Editor’s Note: This story was originally written by Anne Denneen, and shared on Caring Bridge.
So many things happen in life that you don’t even register them at the time. You drive to school or work, you say hello to people, you get your hair cut, you go grocery shopping, and you really don’t remember the specifics of that encounter even a few hours later. Well, I remember the last time I went to the DMV (for those living elsewhere, the Department of Motor Vehicles). I had to get my drivers license renewed and needed a new picture. No big deal and nothing memorable, right? Wrong. The woman working the counter seemed to have a great disdain for me for some reason and wasn’t happy with the way I was standing for the picture. She kept telling me to back up into the wall. More and more and more. Obliging as I am, I did what she said. Memorable? No, not really. Until my picture came in the mail six weeks later, and I realized that was the time she gave me five extra chins making me back my head into the wall. Well, I thought, hardly anyone looks at my license and then in a few years I’ll renew it and get a new picture.
THE day that was actually memorable at the time it happened and forever afterwards: February 6th, 2013. One of the hardest days of my life. Even though I knew, I didn’t really know until Liam’s diagnosis was stated and explained that day. The geneticist who told us Liam has Hunter syndrome also told us there was nothing we could do. There was no cure, so take him home and enjoy him while you can. Liam was two years old. Everything else was just a blur and echoes in my ears. No cure, no cure, no cure. Regression. Death in teens. No cure. Take him home.
We did what we had to do. We took him home. But nothing we can do? No, that was unacceptable to us. We did everything we could, hoping one day there would be something more, a cure, a better treatment. Our journey took us through transplant, a year of hell, and then years of joy watching Liam participate fully in life. We did enjoy him and loved watching his happiness in all the little things he loved. We tried to bury the diagnosis, the echoes of no cure, regression, death. But it was there. I knew it was there the whole time. I just couldn’t go there. I still can’t go there.
Even now, as we are here, mid-teens, regression….I find myself unwilling, maybe unable, to see what is in front of me. After transplant, all the doors to other treatments closed. Everything else, and there was not a lot, was in trial and not open to individuals who had gone through transplant. So we did what we could, we just lived, hoping one day there would be something more, approved, available. We watched as trials ended and potential drugs were scrapped. FDA denied, denied, denied. Still no cure, still regression.
March 25th, 2026. I was at the gym on the elliptical. Usually I would not remember this, but my phone started blowing up. I answered Darcy first. Did you hear, she asked. No, what happened? FDA approved. Approved?? A treatment? Now? After all these years, something to treat his brain, to stop the regression, and now FDA approved. An enzyme replacement to finally cross the blood brain barrier and help neurological symptoms of Hunter syndrome. I called Liam’s geneticist right away and told them we are all in. As with everything in life, we then got another dose of reality.
The drug is only approved for pediatric use. Immediately that excludes many patients with Hunter syndrome who have been waiting for this day. And once again, I was on the phone. What does pediatric mean? Whose definition of pediatric do we go by? Insurance? Hospitals? Legal? Nothing was clear that day. So we submitted paperwork and waited.
As it turns out, pediatric use in this case is for patients up until they turn 17. Liam is 16. So we are on the clock here. He has to receive at least one dose of this new drug before the day he turns 17. Once he is on it, he can then continue it beyond age 16. We have been scrambling since that day in March. Talking to genetics, talking to the drug company, talking to Children’s Healthcare of Atlanta, the hospital where Liam would have the weekly infusions. And going in circles again and again. We were told the hospital needed the drug to be put on formulary first and that process would take time. In the end, that was not necessary because he would be outpatient. That pointless process took months. Then we were told insurance would take time. Then we were told we needed bloodwork and another appointment before submitting to insurance. We were in Hilton Head this summer, drove home to Atlanta for the appointment the next day, and drove back to Hilton Head within 24 hours. We were supposed to start infusions at the end of July. We came back from Hilton Head and were told by insurance that they only just received a request for prior authorization a few days ago. So, more waiting. A few weeks later, we were told, no, insurance doesn’t need prior authorization. So all this time, since March, we were waiting for the hospital and then insurance, and neither of them needed anything apparently. Finally, we had a date for the first infusion last Thursday. We completed all the paperwork, we worked out a plan with school and excusals, we packed for a day at the hospital, we woke Liam up early and sat in Atlanta traffic for an hour to get to the hospital, where we then waited in the room for an hour. The nurse came in and told us, sorry, the drug is not here. Pharmacy was not aware of the paperwork for the distributor. Another week gone, and the clock is ticking.
I was driving to pick up Liam from school today and a call labeled potential spam was ringing. I saw it was a 785 number and recognized the hospital. The drug is there, we are on for tomorrow.
Hopefully Liam will start this drug, Avlayah, tomorrow (August 13th). Hopefully he will not have adverse reactions to it that have prevented some of his Hunter syndrome brothers from continuing. Hopefully this can stop the regression. Still no cure, but an approved treatment? We have to try.
I have packed everything up again for our day at the hospital tomorrow. Luckily we have been there before! We even got permanent hospital badges last week when we went for nothing. The security guard was very excited to tell me they are “permanent” as opposed to the temporary ones you just throw away. This one is great because it has your picture on it too. Your drivers license picture. You know, the awful five chin one I thought would go away once I get it renewed? Now it’s my permanent pass for Liam’s lifetime weekly treatment. I can’t wait to go back to the DMV to see that woman next time. Boy, do I have a story for her.
