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:

APPROVAL GRANTED

APPROVAL GRANTED

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 Change.org petition requesting approval.

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Karen The Bus Monitor

I was home last week to help one of my sisters post-surgery.  My family lives in Greece, a suburb of Rochester, NY.  I graduated from Greece Arcadia and have nieces and nephews who attend Arcadia and Athena.  My last night home (6/29) we were all together and I asked everyone what they thought about the bullying incident with the bus monitor from Greece Athena.  Our conversation really surprised me!

The first surprising thing is how personal it got.  One sister’s BFF since childhood (basically another sister) worked at Arcadia in the main office this year and actually fielded calls from people (peeps in ROC know the difference between the schools, but people calling from around the country didn’t know and didn’t care).  She said people were very rude and nasty.  Apparently the group Anonymous sent death threats.  (Dude, threatening to kill someone over bullying is bullying to the 100th degree, isn’t it?)  My other sister was involved with the Greece Athena Middle School PTA this past year.  She has a disabled grandson attending Athena, so she joined the PTA to smooth the way for him (and others in wheelchairs) to receive the best mainstream education possible.  She was in the hospital when the story broke and received 1300 emails in one day.  And some people knew the kids or parents.  So it wasn’t an ideological discussion; it got very personal, very quickly.  My perspective was global; bullying is a major problem now and the amount of money donated to that vacation fund tells just how much the video struck a chord.

The second surprise was the amount of anger around the event, the large sum of money donated, and the role social media played, which was accompanied by an underlying embarrassment.  After listening I said, “The core issue has nothing to do with Karen Klein.  She didn’t do it, video it, post it, or create the vacation account.  The money doesn’t matter.  The issue is that the kids didn’t have a sense that it was wrong; someone actually videoed it and posted it online!  Don’t they have a conscience telling them what’s right and wrong?”

Which lead to the third surprise:  “Oh, come on, Kar, don’t you remember bullying in middle school?”  Actually, I don’t.  Walked to school K – 6 and took the bus 7 – 12.  Sat in the first half of the bus and if I wasn’t talking to someone, I had my nose in a book.  (Pretty much had my nose in a book whenever possible from eight to seventeen.)  And I was always one of the tallest kids in class until high school.  I probably got teased more at home!  So no, I don’t remember bullying at school.  Thank God!  But the “I don’t condone it, but middle schoolers will be middle schoolers” attitude riled me.

When my 20 yr. old nephew came home with two friends, I asked, “Dudes, what do you think about the bus monitor situation?”  His 19 yr. old friend replied, “Really? Still?”  I was surprised he was as ‘over it’ as the adults were!  “Seriously, I want to know what you think:  Is this typical ‘middle school bullying?'”  The 21 yr. old friend replied, “I was a real turd in middle school, but I never would have done that.”  The consensus from the teens/newly twenties was it was unacceptable and not what they experienced in middle school.

Clearly bullying is not just a Greece Athena problem!  Ever watch Glee?  My BFF in Denver has a very talented son who didn’t act in any plays one year because of bullying.  Someone from Rochester tweeted this Bob Lonsberry blog post from a parent; also with the comment he couldn’t believe this was still in the news.  (Clearly everyone in the ROC just wants it to go away!)  Here’s a teacher’s response; easy to spot the divide in perspectives.

Regarding Karen Klein, I read she complained as a bus driver to the district about bullies and nothing changed.  It was very close to the last day of school.  Who knows if she heard everything the kids said; the article linked to her name above indicates she has hearing problems.  Or she could have acted as a decoy.  I don’t know why she just sat there.  It would be very appropriate for her to donate some of the ~$700K she’ll receive to Greece Athena Middle School for an anti-bullying program ($100K?) and to speak once a year.  That would be giving back after receiving so generously while doing something positive for the school and kids.

Why is bullying such a big issue now?  Who’s responsible?  How can we fix it?  Potential solutions:

Parents:  Have to set expectations with their kids they will show respect to everyone, teach behavioral boundaries and teach tolerance.  Kids don’t have to like or trust everyone, but they have to show everyone respect regardless of differences.

Schools / Principals:  Have to issue a Code of Conduct (rules of behavior) that get reviewed with all students at the beginning of each school year, to which they sign and are held accountable.  Need to consider hiring security guards for buildings and buses.

Teachers, Counselors, Bus Drivers (adults who work for the school district and interact with students):  Have to report any students who do not follow the established code of conduct.  Simply put, the adults have to protect all students, plain and simple.

