What is Compelling Evidence? The mother frogs speak

Posted Friday August 23, 2013 by Melissa

What have you been doing for the past 3 1/2 years?

Having a few children? Learning a new language? Starting a new job?

I’ve been watching lives being saved. Children going from death to life. Parents laughing again. Letting their children run free. More hugs and kisses than you could possibly imagine.

But then I turn around and in that same 3 1/2 years, I’ve watched children lose the ability to speak, become wheelchair bound, disengage from those around them, and deteriorate toward an early death.

Trust me, 3 1/2 years goes way too fast (and in drug development, too slow) in a disease with an average lifespan of 12-15 years old.

It is that dichotomy that caused me to write the previous post, A Tale of Two Frogs: a rare disease story. While I’ve been able to celebrate the stability of my son and his new learnings, I am faced with the dire reality of so many other boys with Hunter Syndrome who were either too young, too old, had a shunt, or just plain weren’t in the right place at the right time.

So why? That is the question I hear most often. Why? When anyone can see Case’s not only stability but amazing progress, why are boys any longer destined to sit and wait to gain access to this drug? Either until they might possibly be among the few who qualify for the next phase of a trial (within the next year, hopefully) but in the meantime they watch their child lose skills and as each day passes, risk falling under the qualifying IQ threshold, or heaven forbid, the 3-5 more years it may take until FDA approval?

Why are boys still dying? Losing their ability to speak? Losing their vibrant personalities? Losing what their parents so long to keep?


From http://www.ice-epilepsy.org/us-drug-approval-process.html.

Bureaucracy… Process… Legalities… Systems…

I don’t care what the name is that you give it, that is what it is. The Food & Drug Administration (FDA) is the United States federal agency responsible for managing the clinical trial process for drugs not yet approved for use by the general public and the eventual approval and labeling of their use.

And the FDA’s “process” to either allow people compassionate access to the drug outside of a trial, or to eventually get it approved, appears to need compelling evidence of clinical benefit. Not just a little bit. Not just anecdotes. Compelling evidence. Objective, compelling evidence.

Do you want to guess how easy it is to get objective, compelling evidence in a very small population of a cognitively and behaviorally impaired boys whose disease itself makes them generally unwilling or unable to complete the very tests that the FDA wants?

And all the while, if they held a meeting or inquiry of the families whose kids are receiving the drug, and the families of the kids who need it, I think their question of compelling evidence would be easily answered. Or speak with anyone in our community that even comes into casual contact with Case. Their jaws drop and they shake their heads at the amazing miracle that his life has become. And the stories of other families are similar.

I read rare disease news, journals, stock analyst reports. They banter about the race to to get a drug for Duchenne Muscular Dystrophy on the market. Yes, very important news. But I see little to no press on our IT Idursulfase. Our groundbreaking drug that will alter the course of a mind-wasting disease. The data was proposed for a presentation to an international metabolic conference and it was relegated to a poster. A poster. And nowhere do I see reports of the fact that actual lives have been saved. This drug has saved lives. It has brought children from death to life.

The original goal was stability. But it has achieved that and for many of the boys, so much more.

Simply put, Case was dying. And now he’s not.

There, I’ve said it.

Where is the headline on that?

I could list through all the things he knows and can do now compared to 2 years ago, but unless you’ve seen him, you may not believe it. You may not believe that a Hunter boy can seem so much like a typical child that many that encounter him don’t know there’s anything “wrong” with him. Him whose parents were told he would die. And now he climbs climbing walls, swims underwater for diving rings, watches football, plays soccer, writes his name, tells me “that’s cool” or “that’s funny,” asks and answers who, what, where, and why questions, has true friends, bags my groceries, picks out his own clothes, dresses himself, plays outside by himself, walks by himself in the airport and in crowded parking lots, obeys when I tell him to stop, and wants to be a fireman.

So why, why do my friends’ children still have to die? Someone explain that one to me. Someone take Jack, and Declan, and Danny, and Logan, and Zane, and Tucker, and Matthew, and Scotty, and so many more that my heart can’t continue, into their home and explain to them why there is a drug that can save their life yet they cannot have it.

Be honest and say that you’re protecting them to death.

Rare disease is different. And ultra rare disease is ultra different.

Many of us are working to make sure the FDA understands this and that as many boys can receive treatment as possible. But we need you!

Have you seen Case recently? Or another child in the trial? What compelling evidence have you seen?

Or maybe you’re a mother frog in waiting. What risks would you take, what desires do you have to get access to this drug for your child?

We need to hear your voice!

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9 Responses to “What is Compelling Evidence? The mother frogs speak”

  1. I know that my husband and I would take the risks of a drug that is in trial that has shown so much promise. In our mind I’ll just say it plain and simple. What do we or Camron have to lose. This horrible disease will kill him anyway so why not take a chance. Wish we could have gotten it for Camron but he was to far progressed to qualify for the trial and then there was the issue of getting there and time off work. Especially hard when both work and the cost of everything. Hate to say it but all that matters.

