January 23, 2014 mcfadyena

An Open Letter to Shire CEO Flemming Ornskov

Before I get on with the letter that Jamie and Jason Fowler hand delivered to Flemming Ornskov at their brief meeting in Chicago last Saturday, January 18 (more can be read at Jack’s new website: http://www.savejack.ca/), I am bursting with hopeful news. Due to new and close connections our MPS II community has developed with the FDA, this past week, our #SaveJack team connected directly with the FDA on one very important point. If an adverse event happened to Jack, would or could the FDA shut down the trial? This is a quote directly from the FDA this week:
‘As far as I know, and in our collective knowledge here at CDER, adverse events occurring during the development program have not delayed the programs.  In one case, we know the drug development was actually accelerated.’
Former FDA Commissioner Dr. Lester Crawford stated:
“The FDA, categorically, does not attach special significance to adverse events reported from such expanded access program as (one critic) has tried to join.  We recognize that these programs involve less-controlled use of new drugs, and we assess the reported data accordingly.  The development of a new medication is not slowed by side effects occurring outside clinical trials.”
In my eyes, this has been the only question holding us back. I can see from Shire’s perspective why they would not approve a drug for a child if it could threaten their clinical trial and shut down treatment for many other children (not including the financial burden they must look at). However, with the above answer straight from the horses mouth, there is no good reason not to submit an application to the FDA for Jack Fowler to receive Intrathecal Elaprase.
It will not harm their trial. A doctor and institution are ready. The finances are in place if there are any issues with funding. We just need Shire to say yes. With this new news, I am so so so hopeful that there is no longer anything holding Shire back from saving Jack’s life.
Please please please Flemming Ornskov and Phil Vickers, the decision has been made so easy for you!! Just say yes! And finally, here’s the letter:
Dear. Dr. Ornskov,
My name is Deb Purcell and I am the mother of a boy, Trey, who lives with MPS II. The long version of our journey is on our website at www.treypurcell.com. The short(er) version, I will share with you here.
Trey was diagnosed unexpectedly at 23 months of age on February 14, 2006. That diagnosis uprooted our lives. It changed everything about what it means to be a parent, what it means to be alive. It took my husband and I at least a year to adjust to what it meant to be parents of a child with MPS II. Most of our days were filled with tears and the only reasons we could find to live were our two children at the time, Trey and his 3-month old brother Avery.
One year after diagnosis, after a huge battle with our government to access the drug, Trey began IV Elaprase. With Elaprase giving us hope, life improved. However, as you know, 2/3 of kids with Hunter’s are cognitively affected. Beginning when Trey was two, every six months we traveled to North Carolina to have Trey’s IQ tested. With each test, we were told that the chances of Trey’s brain being affected were reduced. When Trey first tested for the Intrathecal trial at the age of five in 2009, Dr. Muenzer told us Trey’s brain would be okay. His IQ was stable and Trey was beyond the age at which his IQ would decline. When Trey was six, I asked Dr. Muenzer to test Trey one last time, to be sure. It was then we were told Trey’s brain was affected and Trey would be screened for the trial.
I cannot explain to you what it is like to live for four and a half years, wondering if my son would live or die. Because that is the difference between the severe and attenuated form of Hunter Syndrome to a parent. Attenuated means college, jobs, traveling, LIFE. Possibility. Severe means g-tubes, seizures, wheelchairs, safe rooms, vegetative state, and DEATH.
For four and a half years, every moment of my life was taken up by fear. If Trey had a toilet accident, if he hit his brother, if he forgot a word, if he put his shirt or pants or shoes on backwards, if he had a tantrum, if he didn’t finish a puzzle or scribbled on paper instead of drawing, if he choked on food, if he woke in the night, I was seized by terror and the possibility that Trey’s brain was affected. Even when Trey did great, when he learned a new word, when he shared, when he learned to cut with a knife or ride a bike or put his hearing aids in, I wondered if that meant his brain was okay. For four and a half years, I lived with indescribable fear.
When we learned Trey’s brain was affected, I had the second biggest collapse of my life, the first being upon diagnosis. When I got back up after that, I had something to fight for. The Intrathecal trial.
I planned how often to call and email Dr. Muenzer so that he would know we want Trey in the trial and are dedicated and not giving up, but not so much that I would put him off. We stopped turning on any movies or TV and hired daily tutors to keep Trey’s cognition high enough long enough so he would not drop below inclusion criteria. I interviewed doctors about symptoms of hydrocephalus so I could have some indication of whether or not Trey’s intracranial pressure (ICP) would exclude him. We did anything and everything we could- I could tell you more in person- to ensure Trey would qualify for the trial.