Students:  Have to stand up for themselves and others and tell people if they are being bullied or witness it.

No matter when you went to school, bullying is different now and has increased teen suicide rates.  Everyone must fight it … because it could be your child.  This story out of Japan (who’s been portrayed as infinitely more respectful and disciplined than U.S.) should shake you out of any remaining lethargy.

What do you think?  Have you talked to your kids about bullying?


My Family’s Thanksgiving

Thanksgiving has been my favorite holiday since I was a kid.  Maybe it’s because my birthday always falls near it.  Maybe it’s because from kindergarten through college we had vacation.  Maybe it’s because it’s just about family, food and giving thanks.  I’ve always done my best to have Thanksgiving week off from everything just to spend time with family and friends.

When I lived on the West Coast, I would fly home in time to cook with my sister Marci the Wednesday night before.  At first it was just my sister, her BFF Jill and me.  But over the years our Wednesday night cooking parties grew; especially after my sister and her husband moved into their new neighborhood.  Then it became a couple’s party as well as a cooking event, with lots of drinking and talking; a Thanksgiving Eve party.  Pizza and wings, lots of wine and beer and cooking.  My brother-in-law has been known to make shots after the cooking is done too:)

The day/night before Thanksgiving:  Marci makes a myriad of pies during the day and peels potatoes.  At night we make butternut squash, cube the bread for stuffing, chop & sauté onions & celery in butter and poultry seasoning so the stuffing is ready to mix together in the morning.  More desserts; Marci and Jill usually make Caramel Apple Cheesecakes too.  And whatever else is on the agenda for that year or didn’t get done earlier.  My family has an excel spreadsheet for Thanksgiving; it’s serious business:)

This year I was lucky enough to be home and our entire family (in Rochester) was at my sister’s house for Thanksgiving Eve as well as Jill’s family; it was quite the crew!  We prepped the Brussel sprouts too.  Our  mom has a Brussel sprout dish she makes that everyone loves, but she was out-of-state so my brother made them (recipe below).  Coming from 7 kids, our immediate family’s Thanksgiving is around 16 – 18 people, but this year was only 13.  We always cook for an army, because there’s a tradition of sending everyone home with leftovers.  Seriously.

On Thanksgiving we eat around 3 p.m.; sit down, say grace and then everyone makes their own plate.  This year we made the mistake of saying grace in the kitchen before everything was completely ready to go and like Pavlov’s dogs, everyone dug in anyway.  My sister, our hostess, wasn’t pleased and may have made a comment about vultures complete with expletives.  But, hey, it’s Thanksgiving!  Here’s a picture of some of us and the island full of food (not including stuff by/on the stove):

After we eat dinner, pack up food, and clean up the kitchen, then we do desserts after 6 p.m.   Here’s a photo of Marci with her chocolate cream, cherry, pumpkin and banana cream pies, along with an eclair cake and caramel apple cheesecake she made.  Our sister Marlene added pumpkin bread pudding to the mix.  Yes, after turkey, mashed potatoes, stuffing, gravy, butternut squash, brussel sprouts, green bean casserole, sweet potatoes, cranberry and rolls.  This year Marci also made creamed onions, which our mom used to make when we were kids and I love.  I know everyone loves food, but our family really loves food!

This has been our Thanksgiving tradition for the past couple of decades.  Why do I love it?  The tradition of cooking and eating all that great food?  Yes, but also just to be together and be grateful; to give thanks we’re still here and together … despite whatever challenges life throws our way.  Marci, who with her husband Frank has hosted our family’s Thanksgiving for the past decade, declared Thanksgiving night that she wasn’t doing it next year!  She and her family are going on a cruise.  But what I know about “Sarge in Charge” is after a year off, she’ll be back at it; she likes making those pies way too much to give it up altogether! ❤

Mom’s Brussel Sprouts

Brussel sprouts (based on number of people you’re serving; we use 8 lbs for Thanksgiving.  Yes, 8 lbs:)

fresh minced garlic

butter

Italian bread crumbs

Grated Romano / Parmesan Cheese

Wash & trim sprouts and boil until soft.  Mom boils, my brother steams & I’ve microwaved, but for this dish boiling really does work best.  Drain (keep broth for a vegetable stock).  Add butter and fresh minced garlic and stir.  Stir in bread crumbs and grated cheese.  You can make the night before if you want and reheat; Mom always makes them that day and brings her big pot over to my sister’s.  They rock and, believe it or not, are always the first to go when everyone is there.

