Well – race weekend is here and we’ve all arrived in Ottawa to Run for a Reason. We’re here to find a cure for MPS. I’ve done more training than any other race I’ve been in, and have been running for a lot of different kids during that time. It’s our brave kids that keep me going – both in my drive to find a cure and while I’m out there trying to reach the finish line.
In everything I do, I have my son Isaac as my inspiration. And this race is no different – race day is for him. But I’m also running for another little boy, someone I love dearly, but someone I can’t help but feel I’ve let down. I’m running for the one boy that I haven’t been able to win the battle for, the boy who keeps me up at night with worry, sorrow, and guilt. I’m running for you, Jack Fowler, with a heavy heart but with resolve to keep fighting for you; with a promise to do whatever it takes to help you win your battle.
We’ve been lucky to play a small role in the lives of many kids and families during the past 9 years – something I’ll always be proud of. We’re closing in on $1 million donated to research projects aiming to find a cure. We think we’re close to a cure for MPS VI, and the incredible MPS II Research Fund is currently funding 3 promising Gene Therapy projects. We’ve taken on drug companies on behalf of our kids, we’ve won battles big and small. But for Jack, we continue to come up short and hit barrier after barrier – barriers I’m finding difficult to break through, jump over, or move around.
I feel the weight of this inability to help Jack more than ever, and I feel like I’ve let him and his family down. When I first got involved in the fight to save Jack, I promised I would do everything in my power to get him the treatment he needs. We met with Shire, launched public campaigns, hit the media circuit, and shared his story around the world. Today, a year and a half later, we still haven’t found the right way to help, and I’m heartbroken that we haven’t been able to access treatment yet.
Oftentimes, parents connect with me as a last hope – the last person to turn to in their battle to get treatment for their kids. And I’m always here to help. But so far we’ve failed, and I feel guilt and shame, broken and hurt. And I feel it all strongly because if I can feel proud for those that we’ve been able to help, I should also accept the pain that comes from those that haven’t been successful in helping yet.
For Jack, like other kids, I’ve always felt like I was the last hope – if everything we do isn’t successful, then there would be nowhere else to turn. But I’m wrong – I’m not the last person that can help. That last hope doesn’t sit with me. The last person that can help is Flemming Ornskov, CEO of Shire PLC – the drug company that makes the treatment Jack so desperately needs. Flemming continues to act as judge, jury, and executioner, and he truly is the only person who can step in and make a difference.
So this run is also for you, Flemming. Dedicated to you as a final plea to find it within yourself to be brave – to go out and help those you purport to care about most as a company. This run is for you, Flemmming, in hopes that you see that this guilt I bear should be shared by you – that your legacy as a person and a businessman will always come back to this case – to this little boy – and the decisions you make about his future. It’s for you, and for Jack, with a promise to you both that I won’t ever quit the fight to save him, no matter what road that battle may take me down.
You’ll be with me this weekend, Jack, like you’re with me each and every minute of every day. You inspire me to work harder, fight stronger, to never give up. I promise I’ll run to the end of the road for you, and beyond.
The Isaac Foundation is proud to announce that our application for our 2014 Research Grants is now available. $100,000 is available from our general MPS Research Fund, and another $50,000 grant is available from the MPS II Research Fund.
Application deadline is May 1. A decision will be reached by June 15, with funds dispersed on or before June 31, 2014.
The Isaac Foundation is pleased to announce two research grant opportunities with a call for a $100,000 grant through our general MPS Fund and a call for $50,000 from our MPS II Research Fund.
Last month also saw us renew a research project for $50,000, bringing our total research grants from The Isaac Foundation early 2014 to $200,000!
We continue to be proud of the work that we do in the MPS Community. To date, we are well over 1/2 million dollars granted to research projects throughout the world and we will continue to grow and support innovative research until a cure for MPS is found.
Calls for Applications to these grants will be issued soon.
