Eli was born in March of 2009. He was a happy baby and a fantastic eater! He met all normal milestones up until about 12-18 months. He began taking steps at 10 months, but was pretty wobbly. He didn't get proficient at walking as quickly as our daughter had, but we just thought it was because he was so top heavy! At 12 months he began making sounds and approximating some words. At 18 months, he was approximating words, but couldn't make the ending sounds of the words. At age 2, he really hadn't progressed much since 18 months. We began to be a little concerned, he was behind in speech and we wondered if his hearing was compromised.
Soon after his 2nd birthday, one of his eyes began to cross inward, suddenly and severely. We got him in to see a neurologist and ophthalmologist pretty quickly, because we were concerned about the sudden nature of it. We wondered if he had a brain tumor or something! An MRI of the brain found delayed myelination. The myelin, or white matter of the brain, hadn't fully developed for his age, which, to them, was a pretty common diagnosis. It concerned us, but the neurologist said the next year or two would tell us a lot. She said, some kids will surprise you and catch up with others their age, and some will have a much slower progression of learning. She said that whatever pattern you see over these next few years, will probably be the pattern of learning that will continue.
So we focused on therapy, did some genetic screenings (which didn't produce much) and took care of his eyes. He had to get three eye surgeries over the next year and a half to try and straighten them out. At almost 3, we found out he had kyphosis of the spine, which is a curvature from front to back. The doctor told us he should wear a back brace 23 hours a day, with just one hour of rest. If we didn't, he said it could get worse in the future. So for the next 9+ months, he wore a solid body brace around his torso all the time! It wasn't fun for him. And as he got older, his balance progressively worsened. The back brace made it even harder for him to walk, so he fell down a lot! We began to have to deal with stitches and head injuries from his falls. I followed him around a lot, trying to prevent him from hurting himself.
From 3-5 years of age, he didn't progress any further and began to regress. His balance got worse, his ability to focus with his eyes and mind regressed, he began to pause more while processing and lost almost all of the words he had learned.
At age 5, he underwent another Brain and Spinal MRI which showed no further Myelin development and flattened vertebrae of the spine. Our neurologist referred us to some doctors in Phoenix, through which we received the diagnosis for Eli and his younger brother, Evan. Eli is 6 years old now, as of March 31, 2015. He is spitting up at least once a day, he cannot walk any more on his own, and spends a lot of time in his wheelchair. He can walk with his walker, but needs help. He is having a harder time eating certain foods, and is beginning to reject foods that he used to love. He is coughing and gagging periodically, so we thicken his drinks. He can be sad and frustrated sometimes, but he still manages to smile at everyone! He laughs and loves to bounce around on the trampoline. He is our sweet boy and we love to take care of him.
Eli is almost 7 now and has had a feeding tube for the last 6 months. His spitting up and coughing worsened and we went in for a swallow study. He was aspirating thickened liquids, so we went ahead with the surgery. He now has a G-tube and is doing well on it. He can eat small amounts of foods that dissolve easily by mouth. He can't handle anything that is too thin or too hard, no liquids, and he needs to be fed very slowly. Luckily he has had no seizures up to this point!