Butternut Squash

squash

butter

salt & pepper

I love this squash; it’s my favorite.  Used to do the work of peeling it, but the oil in it discolors my hands and makes my skin tight.  The easiest way to prepare is to wash, cut off the ends, cut in half lengthwise, scoop out the seeds and place cut side down on a baking tray.  Add water until 1/2″ up on the squash, bake at 350 for an hour or until a fork inserts easily.  Once cooled a bit, scoop squash into a large glass bowl.  Using a hand mixer, beat with butter, salt & pepper.  Can be microwaved or reheated in oven the next day.  Sounds incredibly plain, but is really incredibly yummy!

I thank God for my big family (3 sisters and 3 brothers), our abundant Thanksgivings and all the blessings we do have, in spite of life’s challenges!


11 Balloons ~ Love in the Sky

My family had a big party on June 18th.  I come from seven kids so we were celebrating a nephew’s 19th birthday, a niece’s Sweet 16, another nephew’s high school graduation & 18th birthday and Father’s Day.  These events cascade over two weeks but we combined them into one big celebration for out-of-towners like me:)  My sisters had it catered and there was sun, blue skies, lots of great food, and people everywhere; inside, outside, downstairs, in the pool, in the garage … eating, drinking, talking, catching up, playing Wii bowling in one room and Call of Duty in another, watching movies and swimming.

After the buffet and a princess cake, cookie-brownie-star cake, a chocolate cream pie, and lots of ice cream, the 19 yr old opened his gifts.  He & his girlfriend were headed to a concert, so we took a break from gift opening to release balloons in memory of his grandpa and my brother-in-law.  Known as Pa to some and Dudley to others (after Dudley Do-Right), he died from glioblastoma multiforme (GBM) brain cancer on 6/18/00; my nephew’s 8th birthday and Father’s Day.  The man who loved family, golf, a beautiful home, a fine wine, a gourmet meal, who was an awesome cook whom I credit as one my best teachers (he called me his ‘kitchen nudge’), who was the cornerstone of my sister’s life and a father figure to me, passed away after a two-year battle with cancer.  We released balloons at his memorial service and have every year since.

My sister handed out the balloons, said her memorial, cried and I cried too.  After, I said softly, “We love you Dudley.  Please provide (my sister, your daughter and grandsons) with guidance and love.”  We released eleven helium filled balloons, one for each year since he passed, and C let his birthday balloon go too.  We watched as they ascended into the sky; I took some pictures and after they were fairly high, went into the house to get a Kleenex.  When I came out, people were saying, “Look, they’re in the shape of a heart!”  I thought, ‘What? No they’re not.’  They were so high in the sky I was having difficulty finding them.  My sister said, “They’re right there.”  Once I saw them, I said, “OMG, they really are in the shape of a heart!”  I couldn’t believe it.  As I was registering it, someone said, “Look, now it’s a ‘D!'”  I looked up to see the balloons in a “D” formation.  It was if he was saying, “Heart (I Love You), D (Dudley).”  I was shocked.  Me, the one who says that we can talk to our loved ones who’ve passed over and that they can still hear us; that they still love and guide us.  I kept looking up at the sky and then at everyone else, as if it were proof we were all seeing the same thing.  It seemed like, well, like a miracle.  Those balloons in the shape of a heart and then in a D renewed my faith in love.  We were sending our love up to him from my sister’s yard via balloons, and he was beaming his love back down to us.  As we went back inside for the kids to open more gifts, everything seemed right.  I knew Dudley felt our love and I felt his.  It was an incredible highlight to a great week at home where I visited lots of family, old friends and work peeps; each one reminding me how we touch each others’ lives in truly amazing ways.

I spent the entire plane ride back to Tampa yesterday morning thinking about the week, balloons, love and grief.  If we love people and they die, but they still love us and we still love them, then what has changed spiritually?  Why are we so sad … for years sometimes?  Here’s where I landed:  No matter if you lose a spouse/partner, parent, child, sibling, friend ~ anyone you love (or even a marriage or a job), stop wishing it never happened or thinking there’s something you could have done to change it or ‘done better.’  The cure for grief is to be compassionate and share love now; with family, friends, co-workers, a new partner, whomever seems right.  What we really miss is the connection, so we have to keep forging new connections.  A friend’s mom used to say, “All you need to be happy is something to do, someone to love and something to look forward to.”  But God doesn’t promise it will always be the same person to love or the same thing to do.  Such is life.  So we go on loving and supporting the people we care about the best we can, because in the end, all we take with us is the love we’ve shared.