We are also very pleased to announce that Dr. Barbara Burton and Dr. Paul Harmatz, both world-renowned MPS specialist from the United States, have joined our Medical Advisory panel to review and advise on research applications as they come in. Dr. Burton and Dr. Harmatz join Dr. Julian Raiman and Dr. Joe Clarke to round out our 2014 Medical Advisory Panel.
More details to follow soon. Thanks for you continued support as we seek to find a cure for our kids!
Should a dying child receive an unproven experimental drug even if the patient doesn’t fit within a carefully designed clinical trial?
More than 53,000 people who have signed an online petition on behalf of a Mundelein boy say yes, absolutely. But Shire, the Ireland-based pharmaceutical company that owns the drug, says it’s a complicated matter and has refused to make the drug available to the child.
At the heart of this moral and ethical dilemma is 6-year-old Jack Fowler. Jack has a rare disorder called Hunter syndrome, or MPS II, that is expected to kill him because he lacks the enzyme needed to break down cellular waste in his body. Ten to 20 years is the usual life expectancy of someone with the disease, but Jack’s more severe type means he may have less time.
An estimated 2,000 patients — nearly all boys — are affected by the disease worldwide.
The hope is that the drug in question, SHP-609, can for the first time, slow or halt the progression of the disease in the brain. It is going through clinical trials, which means it hasn’t been approved by the Food and Drug Administration yet. The Phase II/III stages are just starting, and FDA approval happens after Phase III.
So Jack’s parents, Jason and Jamie Fowler, have been trying to get a “compassionate use” approval for Jack, which the FDA allows on a case-by-case basis. Clearance for such use means Jack’s case would not influence outcomes in the clinical trial, so an adverse reaction by Jack, for example, would not count against the drug.
For two years, the Fowlers have pleaded with Shire to let their son be part of the clinical trial or get the drug through compassionate use, including during a brief meeting with the company’s CEO, Dr. Flemming Ornskov, in a Chicago airport hotel in January. An advocate for the Fowlers, Andrew McFadyen of The Isaac Foundation, a nonprofit group focused on treatments for rare diseases, started the meeting by stating, “An immoral decision remains immoral if delivered in ones face,” and said that if Shire was still choosing death over saving a life then the meeting was over, according to Jamie Fowler.
Shire “delivered the same grim news, so we upped and walked out,” Jamie Fowler said in an email.
Dr. Barbara K. Burton, Jack’s geneticist at Lurie Children’s Hospital of Chicago and one of the investigators for Shire’s clinical trial, said there’s no evidence one way or another that the drug will save Jack’s life. “It’s conceivable that it would hasten his death,” Burton said, but added, “What I do know is that without [any treatment beyond what he’s getting now], he is definitely going to die.”
For that reason, she supports the Fowlers’ position.
Shire said it has compassion for the Fowler family. Yet “we believe that expanding access to SHP-609 beyond the clinical trial can put the overall development at risk and delay or eliminate the opportunity to make a safe, approved treatment more widely available to the global Hunter syndrome community,” Ornskov said.
An FDA spokeswoman said that of the 940 submitted requests for expanded access for such investigational drugs between October 2011 and September 2012, all but four cases were allowed to proceed.
Unknown adverse events usually do not prevent a compassionate use request from being granted, but that is determined on each case, the FDA added. The agency could not comment specifically on Jack’s case.
Dr. Michael Caplan, pediatrics department chairman at NorthShore University HealthSystem, who is knowledgeable about clinical trials, also did not speak about Jack’s situation, but he said experimental drugs usually aren’t given to patients outside clinical trials until Phase III is complete. Safety is the issue, Caplan said.
Shire didn’t say for sure whether that might be a possibility for Jack after the Phase III is done, but a spokeswoman noted that Shire has done that in the past.
Lewis Smith, an associate vice president of research and a medicine professor at Northwestern University Feinberg School of Medicine, said, “these are moral, ethical dilemmas.”
