary problem. They were loosening her joints, but her muscles were not starting to work. There was an appointment for us with a neurologist.
We had hoped for some news, but we weren’t prepared for what we were told. The neurologist was straight and to the point, if lacking greatly in a bed-side manner. In her 25 years in practice, she had seen 2 children as week as Emma, and they had both passed away. There wasn’t a lot of point, in her opinion, in finding out the root cause of the weakness. We would just have to accept that someday, perhaps sooner rather than later, Emma would get sick and not recover.
We were stunned, of course, and after the shock had passed, decided that we did indeed want to have a diagnosis for our daughter. We packed up and moved to a different province with a renowned hospital employing a world-recognized authority on neuromuscular diseases. Through a muscle biopsy, he determined that Emma-Lynn has congenital muscular dystrophy, merosin positive. That means that she has merosin in her muscles, but she is missing something else, something there is no test for yet.
Emma is a beautiful, bright, independent 4-yr-old girl with a ton of personality. Recently, she drew a picture with her mouth, using a gel pen for a close family friend. She entitled it, “I do it myself”, which sums up how Emma-Lynn lives her life. She can’t stand and can’t walk. She can’t raise her arms and has very little movement in her wrists or hands, where her arthrogryposis is most evident. She does have rather strong core muscles, and ‘scoots’ around on the floor on her bottom and sits independently. She just received her first powerchair, makes use of a stander, and a ponywalker on very smooth floors.
We know she has some awareness of her disability, as she recently expressed worry about how the kids in preschool would respond to her wheelchair. As parents, we struggle with how best to buffer her from disappointment and yet still expose her to all the wonders this world has to offer. There has been a lot of grief, and as we know there is no cure for her as yet and that the odds are this is a terminal condition, the grief never fully dissipates.
As our family now says, we have a new kind of normal. Because of that, we celebrate the small victories and try to manage life with this condition as best as possible.