PATIENTS
ARE
WAITING...
Messages from Duchenne Muscular Dystrophy Families to the FDA
The FDA’s job is to make important and often challenging
decisions that determine access to potential treatments.
Many of these decisions rely on qualitative assessments
that are based on quantitate data, balancing patient need
and opportunity, speed and certainty, and benets and
risks. In some cases it may be simple for FDA experts to
imagine what is in the best interest of the end user.
But in cases of rare, progressive diseases that are 100%
fatal, it is a serious challenge for those who haven’t
“lived it” to anticipate the best interests of patients
and families. Here, the Duchenne and Becker muscular
dystrophy community provides some answers that are as
impassioned and important as the community itself.
A program of:
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To collect meaningful information from a broad
group of people and caregivers managing Duchenne
muscular dystrophy (Duchenne) and to advance
the development of new treatments, Parent Project
Muscular Dystrophy (PPMD) launched the Benet/
Risk in Duchenne Therapies program in late 2012.
The goal is to inform the FDA and other government
agencies, as well as biopharmaceutical companies
about the priorities and risk tolerance of the
Duchenne community.
Duchenne families often feel as if the FDA is an
untouchable and unreachable group of professionals
tasked with making critical decisions on potential
drugs. In order to bridge that gap, PPMD’s Benet/
Risk Program includes:
1. A rigorous rst-of-its kind benet risk study, that
produced data on treatment preferences and risk
tolerance using stated-preferences methods, and
2. “Share Your Story,” an open-ended survey that
allowed parents and patients to speak frankly to the
FDA.
Objectives and Methods
The program objective is to share stories from the
community with the FDA and other stakeholders to
help them better understand the perspectives of
Duchenne families. Using an online, open-ended
survey implemented on the Parent Project Muscular
Dystrophy website, we asked families, “If you had
a chance to talk to the FDA, what would you want
them to know?” No further prompts were given to
participants. The responses were publically available,
so participants could read previous entries before
posting their own comments.
We developed a codebook of recurring themes and
coded each story individually. We then identied
major and supporting themes from the entire set of
stories and chose representative quotations. Readers
should keep in mind that, based on the open-ended
nature of the question posed, one might not expect
extremely high concordance among stories that were
spontaneously generated (without prompts).
Results
163 people participated in Share Your Story—a mix of
individuals with Duchenne, parents of individuals with
Duchenne, brothers and sisters, uncles and aunts, and
grandparents. Quotations and stories are included
from families who consented to their information
being shared with the FDA and others.
Major Themes
Participants had several key messages that they
listed as the most important things they wanted to
communicate to FDA leadership.
BURDEN OF DUCHENNE
Reported by >90% of participants
The most common theme reected on the burden
of managing Duchenne, on patients, caregivers, the
family, and the broader community. Specic burdens
include progressive loss of function and ability to
participate for the patients; anticipating further
disease progression and a short lifespan; impact
on caregivers, siblings, and other relatives; and
“PATIENTS ARE
WAITING…”
Messages from Duchenne Muscular Dystrophy Families to the FDA
Data is vitally important to inform the FDA’s benet-risk
assessments. But nothing can replace the impact of
sharing family stories of their experiences of living with
Duchenne muscular dystrophy.
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need for treatments, services, and supports that
are unavailable. Representations of the burden of
Duchenne can be found in the full stories provided at
the end of this document.
URGENT NEED
Reported by 78% of participants
The large majority of participants described an
urgent need based on time running out for us/
our children. Under that theme, many participants
expressed a compelling, immediate need for access
to clinical trials and new treatment options.
INCREASED FLEXIBILITY
Reported by 62% of participants
To meet the urgent need for new treatment
options, more than half of the participants urged
the FDA, sponsors, and other stakeholders to come
together and facilitate a faster, more exible drug
development and approval process. This major
theme includes requests to harmonize efforts
between U.S. and other regulatory bodies to allow
“All of us as parents know what the outcome
is if we don’t try something. I beg you to
fast track drugs and treatments through the
Duchenne pipeline. Time is something our
boys do not have.”