Companies typically are very concerned about allowing people who are not in the clinical trial access to the drug, because “they’re very concerned about whether that would muddy their results, because this is a rare disease,” Smith said.
Yet, it’s an emotional issue, especially when a child is involved, Smith said.
That’s clear when Jamie Fowler talks about how Jack’s cognitive deterioration, which came with the disease, is slowly taking away his personality. Gone is his ability to say “sis” for his sister, Juliet. Fowler dreads the same fate for “mom.” “It’s heartbreaking,” Fowler said, crying.
They’ve turned to social media, such as Facebook, to try to get Shire to reconsider. An online petition hopes to hit 75,000 signatures by the end of the month; there are more than 50,000 names so far. The family also started doing media interviews to get the word out about their case.
Nothing has worked so far, but the Fowlers said they aren’t stopping until Jack gets the drug to see if it can save his life.
“We won’t sit by and watch our son die,” Jamie said.
Contributing: Chris Fusco
Email: mjthomas@suntimes.com
Twitter: @MonifaThomas1
Family fights to get drug for dying 6-year-old son February 20th, 2014mcfadyena
I thought I would take a moment to update you on our latest attempt, our latest plea, to Shire Pharmaceuticals to open communication and connect with us about Jack Fowler, Expanded Access, and doing what is right for the Hunter Community as a whole.
Yesterday evening, I sent Shire CEO Flemming Ornskov and Head of R and D Phil Vickers an invitation to participate in a teleconference with Jack’s physician (and Internationally renowned MPS expert) Dr. Barbara Burton, and with Dr. Emil Kakkis, an expert in rare diseases who has a wealth of experience in the pharmaceutical world and with expanded access requests to save children’s lives. The purpose of the call was to ensure that all parties are on the same page moving forward, with the hope that a collaborative discussion can take place to best meet the needs of everyone involved.
I have not had a response from Shire, though I remain hopeful that they will agree to participate. At some point, someone at that company needs to look at this situation with a different lens. At some point, someone at Shire will have to look back at their company credo and work to “Be As Brave As The People” they treat. I’m hoping that some point is soon.
I’ll keep you updated as things progress. In the meantime, I’ve been busy speaking with numerous media outlets and scheduling in radio appearances. I can confirm that Jamie and Jason Fowler, Jack’s parents, and The Isaac Foundation will appear on a Boston Call-In Show in late February, from 9 – 10 pm. This show is carried over 38 states, so chances are we’ll be on the radio somewhere close to you.
We know that our case to #SaveJack is solid. We have everything in place to save this little boy’s life. We only need Shire to sponsor our effort, something we all know they should do.
Last night on NBC news, Shire Pharmaceuticals released a statement for the media (no personal interviews, sadly). Our response to their statement is included below.
Once again, I’m calling on Shire to publicly address our case, point by point, with their rationale for not supporting expanded access use for Jack Fowler. I’m happy to present the document publicly, and I call on Flemming Ornskov to be open, transparent, and honest with the Fowler family and the public, and provide the reasons that Shire cannot live up to their public motto by “Being Brave” to #SaveJack.
Shire’s statement reads:
We remain deeply sympathetic to Jack Fowler and his family. Patients have been, and will always be, at the heart of what we do, and have driven our desire to research potential new therapies for more than 20 years. Guidance from regulatory agencies is that expanded access to investigational medicines and devices outside of a clinical study setting should be based on the existence of compelling evidence of efficacy, or the drug’s benefit, and safety. Efficacy is typically studied in later stage trials; these data are not yet available for our investigational treatment as we have only just initiated our Phase II/III study. Shire does support, and has provided, expanded access at the appropriate stage in the development process-when clinically validated efficacy and safety information is available. We remain focused on completing our Phase II/III trial with the hope of making our investigational treatment available to as many Hunter syndrome patients as possible, as quickly as possible.
1. “Patients have been, and will always be, at the heart of what we do…”
Flemming Ornskov specifically said to the Fowler family, and I was present to witness this statement: “We don’t deal with patients. We don’t deal with families. We are in the business of developing products.”
