All genetic testing we did for Jay during pregnancy came back normal (though we did the bare minimum). When he was born, he struggled to breathe and was diagnosed with Transient Tachypnea of the Newborn (TTN), a temporary breathing issue that resolved on its own within a few days. He was seemingly healthy otherwise.

At two months old, after a trip to the ER, we found out that Jay had an inguinal hernia. These are relatively common for boys, so we didn’t think much of it. He had surgery to repair this at 2 months old. For the next few months, everything was normal aside from his constant congestion and cough, which doctors weren’t concerned about since that can be normal for some babies.

At 6 months, he got his first tummy bug and was miserable. After that, he kept getting sick back to back to back. When he started daycare in August, it was even worse. When he would get sick, he was very sick—105 fevers and always vomiting, even with just a simple cold. I haven’t heard other Hunter Syndrome families talk about this being a symptom for their child, but it was for Jay. His peers would recover in 1-2 days from sicknesses that would have him out of school for a week.

Then, he started getting recurrent ear infections. After his fourth ear infection in 3 months, he got surgery to get ear tubes and has been doing better since.

At one of his appointments, we noticed his head was growing at a faster rate than most kids and was 99th percentile. When he was born, it was only 6th percentile and grew rapidly in those first 9 months. Our doctor ordered a head ultrasound to check for hydrocephalus, which came back clear, thankfully.

Around this time, I started to get a nagging feeling that something wasn’t right. Jay had had too many random medical issues for me to be comfortable with, and it was concerning to me how strongly his body reacted to even minor sickness. At one of his appointments after his one year visit, I asked if we could run some bloodwork to see if anything showed up. They tested for Celiac and did some other tests, including liver enzymes, CBC, etc. He was negative for Celiac, but his bloodwork came back with several things off. From there, we were referred to GI, genetics, and hematology.

Both hematology and GI didn’t find anything concerning, but the GI doctor mentioned that he was concerned about something called Hunter Syndrome and to ask the Geneticist about it (we already had an appointment with genetics the next week). Not knowing what that was, I went to the parking lot and when I googled it, my heart sank. Many of the early symptoms were things Jay had experienced. Seeing the word “terminal” on my phone in that parking lot is a feeling I will never forget. I called my sister, who heard my concerns and cried with me as we processed how this could be something he had.

The next week, we visited the Geneticist, who ran a urine test (and later blood test) that confirmed our worst nightmare: Jay had neuronopathic, or severe, Hunter Syndrome. We were also told that Avlayah had JUST been approved by the FDA. We thank God for this timing.

For months, I had told his pediatricians that something seemed off to me and that I felt like there was an underlying issue. I will FOREVER be grateful to the doctors who listened to my concerns and referred me to genetics, because most boys don’t get a diagnosis until later when there is more damage. From the outside, Jay looked like a normal toddler, but I really felt strongly that something was not right. I tried to convince myself that maybe I was just an anxious first-time mom, but I just wasn’t at peace with how sick Jay constantly was.

Because his pediatrician and I advocated for Jay, he has a better chance at life due to starting treatment sooner. I have a whole new appreciation for caring doctors and those in the medical field— there is truly no greater gift than people caring for your child. While this diagnosis has been the absolute worst thing we could go through, we are filled with hope because of Avlayah and the many people who fought for it. Jay has been on Avlayah for 4 months and is gaining skills every day. We can’t wait to see what is next for Hunter Syndrome, and we will not stop until there is a cure for these brave boys. Onward and upward!