My interest in congenital myopathies began three and a half years after my first child was born. Clay had appeared to be a healthy baby boy when he was born on August 26, 1992. He had been born by caesarian section because he was a nine pound 12 ounce breech presentation, with a head circumference of 15.25 inches. A big, healthy boy. The doctor speculated that his size was the reason I had only felt nudges and bumps rather than the kicks and flips most expectant mothers do--he didn't have enough room for all of that!
For about the first year, Clay's development seemed fairly normal. He held his head up at about six weeks, rolled over somewhere around three months, and sat unassisted at six months. He began babbling right on schedule and said his first words just before his first birthday. His pediatrician mentioned a couple of times that his muscle tone seemed a little low, but since he was meeting all these early milestones on time or a little early, she wasn't concerned. Then he was late to crawl. Since he had been breech, the pediatrician sent him for an x-ray to check for hip dysplasia. So up we went to The Children's Hospital of Alabama for the hip x-ray. It showed nothing wrong, the pediatrician said not to worry, some kids just crawled late. Clay began crawling on his first birthday.
In November 1993 Clay had his 15 month check-up. When I told our pediatrician that he wasn't walking yet she was immediately concerned, although she did say it wasn't a major worry--yet. He was still in the "normal" range for walking, but given his late crawling and his continuing low muscle tone, she wanted us to call the office if he wasn't walking by the new year. So for the next two months, Mark and I nervously waited for Clay to start walking. He didn't. He would stand up while holding on to furniture, he would take steps holding our hands, but he would not walk alone. I called the office on the first day they opened after the New Year's holiday. The doctor referred us to a neurologist and we had an appointment for February. I thought I would never make it that long, and couldn't believe they couldn't see us before then. It was my first introduction to the wonderful world of referrals.
February came, and Clay still wasn't walking. We went to the neurologist appointment, and the doctor spent a total of ten minutes with us. He felt Clay's legs through his pants and said his tone was fine, then set him down and, unbelievably, Clay walked alone across the floor to me. The neuro laughed, and said Clay was fine. He said some kids were just very cautious and wouldn't try anything until they knew they could do it, and Clay was one of those kids. He said Clay would never be a daredevil, but that he was fine and to stop worrying. He sent a report to our pediatrician, who then said she was going to stop worrying about him. She did recommend we put him in a mother's day out or preschool program where he could be around other kids and maybe that would help his gross motor skills. Our sitter, Brenda, had been caring for him since he was a baby, and we arranged for her to take him to a mother's day out once a week. Brenda had been worrying through all of this with us. By March, when he was 19 months old, he was walking alone consistently. And so, for about another year and a half, we carried on. When the teacher of his two-year-old class in the mother's day out mentioned that his gross motor skills were behind, and that he didn't seem to talk much, we brushed it off. We knew he could talk very well--according to the pediatrician he had an advanced vocabulary--so it was easy to ignore her other concern. We told her that the neurologist had told us he was a cautious child, and that there was nothing to worry about.
Our daughter Britton was born the June before Clay's third birthday. I noticed that her movements in utero were much stronger than his had been. It wasn't really that she was more active, just that I felt kicks and flips this time, rather than the nudges and bumps I had felt with Clay. She was also a big baby and felt more solid than Clay had as an infant. Even though he had never really been a typical floppy baby, I could now see what the pediatrician meant about his low muscle tone. I often wonder how things would have been different if he had not been my first child. After my maternity leave, Britton went to stay with Brenda, and Clay started full-time preschool. When we saw him with the other children in preschool, it became clear that there was still something going on. I had little nagging suspicions earlier that something was not quite right, but the daily comparisons made it very obvious.
With this new evidence of his delays, we began our serious search for answers. Our pediatrician referred us to a physical therapist for an assessment of his delays. He had this testing at 39-40 months. His fine motor was on target, but he tested at the 18 to 22 month level in gross motor. He couldn't run, jump, or alternate feet on stairs. He had to hold on to something to climb stairs. He couldn't hop or skip, and his balance was poor. He was more delayed than we or the pediatrician had thought. We had been told he was OK, now here was incontrovertible evidence that he wasn't. Based on the results of this assessment, we were referred to another neurologist, this one at Children's Hospital, a professor of pediatric neurology at The University of Alabama at Birmingham Medical School. The referral took place in December, our appointment was the first of February. Another wonderful wait.