2. ” Guidance from regulatory agencies is that expanded access to investigational medicines and devices outside of a clinical study setting should be based on the existence of compelling evidence of efficacy…”
Richard Klein, a member of the Office of Special Health Issues at the FDA (the regulatory body authority that guides expanded access protocol) has stated a few things regarding efficacy (source information at bottom):
“Confidence of safety is more important than efficacy.”
With regards to safety confidence, “for a patient with an immediate life-threatening condition, evidentiary burden is low.”
“Efficacy (and safety) of early phase investigational drugs not proven – and sometimes not known; however, might be given in hope of direct benefit to patient.”
3. “Shire does support, and has provided, expanded access at the appropriate stage in the development process-when clinically validated efficacy and safety information is available.”
Shire did not have a compassionate (or expanded use) policy in place when we approached them about Jack Fowler. I have the transcript of our teleconference where we questioned them on this fact, and they agreed that there should be something in place but that there was not. While they may have allowed this type of request in the past, they have had not set criteria to allow expanded access for patients until January of 2014, long after we approached them to #SaveJack. Incidentally, those criteria are riddled with errors, and I will post our response to that policy soon.
4. “We remain focused on completing our Phase II/III trial…”
Expanded Access to an investigation drug outside the clinical trial setting can HELP with clinical trials and, in some cases, speed up approval of a drug. As well, any adverse affects that transpire while a patient is receiving Expanded Access to a medication DOES NOT IMPACT THE CLINICAL TRIAL in the slightest. See below, direct from the FDA:
In an email to The Isaac Foundation, Janet Woodcock from the FDA stated, “…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.”
The FDA has made a very clear statement on this matter, and included this information in their report on Expanded Access. This report states: “Although adverse events first identified during expanded access use of certain drugs have been included in the drugs’ approved product labeling, we are unaware of any cases in which adverse event information obtained from expanded access use has resulted in denial of approval for a product.”
Former FDA Director 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.”
Source from Richard Klein: http://www.fda.gov/downloads/ForIndustry/DevelopingProductsforRareDiseasesConditions/OOPDNewsArchive/UCM294794.pdf
Shire has released there guidelines for compassionate use (or expanded use) of their products. They didn’t have any criteria before we approached them, which continues to astound me. Regardless, their criteria is riddled with issues and inaccuracies, and I’ll post our response to it tomorrow.
In the meantime, the info graphic included below is a quote from Shire’s CEO Flemming Ornskov. Jamie Fowler, Jack’s mom, posted it on her page today, and it’s quite telling.
The letter below is posted on Deb Purcell’s blog site over at treypurcell.com. Deb is the director of our MPS II Fund, is a passionate advocate for children suffering from MPS, has been responsible for bringing so much awareness to the disease throughout Canada, and is one of the kindest and most caring people I have ever met.
Deb’s son Trey has MPS II and is currently enrolled in Shire’s clinical trial. Her letter below was hand-delivered to Flemming Ornskov by myself and the Fowler Family during our now infamous 30 second meeting with the CEO.
Sadly, I have a hard time believing that he read it. And I have a hard time believing he took the huge binders with over 32,000 signatures and comments from people around the globe supporting Jack. Or the other letters from parents who have children currently enrolled in the trial. And most sad of all, I expect he didn’t look or read the note that Jack’s mom left him.
Regardless, the message is poinient and is beautifully written. And because our site has been visited an unbelievable amount of times throughout this campaign, I’m including it below for you to read, comment, and share.
Oh – and Shire has been spending the bulk of their day visiting our site and reading your comments and posts. Perhaps Flemming will take a moment to read the thoughts below while he’s here.
Thanks, as always, for your love, care, and support.
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.
Sincerely,
Deb Purcell
An Open Letter To Flemming Ornskov – A Passionate and Poignant Message January 28th, 2014mcfadyena
