As defined by Doctionary.com, a pot of gold is ‘the realization of all one’s hope and dreams.’ At this point in time, with the only option for saving the brain in MPS II, intrathecal Elaprase is the MPS II parent’s pot of gold. It represents life for our boys.
We are at a critical point in time for families and boys with MPS II Hunter Syndrome. The Phase III trial is approaching (although delayed due to the FDA requiring more information on the new port- we’re now at least a few months away from a start date). The criteria is narrow. I PRAY that the start date arrives soon enough for families hoping to get their boys into the trial, but as this date approaches, I feel sick.
I waited five years with crippling anticipation and anxiety for Trey to qualify for the trial, testing his IQ every six months hoping it would stay within the range to qualify. I didn’t do this alone. I did it with my group of MPS II moms, all of who were hoping and praying for the same. Fortunately for our family, Trey’s IQ held up long enough for him to qualify. Unfortunately for my friends at the time, NONE of their kids got in. NOT ONE. There are only 8 boys with MPS II in the current Phase I/II IT trial in North America. Seven more in the UK. The rest of the boys, many of whose parents I am very close with, are dying.
Criteria needs to remain narrow in order to prove efficacy, so the FDA will approve the drug. If Shire cannot prove efficacy, the FDA will not approve the drug. But, this leaves two questions. One, how will Shire prove efficacy? I will address this question now. Two, what about all the boys who didn’t or won’t qualify? I will address this in my next blog post.
How does Shire prove efficacy to the FDA? In the untreated cognitively affected form MPS II Hunter Syndrome, boys lose all their skills until they enter a vegetative state and pass away. What would qualify as effective treatment for this disease and how can that be measured? Would preventing progression (preventing death) qualify as effective? In this case, IQ would continue to drop because the child is not gaining 12-months of skills in 12-months, which is the only way to maintain IQ. How would you measure maintenance of skills or prevention of loss when a dropping IQ appears to be loss? What about maintaining but not normalizing IQ (a ‘normal’ IQ is 80-120)? Or ‘normalizing’ IQ?
Where does Trey fit? Trey’s IQ is stable, which is amazing to me, since before IT drug Trey was losing IQ points faster than a kid whooshing down a waterslide. I just got results today from Trey’s IQ tests this past Monday and his CGA (Cognitive General Ability) is unchanged from a year ago. It gives me shivers. Trey is gaining 12-months of skills in 12-months. I didn’t expect it. The fact that I can see Trey learning and enjoying life is enough for me, but knowing that we’re up against drug approval, Trey’s test results are great news.
Ask anyone who knew Trey before the trial and who knows him now, and they would unanimously respond with how effective this IT drug has been for Trey.
Trey is learning to swim. He is 90% there. I have spoken with men who have an attenuated (not cognitively affected) form of Hunter Syndrome who have told me they cannot swim. Not because they don’t have the cognitive ability, but because the physical effects of Hunter Syndrome on their bodies prevents them from being able to swim. This drug is changing Trey’s body so much (not to mention what it takes cognitively to learn to swim), that he will learn to swim.
Trey can count, add and subtract. Until IT drug was seeping into the cells in his brain, although Trey had memorized the numbers from 1-10, he could not count 5 apples if you put them on the table in front of him. He had no concept of one-to-one correspondence. Now he is doing simple math and he also knows all his letters and letter sounds and is learning to read.
Trey hugs. Trey wouldn’t hug me before IT began. He wouldn’t hug anyone. He would lean in because he knew what we were asking and maybe he even wanted the hug too, but almost as soon as he would lean in, he would push back away. I wonder if it was a result of his vestibular system being out of whack? This observation has been made by other trial moms as well. Our boys didn’t hug before and now they’ll lean in for these long snuggly holds. Not only is it AMAZING to be able to hug and hold your child who you thought was going to die before you, but it made me wonder what other subtle and less observed or less obvious changes are going on inside Trey.
Trey is no longer dangerous. When Avery (Trey’s younger brother by 20 months) was four, he asked me if he could take kickboxing so he could defend himself against Trey. Losing the ability to speak, Trey was getting increasingly frustrated by our lack of ability to understand him, so he communicated in the only way he could. He would hit, kick, bite, push, throw. To a kid half Trey’s size, Avery was terrified to live in our house. Until Trey began receiving IT drug, we could not leave Trey’s younger siblings in a room alone with him because Trey was a danger to them. Now they do puzzles and play games like Bingo, tag, and Monopoly Jr together.
This is only the tip of the iceberg. I could write at least one thesis on all the improvements- not just stabilizations- Trey has made since beginning the IT drug. You might ask me how I know these improvements in Trey’s behavior, body and cognition are a result of this drug? Because this is a progressive disease. Because between August of 2010 and October 2011 (when Trey started receiving IT drug), Trey lost 25 IQ points. 25. In 14 months.
If Trey had not received IT, I don’t know exactly where he would be at this point in time, but he would have continued to lose the skills he’d gained such as riding his bike, the ability to eat or speak, until he died. When Trey was first diagnosed and I read what the progression of disease is like in the severe form of MPS II, I read things like: seizures, feeding tubes, adaptive strollers, adaptive bath and shower seats, safe rooms, vegetative state, early death. Trey would have lost EVERYTHING.
But instead, Trey began IT. No, Trey is not completely typical, but I’m not sure he’s not becoming more and more so every day. It’s getting harder and harder to pick Trey out of a crowd. His world is NOTHING compared to what it would have been had he not received IT drug. He gets to play community soccer and baseball, two of the most important things in the world to him. He can go out in our front yard and ride bikes and play street hockey in the cul-de-sac BY HIMSELF because he can pay attention to cars and safety and he has the social and athletic skills to do so.
Instead of a funeral, I am now contemplating the possibility of Trey holding a job or getting a girlfriend (he’s looking for a redhead ladies ;-)). I would argue that the ability to halt a progressive disease is a miracle. What do you think?
If you have comments on Trey’s before and after IT drug observations, or if you would like to weigh in with your thoughts, please comment!!
Pictured above: After our incredible night out with the City of NV Fire Fighters, we dropped off some ‘Got Hope’ shirts to the hall. Derek, far left, got everyone dressed up and sent me this picture. Do you think they’ve Got Hope? Thank you Derek and the CNVFD, your community support means more than you know.
