My daughter was born in February of 2003, nine years after her older brother. I had been told for years that I would not be able to have more children, but I refused to give up. Three years later, my beautiful daughter was born. She was born 4 weeks early due to my development of gestational hypertension, but she weighed almost 6 pounds and she was a perfectly healthy newborn, and we left the hospital 2 days later.
At four weeks old, she spiked a 103 fever late on a Saturday night. I called the pediatrician’s service and was told to take her to the E.R. So began one of the worst nights of my life; after blood tests, urine tests, a chest x-ray and a spinal tap on my tiny infant, she was hospitalized for pneumonia for 2 days. We repeated this scenario at age two and again at age three and four; she was hospitalized for pneumonia four times in four years.
At this point I knew something was not right and she was tested for immunodeficiency and cystic fibrosis. She was also referred to a nutritionist for failure to thrive; she was in the lowest 10% on her growth curve and had not gained weight in a year, although she had gotten taller and was above average otherwise developmentally.
Her tests came back normal. She was then referred to a pulmonologist and was diagnosed with asthma and prescribed daily breathing treatments with a nebulizer and an inhaler. I thought we had found the problem but she continued to get sick frequently and severely. A tiny cold would turn into a full-blown respiratory infection and ultimately pneumonia if she wasn’t treated with antibiotics immediately. “She has a virus” would lead to hospitalization within a few days every time, and even when treated, she would be sick in bed for a week or longer.
She was then seen by an ENT specialist who put tubes in her ears in 2007. This helped with the ear infections, but didn’t stop the frequency of them. I remember thinking that it was silly to keep putting her through all of these tests because they would never find anything and I was tired of putting her through all of this for nothing. I knew that she got sick easily, so I did everything I could to keep her healthy and away from germs. The winters were horrible and she was sick almost every other week, but we muddled through. I utilized FMLA leave with my employer to cover myself for needing to miss work when she needed to go to the doctor or stay home from school.
She started Kindergarten in September of 2008 and immediately loved it. Her first report card was wonderful; she was above average in all areas. There was a small note at the bottom from her P.E. teacher stating that she was doing fine in gym class, but she seemed to hold her feet funny when she ran and she tripped often; he was worried that she might get hurt and asked if I would agree to the school physical therapist evaluating her. I was certain that it would be another dead-end but I agreed to the evaluation.
In May of her kindergarten year, the physical therapist and the principal of my daughter’s school called me together to go over her findings. I was alarmed that she had the principal on the line with her and listened carefully as she explained that my daughter had severe proximal muscle weakness, in-toeing, and scapular winging. Big words, but as a medical professional, I knew exactly what she was saying. She noted that my daughter’s neck flails back like that of newborn baby and that her knees and toes turned in when she walks and often trips over her own feet. She noted that she was unable to do many basic exercises, such as sitting up from a lying position without rolling to one side and using her arms for leverage to get upright. The physical Therapist and principal both expressed that they did not want to alarm me but that as parents, they wanted me to know that there may be a neurological problem and that she should see a pediatric neurologist for further evaluation of her muscle weakness.
She saw Dr. Collins on August 4th. After a thorough examination, he told me that he thought that she had congenital muscular dystrophy with rigid spine syndrome. I immediately went numb as he told me they would need to do labs for CPK and genetic markers as well as a muscle biopsy, which was scheduled for a week later. When we walked out of the exam room, I looked around at all the children in the waiting room in wheelchairs and other assistive devices. I knew I could not fall apart in front of my daughter and all I could think was “this morning my daughter was fine; and now she might have muscular dystrophy”.
The muscle biopsy was done 10 days later; the experience was frightening and painful for all of us. While I waited for the results to come back on both the biopsy and the genetic testing, I did a lot of research on CMD with Rigid Spine Syndrome. I began to realize this could explain everything we had been through; the frequent infections, hospitalizations, pneumonias, failure to thrive, the poor muscle control….I began to notice things about my daughter that I could not believe that I didn’t notice before. It all made sense. Part of me wanted it to be confirmed, just so we would know what we were facing and how best to treat it; the other part of me knew that it would be very hard to learn that my baby girl had a genetic disease with no known cure that would challenge her every single day for the rest of her life.
When Dr. Collins called on September 6, 2009, I already suspected in my heart what he would tell me: both the muscle biopsy and genetic testing confirmed SEPN1, Congenital Muscular Dystrophy with Rigid Spine Syndrome. Her father and I were both carriers but had not known that we carried this rare genetic mutation; an autosomal recessive trait, together we passed it on to our daughter.
The next several months were spent trying to determine the extent of her disease process. She saw her pulmonologist and began treatments with a cough assist machine in addition to her daily nebulizer treatments. She saw a cardiologist who ordered an echocardiogram; thankfully, it came back normal. She began physical and occupational therapy and had an overnight sleep study. The sleep study showed that she has shallow breathing during the night due to a weak diaphragm with abnormal carbon dioxide levels. Carbon dioxide levels build up in the blood at night and cause her to be more tired during the day. The higher levels contribute to a decrease in her appetite and in her ability to concentrate at school. A bipap machine was ordered to help her breathe at night while sleeping.
We have only been using the bipap machine for a couple of weeks at this point and we are still getting used to it, but she does notice a difference in the way she feels with the bipap. Her energy level and appetite have increased and she even says that her muscles hurt less.
Two weeks ago, for the first time ever, she was able to fight off a cold on her own- she never developed a fever or needed to see her doctor for an antibiotic. She was sick for a week, but she fought it off on her own. It was an incredible feeling; for the first time in her life I feel like we are doing all the right things to improve her quality of life and to keep her as healthy as possible.
We take it one day at a time. It isn’t easy to explain to a 6 year-old what all of this means, but she is a very smart girl and she does understand. She has her bad days, as do I, but I have chosen to educate myself to best help my daughter and she has decided that this won’t slow her down in the least. It is what it is. We are blessed in spite of- and maybe even because of- CMD entering our lives.