Shared by his mom Patty.
Isaiah has been a great warrior since before he was born! He clung to life through a very risky pregnancy and was born at 32 weeks weighing just 3lbs 14 oz. Isaiah spent his first 40 days in the NICU. He always reached his developmental milestones a little later than normal, but his pediatrician assured us it was because of his premature birth.
Isaiah is our third son so when he was about 6 months old, I could see things weren’t the same as with his older brothers. He was frequently vomiting and when he began to walk, he fell a lot hitting his head. In May 2020, after Isaiah was sick for a few days, he had a short seizure where he stood motionless looking at Asia above with a blank stare. I got scared and took him to the emergency room where they told us the seizure was completely normal with a fever. As we were waiting for our discharge papers, Isaiah had another episode while the Dr. was present, so she decided that we needed to see a neurologist. Isaish had an MRI and they determined he had bacterial meningitis. He was treated with antibiotics and steroids for his 7-day hospital stay. We repeated the MRI in September and then were referred to the children’s hospital of St. Louis for genetic testing. We were told that Isaiah has a white matter disease in his brain. Because it was during the pandemic, our Dr. visits were virtual consultations. They gave us a kit to test Isaiah’s saliva. While we were waiting for the results, his seizures became more frequent and increasingly worse, lasting a minute or two up to more than an hour. He had 5 seizures between November 2020 and December 2021. Three times, he was taken to the hospital by ambulance.
I had a feeling that things were getting worse when the diagnosis of Alexander Disease was made on December 7, 2021, more than a year after we began genetic testing. We had never even heard of Alexander Disease. It was heartbreaking as we listened to the doctors explain what AxD is and the medical consequences of this disease. The most terrifying thing is that there is no cure or treatment.
Today, at almost 5 years old, Isaiah continues to show progress in his motor development. He walks well, eats, and sleeps well and is learning to live without a diaper. He loves watching cartoons with his older brothers Joshua and Matthew. Bluey, Cocomelon and Blippi are his favorite TV characters, and his favorite color is blue. Isaiah goes to pre-k where they offer him language therapy, occupational therapy, and physical therapy. Most people do not understand his language but we in the family have learned to understand him. He likes to be in action like going for a walk in the park or shopping at the mall. Just like other 5-year-olds, Chuck E. Cheese is one of his favorite places!
His energy is not always the best and viruses attack him much more easily, so we try to take care of him much more so that he does not get sick. He has been free of seizures for more than a year thanks to God and the medications. His daily medications are Keppra and Depakote. The vomiting and poor appetite and seizures have been the most aggressive symptoms of the disease so far.
The expectation of Alexander Disease is cruel and terrifying, but we have a lot of faith in God, mainly, and in the doctors who are currently working to find a treatment and possibly a cure for this disease. We are grateful! And thank you very much to End Alexander Disease who long before my son was born, were already doing everything possible to get to where we are today with promising advances.