“Because DMD shortens the life span of
those aficted, I would encourage the FDA
to consider being more aggressive with the
approval of certain drugs where the benets
include quality of life and life span. Some
families welcome the risks that may come
with treatments, feeling that doing something
is better than just waiting for their child to
deteriorate and die.”
“We hear each tick of the clock very loudly in
our heads, worried that science will take too
long to develop a treatment that will slow/
eliminate the progression. Our bigger worry
is that science will develop it and the FDA will
take too long to approve it.”
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access to all people with Duchenne, regardless of
where they live.
EXPANDED ACCESS
Reported by 48% of participants
About half of the participants requested expanded
access to experimental and off-label drugs for any
Duchenne muscular dystrophy patient who chooses
to use the drug. This major theme included a desire
for sponsors and regulators to be more inclusive of a
broader range of patients in clinical trials.
RISK TOLERANCE
Reported by 28% of participants
Many participants communicated that some risk is
tolerable and individuals should have a choice.
These participants were willing to accept risk for
access to drugs, even experimental or off-label drugs.
Parents expressed that they should be in control of
decisions made for their children. Several expressed
frustration that decisions regarding acceptable levels
of risk are in the hands of FDA scientists who do not
understand their lived experience.
HOPE FOR A BETTER FUTURE
Reported by 24% of participants
From a positive perspective, about a quarter of
participants expressed that they have hope for a
better future because of current and future clinical
trials.
“Unfortunately, we don’t see the FDA as an
organization that protects us from harmful
products/treatments, but we see them as an
obstacle to progress. An obstacle to treatment
being developed in time for my son, so that
he does not become a statistic of lives lost to
DMD.”
“Simply put, we don’t have years to wait. While
I understand the need for FDA approval, and
the concerns over possible risks and side
effects - we aren’t overly concerned with what
these drugs could potentially do to our boys in
the future. Without the medications, these boys
have no future.”
“One aspect of this process I nd most
challenging is the limitation and regular
exclusion of non ambulant individuals. My
sons were willing participants and may have
been ideal candidates for other studies, yet
they were ineligible because they were unable
to complete a six minute timed walking test
used as a primary outcome measure. This
narrow thinking is unacceptable as it excludes a
signicant number of patients and barring any
progress in therapy, all ambulant patients will
lose the ability to walk.”
“When it comes to terminal illnesses [the
FDA’s] job should be to make sure a product is
safe and that the risks and benets presented
by the producer are accurate. Our job should
be to determine, given all that information,
whether to give it to our children. It is an
intensely personal decision that involves the
parents and the child with Duchenne.”
“He is dying anyways, what other choice do I
have as a parent then let him take a drug that
hasn’t been through the rig-a-roll of getting
years of research? We as DMD parents have no
options. It’s die or die trying...”
“But there is now hope for our boys with
Duchenne, hope for a brighter future. Research
is starting to show results, more drugs are
being developed to treat Duchenne. With more
potential drugs there is more hope that my son
and hundreds of other young men like him, will
live full and rewarding lives standing on their
own two feet.”
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Left Waiting
Like many parents have, I’ll start by giving my son’s
age. Miles is 6 years old and in 1st grade. The
signicance of age is obvious to all of us. It is a critical
marker of where he is in a journey with a tragic arc,
where every day, month and year counts. Miles is a
happy kid. At 6, he is able to walk and play, participate
in most activities at school and at home, dress himself,
travel, ride the bus and swim in the ocean. That’s not
to say he doesn’t have challenges - he has a cognitive
delay, has never been able to run or jump, and is now
old enough to start to feel the difference between
his abilities and those of other kids. Still, life is sweet,
for now. I believe that is partly because as parents
we have striven to convey a sense of optimism and
excitement in life. As every child should, he is growing
up with expectation of a bright future. I wish we could
freeze time and stay in our current reality forever.
