Ashley was our first wonderful child. My pregnancy was considered “normal” and my husband and I often would imagine what it would be like to play basketball with our child, teach her how to ride a bike, and do all the fun kid activities. At Christmas during my pregnancy, I remember thinking how we would have a little baby crawling around next year at this time. We would have to leave the bottom of the Christmas tree without ornaments, so baby couldn’t tug at them!
When Ashley was born, the labor and delivery was quick, but everything went well. Ashley passed all newborn tests in the hospital and we took home a beautiful healthy girl. At 2 months of age, my mom noticed Ashley was only turning her head to the right—she never turned to the left. We made an appointment with our pediatrician, who then referred us to a physical therapist, where she was seen for torticollis. Torticollis is a condition in which the muscles in one side of the neck can be stiff, and the head is thus inclined to turn to one side. We were told this was probably the result of Ashley being in one “favorite” position most of the time in utero. We were told to schedule 5 visits with the PT, where we would be taught various neck stretches to do with Ashley to loosen her neck muscle. She showed improvement right away, as we did the neck stretches at home, and we figured we would stop the PT after the 5 visits, and she would be fine.
At our 5th visit, we were told by our PT to schedule more weekly appointments for the next few months. I was confused, and wondered why she still needed to attend PT. We were told Ashley had some weakness in her upper arms, so they wanted to continue working with her. We believed, at that time, this was linked to her torticollis, so we scheduled out and kept going to PT.
At 5 months of age, Ashley was not able to lift her head or arms up, when on her belly. At 6 months of age, Ashley and I enrolled in a “mommy and baby” class, where there were other kids there around the same age. It was at that point, I began to worry. At 7 months of age, I was seeing other kids sitting independently, bearing weight on their legs, and even crawling. I was even surprised to see other kids bringing their hands up to their mouths to chew toys. While Ashley could sit up independently for short periods of time, she was far from being able to do any of these other things. One of the little girls in the class was a month older than Ashley, and when I saw her pull herself up to a standing position when grabbing on to a chair, I felt sick to my stomach, knowing that there was something wrong.
One day after class, I came home sobbing, knowing something was not right. I talked to my husband and we agreed to take Ashley in for some testing. If nothing was wrong, at least I would be reassured, but if something was wrong, we had to do something about it. Our pediatrician at first dismissed it as simple “babies develop at different times.” When we pushed, she then helped us get in to see an orthopaedic specialist and then a neurologist.
The orthopaedic specialist examined Ashley, asked a lot of questions, did some X-rays, but didn’t see any areas of concern. He suggested it was wise, however, to see a neurologist to be safe. We went home that night thinking Ashley was probably fine, and felt like we could breathe a sigh of relief.
The very next day, we saw a neurologist. She also examined, asked questions, and wanted to do a blood test for SMA (spinal muscular atrophy). We had never heard of SMA, and when we asked her what it was, we were told quite abruptly that we didn’t need to know right then and we should wait and discuss it after the results came back. While I stayed at the clinic while several different nurses struggled to find a vein in Ashley’s little body, my husband drove home. He looked up SMA on the internet and found an abundance of information. Although we now know there are many different types of SMA, at the time we feared the worst. We didn’t know if Ashley would live to be 2! When I came home, my husband had been crying and told me if this was SMA, “this is not good at all.” That night everything—our entire lives—changed. I remember rocking Ashley to bed that night and humming the song You Are My Sunshine. I started crying when I came to the words “please don’t take my Sunshine away” as I suddenly realized we had no control over this situation but to pray.
The test for SMA came back negative several weeks later. While we were so relieved, we still had the mystery of what was going on with Ashley. The neurologist with the poor bedside manner we initially saw encouraged us to get a EMG. Upon describing that process to us, we decided to get a 2nd opinion from another neurologist, preferably someone who could relate better to worried parents. We then saw another neurologist, who was much more caring, willing to help us figure this out, and a very good listener. After having Ashley undergo an MRI and having the white matter come back abnormal, he suggested we do a muscle biopsy.
At 9 months of age, Ashley underwent the muscle biopsy. I still remember her playing with the doctor’s stethoscope as they carried her off into the operating area, while my husband and I had to stay back and wait. After the procedure, she was actually in very good spirits, and other than a nasty black and blue area with stitches, you’d hardly know what she had just gone through.