That qualifying trip to UNC was the hardest time of my life. There was a drug that would save my son’s life, and an arbitrary number would tell us whether or not he would get it. Waiting four hours while Trey was under general anesthetic for the qualifying tests is indescribable. I have never been so close to a panic attack. For the first two hours I distracted myself with reading and practicing yoga. As we got closer to the time when Dr. Muenzer would walk in that door and give us the news, I could only sit and stare in front of me. I could not talk to my mom or husband. Every time the waiting room door opened, my stomach jumped and my heart dropped. I began to feel nauseous and sweaty and shaky and after an hour and a half of this, I thought I was going to throw up, pass out or explode (I’m not exaggerating). When Dr. Muenzer walked in and told us Trey qualified, I collapsed with relief. Trey got to live. Trey would live. I couldn’t believe it. It took me months to understand what that really meant. Trey gets to live.
Life since Trey qualified for the IT trial has changed completely. Instead of a life of fear and loss and sadness, our family is LIVING. Really living. I don’t have to wonder what skill or word Trey will lose today or push away the thought of when he will die and what song I will play at his funeral.
When Trey first started receiving IT drug, I recorded every new thing he did. This was easy to notice because Trey had stopped making big gains. He lost 25 IQ points between August 2010 when his IQ qualified him for the trial and 14 months later when he got his first dose of IT drug in October of 2011. At that point Trey was down to one-syllabyl words and 3-4 word sentences. His proprioceptive and vestibular needs led him to hit and bang anything he could get his hands on and spank any bum within his reach. His younger siblings were not safe in a room alone with him.
Now? You really need to speak with my family and those who worked with him before and after. They will cry. EVERY LAST ONE OF THEM. There have been so many changes in Trey as a result of this IT drug, I could wrote a thesis on it, but here are a few:
I can’t even count how many words are in Trey’s sentences. His language has grown so incredibly that he uses complete sentences (he used to skip small words like ‘it’ ‘as’ ‘the’), joins sentences with the word because (never did he do that before) and uses descriptive language. Trey’s speech therapist noted that before IT drug, when she tried to play a simple game with him, he would grab pieces because he couldn’t wait and throw the game when he was done because he was frustrated and didn’t know how to say he was done. About six months ago Trey threw the game and when she asked why, he said ‘Because I am done with the game and I wanted to throw the game so the pieces would go over your head.’ More recently, Trey told her he didn’t want to play so they stopped, and about two months ago, she pushed Trey even farther, telling him she wasn’t done playing so he had to wait, so he sat and waited. A month ago he kept playing until the game was over, even though he was done.
It’s small details like these that are noticeable and some I don’t even notice right away. It was random one day that I suddenly realized Trey no longer has a need to drum and hit, that he no longer smacks people’s bums.
He began to hug us. Before the trial, I could tell Trey wanted to hug, but he would lean in and back right out again. He couldn’t hug. Now we hug for hours, which as a mom told her child was going to die, is by far the best perk.
Trey is learning to swim. He is learning his letter sounds and learning to read. I never thought he would. Trey now understands one-to-one correlation with numbers and is learning to add and subtract. No matter how many times I tried, he never made this connection with numbers before.
Our family is learning ASL and for the first time Trey has the attention to sit for an hour lesson and actually attempts to form signs with his hands.
The biggest change is quality of life. Trey can be alone with his siblings, he understands not to touch sharp knives or touch hot stoves. I can tell him to go to bed and he will. For the first time, Trey is beginning to understand and make connections. When I was trying to figure out if Trey’s brain was affected or not, Melissa Hogan described ‘passing conversations’ to me and it became clear as day. When you talk to a child who is cognitively affected, it’s like you’re two cars on a highway passing each other. The connection is missed. Trey was just like that. Every day now I see new connections being made in Trey’s brain. I feel like I can see the IT Idursulfase clearing new pathways in his brain. It is so so very awesome. Trey has a progressive disease that is no longer progressive and is actually reversing itself. I keep wondering how I got so lucky and if this really is for real.
Jamie could have been me and I could have been her. Jack could have qualified for the IT trial and Trey could have been excluded. It was the flip of a coin. Chance. What would I want her to do for me if I were in her shoes? How hard would I need her to fight for my son’s life? These are questions I ask myself.
I will fight for Jack and I will fight for Trey because they are both my boys. This means fighting until Jack gets access to drug because as a parent, it is incomprehensible to me that anyone thinks another parent could give up on their child’s life. It also means fighting to get this drug approved if anyone gets in the way. If there is one thing MPS parents learn how to do better than anything else, it is to fight. We have been fighting systems, institutions, governments, schools, hospitals, insurance and pharmaceutical companies, and injustice since the day our children were diagnosed.
What would I do to get this drug approved? ANYTHING. What would you do to keep your child alive? ANYTHING. This drug has saved Trey’s life. I would do anything to get this drug approved because it is the only thing keeping Trey alive. This is not even a mild exaggeration. That some ponder its efficacy is shocking. It makes me realize that those people have no connection to families with Hunter Syndrome. This drug is a miracle.
Deb Purcell


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