That brings me to what I dread. Miles doesn’t yet
know that in many ways, life is (may be?) better now
than it will ever be for him again. I dread the day that
brutal reality sinks in to his consciousness-just the
recognition of inevitable, brutal, crushing decline and
loss of abilities feels unbearable. I would do almost
anything to prevent or postpone that moment of
terrible recognition. But, I know that without help,
it’s coming-maybe in a year or two. Each day that
passes will see him lose a little more of his capability,
mobility, stamina. My heart goes out to all the parents
who have sat with their child through that horrible
moment or series of small realizations that amount
to the same. I know that wouldn’t be the end - life
and hope and joy would still go on. And, I know this
is an old story that keeps repeating itself in family
after family. Now we can break that cycle. Thanks to
the incredible breakthroughs in medical research,
we can change the story for many of our boys! There
is hope for a much brighter future... miraculously
there but maddeningly just out of our reach. Miles is
incredibly lucky to have an exon deletion that makes
him a candidate for 2 potential competing drugs
that are in trial. He was in one of the potential drugs
early trials on a low dose arm. Everyone, not just his
parents but researchers, family and friends, saw him
get stronger with the drug. For the rst time in his
life, he was running and (almost) jumping. We believe
it also affected his learning - while we can’t be 100%
sure of the cause, during the trial his language skills
made a big jump. It was a wonderful time of hope
and progress. It’s been over 6 months since the trial
ended. He hasn’t jumped or run since, and seems
more tired than he did then. We understand the
questions about efcacy of this potential drug but
we sincerely believe that this happened. Miles would
also be a candidate for the other potential drug. We
are ready to go wherever and whenever we need to
get it for him. We would drop our jobs, sell our house,
move to another country. Because we know what will
happen if he doesn’t get the medication, we know
STORIES
Out of the hundreds of stories, we chose several that seemed to reect the most
common sentiments.
MILES, 6 years old
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it’s terrible, we know every passing day is a closed
door. And we’re just like all the parents with kids in
this position. Every day that we delay costs our sons.
Sure, my son can hang on for a year, he’ll probably
still be walking in 2 or 3. Longer? Well, we understand
what abilities he will lose - it’s the natural progression
of DMD. FDA, I AM BEGGING YOU TO MAKE THE
TREATMENTS AVAILABLE AS QUICKLY AND AS
WIDELY AS POSSIBLE! CHANGE THE PROTOCOLS.
BE FLEXIBLE. MAKE THIS HAPPEN. We can’t wait. I’d
like to hear from the FDA what parents and advocacy
groups can do to provide the cover and support they
need to alter their standard approach. Thank you,
Elliott Barnett
Race Against Time
My name is Mindy Cameron and my son Christopher
was diagnosed with Duchenne in 2003 when he
was two years old. He does not have one of the
more common gene mutations and his disease is
progressing very typically, according to what we
know from Duchenne natural history. I nd that we
often hear of the boys who defy the natural history
of Duchenne. We marvel at the young men who still
walk at age 17 and beyond, we talk of 30 somethings
who hold down jobs and even have families, we get
so excited about boys who are able to drive or go to
college. But those boys are not typical. The reality is
that most boys continue to lose ambulation around
age 12 and die in their early 20s. My son will be 13 in
July 2014 and he lost what little ambulation he had
been able to hang on to about a month ago when
he fell and broke his leg. It has been a devastating
transition for our family, even though we are trying to
hide the pain and focus on all of the new freedoms
that he has in his power wheelchair. In truth, I hate the
power wheelchair and everything that it represents.
I know that we are now in the second of what is
described as the three phases of Duchenne. I know
that permanent seating brings on a host of health
CHRISTOPHER, 12 years old
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complications, like contractures and scoliosis and
weight gain and increased heart rate and decreased
pulmonary function. He is 12 years old. He should
be running and growing and instead he is changing
seating positions and using the standing function on
his power chair. He is lifted onto the toilet and unable
to get into his best friend’s house because they have
steps. He is sitting on the railroad tracks and the train
is coming full speed ahead. I am one of those parents
who have tried anything and everything to keep a
step ahead of Duchenne and now I feel like I have
lost a 10-year ght. The expensive supplements and
medications, the physical therapy sessions for which
insurance won’t pay, and the night time routines that
I subject my son to have made no difference in the
relentless pace of his condition. His growth is stunted
and his behavior has been affected by the toxic
steroids that I’ve given him since he was 3-years-old
and he struggles socially because of it. I feel like a
failure as a parent for putting him through it all for
what feels like nothing. The only interventions that we
have for Duchenne are nowhere near good enough.
