Intrathecal Trial Update – 10 down, forever to go

Posted Friday September 30, 2011 by Melissa

Case riding a tricycle

Case has now received 10 doses of the intrathecal idursulfase drug and it felt like an update was in order. I will be honest, it is getting difficult to keep track anymore of what he is doing that is new, better, or different. Not because it isn’t there, but because we are so busy just living life. That feels really good to say.

Case riding a tricycleCase continues in good health and in learning new things, although it is still clear that there are challenges to his memory and processing. However, his independence and desire to do everything his brothers are doing (and understanding when he doesn’t get to!) is amazing. He can mostly get dressed and undressed, don and doff his shoes, get a snack, go to the bathroom (with help), have conversations, play with his brothers, learn to peddle a Big Wheel, and I could go on and on.

Case's Morning RoutineWe have created a morning and evening to do list and he really enjoys checking off what he has done (he still can’t write an X, but his writing and copying abilities are areas that we have noticed continued challenge and we’re working on this a lot).

We recently visited our alma mater, Georgetown College, for homecoming and it was incredible to experience things and sometimes think, “Wow, this is what a normal family feels like.” It felt both good and guilty to feel that way. Our three boys played in the hotel pool together and not only did I not have to hold Case, I could sit outside the pool while he swam around and played with his floaties on! The boys all participated in a football passing competition and while Case was, of course, more challenging, he was able to participate and have a fabulous time! (Our oldest won a football signed by the team).

All the boys

Georgetown College Homecoming 2011 Kids Zone

10 down… So what does it mean that Case has had 10 doses? Well, we have seen such improvement that we are incredibly hopeful that this drug will stabilize the brain decline. Result: hope for a much longer and less painful life for Case. We are hopeful that his learning will continue (as we’ve seen), but frankly, even if it doesn’t, this trial has and continues to change our lives and allow us to enjoy and get to know Case better. It is incredibly fun to discover which parts of his personality are totally him and which parts are Hunter Syndrome. For example, MPS does come with some stubbornness, but Case is a strong-willed child in himself! Surprise, surprise! He also just has this incredibly funny sense of humor that we are enjoying all the time. Case will have new cognitive testing within the next few months, so we will know more then about his overall cognitive stabilization.

It does wear on you a bit that this process of infusions is never-ending, i.e., he will have to continue to get these infusions his entire life to stave off the effects of the disease, absent a cure. But frankly, I’m just thankful that there is something there and that we’ve been blessed to have access to it.

All the boys

Hanging out at the passing competition

Dosing. Case’s last several doses of IT idursulfase have been done with just a dose of Versed, a sedative. He has been awake for the procedure and we try to make it as close as possible to a normal access of his intravenous port (well, as close as you can in a clean room with many masked faces!). We have always found that consistency and being calm and soothing have helped Case through so many medical procedures. Since his regular port gets accessed every week and he’s used to it, we hope and expect to start removing the Versed from the process, especially when we get close to getting doses at our home hospital, Vanderbilt.

Transitions. Speaking of transitioning to our home hospital…. It looks like that may be a long way off. The protocol would permit us to do it now, however, the research nurse for Case’s physician has left and the hospital is apparently not looking to replace the position. Without this person, it may be quite difficult to both get the IRB application prepared and approved, and to have the coordination and support necessary to actually get the procedures there.

Case swimming in NC

Case swimming in NC

So… we are content to continue our monthly trips to North Carolina. It is a beautiful place and frequent flyer and hotel points, as well as getting to visit with other families, are not bad perks. But, we are hoping and praying that we will get to stop traveling so much at some point in 2012. If your family will be at UNC for a visit, please contact me and maybe we’ll get to meet!

Enjoy Case’s recent performance on the stage at Vanderbilt Children’s Hospital after his weekly Elaprase infusion! He is still uniquely Case, which we hope will never change!

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