Oswald Chambers said, “There
will come one day a personal and direct touch from God when every tear and
perplexity, every oppression and distress, every suffering and pain, and wrong
and injustice will have a complete and ample and overwhelming explanation”. Oh how I long for that day!
Over 2 weeks ago I flew to Washington, DC. I was part of a large
group who would make a showing of support at an FDA Ad Comm meeting. To support
and encourage the approval of the first ever drug for Duchenne Muscular
Dystrophy, known as Eteplirsen. After our disappointing trip to California last
month in hopes of Ryan being part of a different clinical trial, I was asked to
submit a written testimony about our experience. The hope that my testimony,
along with many others, would help the FDA to see the human side; that
there are real people, boys and young men (parents included) whose lives depend
on what they decide.
The wheels on the plane just touched down when my phone buzzed
with incoming messages. As we waited for the plane to disembark I
scanned through the messages, stopping in disbelief when I read these words:
“The FDA meeting has been cancelled due to expected inclement weather.” I
re-read it another time to make sure I understood the message. We just flew 6
hours across country to attend this meeting, now what?
Not sure what to do, I got off the plane and headed down to
luggage claim. There was a shuttle driver waiting to take me and other families
to the hotel. It was late and I was tired. Figured I would get to the hotel,
get some sleep and then make arrangements to fly back home.
The ride from the airport to the hotel was difficult. There was a
lot of traffic, the roads were icy from a trace of snow. It took over 2 hours
to get to our hotel. The other families on the shuttle were in the same
position as us. They had flown in from California to be part of the meeting.
For 2 hours there was a lot of talk about disappointments, frustrations and making
plans to return home.
We finally arrived at the hotel close to 1:00 a.m. As the families
started unloading, one of the little boys was crying. He was afraid
to get off the shuttle. He knew it was icy and was afraid he was going to fall.
A very real possibility for a boy with Duchennes. As the mom was
struggling with luggage, I realized that the boy and his mom were traveling
alone. I didn’t hesitate to ask, “Can I give him a piggy back ride into the
hotel?” He stopped crying and his mom said yes! I turned
around and told him to put his arms around my neck. I gently lifted him onto my
back and down the steps into the hotel. The moment he put his arms
around my neck, the familiarity of that little action brought tears to my
eyes. I was surprised by the emotions.
Not wanting to completely lose it I tried to stay focused on getting him safely
inside the hotel. Still fighting to hold back the tears I walked into the lobby
of the hotel and set him down on the couch. After making sure he was okay and
that his mom was back with him, I walked to where my friend was waiting
for me.
The moment I saw her, there was no more fighting the tears. Still
confused as to why I was hit but such intense emotions I let the tears
flow. Then it hit me. The memories of
Ryan being this little boy’s age and of the hundreds of times I gave him piggy
back rides. I cannot begin to tell you how many times, my husband, Ryan’s
older brothers and I carried him. When his legs would get tired, when the steps
became too much for him to pull himself up. In fact, until we got a chair lift
in our home we carried him up and down the steps in our house numerous times
every single day.
Memories are normally very positive and an important part of life.
However, they can also be negative when progressive disease affects your family
and friends, especially your own child. In my case, it is our youngest son Ryan
who has Duchenne Muscular Dystrophy.
I rarely look at pictures from the past. When I do I feel like I
am peeking at them through my fingers, like you would when you are watching a
scary show…wanting to look, but not wanting to deal with the intense
emotions. When I see pictures of Ryan walking, running, riding a
bike, I know he did these things but that part of our life seems to be from a
different world. The moment he stopped walking became a forever
pivotal day in our life. Pictures are a vivid reminder of how much
Ryan has lost. They show milestones to the grief that we have had to deal with.
For survival I carefully built a protective wall around the memories,
to protect myself from the feelings and painful emotions they cause. But once in
a while something will happen that will chip a little into that wall. That
moment I lifted that boy, the familiarity of that action didn’t just chip at
that wall. The wall, I worked so hard to keep in tacked, came crashing down and
I was thrown back into a world that I have tried so hard to forget.