We need to develop and approve treatments in the
absolute fastest way possible. The FDA needs to
use every means available to get help to these boys.
The Duchenne community has been very assertive
in expressing its willingness to take risks in light of
the absolute horric nature of this disease with no
good treatment options. We are currently waiting
for an FDA decision about the rst exon skipping
therapies for some Duchenne boys. These rst drugs
may not be perfect and our means to demonstrate
their effectiveness may be incomplete, but these
rst drugs give every indication of effectiveness and
they should be given the green light while we work
on improvements. You cannot get back what this
disease takes from boys every day. The loss of a step
in a timed test indicates something much much more
than loss of function. It is death itself and it is coming
for these boys at an insidious pace. I beg the FDA to
intervene and act quickly for these children. We pay
close attention to what is given priority review and
accelerated approval and breakthrough status. We
are at a loss as to why our boys do not seem to be
a priority, when we have some incredibly promising
technologies that could transform this disease. Maybe
it is too late for my Christopher, but I still hold onto
hope that it is not.
Willing to Accept Risk, Hope for
Exon Skipping
My son, Elijah, is 9 years old. His favorite thing to
do is help me in the kitchen. He particularly enjoys
baking. Other things he likes to do include dancing,
drawing, and crafts. When he was four years old, he
was diagnosed with DMD. As the diagnosis was not
new to me; I was devastated. I knew that it was a slow
death sentence. I have a family history and watched
my brother, David, slowly lose muscle strength. This
began with the legs, then progressed to all the other
muscles in the body, his body deteriorated before my
very eyes, and then nally his heart muscle failed at
the age of 18. I know that without a viable therapy, I
will slowly lose my son to this devastating diagnosis.
As the disease progresses, he will no longer be
able to complete basic daily living skills, much less
do his favorite activities. Helping his mother make
cookies will become a distant memory. If there is a
treatment out there that can help children with this
diagnosis, slow the course, and give them a chance
to live longer, fuller lives it needs to be approved and
utilized. The drug, [drug name], cannot help my son
specically. But it should be utilized to help as many
boys (and girls) as it possibly can benet to slow the
progression of this disease and give them a chance. In
addition, follow along exon skipping therapies need
to be given swift trials and approval. My son could
specically be helped and given more time to live
with a skip of exon 53. Our children don’t have the
time for placebo trials. Natural history of this disease
has already been studied. As a parent, I am willing to
accept risks that could come with these treatments.
While my son and a large amount of the Duchenne
population can be helped with exon skipping
ELIJAH, 9 years old
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therapies, there are others our with other genetic
abnormalities causing DMD such as duplications,
splices, and point mutations. We cannot ignore these
boys (and girls) either. Treatments for all are needed.
Two Sons, Twice the Heartache
While many of my son’s middle school friends are
just rolling in from practice, its a typical night at my
house. Bed time starts no later than 7:00 for my two
sons with DMD. Kevin is 13 and Kyle is 9. Their friends
grab a snack or start their homework but my boys
aren’t strong enough to get drinks out of the fridge
or pick up their own backpacks. Just like their friends,
our home is full of laughter (boys will be boys) but
between the requests for help to get on the toilet, off
the toilet, showering, dressing, picking up anything
that might have fallen to the ground, stretching 2 sets
of tight heel cords and quad muscles then putting
on leg splints, and hooking up BiPap machines, there
isn’t much time for goong around. I need to keep
them focused because this bedtime routine is long
enough. Bedtime wraps up about 9:30 with helping
the boys get positioned in their beds. It never dawned
on me that they would get to the point where not only
would they need help getting comfortable in bed,
but also would call me every time they needed to roll
over during the night. It is so tiring for me, but who
am I kidding, my sons exhaust themselves every time
they walk to the bathroom. Last week as I helped,
Kevin, my 13 year old son get into bed he moved his
arm to hold my hand and told me its getting harder
to use his arms now. He asked me, “Someday is it
going to get too hard for me to wave to my friends?”
