From Eteplirsen to Exondys51: One Journey

This post was originally published as Regarding the May 26th Eteplirsen Decision. It’s been edited with key updates below, but the basic structure remains (minus some of the impassioned plea) even though the decision has been made:

On April 25, 2016, the FDA Advisory Committee met with the Duchenne Muscular Dystrophy (DMD) community to discuss eteplirsen, a drug in clinical trials which addresses a very specific segment (exon 51) of the DMD population, regarding accelerated approval.  The FDA (was) scheduled to make its final ruling on accelerated approval on May 26th; I am writing to support universal availability of eteplirsen.

What I know:

  • Most people only pay attention to things that directly affect them. After years of watching the Jerry Lewis MDA telethon, I assumed progress in the treatment/drugs for those affected.  Not true.  After decades of research, the drug that most US MD patients are given is prednisone. What does this do?  Reduces inflammation, stunts growth, promotes weight gain, and makes bones extremely fragile and prone to breaking.  It does not address root causes, major symptomatology, or delay the disease in any way, shape, or form.
  • Muscular Dystrophy, as a category, is composed of many different neuromuscular diseases, which is part of the difficulty in finding effective treatments due to the huge variability within strains.
  • Even within Duchenne, it depends on which deletion the child has that determines the rate and severity of the disease.
  • Doctors take the Hippocratic Oath stating they will “Do No Harm.”
  • The FDA was formed to protect the general US population from anything that could cause harm or death.
  • DMD is a death sentence to everyone who has it; it is the deadliest form of MD which eventually affects all voluntary muscles, including the heart and lungs in its late stages.  Life expectancy is currently estimated up to 25, but many kids die in their late teens to early twenties.
  • There needs to be a new drug approval process created for fatal diseases, because the original intent/purpose of the FDA becomes irrelevant in these cases.
  • Random sampling is a market research and clinical method of eliminating bias so that a small group accurately represents a larger population, from which conclusions can be drawn.  In the case of disease, God is the random sampler.
  • Clinical trials always contain a control/placebo group.  For fatal diseases, this is tantamount to cruel and unusual punishment.

What I don’t know:

  • Why the FDA’s focus is on the small sample size rather than the stringent study criteria which created that small n/base?
  • Why the FDA has yet to approve a drug for DMD specifically, and the majority of MD diseases in general?  Does it make sense there are more drugs for ED than MD?
  • Why the FDA doesn’t recognize the need for an improved process when dealing with drugs targeting fatal diseases?

Why I care:

Andrew as Rochester MDA Ambassador

Andrew as Rochester MDA Ambassador

In 2003, my sister’s grandson through marriage (step-daughter is his biological mother) was diagnosed with DMD on his sixth birthday.  Here’s a picture of Andrew (red shorts) in 2004 when he was the local Rochester MDA Ambassador, with a group of DMD boys.  At this point, he can walk, run and do everything an average six-year-old can do, but with less strength.  The only thing that identifies him as a DMD kid are his large calves, which are a DMD marker (most families don’t know before diagnosis).

Christopher and Andrew walking together

Christopher and Andrew walking together

Andrew and his older brother Christopher, who does not have DMD, walking together in 2004 (photo on right).  DMD is either passed on from the mother or can be a spontaneous genetic mutation.  In Andrew’s case, his mom had no way of knowing she was a genetic carrier.  She was an only child.  Her mom came from a large family, but none of her maternal uncles or cousins have DMD.  Her dad was one of two children, did not have DMD, and his sister never had kids.

In 2008, Andrew went to Florida on a “Make A Wish” trip – here’s a photo of him and Christopher playing in a hot tub.  At this point, he’s in a wheelchair, but has full use of his torso, arms, hands, etc.

Andrew and Christopher playing in FL on "Make A Wish" trip

Andrew and Christopher playing in FL on “Make A Wish” trip


My sister built a wheelchair accessible home, and in 2008 retired early to become his full-time care taker.  Andrew lives with her, and his parents spend weekends with him.  She’s worked with Greece Central Schools so that he can receive a mainstream education. Andrew has acted in school plays, been the manager of the Greece Thunder hockey team, tweeted game scores until he couldn’t do it anymore, announced games, etc.  He’s been as active in high school as he possibly can be.  His parents, avid hockey fans, and season ticket holders for the Amerks, Knighthawks, and Rhinos, take him to most Rochester weekend games.

Andrew with some of the Greece Thunder Hockey team members.

Andrew with some of the Greece Thunder Hockey team members at a MDA event.


