On April 25, 2016, the FDA Advisory Committee (Adcom) 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 by the FDA. Originally scheduled in January, a huge snowstorm hit DC so the day long event was cancelled at the last minute and many attendees had to travel back to DC in April. This Center for Duchenne Muscular Dystrophy at UCLA video does an excellent job summarizing the issue and is worth watching. The FDA will make its final ruling on accelerated approval on May 26th; I am writing to support universal availability of eteplirsen.
My ex-husband used to joke I’m not a doctor and don’t even play one on TV. He’s right, of course, but here’s what I do 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 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 (linked here), 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 to anyone that 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 it’s become a debate about emotion vs. science?
Why I care:
In 2003, my sister’s grandson through marriage (her step-daughter is his biological mother) was diagnosed with DMD on his sixth birthday. Here’s a picture of Andrew (in 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 (which our family did not know before his diagnosis).
On the right is a photo of Andrew and his older brother Christopher, who does not have DMD, walking together in 2004. 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 (can no longer walk), 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 four years, but Andrew has consistently been denied due to his lack of mobility. This is hard / frustrating / maddening, because this drug represents the hope he could maintain use of his hands and possibly regain some arm use. (He hasn’t been able to feed himself for over a year.)
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, determination, and tenacity 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.
Recent photos from his Youth Hall of Fame induction:
As his aunt, it’s very hard for me to understand why this has become a debate about emotion vs. science. The drug has proven effective for the kids who have been on it, with no ill side effects. It’s insulting to read about “emotional DMD families.” I wonder if the same was said of the mothers who created Mothers Against Drunk Driving (MADD), who ended up changing DUI laws? Did the same people tell Nancy G. Brinker, sister of Susan G. Komen, who started her foundation to fight breast cancer after her sister died, that she was just being emotional? Pat Furlong, the founder of the Parent Project Muscular Dystrophy, who lost two sons to DMD, harnessed her grief to help other DMD families.
Oprah has a column in her magazine called, “What I Know For Sure.” 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. I’ve been in a hospice room with a 76-year-old father crying over his 47-year-old daughter’s dead body after a long battle with breast cancer. I’ve received a voice mail from a 70 something year old mother (a survivor herself), informing me her 47-year-old daughter lost her battle with breast cancer. This universal truth should not require explanation. Calling DMD families “emotional” is unacceptable. Many families aren’t lucky enough to have someone like my sister who can devote their life to the cause – for most, both parents work and care for other children, while caring for a DMD child.
As a market research manager, I understand the need for testing rigor. As a human being, I understand the need for a compromise in all fatal disease cases like this. My proposal:
- Have lawyers create an agreement whereby a DMD family (or DMD adult over 18) can sign to relinquish the right of holding any prescribing physician, participating hospital, pharmaceutical company, or the FDA, from responsibility for any harm incurred during a clinical trial. There are lawyers who create pre-nups, NDAs, golden parachutes, and hush-hush agreements; surely there’s a legal way for families or people to say, “I will not sue you if you let my child (me) take this drug and harm comes to him (me).” Particularly for the DMD population over 14, after which age many kids begin to die.
- Create a universal trial for everyone with this DMD deletion without any mobility criteria. Every state would have at least one participating hospital so people don’t have to travel out-of-state. The kids eight and under get the 30 or 50 mg dosage. Larger and older boys get a 75 to 100 mg dosage. The control group becomes the segment taking the original 30 or 50 mg dosage; the higher dosage group becomes the test group. It seems, from my limited vantage point, trial participation criteria has been way too stringent given this is a known fatal disease.
- Open the drug, which has shown improvement and caused no ill side effects, up to the entire population who may be able to benefit from it. Then track results by age, by dosage, by any other data point you want: weight, mobility, location, etc. What would be the harm? The FDA’s main premise is that the study’s base (or n) is too small. This is disrespectful to the hundreds of DMD kids who have tried repeatedly to join this trial but have been unsuccessful because they’re ‘not ambulatory enough.’ If the FDA wants a larger sample size, the DMD community is ready, willing, and able to provide it. The benefit would be to provide plenty of data to confirm, without a doubt, eteplirsen helps create dystrophin and maintain mobility longer across all groups, while giving the current DMD population benefits starting right now.
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. It would be a miracle if he regained use of his arms enough to feed himself and shake someone’s hand. Had it been available in 2003, he would not be where he is today.
