Ethan was born in December 2006 with a yet undiagnosed CMD. After a relatively smooth pregnancy and delivery, Ethan was placed into the NICU for four days after he was born. He was initially diagnosed with hypotonia, myopathy and bilateral cataracts. His initial CPK level was very high which did resolve after doctors tested it a second time. Because of his floppiness, he was on a portable apnea machine for precautionary measures for the first four months of his life. Ethan had a type of “reverse-torticollis”, where his muscles on one side of his neck were loose and therefore his head was turned to one side. Of course, breast-feeding was hard due to his low-tone and weak suck. Although he seemed to take to the bottle better, feedings still took a longer time for the first four months. His bi-lateral cataracts were removed at 3 and 4 weeks, respectively. Ethan now wears soft contacts following trials of wearing hard contacts and repeatedly losing them when he learned at 1 ½ years how to remove them! At around the age of five Ethan will have permanent implants and may need corrective glasses or contacts later depending upon his needs.
The first six months for us were extremely stressful due to the number of doctors’ visits, therapy appointments, procedures and surgeries. We tried to go together to these appointments so two sets of ears could hear. Sometimes it’s hard to process all that is being said to you. We found that we had little time to do anything else as we were focused on trying to find out what was wrong.
During this time, Ethan had multiple MRI’s, a CT scan with contrast, an EKG, sonograms, x-rays and three eye surgeries. It was also a time where we were weeding through doctors to find the right fit. It was especially galling to find one neurologist say to us, when Ethan was five months old, that we didn’t need to come back anymore because he was fine!
When Ethan was one year old he had an EMG and a muscle biopsy. The EMG was done first. The results confirmed a myopathy and the next step was a muscle biopsy. Based on the biopsy, the doctors have given him a probable diagnosis of Congenital Muscular Dystrophy. The results of the biopsy showed congenital fiber-type disproportion and a glycosylation defect involving alpha-dystroglycan. These, however are “non-specific” findings and therefore a final diagnosis is unknown. Testing, including gene sequencing, is still being done to identify the genetic mutation and confirm a diagnosis of CMD.
The one thing that is a constant stressor for both my husband and me is the number of doctor’s appointments we still find ourselves going to. I think now that things have calmed down a bit we find ourselves with time to think about all the “what ifs” in terms of Ethan’s future. We are happy, however, that daily therapy with wonderful therapists and a great team of doctors has enabled Ethan to repeatedly surprise everyone. My husband and I have used some of his therapists as our mental and emotional therapists!
Despite his weakness, he began crawling on all fours two days after his 2nd birthday (he began commando crawling at 16 months.) He began pulling himself to stand right after his 2nd birthday and he loves crawling up the stairs! He also started taking steps independently while holding onto a mini grocery cart or a wagon.
Ethan continues to struggle with feeding and speech. He struggles in trying to eat more textured foods as well as learning to feed himself. Although he eats a variety of foods he is sensitive to texture and has to eat his food mushy (or thoroughly cooked) and sometimes served with pureed baby foods. We are hoping that with continued aggressive speech therapy, which will also work on oral motor skills, Ethan will improve both feeding and communication.
Ethan is a very happy and outgoing child. Having been through so much, he is extremely flexible with schedules and very patient. My husband and I always laugh at the way Ethan lets the ophthalmologist and optometrist poke and prod his eyes without getting upset! He loves to “read”, listen to music, play the piano (just like his dad!) and go hiking (in a pack) with his parents. And although we are uncertain whether or not CMD has affected Ethan cognitively, the doctors are very optimistic and seem to feel the future holds no limits.