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:
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).
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.
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 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:
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 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:
3. Andrew started attending Monroe Community College on September 6, 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.
January 16th Small Stone
Waiting in line at the Costco pharmacy a long time, feeling the impatience of customers and stress of employees, the woman at the register was still kind to me. I’d transferred a prescription from CVS after they raised the price again … “Could you please step to the other window to fill out some paperwork?” At the new window I asked the woman if they were short staffed and we started small talking about seasonality, snowbirds and cost structures, when she said, “The address we have for you is Marymont Place.” I laughed and said, “That was 1996 – 1998.” She replied, “I lived in San Diego then too.” We both agreed that San Diego was freaking gorgeous and freaking expensive and chatted about which Coscto we shopped at then. She commented, “I raised my kids there; we were in Oceanside.” I asked if her husband was in the military at Camp Pendleton and she said, “We were together 25 years, went to our Jr. and Sr. proms together, raised our kids, I thought it was great and he goes and falls in love with someone else.” She still looked relatively young, so I could tell they had been together since 15 or 16. Then she started telling me about the other woman and how two of her kids followed their father’s footsteps in the Marines and send her pictures of places they lived while growing up there asking, “Remember when we lived here Mom?” I told her she looked great, landed on her feet and to stay strong: “It wasn’t about you; it was about him.” She replied, “Thanks for the pep talk. You know, I try not to let it change me, but … but it leaves a residue.” All I could say is, “Yes, it does.”
Waiting in the grocery check out, I wondered how many women who’ve been divorced for years still wonder why they weren’t enough? Good enough? And blame themselves?
Walking out of Costco knowing I saved money (always a good thing), I noticed some residue around my eyes and wondered if broken hearts heal stronger like broken bones do? Or is there always the residue of fracture?
January 3rd Small Stone
Sipping my hot dark roast
morning coffee in this ancient mug
a gift for a promotion long ago –
still so hopeful –
always reminds me of you;
your face, big green eyes that day in the cafeteria line.
I’m grateful ~
grateful for the hope,
grateful for the confidence,
grateful for your grace.
It reminds me we never know
what gifts will hold meaning
or when’s the last time we’ll see someone.
I hope Lindsay, Ross and Emily
have something like this mug
that brings you back to them.
I pray they have your grace.
Monday night on Oprah’s Lifeclass Tour ‘Living with Purpose‘ Bishop T.D. Jakes said, “So many of us have some sort of shame or guilt because we don’t fit into the stereotypical ideal situation that we would like to be birthed into, but that only points to how important it was that we got here.” Oprah reiterated the story of her birth: her parents were teenagers, were together once, she was born unwanted to a teenage mother in Mississippi, her grandmother raised her until she was 6, then she was sent up north to live with her mother, who then sent her to live with her father in Tennessee when she was 14 and pregnant (unconsciously repeating the past). Her son was born and died shortly afterwards. Her father told her she had been given a second lease on life. Ultimately, the feelings generated from her childhood are what led Oprah to her purpose: to help people tell their stories so that everyone can “know for sure” that no matter what, we are all worthy of love and just worthy period. Or to paraphrase her during the May 2011 series finale, “I came into this world feeling unwanted and unloved, but I have found that love a million times over through you, my audience.” Much of the ‘Living With Purpose’ show is about finding ways to forgive your past while allowing it to fuel your passion to find your purpose/calling.
