Daniel and MLD

Daniel was a late crawler and a later walker. At 18 months, he took his first independent steps. He was unsteady and had one foot turned in. We've always been the parents who have tried to not worry about things that didn't need to be worried about. For me, I worried that I would put too much pressure on my children. We didn't contact a doctor about the walking but at the urging of family, had him evaluated by the infant and toddlers program. They said he had hyptonia or low muscle tone.

At Daniel's two-year appointment, he was still walking unsteadily but his gait had improved. Our pediatrician though was worried. She referred us to a neurologist. Two months after he turned two, Daniel was diagnosed with Charcot-Marie-Tooth disease (CMT), a progressive peripheral nerve disease that does not affect life expectancy. We were told that Daniel may never run, but that he would be able to go to college and live a full life.

Daniel's walking became worse and worse. By January, when he was 28 months-old, he needed a walker. My husband Dan was convinced it was not CMT. I could not find anything else it could be and our doctor was focused on this diagnosis. I looked for solutions to improve his walking. More PT, different braces, a new walker....nothing helped. Daniel just got worse.

At the end of April, I noticed that Daniel couldn't sit up on the floor. He had balance issues before but this seemed something new. CMT caused weakness in the hands and feet, not the trunk. I panicked. It was a Sunday so I called our doctor's emergency line. He said to come in the next day.

For the first time, we heard the work leukodystrophy.


No comments:

Post a Comment