Meet Eli
shared by Eli’s mom, Jill
Eli was our long awaited second baby. After 6 years of trying Eli came into our world. I had an easy breezy pregnancy. He was a great baby. His smile and big bright blue eyes were pure joy. Just like the other AxD patients, Eli started to not reach general milestones. By 9 months he was still not yet sitting unassisted, by a year not crawling. Our pediatrician gave us the same advice as the rest, that he was just later on the spectrum but was still meeting them in his own time. When Eli was 18 months old our whole world changed. He had a major seizure. I had never seen a seizure before and it rocked me. That first weekend he ended up having 3 more and we found ourselves at Seattle Children's hospital. Within the three days we were there, Eli underwent an MRI, EKG, and genetic testing which showed he had Alexander Disease.
The room was dark and quiet when the doctors came in to tell us what they found. They told us they had very little knowledge on this specific disease but that there was very little life expectancy, so go home and love Eli well. This news tore up our hearts and our whole world. We couldn't breathe, let alone live life normally. The very moment the doctors walked out, we hit our knees and prayed to God. We thanked God for entrusting us with this sweet boy and gave Eli back to him. This news was too much for us to carry alone. We truly believe in the goodness of the Lord. We have faith that he will use this diagnosis for good and we trust his direction.
Through facebook and the internet we connected with Dr. Amy Waldman. Her team at CHOP advised us to come to Philidelpia to be a part of the human history study being conducted there. She was a breath of fresh air and the hope we needed. She reassured us with her extensive knowledge and we knew we were in good hands with her on our team.
Now four years in, we feel like we have processed this diagnosis and have a clear medical plan in place. On average Eli gives us a big scare about once a year. This last one happened in March and we left the hospital with a long road to recovery. He had to relearn everything from how to hold his head up, sit, eat, and walk. Sadly, his speech has still not come back. We treat Eli with daily seizure meds and he uses ASOs to help with his walking. Eli started Kindergarten in the fall and now receives all his therapies: PT, OT, and Speech through the school district.
With everything he has gone through and being nonverbal he faces everyday with joy and does his very best to make sure you know what he wants. If that's not God's grace and mercy I'm not sure what is. We are so very proud to be his parents. We pray he can triumph over this disease and do his part in the future of this disease.