The Many Faces of MITO

We tried zantac and that didn't help so I brought him back and they put him on prevacid which was our miracle drug for a long time before that didn't work and we finally switched to prilosec. The reflux was just the beginning of our journey. I noticed that Noah wasn't doing a lot of other things kids his age could do, like hold his head up roll over get on hands and knees. Also he started having blue episodes where he would turn blue, skin, lips, tongue, finger nails. My twin sister had been recently diagnosed with MITO so it was suggested that I bring Noah to get evaluated by Dr. Adams. Noah had a genetic blood panel drawn and about a month later they called me and asked me to come into the office.

They sat me down and broke the horrible news that Noah has mitochondrial disease to me. Noah was diagnosed with a mutation that has never been seen before so we don't know what his prognosis will be... I was very upset to say the least. By this point Noah's developmental delay had become quite significant, so Dr. Adams suggested we take Noah to the developmental peds. doctor, doctor Malone in Latham. At eight and a half months he was evaluated and found to be mostly on a 6 month level as far as gross motor, fine motor, etc. The blue episodes were very frequent and we were spending a lot of time in hospitals. He was having a blue episode almost every other week. While these episodes scared the heck out of me we have finally come to determine that they are as a result of autonomic dysfunction because he can't regulate his oxygen and breathing muscles etc. At around the time Noah was evaluated by the county, they came in and provided us with physical and speech therapies. Noah had a lot of problems just holding his head up, and sitting up he also had huge problems swallowing and manipulating food. As he grew older there were more problems with walking, talking, muscle tone etc. Today we have speech therapy, physical therapy, and a special ed teacher that come in twice a week to work with him, Noah has come a very long way. At 22 months he is running around, eating most foods, climbing stairs with help, and starting to talk. He doesn't have many words but he is getting there. He also still has gross and fine motor issues as well as muscle weakness and fatigue, But considering everything Noah has come a very long way. I am very grateful for the little things like, saying mama, or baby (his doll) and he just started saying Amy for his aunt. He is very active and doing things most toddlers his age do, he just gets tired very easily. Our journey has been long and hard, but worth every minute, I love to watch him overcome milestones even the smallest things are huge to me. Noah's middle name Nathaniel in Hebrew means gift from god, and Noah is truly my gift from God.