Aiden was born on April 28th, 2024. He came out as just a little guy (6 pounds), completely healthy, and loved his naps. As our first child, and completely exhausted, Mama and I nervously loaded him into the car seat and tiptoed home on almost no sleep. The first few months were a blur. Aiden was quickly spoiled with every toy, blanket, and gadget we (as new parents) thought he needed.
Around month 4 Aiden got the Coronavirus, and that was our first introduction to life in the hospital. At this point, he was approaching 15 pounds and nearly the height of his grandmother. Aiden was well above the 90th percentile on all his growth charts, he loved to laugh and play with anything that rattled, and most of all he loved his bath times.
Coronavirus was tough. That first IV, the first poke, trusting the doctors with your little one, we weren’t ready for our little Stinker Man to be so sick. After a week or so we were finally able to bring Aiden home. He wasn’t 100% back to himself, but he was on the better side of the virus.
A few months later, Aiden is mostly back to his old self. Mama and Dad are finally gathering the courage to start introducing new foods. Around month 6 to 7 we started noticing Aiden wasn’t meeting many milestones. He could roll from back to belly but not belly to back. He could get part way through a push up and then tired quickly. Aiden didn’t get to a point of strong neck and head control, nor could he ever sit well. I will touch again on this in another post, but Early Intervention is important. We started the process of getting him into Speech and Physical therapies. By month 10, we started getting concerned due to Aiden not wanting to eat foods and his muscle tone didn’t seem to be developing. In our minds we just chalked it up to Aiden being Aiden and he would get to it on his own time. We briefly struggled through the NORA virus. Mama, Aiden, and I thought it would be a great idea to all get this one at the same time. The house was in recovery for three days, but this one didn’t require a hospital visit thank goodness.
Fast forward to a couple months before his first birthday. Up until now we didn’t have any suspicions of his condition. We were diligently working with Early Intervention trying to get him stronger and to be more receptive to foods. Aiden was still playing well, he was trying his best to start “scooting”, but we felt something just wasn’t letting his brain connect to his legs well. He would fully extend his arms and legs and try to get going, but never really got the grasp of it. We could put him onto his knees and hold him up and he knew the next steps. He just wasn’t able to put all the pieces together. Then… we all got Flu B. Another week of IV’s, pokes, prods, and us asking all the things that were concerning us. We made it home, but Aiden seemed to be getting weaker and weaker. We weren’t sure if this was due to the cocktail of sicknesses he had gone through, or if something else was going on.
Shortly after Aiden’s first birthday, we had to take him to the emergency department because he hadn’t been taking a bottle for several days. He was diagnosed with failure to thrive and admitted for IV fluids and further testing. This led to Aiden getting a nasogastric (NG) tube, as he was burning more calories struggling to eat than he was able to consume. After a few days, his condition worsened, and he needed a gastrostomy (G) tube placed directly into his stomach.
During this time, we were fortunate that the attending physician specialized in pediatric neurological conditions. He noticed symptoms indicative of several possible diseases and initiated a series of tests. A full rapid genetic panel was performed. Aiden also exhibited a cherry red spot in his eye, subtle nystagmus, and clonus in his left foot. As we awaited results, we received the distressing news that the signs suggested a serious diagnosis.
The genetic testing revealed no abnormalities in Aiden, Mama, or me, which surprised the medical team as they had expected otherwise. We returned home for a few days to wait for the enzyme test results. The enzyme analysis was completed and confirmed that Aiden had Sandhoff Disease. We were devastated. The following day, Aiden experienced his first seizure, sending us back to the hospital once again.