What’s ironic is I was literally writing this blog post in my head right before watching Lifeclass since I’d recently returned from my father’s funeral. My dad died March 27 around midnight. He was 80 and had smoked since he was 10, so it wasn’t surprising. He started not feeling well Saturday night and died on Tuesday night, which is a Godsend versus suffering from cancer. My dad was a very unique individual. I liken him to Don Draper on Mad Men, only without the Madison Avenue job/salary and he didn’t really come back after he left. My parents had 7 children (photo of my parents and four older siblings at my aunt’s wedding; she made the photo boards for my dad’s service), of which I’m #5 or ‘the youngest of the first family and the oldest of the second family’ as I describe it. My dad left when I was 2, returned when I was 6 and left again when I was 14. Within months of my dad leaving, my oldest sister got married, my oldest brother went to college, and the third oldest moved out, which quickly pared us down from a family of 9 to a family of 5. My mom worked nights and I helped raise my younger brother and sister. Obviously this affected my life in many ways, on many levels. I didn’t really see much of my dad for a very long time. After I went through my divorce, I knew I needed to heal my relationship with my father. I moved back home and when my brother in FL, who remained closest to our dad, would visit, the three of us would go out to eat. It was as an adult woman, who’d worked, lived in various parts of the country and been through a marriage and divorce, that I could actually see my father and the gifts that he’d given me minus my expectations as a child. They are many: my height, hair color, eyes, body type are all from my dad’s side; his intelligence and love of reading; and his willingness to delve deep into the mysteries of life. When we were kids, our dad used to take us out searching for UFOs. We didn’t go to church; I didn’t even realize what that meant until I was 12, eating lunch in school with friends when they looked at me in horror because I wasn’t getting confirmed. (I had myself baptized a little over ten years ago.) Ironically, while my brother was closest to him, he was uncomfortable with our discussions about God, the ten spiritual dimensions, life after death, etc. But it was through these discussions that I realized it was my dad’s insistence on ‘coloring outside the lines’ that gave me permission to follow my own metaphysical leanings. I took him out to dinner in October 2009, right before moving to Florida, and he told me about the woman in his life, the mother of his first child before his marriage to my mom. I knew as I drove away that night it would be the last time I saw him alive. His funeral, where I got to see many relatives, was very healing for all who attended. Many of us spoke, including me, but my favorite was my maternal Uncle Gene who said, “Larry, all is forgiven.” On the way to Rochester, I started rereading Caroline Myss’ book “Defy Gravity: Healing Beyond the Bounds of Reason.” I’d given it to my sister for her birthday two years ago and then reclaimed it six months later to read and still hadn’t finished it. In that book, she writes about forgiveness and how our ego blocks us from it even when it’s what our soul craves. She writes in the context of healing anything that stops us in our tracks: illness; death of a spouse, child, parent (anyone extremely close); divorce; job loss/career crisis; or a catastrophic event like 2011’s tsunami and record-breaking tornadoes. Basically anything that makes you think of your life in terms of ‘before xyz’ and ‘after xyz’ usually contains an opportunity for forgiveness. It is by accepting that it happened (not accepting as in “that’s cool, dude,” but accepting as in understanding you can not change it) and forgiving those involved that allow us to heal and move forward. Caroline tells the story of an adult son raised by an alcoholic mother; he only remembered her passed out on the couch, left home and had nothing to do with her for over a decade, but after he got cancer realized it was his anger at his mother that caused his ‘dis-ease.’ Don Draper’s character in Mad Men shows how severe wounding as a child can cause such dissonance in a person that it’s often their search ‘for the salve to the wound’ that hurts others. Or as Betty asked him when they divorced, “Why wasn’t I enough for you?” Caroline Myss points out that it’s often our desire to know WHY and our refusal to accept that our life hasn’t gone ‘according to plan’ that can do as much damage as the event itself. The truth is as we go along we realize it often has more to do with the person who hurt us than with who we are. It’s not that you weren’t smart enough, pretty enough, loveable enough (fill in the blank of whatever you think you weren’t enough of); it has to do with whatever issues the other person carries.
What’s interesting about forgiveness is you know when you have, and you can feel when others haven’t. In the Lifeclass linked above, it’s very easy to tell who has and who hasn’t forgiven. In talking to the people affected by my dad’s death I could tell the difference. Even my Twitter feed is full of tweets about forgiveness from Deepak Chopra and others. What I know for sure is this: It’s true what they say, “Forgiveness frees you!” Speaking of Deepak, he and Bishop Jakes, Iyanla Vanzant and Tony Robbins will be on Oprah’s Lifeclass dedicated to forgiveness tomorrow night, 4/16.
So who, or what event(s) in your life, do you need to forgive?
Two weeks ago I was watching TV and playing Words With Friends with my sister when she messaged, “Sh*t, did you see Whitney Houston died?” I immediately jumped into Twitter and sadly my stream confirmed yes, Whitney Houston died. Piers Morgan tweeted he was on his way into the studio, so I turned to CNN. Piers had Simon Cowell on, who I often thought was too harsh on Idol, but who was extremely sensitive regarding Whitney. Simon echoed my sentiment that it was “due to the people Whitney had surrounded herself with” (he never said Bobby Brown, but it was clear). He summarized with, “If you’re in the entertainment industry, it’s very important to surround yourself with good people.”
The week between Whitney’s death and funeral I watched the Grammys, where Jennifer Hudson did a beautiful tribute, DVRed a couple of Piers’ shows and the ABC 20/20 special, and read news articles trying to come to terms with “why” and how I felt.
