We found out today. Special Access has been approved!!!!!! I am so glad it only took 2 days. I’ll start from the beginning.
This morning we saw Trey’s ENT, Dr. Moxham. He checked Trey’s tubes, which are apparently doing great. He saw clear through them (no fluid plugging them up, causing them to not work) and they are still flush against Trey’s ear drum, which means that they have not yet started to come out. Great. Dr. Moxham was also very happy with Trey’s audiology test from late December. Not only did Trey test very well (he concentrated for a long time and did everything Dreena asked, giving clear results… kids his age don’t often have a lot of understanding of or patience for testing), which is awesome in and of itself (gives me confidence with the whole brain involvement thing), but the fact that he tested well means that he doesn’t need another ABR (sedated hearing test) for the time being, and his test showed that his hearing is basically at the same point as it was for his ABR last summer (no progression of hearing loss!).
Then home for a nap. Then back to the hospital to see Dr. Stockler. First we talked about a ridge on Trey’s head which we first noticed back in August and has continued to grow since then. We had x-rays done in December, which showed that Trey has saggital craniosynostosis. Basically, one of the sutures on his head has fused prematurely. Usually, sutures stay open while the brain is growing, so that the brain doesn’t get squished. If the sutures close prematurely, it can cause pressure in the brain to build up. This is likely not the situation with Trey, as only a small portion of one of his sutures has fused, and both the surrounding sutures and his fontanel are still open. She has referred us to a neurosurgeon, however, to confirm this.
Dr. Stockler also expressed how well she thinks Trey is doing. How well his speech is developing, how coordinated he is, how well he continues to grow. She even commented that his hair is much softer than other children she has met who have MPS. As a parent who thinks about her child’s development every minute of every day, this is great to hear.
And then we talked about ERT. Now that SAP is approved, the conversation is between the Ministry and Shire to figure out how much this drug will cost over over time. I don’t know more than this, but what I do know is that both Dr. Stockler and the nurses we talked to said that ERT will begin in about 3 weeks. It still seems a bit of a ways away, but at least now it seems real.
For so long, and even after it was approved, it was this distant thing we were fighting for. Today it became real because we were given a more specific timeline and we were also given a tour of the Medical Day Unit (MDU), where Trey will get his infusions. We met the nurses on the MDU who went over everything with us. Where the food is, where the toys are, do we want a private room or a bed out in an open area…
We also went over ERT specifics. After speaking with other mamas whose kids have already started Elaprase, I have decided that I do not want Trey to go over 32mL/hour for the first few months. Protocol is that kids start off at 8mL/hr, then every 15-30 minutes are upped to 16mL, 24mL, 32mL and ending with 40mL/hr. When allergic reactions have occurred, they usually occur once the infusion rate is brought up to 40mL/hour. Not only do I not want Trey to have an allergic reaction, but once he has a reaction, they begin to pre-medicate with steroids and more antihistamines. I want to avoid that if I can. The nurse I talked with said that is okay with her.
Then we talked about how long we’ll be there for Trey’s infusion. Once a week we go to the hospital for ERT. Once there they give Trey his pre-medications (Benadryl and Tylenol). Then we wait an hour. Then, if the pharmacy is organized and on time and all that, Trey begins his infusions. Not going above a rate of 32mL/hour, we will be there for about 5 hours, and that is without hiccups like the pharmacy being on time, Trey having a reaction, the nurses having trouble accessing Trey’s Vascular Access Device (VAD…aka port) etcetera. So it will be a long day at the hospital. And one we are very much looking forward to. And if you’re still reading, you must be one of my parents or grandparents. 🙂