Andrew is now 18 years old and graduating from Greece Athena High School in June.  This is a major achievement – only a minority of DMD kids graduate from a mainstream school.  My sister has enrolled him in clinical trials; a few years ago they traveled to Columbus for a drug trial.  She has applied for every stage of the eteplirsen trials over the past five years, but Andrew has consistently been denied due to his lack of mobility. This is frustrating and maddening, because this drug represents the hope he could maintain use of his hands and possibly regain some arm use.

On May 5, Andrew was inducted into the Greece Youth Hall of Fame. He said to his grandmother, “Nana, I don’t know why I was included; most of those kids had a parent die … I have my parents and you.”  He doesn’t recognize the strength, courage, and determination it has taken for him to do what able-bodied kids take for granted.  He’s been on honor roll the majority of his middle/high school career.

Photos from his Youth Hall of Fame induction:

2016 Greece Youth Hall of Fame Poster

2016 Greece Youth Hall of Fame Poster

Andrew with his mom, dad, and nana

Andrew with his mom, dad, and nana

Here’s what I know for sure:  No parent ever wants to lose their child.  It doesn’t matter if that child is 5 months in utero, 5 days old, 5 years old, 15 or 50 years old.  No parent wants to outlive their child; it’s a universal law of nature.  This universal truth should not require explanation.  Pat Furlong, the founder of the Parent Project Muscular Dystrophy, who lost two sons to DMD, harnessed her grief to help other DMD families.

As a market research manager, I understand the need for testing rigor. As a human being, I understand the need for a compromise in fatal disease cases. Proposal: Open the drug up to the entire population who may be able to benefit from it. Then track results by age, by dosage, any other data point you want:  weight, mobility, location, etc.  The FDA’s main premise (was) that the study’s base (or n) is too small. This is disrespectful to the hundreds of DMD kids like Andrew who repeatedly tried to join this trial but were unsuccessful because they’re ‘not ambulatory enough.’

When it comes to Andrew, we do not expect him to walk again. We want him to take eteplirsen to keep mobility in his hands and keep his heart and lungs strong.  It would be a miracle if he regained use of his arms enough to feed himself and shake someone’s hand.

Andrew and Christopher with Rick Jeanneret, Sabres announcer

Andrew and Christopher with Rick Jeanneret, Sabres announcer

Andrew would make a great hockey announcer. He’s grown up watching it (his brother has always played), has a great voice, and is passionate about the game.  When I told my sister she was pressuring him too much about going to college full-time, her reply cut through me: “What am I supposed to do, Karen?  Should I tell Andrew, ‘Ok, you’ve graduated HS. Now it’s OK for you wait around to die.’?”

So FDA, I ask you: What are DMD families supposed to do?  Should we just sit around and wait for our children to die?

The late, great Maya Angelou said, “When you know better, you do better.”  Doctors, researchers, and families have provided all there is to know; it’s time for the FDA to do better.

Andrew, this is my post for you, and for all of the DMD boys before and after you.  Little Boi, I love you so much. ❤ ❤ ❤

Updates since May 22,2016:

1.  On May 25th, the FDA informed Sarepta, the pharmaceutical company producing eteplirsen, as well as the Australian researchers who developed the drug, they would be delaying their approval decision.

2. Andrew graduated from Greece Athena High School on June 24, 2016.  Here’s a photo of us:

Andrew and me 6/24/2016

Before his HS graduation on 6/24/2016

3.  Andrew started attending Monroe Community College on September 6, 2016.

4.  The FDA Approved Eteplirsen on September 19, 2016.

5.  My sister immediately began applying for Andrew to receive the drug.  He was denied by Excellus BC/BS twice since he is not ambulatory (same reason he was denied trials).  She appealed that decision twice, raising it up to NYS Appeals Committee.

6.  Andrew turned 19 on October 16th, 2016.

7.  On January 20, 2017, at 5:30 p.m. I opened my Facebook app to find Andrew’s post below. Immediately called my sister, who received notification from NYS that day they were reversing Excellus’ decision:



8.  On January 28, 2017, Andrew received his approval letter from Excellus BC/BS.

9.  Today is my sister’s birthday! ❤  Andrew’s first infusion of Exondys51 scheduled for 2/9/2017 was delayed because he needs a port.  Andrew and my sister have fought the good fight, and he finally has the opportunity to receive the drug.  The rest is up to God.

10.  Sincere thanks to everyone who’s helped Andrew on his journey; there have been so many.  Special thanks to Rebecca Leclair of WHEC TV, who has regularly covered his story.

One of the DMD boys who participated in clinical trials has also been denied coverage by his insurance company.  Please sign his petition requesting approval.


2 Comments on “From Eteplirsen to Exondys51: One Journey”

  1. says:

    beautifully written and profoundly sobering in its implications.

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