October 18, 2011 mcfadyena

Trey's first IT dose- a MONUMENTAL day

Trey’s first dose as part of the MPS II Intrathecal trial was successful. We were the second case of the day and Trey was brought back at 8:45am. Dr. Muenzer came back to the waiting room with Ryan after Trey being put to sleep and commented that Trey was so cooperative, Trey even put the face mask on himself! That was really nice to hear for two reasons. Trey will receive general anesthetic once a month for the next 3-6 monthes to receive his dose after which time they will try sedatives. Trey is very good with me accessing him for his IV Elaprase home infusions, so I am hoping that we might even be able to skip sedatives and let him be fully awake for his IT doses after that time (the trial is actually only 6 monthes long, after which time Trey will roll over to the extension study). The second reason is, since Trey is having to go to sleep monthly, it will be relieving for all if it doesn’t cause a lot of anxiety and fear in him.
The next awesome news is that the port worked! Dr. Muenzer was able to draw back fluid to send to the lab and Shire. Although you’d assume the port would work, the port used in this trial, the only intrathecal port available to date, has been problematic (it is the reason the trial was put on hold). When Trey was in surgery for his port placement, another boy who is in the IT trial was having difficulty with his port (it had been placed only a month or so earlier), and his mom posted that the port may be broken. With so many port issues in the trial, knowing that Trey’s port is working is a huge relief!
But of course, the big big news, the reason we are here, is that Trey now has enzyme floating around in his brain. I can’t describe what this feels like as a mom. When Trey was almost two, I was told he would stop growing, his hands would curl, his facial features would ‘coarsen’ (another word I dislike, but one that doctors use to describe our boys) his joints would stiffen, his heart valves would thicken, his airways would fail, it was likely his development would plateau and decline. The prognosis was awful. Trey was going to die. Young.
But, when Trey was three, he began IV Elarpase, enzyme that would help and hopefully save his body. The results of IV Elarpase have been amazing. Trey is tall, his joints have good range, his heart and airways are doing well, and he looks like any other kid around him. However, it hasn’t helped his brain, the major part missing in the equation. Today that changed. Today marks a day of hope, a day of possibility. Trey is getting the enzyme he is missing, ALL OVER HIS BODY.
I can’t wait to see what that looks like. What Trey with enzyme in his brain and central nervous system looks like. Dr. Muenzer has said that stabilization is the goal. Improvements would be icing on the cake. But I am still excited.
Thank you all for your support and emails and messages and calls. I can say it again and again, but when your child is going through something like this and I’m sitting here waiting-to get into the trial, for port surgery, for dosing, having you behind us, makes the difference.
I first heard about the possibility of this trial during Trey’s diagnosis five and a half years ago. Today it’s a reality. What a journey.


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