Eli lives in Arizona and is the son of Brad & Marilee Leishman
Diagnosis – Sept. 2014 GM1 Gangliosidosis Type 2 (Late Infantile/Juvenile)
Death – May 5th, 2020
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! (He was quite a chubby little guy!) 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 bit 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. 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. 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 deal with stitches and head injuries from his falls. I (Mom) 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. It also showed 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.
At this time, (May 2017) Eli is 8 years old. He has lost the ability to eat foods by mouth, talk, walk and sit on his own. His ability to maintain eye contact and grasp and focus on objects has dramatically decreased. At age 6, he had surgery to put in a feeding tube and has progressed to the point of having increased risk of choking episodes due to reflux/drooling and inability to swallow and cough effectively. He has also begun to have issues with breathing effectively and periodically needs breathing treatments to help clear and calm his airways.
Although, GM1 has taken much of Eli’s ability to express himself and most of his physical capabilities, it hasn’t dampened his spirits. His laugh, smile and connection to his family is still very much alive and well. He is cherished each day by his family, siblings, school staff, friends, church and medical community. Eli is a special, sweet angel of a boy who makes everything around him brighter and those who know him….better.