This neurologist's appointment was much more thorough. She gave him a complete physical examination, watched him walk and try to run, and tested the strength of different muscle groups. She also got a comprehensive medical history and a full report from both the physical therapist and our pediatrician. The first test she ran was the CK enzyme test to check for muscular dystrophy. I could tell she thought there was a good chance this was the problem. They took the blood for the test and said the results would be ready in about an hour and a half. We tried to eat lunch, but I don't think I've ever lived through a longer hour and a half in my life. When we got back to her office, she took us right in and told us with a huge smile that Clay's CK was normal, and that ruled out the dystrophies. She said it would appear that he had either a neuropathy or a myopathy, and she recommended that he have the NCV test and an EMG to determine which. She told us that while both of these types of disorders did cause limitations, we were likely looking at something non-progressive or only slowly progressive. She explained the tests, told us that he could be sedated, and we agreed to them. She set them up for about two weeks later, and again we went home to wait, although, fortunately, this time, not for too long.
The time since the physical therapy assessment had probably been the worst we had been through. I was constantly beating myself up over what we had and hadn't done for him. I watched Britt constantly to see if she showed the slightest sign of weakness. I felt so alone. I don't think I can ever explain the anxiety and fear of that time to anyone who hasn't been through something like this. Something was wrong with my child and there wasn't anything we could do about it. There was no one for us to talk to--some people thought we were overreacting, since Clay looked "normal", others just didn't want to hear about it. Things like this make others very uncomfortable. Mark and I both felt very isolated. We just had to get through the days as best we could.
The two weeks passed and we went up to UAB Hospital. The only thing I didn't like about the administration of the tests were the medical students in the room. The doctor had explained that the disorders were so rare that the students might never get another chance to see the procedure so we had agreed to their presence. The doctors were very good about just having them there to watch the tests, then getting them out before we talked, but in retrospect I wish they hadn't been there. We started with the NCV. It was uncomfortable for Clay as the little bursts of electricity went through his nerves, but not painful. As soon as they had enough information to determine his nerves were normal, they ended that one. The EMG was next. They put needles in his muscles and shot electrical current through them to test the muscles. Clay was sedated, but he started crying during this test and I had to hold him. I was trying hard not to cry, because I didn't want to scare him, but I couldn't believe I was doing this to my son. I think Mark and I were both ready to stop the test when the doctor did. Clay whimpered a little, then drifted off to sleep. Fortunately, I don't think he remembered the test when he woke up.
The neurologist told us that based on the normal NCV and the "somewhat myopathic" changes on the EMG, she believed he had a congenital myopathy. We would not know for sure or specifically which one without a muscle biopsy. She said that it would not change his prognosis or treatment to know the specifics, so we decided not to have one at that time. She said we could request one at any time if we changed our minds. She believed he would improve with time, and live a full, active life. She sent us some material on myopathies, and I began my research.
For about a year after Clay's diagnosis, we didn't find out too much more. I think we were just trying to get back to a normal life. Then I got on the internet. For the first time I was able to communicate with other people who had myopathies or were raising children with myopathies. They steered me to information they had located, and I learned to locate my own information. Finally I didn't feel so alone. Here were people who had been through the same types of things we had. Here were people who understood. Here was information about what the future might hold for my son. Our neurologist is very good about answering all our questions and sending us any information we might need, but the more sources the better. And nothing is better than actually communicating with others. At times I still feel very alone in this, and probably always will, but the overwhelming sense of isolation has lessened.
We currently see the neurologist once a year, just on a follow-up basis. We have still not had the muscle biopsy, but she is certain he has a myopathy, and based on her observations and his pattern of development she thinks it is most likely Central Core Disease. He will probably have a biopsy some day, but I think it will be when he is old enough to have some input in the decision. He has come a long way since his diagnosis. He started jumping at age 4, he can alternate feet on stairs and doesn't need to hold on (age 5.5), he can hop and skip (age 6.5) and he runs much better--we have even seen a "normal" looking run a few times. He learned to ride a two-wheeler when he was 7. To look at him now, you would never know anything was going on with him. He sometimes looks a little uncoordinated, but that's about it. He has played soccer and baseball for the YMCA, taken swimming lessons and swims well. He took karate lessons for two years and this was great for his balance and coordination. He receives no special accommodations in school. Many children with myopathies can't do some of these things, so we feel very fortunate Clay is doing as well as he is.His neurologist feels he will continue to improve through childhood and this will not be an issue for him as an adult. I hope she is right, but we know the other possibilities for the future and if she isn't we will deal with it. The myopathies vary in severity and both she and the pediatrician have characterized his case as "very mild." We are so fortunate. He will always have limitations, but we all do in different ways. His just happen to be in his muscles. Hopefully one day there will be a treatment or cure for these conditions, but until then we will just help him develop the strength and character to work through these and any other challenges which come his way.