It was early December when the biopsy took place. We were told by the doctor that we should have the results back in about a week. After a week passed and we heard nothing, we started calling the doctor’s office and asking for the results. After 2 weeks of not hearing, my husband made a few more “direct” phone calls. Finally, 2 days before Ashley’s first Christmas, we were given the diagnosis of Merosin-Deficient Congenital Muscular Dystrophy. We were given the diagnosis over the phone, and told to make an appointment to be seen in 3 months. My husband and I had to insist on the doctor seeing us in person sooner than that, to discuss this diagnosis, what it meant, etc. We were appalled that they thought they could just give us this info over the phone and assume we would just get on with our normal lives.
At that time, we were just getting set up with the Early Intervention System (name for the school district’s program where we live and their Birth to 3 year program). An Occupational Therapist (OT) and a PT began coming to our home once a week to do therapy with Ashley. They were very supportive and a wealth of information as far as resources and many other things. Most importantly, they taught us that we, as parents, are the strongest advocates for our children. Both of them had experience working with another child with the same diagnosis before, so that definitely made us feel better as well.
Our PT, Paula, was the first person to actually tell me there would be a wheelchair in Ashley’s future. When she left that day, I sobbed for hours, holding and rocking Ashley in my arms. I kept asking out loud “Why? Why did this have to happen?!?”
Our family was introduced to a whole new world of special equipment, therapies, exercises, stretches, and doctors. Ashley was fitted for AFO’s which she wore throughout the night. She was fitted in a stander. We underwent weekly therapy (PT and OT), and began water therapy when she was 15 months old. In the water, Ashley does not have to fight gravity, so she is able to do some walking in the pool, whereas she cannot on land. She goes to water therapy one day per week, and it has been a blessing for us. She learned to walk in the water in the shallow end, to ride a noodle like a horse and balance herself, to scoot on her bottom down the ramp of the pool, and she can hold her breath underwater longer than her mother or father!
When Ashley turned 2, the staff at Shriner’s Hospital was able to modify a Kettler tricycle so she could pedal it. She has a gait trainer. We also use KAFO’s and have used knee immobilizers in the past.
When Ashley turned 3, she became very aware of her inability to walk. On her 3rd birthday, we drove to a restaurant. As we started getting out of the car, my husband and I were talking quietly, or so I thought. He said he would just carry her in, while I suggested we bring the wheelchair in case she needed to use the bathroom (I was not able to carry her and get her pants down anymore because she was quite heavy). She heard us talking, and said “Guys, I need my wheelchair cuz I can’t walk.” My husband and I looked at each other in disbelief, as we realized she was aware of her situation. A few months later, she would routinely ask “Why can’t I walk” or “Why can my little sister stand, but I can’t?” My husband and I both jog and occasionally enter some races. Ashley will sometimes say “I wish I could run.” It makes my heart hurt.
Ashley is potty-trained. Last year, she attended pre-school two days per week, and was completely mainstreamed. She has a person at school who helps take her and lift her onto the potty at school when she needs to go (called a paraprofessional). She also has a PT and OT at school who regularly check in on her, to see if she needs any equipment or seating modified to make it easier for her to learn. For example, Ashley struggles using a scissors due to her limited hand strength, so she uses a modified scissors, where she can press her entire arm down to cut. Ashley used a manual wheelchair in pre-school last year. She will use her power wheelchair this coming school year.
Ashley loves the Disney princesses, painting, coloring, doing sidewalk chalk, playing with her little sister, helping me bake cookies, swimming, swinging (she has an adapted chair which we use on our swingset) and absolutely loves music. Ashley was a very early talker, and was saying 4-word sentences at 18 months of age. Her vocabulary is quite impressive today, and she is very good with her manners.
Recently, Ashley has been using her power wheelchair and has, for the first time, been able to be independent. She absolutely loves it!! While at a recent family reunion, Ashley was beeming from ear to ear, as she said to her cousins, “Do you want to chase me? Do you want to chase me?” This was her first opportunity to actually chase others by herself!
Today, Ashley can articulate her muscular dystrophy to others. If someone asks why she is in a wheelchair, she very confidently tells them, “Well, I have mussulr disproty (it’s hard to pronounce for a 4 year old) and I can’t walk so I use this wheelchair to get around!” She is very proud of her wheelchair, because we want her to take pride in what she can do.
As a mother, I ask you to please help support funding research to help find a treatment for my daughter, and other people afflicted with CMD.