A few months ago, my sister and I were talking about Andrew going to college. He 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 visit, he’s often on YouTube and will say, “Aunt Karen, come watch this sick hit!” 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 to lie in bed and wait 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.❤❤❤
Update: 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. No date has been established for that decision.
Prologue: In July 2011, I was talking with a woman about social media at a networking event when I asked, “Are you @FamilyFoodie?” Her eyes flew open wide and she replied, “Yes! How did you know?” I answered, “I don’t know (because her Twitter image was a chef’s hat then), but I follow you.” Her eyes got even bigger and she asked, “You DO?” I replied, “Yes, you have like 7K Twitter followers!” (She was a local Tampa Twitter rock star imho.) She said, “I know.” “So what are you doing here?” I asked. She looked at me quizzically. Later I remarked, “Think you’ve found your next thing with Family Foodie.” No truer words were spoken. In 2011 she started familyfoodie.com. In 2012, she created an army of bloggers ready to work with food brands to bring families back around the #SundaySupper dinner table via SundaySupperMovement.com. In 2013, she launched her very first Food and Wine Conference. That is tremendous growth (and hard work!) in a very short time, especially while raising four kids. Missed the first #FWCon while moving back home. Missed last year because of other commitments, too, but really wanted to go after seeing all the food in my Facebook newsfeed! So July 17-19, I went, I saw, I Instagrammed/Facebooked/Tweeted, I ate, I learned and I grew!
What is the Food and Wine Conference? To quote the website: “The Food and Wine Conference brings together bloggers, small business owners, winemakers, chefs, PR professionals, traditional media, new media, authors and brands.” For what? To talk about (and eat!) food & wine, to discuss what they’re doing and how they’re doing it, to create road maps for success, and ultimately to work together in win-win scenarios. It’s a beautiful thing.
Speaking of beautiful, Rosen Shingle Creek Resort is that and much more. Have you ever heard if you’re doing the right thing everything will just serendipitously fall into place? One day Isabel and her best friend Lou Anne went there for lunch, they met Mr. Harris Rosen, and a beautiful business relationship was born. It is a stunningly gorgeous conference center and resort, with top-notch chefs, and it’s an absolutely perfect setting for #FWCon! Their customer service is excellent.
Here’s a fun Good Day Orlando video taken Friday morning before the conference, which shows just a few of the goodies we experienced over the weekend.
The food. The wine. Bring an eating buddy! You just can’t eat it all, and it is *ALL SO GOOD!* One thing I learned: Get your food first, talk later. I spent too much time talking Friday night and missed yummy things I wanted to try!
Saturday was jammed packed. The opening Keynote: “Everything is Subject to Change” was about how life and careers are a journey where one thing definitely leads to another, especially in retrospective. Think of your own and you’ll connect the dots between people and places and how one leads to the next.
If you think bloggers are just “little women who love food and want a part-time job” then the session with Liz Latham from Hoosier Homemade and Stephanie Parker from Plain Chicken might change your mind. Liz and her husband both quit their FT corporate jobs to work the blog, which fully supports their family. Liz and Stephanie discussed the need to create a LLC for your blog, work with lawyers to trademark your logo, use Quickbooks, and covered all financial aspects of running a successful blogging business.
Lunch was sponsored by Wisconsin Cheese and Idaho Potato: *POUTINE* in four different varieties!! Here’s when I discovered I needed an eating buddy. #FirstWorldFoodieProblem: I want to try everything, can’t eat three lunches, and hate wasting food!
My two favorite sessions after lunch were panels. The first was brands discussing working with bloggers. The brand reps really impressed me with their honesty: “Please don’t send me a pitch telling me how great your blog aligns with our Beef brand, but then I can’t find one blog post with beef in the recipe, but do find “I hate hamburger” in your ‘About’ section.” (News flash: Hamburger is beef!) They were as down-to-earth as the bloggers, and very real about their connection to their product, their audience, and their bloggers. I learned not all brands are created equal when it comes to bloggers: Some use them as an extension of their marketing team, others use them sparingly. It’s all about finding ones that best fits you and your blog.
My other favorite panel was Eat.Travel.Blog.Business, which was a panel of travel bloggers. Sounds heavenly, right? To travel about, eat, stay at beautiful places, post and write about it? It’s a lot more work than you think and not really just lounging by the pool with a cool drink! Ann Tran, who was a part of the social media panel, recently tweeted “How to Make $150K as a Travel Blogger” which drives the point home that blogging can be “a real job.”
After a very fun live rendition of “The Price is Right” with Saucy Queen Michele Northrup, we had a bit of time before dinner.