  2. Who is one to say what is compelling evidence and what is not? I have seen a tremendous change in Case in all aspects. 2 years ago, he would hardly speak and had trouble walking. Now, he calls me Ms.Beth and runs and plays with my child.
    I have seen the miracle that this drug has been to his life and also to his family.
    Can’t there be some loop hole, some way for families to sign a waver and get this life saving drug??? I know that the pharm company just wants the “perfect” candidates so their drug will have a higher chance of approval…..but who should determine the “perfect” patient? How about giving the drug to everyone interested and changing their lives forever! Then you will see the huge impact and so will the FDA. So much time is lost in this country in drug trials and trying to protect everyone. I believe patients should be able to make an informed decision after receiving available info. Sure, the FDA serves a purpose and helps protect patients but it also delays life saving meds due to red tape and ‘compelling evidence’ arguments.

  3. Carolyn Marie Keeney // August 23, 2013 at 1:31 pm

    My son is 11yrs old and has MPS II. For the last three and a half years, I have been watching a select few of my friends take their boys to be given this drug. A drug that my child was deemed to sick to be given. I have sat back and cried as these few friends tell their miraculous stories of not just stability, but improvement. I cry while I watch their children flourish, as my child grows more and more weary. I cry as my son endures surgeries that this drug could have prevented the need for. And I cry because I feel like what I am asking for is something so simple that I don’t understand why my cries go unanswered. All I want for my son is to have a fighting chance at doing something that other kids all over the world get to do every day… I want to give him a fighting chance to grow up… and I will accept the risk involved with that. When comparing the options of doing nothing and and ending up with: progressive and traumatic health problems; chronic pain; seeing my son go from a vibrant, active, loving little boy to a sedate, check out from the world, shell of a person; and certain death at a startling young age… OR taking a chance on a promising, though still young and “experimental” drug with many longer term unknown for side affects… I will take my chances and say please let him have this drug!!!

    • I feel the exact same way,my son is 11 too, its so hard to hear the success of the drug. and so unfair ,yet its hope,mine is sadly fading xx

  4. There isn’t anything I wouldn’t do or try to do for one of my kids. I am oh so thankful that they are both healthy and do not have to fight for every bit of medicine that could help them. I am fortunate that when Myles needs a refill on his prescription, I just call up the doctor and I either have to pop in for a check up or run down to Walgreens for a refill. I can’t imagine the hoops that these mothers and their boys have to go through to get the medicine that is so clearly helping. The improvements I see in Case are amazing. His motor skills have improved, his speech has improved…I could go on and on. Anyone who is able to take this drug should be allowed the opportunity for it.

  5. My son has hunters too,we are in Ireland. I see him every day loosing skills…I’d give my life so he could have a chance at his.

  6. I had heard about mps a long time ago ,I never met anyone with it until case .I met case 1 and 1/2 years ago at school were I took a job to be his aide. I will never forget that first meeting with case ,I met him at the car rider line and I had to hold on to him with both hands as I got him out of the car he was trying to run to the door, back to the car, kiss his mom goodbye ,open the door and get back in tripping twice as I am still holding his hand with both of mine along with his back pack, and everything else he brought.. This wasn’t a five min period of time it was all at once He was Everywere !! Jump forward to this summer I had the pleasure of taking care of case and yes he is still very active what 6 year old boy isn’t but at the same time there is a calm he was able to go for walks with me not runs ,and focus on one thing at a time for a much longer time .I just don’t understand why more kids cant get help whose to say it wouldn’t work ,you can only say that if you try and as a parent it is our job to try everything shouldn’t it also be the drug companys job!!!! I pray for case and all the children will get the meds they need ..

  7. Carolyn Marie Keeney // August 24, 2013 at 7:07 am

    Several years ago I heard a question asked from a room of research doctors to a panel of MPS parents: What mortality rate on a drug would be an acceptable risk for you to still pursue getting this treatment for your child? And what percent would make you say “No thank you. Science has brought us this far, so I will hold on and wait.”

    The answer that was given and that I believe ring the most true is “It depends”.

    It depends on how old my child is when you ask me in comparison to his life expectancy. It depends on how severely my child is currently affected (which, in part, goes with how old they are). It depends how early in diagnosis we are, and how much exposure I have had to other children of this disease. Lets face it… you can read what will happen to your child, but TRULY seeing the impact it has on other children in person and getting that glimpse of your child’s future is… I don’t even have words to describe what that is.

  8. MatthewsMommy // August 24, 2013 at 9:22 pm

    I am a mother frog in waiting. I want to see my son have a chance to do the things that other children do. To play like they play. To be able to take him places and not always live in fear of him running or hurting himself or others. I want to hear my child’s voice…one word, I would be satisfied with ONE single word. I don’t even care what word it is. Just a word so that I know what his voice sounds like!! I would love to see him gain simple skills that others take for granted. Using a spoon/fork, learning colors, shapes, letters, and numbers. Or at least to keep the few skills that he was able to obtain before this horrible disease started to take ahold of his brain. I would love my son to just “simply” hug me as opposed to hug me and slap me upside my head to show his affection for me…LOL
    When I hear the words 3-5 years concerning this trial, my stomach gets sick. Matthew turns 5 next month and is in the severe category of this disease. 3-5 years sounds like a lifetime to me, its 3-5 years that my son does not have!!!

    So, would I give my child something that “could” hurt him in the long run or “could” help save his life, without knowing for sure which it is? I would do it in a heartbeat. What do I have to lose. My son already has a death sentence, there is no “could” about it. Without some type of treatment my son is going to die.

    I would do anything to save Matthew.