I told him probably. He cried and I held his hand and
I hugged him. No mother should have to comfort her
son like that. I know in a short while I will be going
through this same scenario with his little brother. No
mother should ever have to do it twice. Kevin has said
he would do anything to nd a cure for DMD and I
believe him. He prays every night at dinner for a cure.
He and his brother don’t even inch as they endure
blood draws, MRIs, and skin biopsies as part of clinical
trials. These boys are brave but they get are getting
tired. They are too young to be getting tired. They are
truly heroes.
Back of the Bus
Duchenne Muscular Dystrophy, you have rocked our
world! We were given this beautiful baby boy to love,
cherish, and enjoy him for many years. Instead, you
have taken over our wonderful young man. You did
not even hold out for a little while. From birth you
were there interrupting his life. You did not allow him
to run, jump, skip, nor all the other fun things a child
should enjoy. How do you answer a child when he
asks the questions: “Why” “Will I ever” “How bad,
is bad enough” “What will I do when I am older?”
As the parent, you know the answers are not good
at all. Then add all the extra things in there that are
difcult for a teenage boy to comprehend, such as,
taking him to the bathroom, getting him dressed,
giving him baths, brushing his teeth, rolling him over
every couple of hours during the night, etc. Some of
the worst symptoms for us are: contractions, heart
problems, seizures, pressure sores, and many more.
All of the symptoms just lead to more problems such
as constipation, numbness in feet and legs, scoliosis,
loss of strength including neck. Imagine your 14
year old being held like a newborn because he does
not have the neck muscles to support his head. As
for therapies, WE the families do more than any
outside source. We ght for our son’s to live, move,
breathe, eat, sleep, and to live normal lives on a daily
basis. We need your help! We want a cure! Our boys
deserve more than prednisone! They deserve the
opportunity to get up and move! We need more trials
for all different stages of DMD. Our son has NEVER
qualied. It appears that when the child has severe
DMD he is written off as a lose, lose situation. He is
KYLE, 9 years old; KEVIN, 13 years old
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our win, win! He lights up our world. We want him with
us for many years to come! Please help!!
Progression of Duchenne
It can happen to anyone. Duchenne knows no
borders of geography or ethnicity. My beautiful
boy had trouble walking, getting off the oor. He
never crawled. Doctors assured me “He’ll grow out
of it.” My son’s physical abilities peaked at 7, but he
frequently fell even at a young age. His body could
never keep up with his dreams and desires. It was with
bittersweet relief when he broke his ankle at 10 and
stopped walking. That’s right. I WANTED my boy to
use a wheelchair. NO MORE FALLING. Whenever I
wish for life without a wheelchair, I simply look back
to when my child would spontaneously crumple to
the ground, unable to catch himself and slam his face
onto the pavement, carpet, or his own feet. The horror
of not being fast enough to catch your child, and
then living your sons agony with him as he cries out in
frustration that his body WON’T DO WHAT HE NEEDS
IT TO. While I live in this “honeymoon phase” of my
son’s relatively good health, I’m constantly aware that
his heart may give, he may not recover from a simple
u. The likely hood of dying young stands in stark
contrast to my son’s lust for life and adventure. Dying
happens to us all, there’s no denying that. But within
that reality, if given a choice for my son? It would not
be drowning in his own uids. It would not be from
his heart giving out as a young man. It would be after
meeting his grandchildren and living a long, happy
life. A life where he could choose independence
from his parents, and where his body doesn’t give
out from lack of vitality, but from many, many years of
use. We struggle with strength. As my son grows, his
weight makes it difcult for transfers... to the toilet,
to the bed, to an airplane seat for travel. He has so
many dreams to go places, and I agonize over the
day when his doctors tell us he must have rods fused
to his spine to maintain his breathing capacity. With
that operation will go his ability to hop on a plane
and visit family. With each procedure he is likely to
become more isolated from his peers. My social boy
who loves to interact with people of all ages becomes
more and more alone. My son’s type of Duchenne is
rare. There can be no hope for him if a drug found
safe and effective and benets a large portion of
the Duchenne community cannot be approved.