Piers had Chaka Khan on and asked, “Is it fair to blame Bobby Brown for Whitney’s addiction?” She, and the Broadway star who followed, talked about themselves in response to his question. It was strange, but then I realized it was survivors’ guilt. Both mentioned the proliferation of drugs in the industry; Chaka is a recovering addict and the other woman said, “I do Broadway; we work long hours everyday.” Survivors guilt isn’t just for veterans. It’s also for people who’ve battled cancer and live when others die. It’s for people who watch their friends get laid off while they still have jobs at the same company. It’s for people who’ve been up against the same drug infested industry and manage to live as friends they love die. All of the famous singers, musicians and actors who’ve suffered and died from drug addiction flashed before me. As did ‘My Week with Marilyn,’ Lindsay Lohan, Charlie Sheen, etc. My judgement against Bobby began to lessen; realizing this is really a huge problem at the heart of the entertainment industry, not just an ‘individual’ problem.
BeBe Winans, on another Piers show, said her death was a surprise because “there had been deeper valleys we had come through.” I had seen the two-part Whitney special Oprah did a few years ago and understood. That was when I learned Whitney damaged her voice by smoking cocaine laced pot. It was just so sad; I’d hoped she could return to herself after she divorced Bobby … it was clear she was trying very hard to do just that.
I saw Whitney in concert in 1991. Research says music and smell bring memories rushing back to us. Whenever I hear “So Emotional” I think of Joe, who I was in love with when the Whitney CD released. It’s how music makes us feel that bonds us to singers. In reality, it’s strange for people to “love” singers, actors, or sports stars we’ve never met, but we do because of the way they make us feel. That’s why we care about them.
“Fame just means millions of people don’t know who you really are” is a quote I’ve seen on Twitter, but anyone who watched Whitney’s “homegoing” ceremony knows who she really was. It was one of the most beautiful funeral services I’ve ever witnessed, not because of the celebrities, but because of the *love* there. Every person who spoke added something special; here’s what touched my heart:
Bishop T.D. Jakes thanked Whitney’s family for sharing her with the world. It was a powerful reminder that she was a daughter, mother, sister, cousin … not just a famous singer. “Death has not won because Love is Stronger than Death.”
Gospel singer Kim Burrell’s remake of “A Change Gonna Come.”
Kevin Costner spoke of Whitney’s fears and insecurities. It’s hard to fathom how a beautiful woman with such an amazing voice could feel “not good enough,” but that’s our imperfection as human beings. Rather than suggesting “celebrities are just like us,” Kevin’s speech made me feel that truth to my core.
Alicia Keys sang “Send Me An Angel.” Her heartfelt performance summoned angels to escort Whitney home, declared her an angel and brought angels to surround everyone watching.
Clive Davis’ tribute to Whitney was pure love. He opened by sharing he lost both parents as a teenager, looking directly at Bobbi Kristina, inferring, ‘Honey, you’ll make it through this.’ His love for Whitney was reflected in his concern for Bobbi Kristina, whom he addressed twice. Perhaps Clive was Whitney’s greatest love of all (men). He was with her from 18 to 48; longer than Bobby Brown, longer than her dad. But beyond years, Clive was the one who brought out the best in Whitney and that’s what great love does.
Stevie Wonder’s remake of Ribbon in the Sky, as well as his admission he had a crush on her. (Yes, celebrities are just like us.)
There were other great speakers and singers; Tyler Perry speaking about her love for the Lord and Donnie McClurkin singing ‘Stand’ immediately come to mind. By the end of the service I was at peace; acceptance; resolved. Resolved to the point where the cause of Whitney’s death no longer mattered.
To those who’ve made disparaging remarks about her drug addiction, I ask you: when people eat themselves into obesity and die from diabetes or heart related problems, do you vilify them? Do you condemn those who smoke and die from lung cancer or heart disease? Those who drink and die from liver disease? Judge not, lest ye be judged. ~ St. Matthew, Chapter 7, New Testament
What I know for sure is that death is hardest on the living. So I forgive Bobby Brown; even his leaving the church. It would be nice if CNN sent him a DVD of the entire ceremony, it will help him process his grief.