Ah, dinner. Nothing says you’re about to dine well like multiple wine glasses lined up at your place setting! After food all day (most of it not shown here), we sat down to a family style dinner of Certified Angus Beef with roasted garlic, asparagus, collards, fingerling potatoes and the most heavenly whipped sweet potatoes. Here’s a photo of my first plate. (Yep, you read that right!) Later, I just spread the roasted garlic like butter on top of the beef. #PleaseSirCanIHaveMore While I enjoyed all three of the Hess Collection wines, the Hess Treo really stood out and was scrumptious with the beef. #YesPlease [Wait, is there a job where you get paid to be a professional eater? I may have that one covered hands down!] I didn’t have room for dessert, so enjoyed watching folks do the Idaho Potato Spuds singing game while being taped, which was hysterical fun. But when the blogger I roomed with told me Rosen had made the top two winning recipes from the Dixie Crystals blogging contest for dessert and I missed Tiramisu, one would think I hadn’t eaten all day! I was truly sad. #FirstWorldFoodieProblems
Sunday was at the Rosen College of Hospitality Management, right next to their resort. The sessions were like classes, where you picked from four for any given time period. The problem? Some sessions I wanted to go to three of the four! I ended up in the Cheese & Wine Pairing sponsored by Cabot and Hess Collections. Thought I already knew a lot about cheese; I was wrong. Did you know cheese is graded in some of the same terms as wine is (acidity, fruitiness, etc.)? And that different cheeses with different wines can make one or the other taste really bad? I learned that and a lot more.
My other favorite session on Sunday was sponsored by Certified Angus Beef, where we saw a live demo with Chef Michael Ollier and got some great advice on preparing beef. #1 tip: Do not cut meat while cooking to see if it’s done! Use a meat thermometer to reach the desired state of doneness (130 before resting for medium rare). Another great tip is to sear both sides quickly to seal in juices, and then finish cooking slowly.
I loved my three days at the 2015 Food and Wine Conference! Why? Because I saw people sharing best business practices, learning a great deal about food and wine, and celebrating their entrepreneurship, regardless of where they are in the journey. Learned I really need to up my photography game if I ever want to make money from a blog! What a lot of people don’t realize about blogging is you have to know and do everything: from web technology/platforms, to social media, to marketing, finances & accounting, and everything in between. If you want to learn how, and talk to people who are doing it, then plan to attend the 2016 Food and Wine Conference because you will meet them, and they will share their secret recipes! I met some truly wonderful people at #FWCon … Foodies are great people!!
Isabel asked, “What was your favorite quote from #FWCon?” Both of mine came from @SaucyQueen: After “Johnny” told every Price Is Right winner what they won, Michele added, “And a bottle of hot sauce!” (Did I mention I love me some hot sauce?) She also said, “The best advice I can give you is if you have a good idea, ‘Don’t Hesitate!'” Sound advice for life! Bon Appetit🙂
My Facebook Food And Wine Conference Photo Album.
The complete 2015 schedule.
January 30th Small Stone
Watching Idol tonight I was reminded
why I love that show so much
when Nicki Minaj said,
“All of the stars aligned to bring you here in front of us.”
Truth is, none of us knows if
that email, that phone call, that tweet
blog post, book, song, audition, smile
or chance meeting,
will open the door to our dreams.
Yes, America, Idol or not,
we are still the land of Opportunity!
January 28th Small Stone
Looking at the pictures,
the truth leaks out
He’s truly going to miss her.
She, ever the Good Wife,
will continue to stand by her man.
But in her heart she knows
he loves her;
and recognizes it for the gift it is.
All around the world,
truth is stranger than fiction.
January 26th Small Stone
Walking the beach
the sand cold and damp under my feet,
the sun shining on the gentle rippling waves,
kids playing on the beach and in the surf,
people sitting, walking, fishing, talking,
a pelican dives down into the water.
I stop and wait to watch him
tilt his head back and swallow the fish.
Everything he needs is there.
People splashing in the cold water,
seagulls squealing in the background.
I turn back around
as the sun starts to sink.
I am one with everything and everyone;
standing, sitting, watching, walking,
kayakers silently waiting in the water,
all facing due west, gazing
as the sun goes lower.
Everyone at reverent attention
on my beach altar,
We stand and watch it sink,
pink with purple haze,
Walking back, I come upon
people standing at the water’s edge
facing the set sun,
a man and woman playing guitar and singing.
They sound so beautiful
it makes me cry for some reason.
Everyone praying in their own way.
I watch as we all leave