Blocking the progress of this drug’s availability will
dissuade researchers from continuing the search to
help all Duchenne patients. It is maddening that after
50 years there is nally an effective medicine that
helps stave off the inevitable decline of this vicious
disease for a decent percentage of those effected,
and it’s progress is being stonewalled. It is simply
unacceptable. It is unconscionable.
JORDAN, 14 years old
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Exon Skipping as a Class
Dear FDA, Our son was diagnosed just 5 years ago
at age 9. We consider our family to be lucky because
in the past 5 years Duchenne has only taken away
our son’s walking, standing, dressing and bathroom
independence. So far we have managed these things.
We are also lucky because in the past 5 years we’ve
only had to purchase (out of pocket), one manual
chair for travel, one power chair, one ceiling mounted
lift, one freestanding lift for travel, one mini-van with
turning seat and lift, one mini-van with manual ramp
and lockdown element, one-one story house with
wide doorways and halls, a couple of doorway ramps
and one suitcase ramp for travel. Not sure how, but
we have managed these things as well. We are also
lucky to be ghting Duchenne in the past 5 years
since there are many excellent scientists working
internationally to nd ways to treat everyone with
Duchenne. We are doing our part to make things
work for all our sons. Now it’s your turn. Approve
Exon Skipping as a “class” instead of making each
and every exon skipping compound go through
years and years of individual clinical trials. Approving
exon skipping as a “class” may not be risk free but
under the circumstances it is still the right thing to
do. Do the right thing so we can have a realistic
hope that our son(s) will live long enough to see
regenerative medicine. Do the right thing so they will
have the chance to stand, walk, dress or bathroom
independently. Do the right thing because if you were
in my shoes, you’d want the same thing for your own
son. They deserve nothing less. Thank You.
Need to Look at Duchenne Differently
than Other Diseases
I want the FDA to know that as a mother with a child
with Duchenne, we are desperate for any treatment
that can help our son to be stronger or live longer.
We have a different requirement for safety and trials
of the medications/treatments. This is not a regular
disease. Drugs should always be fast tracked. There
needs to be a different set of requirements. This is
imperative for our family’s well-being.
Three Sons with Duchenne in One Family
My name is Betty Vertin. I live in Hastings, NE with
my husband and ve children. We have a 12 year old
daughter Lexi and 4 sons; they are Max, 8, Chance,
6, Rowen, 5, and Charlie, 3. In July of 2010, when I
was just 10 weeks pregnant with our youngest, our
son Max was diagnosed with Duchenne. In a matter
of minutes a specialist told us what no parents ever
want to hear: that our son would be wheelchair bound
by 9, need our help with activities of daily living as
a teenager, and would die before his 20th birthday.
We woke up that morning with a beautiful healthy
son and went to bed that night grieving the loss of a
son that would come too soon. In the course of the
next year, Rowen and Charlie were given the same
fatal diagnosis. We believe, or at least hope the
progression of the disease may not happen as quickly
as the rst doctor described to us; but we do know
there is no cure and our sons will die because of the
disease if there is no cure or at least better treatment
options. I am sharing with you because three of our
four sons have Duchenne Muscular Dystrophy. I am
sharing with you because I am scared that 3 of my 5
children could die without a cure or better treatments
of Duchenne Muscular Dystrophy. My sons are young;
but still face daily challenges because of Duchenne
Muscular Dystrophy. Max is our oldest son, he is
8. Max’s muscle strength is in a decline. There are
things he could do three or four months ago that
are becoming increasing more difcult for him. He
is falling more often. Two weeks ago he fell and hurt
the tendons around his knew. He limps and uses his
medical stroller more now than ever before. We hope
that as his tendons heal, his mobility will come back.