My prayers go out to Cissy, Dionne and Clive, all in their seventies and all strengthened by wisdom learned from living a long life. It’s Bobbi Kristina, the 18 yr old girl who revolved around her mother’s sun, who needs a lot of prayer and support. She needs to go to a wellness center for a month. After, it would be really nice if people like Jordin Sparks, Jennifer Hudson, Alicia Keys, Mariah Carey could reach out and give her a hand up. Cissy and Whitney both began as back-up singers, maybe Kristina could too. She needs examples of successful women who have good love and babies in their lives … she needs role models to learn how to do it for herself.
And Simon, we *all* need to surround ourselves with good people. Godspeed Whitney. We love you.
I was heartbroken before 9/11. My marriage fell apart the month before. I was living in San Diego, which of course is three hours behind East Coast time. So on the morning of Tuesday, September 11th, 2001, I was pouring coffee when the phone rang. My routine is to get a cup of coffee or tea and head to the PC, that’s how I start my day. When I answered the phone, it was my older brother, who was quite upset. I remember asking, “What’s the matter?” to which he screamed, “We’re being attacked!” I looked out the kitchen window of my beautiful golf course home in rural NE San Diego county and everything looked serene, like always. So I naïvely replied, “No we’re not; calm down.” Finally he said, “Turn on the TV!” Then it became crystal clear.
So I watched CNN for three days, crying. It was a combination of disbelief, shock and powerlessness. There was nothing I could do to change it. All I could do was cry. For the families of the World Trade Center, life completely changed within a matter of minutes. That happened to me three times in the two years leading up to 9/11; I knew how it felt.
My brother who called started out at NYU. He actually worked in the WTC for a while. So he drove down from Rochester a few days later to see it himself. He described it as a war zone. Even though it was emergency personnel only, he got in and talked to people. He spent the weekend and when he called me the next week, he said, “You could feel the souls of all the people still there. It was so quiet and sacred; even amidst the chaos and rubble.” He also mentioned the terrible stench, which we’ve later found out was toxic and has taken the lives of some of the first responders.
Fast forward to 2009: In a Publix grocery store line I read the December 2009 Time Magazine headline “The Decade from Hell” and burst out laughing; loudly. As Joni sang, “laughing & crying; it’s the same release.” The guy in front of me turned around and asked, “What are you laughing about?” and I just pointed to the magazine. He said, “Oh, it’s really not been that bad except the past couple of years.” I looked at him and said, “Seriously? 9/11, the tsunami, Katrina, the economic collapse? I’ve already called it the ‘Decade from Hell’ myself! Combine all of that with any personal losses and it truly has been.” Bought the magazine just to read that article; wanted to see their take on it because I already knew mine.
Everyone knows the cliché, “Time heals all wounds.” Time does heal, but there are some wounds that never totally heal. This really hit home the Sunday night Twitter announced that Osama Bin Laden had been killed. To say the Twitterverse was jubilant is an understatement; but it was the rush and outpouring of emotion that made me realize how strongly people still felt. Yes, time had passed. Yes, we’ve all moved on. But that night on Twitter made me realize just how deep the wound truly goes.
In the buildup to the 10th anniversary this week I saw a headline, “Reliving 9/11.” Personally, I have no desire to relive it! I want to pay tribute. When I prayed for the souls lost this a.m., I prayed not only for the 3,000 lost 9/11/01, which included people from all over the world, but for all the souls lost since then because of that day. That number is quite astounding; depending on the source it’s anywhere from 100,000 to one million plus. http://antiwar.com/casualties/ http://en.wikipedia.org/wiki/Casualties_of_the_Iraq_War Between Iraq and Afghanistan it’s completely possible it’s one million plus when you add in civilian casualties; an unbelievable number of lives lost because of four planes. But it’s not just the dead. This year on Oprah I saw a mother whose only child died in the war; he was young. They filmed her going to his grave in Arlington and reading his favorite childhood book to him, which she did often. The woman’s grief was palpable. She clearly had not healed. I was crying and said out loud to the TV, “Start a group for people who’ve lost their kids! Go read to real, living children who could benefit! Don’t just sit there! He doesn’t want you sitting there crying at his grave!” So when you factor in all the loved ones around the world who’ve mourned those who’ve lost their lives, it’s definitely in the millions.
What do you think the souls who’ve passed would say to U.S. if they could? Here’s what I think they’d say: Never forget, but forgive. Stay Strong. Please stop fighting. Please do not hate an entire group of people because of a few. Please stop fighting among yourselves and work to make America better. Do not take life for granted. I love you. Never Give Up!
May all the souls who perished 9/11/01, and since then in Iraq and Afghanistan in the name of 9/11, rest in peace! ❤