Ben was diagnosed with ECHS1d when he was 2 years old. Up until 15 months, he was hitting all of his milestones but we noticed that occasionally he had a weird gait while walking and he would fall frequently. We were told that he was within normal limits for his age and to follow up in 3-6 months.
Around his second birthday we noticed his eyes would shake back and forth (nystagmus). It was worse on one side so it was recommended for him to have a brain MRI to rule out a brain tumor. Luckily there was no tumor but where we are now is just as scary.
Findings from the MRI led us to genetics and this diagnosis. He is losing his vision and some days does not have the strength to walk. There are so many unknowns with this diagnosis.
We are scared every time he gets sick that he will lose his skills or go completely blind. We are hopeful that there will be a cure soon.