However, because of Duchenne Muscular Dystrophy
there is no guarantee that he will bounce back. Just
yesterday he fell trying to play soccer, hit is head and
has a concussion. He was falling like this three months
ago. The hardest for me to swallow is that Max does
not always nish putting a lego set together. That was
unheard of a couple of months ago; Max would sit for
hours to complete a set, but now he doesn’t seem
to have the stamina. As a parent this is very hard to
watch, no one should watch their children regress.
Parents dream of watching their sons grow into men,
watching their dreams come true. Duchenne and the
lack of treatment threatens to steal this dream from
us. It threatens not just the loss of one son, but three
sons. It threatens to take half of my children from me.
My husband and I feel we are proactive, we are doing
everything within our power to save our children. We
make nancial sacrice to take our children to the
best doctor available (14 hours from our home), we
follow a strict diet, we home stretch, we fund-raise
to help nance research. In fact, Max participates in
the [clinical research] study and [drug] trial in hopes
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that not only we help, but that he can have access to
a drug that may save him and eventually his brothers.
Our experience with the [drug] trial has been heart
wrenching and I would like to share with you why. We
screened Max for the study 6 months ago, before
his decline, and he did not make it into the study
because he walked too far during the 6 minute walk
test. We re-screened this February and he made it in,
and although we are happy he did, it was because his
muscle strength had declined and he was no longer
able to walk too far. If there had been no 6 minute
walk test, Max could have had access to [drug] before
his decline and his strength could have been saved.
We do not know if Max is receiving a placebo or the
actual drug. However, based on the changes we have
seen in his strength the last couple of months, I think
it is very likely he is on the placebo. If there was no
placebo, his change in muscle strength, his decline
could be stopped. This is why I believe with all my
heart, that every day that it takes to approve a drug,
is a day my sons do not have. It is why I believe so
strongly is a faster approach to approve the drugs
that could help. I want my sons to be saved. I want to
watch all 5 of my children blossom into amazing adults
and see all the things they accomplish. The possibility
that I might see only two children live, should not be
a possibility I have to consider as I think of the future.
I have attached a picture of our family so that you can
see those cute boys and know what we are ghting
for and that you would join our ght to save them.
Max, Rowen, and Charlie are the three we are holding.
Sincerely, A mother in love with her sons and not
willing to let them go. Betty Vertin
Hope for the Future
I want the FDA to know that when Duchenne enters
your life, there is no “son, you can grow up and be
anything you want to be” discussion anymore. I
want them to know that it changes everything about
parenting you ever thought you knew to be true.
Before Duchenne, I pushed my children to do their
best at school, and set goals for themselves. Give
100%, isn’t that what we’re supposed to do? But
just how important is education for a child that may
not live long enough to utilize it?? How important is
discipline when by the time my son reaches the age
where he can start to actually reect on and practice
our teachings to him, he will be struggling just to
breathe and eat?? I made a commitment to him when
he was diagnosed - I will knock down every door. I will
MAX, 8 years old; ROWEN, 5 years old; CHARLIE, 3 years old
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raise as much money as I can. I will search the world
over for any opportunity to save him. I will give up my
career in order to focus on this goal full-time. I will
give up every single personal goal I have for myself so
that he can have what he needs/wants from me. After
all, God chose me to be his mother for a reason, and
I understand that he is a gift for which I will always be
grateful. I want the FDA to consider the possibility of
not only acting as a regulator, but as a facilitator. A
partner. While we recognize the need for safety and
appreciate their efforts, our ght is to save our sons’
lives. NOW. I would love to see the FDA put a panel
together that interacts with our community about
clinical trial design. It was apparent from last year’s
PPMD Conference there is a disconnect between
regulator and clinician regarding endpoints. The FDA
says “we review what we are given” and the clinician
says “we want to know what is an acceptable endpoint
and when we ask we get no information”...why can’t
there be more of a partnership here? The FDA can be
our true heroes here. No other country has approved
a treatment for this God awful disease yet. Our
country can show true leadership and compassion by
accelerating the process for approval and partnering
with us to get this done.
Message of Urgency
As a parent, I think it was the hardest question I’ve
had to answer (yet): “Will I never be able to get up
on a stool again without help?” Automatically my
rehearsed optimism kicked into gear. “We hope that’s
not the case. We hope that all the doctors working on
new medicines will nd a cure.” My son was 3 years
old when he was diagnosed with Duchenne muscular
dystrophy. But, we dared to believe, this was a new
era for the disease. Medical science had had so many
recent break-through. A cure was just around the
corner. Seven years later, my son is getting a new
set of wheels -- a wheelchair, that is -- for his 11th
birthday. Still no cure. The studies go on, but still no
real break-throughs -- at least not for my boy, who
can’t go trick-or-treating without his dad to lift him
up the front steps to ring the doorbell. We push him
to do well in school, not knowing if he will be able to
hold a pencil by the time other kids his age learn to
drive. Most kids learn independence as they grow.
Mine gradually relinquishes every milestone he gains.
God can’t help my son. But medical science can.
Frighteningly, Duchenne moves faster than new drugs
become available. If you have it in your power, if there
is anything you can do to speed the process, to make
hope and faith mean more than empty words, please,
please do so. For me, for my son, the time is now.
Down the road is too far for him to walk. His chance
is here and now. Let it be true that the doctors can
help. Let it be true that a stepstool will be only the
beginning of the heights he will yet achieve.
Harmonizing between Regulatory
Bodies
I want them to know that my son is a beautiful,
seemingly healthy boy that is dying inside. His
muscles aren’t and can’t grow until they allow us
medicines that can slow the progression of Duchenne.
I understand the need for caution and care, but I also
know that while drug companies are allowed to give
medicines in other countries, our children are dying.
We should be able to use studies and data from other
countries without having to jump through duplicative
hoops in America just to say we did! Parents should
be able to decide the risk/benet of a drug that has
gone through and passed preliminary testing. I would
rather my son die trying and ghting than waiting
and wondering and wishing. Please help these young
men and women who are RELYING on YOU for help.
Please don’t slow down the progression of drug
development. Please nd ways to speed it up! I am
one parent willing to take and educated risk! Thanks!
These are only a small fraction of the stories. We
encourage you to visit ParentProjectMD.org/MyVoice
to hear more from our community.
JACKSON, 7 years old
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As a nal message, several participants thanked the FDA for their commitment
to drug development for rare disorders and for Duchenne more specically.
Families of individuals with Duchenne muscular dystrophy would like the FDA to
feel strong pressure to move as quickly as possible, because of how Duchenne
muscular dystrophy progresses. Delays mean that people with Duchenne lose
abilities and possibly their lives. They hope for increased exibility in the design
of clinical trials, and higher tolerance for risk from the FDA—important steps in
their quest to give themselves/their children a chance for a better future.
For more information please contact Holly Peay or Ryan Fischer.
CONCLUSIONS
“We understand all that the FDA does for patients. In addition, we
especially appreciate that you listen to our community and are trying to
rethink your expectations for trials with rare diseases. Thank you for all
you do!”
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ABOUT
PARENT
PROJECT
MUSCULAR
DYSTROPHY
Duchenne is a fatal genetic disorder that slowly robs young men of their
muscle strength. Parent Project Muscular Dystrophy (PPMD) is the largest most
comprehensive nonprot organization in the United States focused on nding a
cure for Duchenne muscular dystrophy—our mission is to end Duchenne.
We invest deeply in treatments for this generation of young men affected by
Duchenne and in research that will benet future generations. We advocate in
Washington, DC, and have secured hundreds of millions of dollars in funding.
We demand optimal care, and we strengthen, unite and educate the global
Duchenne community.
Everything we do—and everything we have done since our founding in 1994—
helps boys with Duchenne live longer, stronger lives. We will not rest until every
young man has a treatment to end Duchenne. Go to ParentProjectMD.org for
more information or to learn how you can support our efforts and help families
affected by Duchenne.
401 Hackensack Avenue, 9th Floor
Hackensack, NJ 07601 • T. 800.714.5437
EndDuchenne.org