When I boarded that plane to DC I convinced myself I was just
going to show support. I normally don’t like to put myself in these
situations, knowing how emotional it can be, but my wall was firmly in place! I knew about the exon skipping drug,
Eteplirsen. I also knew that it did not directly affect the outcome of Ryan’s
specific deletion, so I could go and just be a quiet supporter. There would be
no emotions attached. That is what I told myself, until that moment.
How could I look at these younger boys and not feel? In that
moment I could see how this could be a game changer for them!
Without this drug I KNOW what these families will go through. It
is written in stone. I know from personal experience how much heartache, pain
and grief they will have to endure over the next few years. But this drug may
give them a chance! A chance to be able to have a different path in the
Duchenne’s world.
Eteplirsen is not new to the scientific world. They have been
working on Exon skipping as a possible treatment for 25 yrs. There has been a Patent on it for 10 years. The specific drug Eteplirsen has
been in clinical trial for almost 5 years. It’s hard not to get emotional when
you think about the fact they have had the technology to skip every exon for 10
years.
I think back to where my son was 10 years ago. Here is a picture
of Ryan and his dad. 10 years ago, Ryan was 8. His dad giving him the very
familiar piggyback ride!
Although diagnosed at age 5, by the age of 8 he was just starting
to show more intense signs of the muscle weakness. He was still able to walk, only
he could not walk for very long without becoming exhausted.
There is one vivid memory I have of Ryan when he was 8 years old.
He would set his own alarm to wake up extra early every morning. He would
get dressed, pour a bowl of cereal, brush his teeth and put his shoes on. He
would come into my room to wake me up, give me a big hug and inform me he was
ALL ready for school. Then he would ask if he could watch his favorite cartoon,
“Sponge Bob”.
Ryan is 18 yrs old now, and has to wait for me to dress him, lift him out of bed and
into his wheelchair, brush his teeth and make his breakfast. He can no longer lift his arms to give me a hug. I know how hard it is for me, I can only
imagine how hard it is for Ryan. He has had to grieve these losses of independence a little at a time.
I think how different it might have been when at 8 yrs old he
went to MDA camp for the first time. He cried to come home after the first
night. Even after he was home he was unable
to sleep for a week before he finally opened up to me. He told me he saw older boys in wheelchairs,
and some using machines to breathe. Ryan knew these boys had the same disease
as he did and it scared him. We had talked a little about his disease but when
he SAW those boys he came face to face with the reality of his future. No 8
year old boys should have to deal with such difficult things, such as wheelchairs
and ventilators and even death at such an early age. If only there was a drug available to him,
like Eteplirsen. That conversation could have gone a whole lot different. There
could have been the promise of things being different for him. It could have
been a game changer in his life!
Last month we were given opportunity to go to California
to be part of a clinical trial. As parents we were beyond excited and ready
right then to say YES! But we knew it was Ryan’s decision to make. Ryan was
understandable cautious but he said
he would think about it. He asked us a lot of questions and even did
research online about it. He finally said “Let’s go for
it”. “What do I have to lose”?
I wish the outcome was different. Being told
after Ryan’s initial screening that he didn’t meet minimal requirements for the
trial was for us another loss we had to deal with. I couldn’t help thinking if only this
opportunity was presented to us 5 years ago how much different things could
have been.
Eteplirsen has been in clinical trial for 5 years. The data shows
the drug works, that it slows the progression of Duchenne, in some cases stops
and reverses it. The drug allows muscles to produce dystrophin, the muscle
missing in Duchenne boys. The drug is completely safe. No negative
side-effects, no adverse events in any of the trials.
That is why I feel so strongly that the FDA needs to give this
drug a chance. To the FDA, I will use Ryan’s own word “Let’s go for it”. “What do we have to lose?” From the way I see it, there is nothing to
lose by approving this drug but for those boys with this specific deletion they
have everything to gain!
We are still waiting for the Ad Comm meeting to be rescheduled. I
can only imagine how hard this is for the parents of those boys directly involved
with this drug. As I have already
stated, they have been working towards this for 5 years. To get this far and
then a snow storm shut the door! How discouraging and frustrating for them.
I
cannot change any of that. What I can do is show my support. We are all in this
together whether or not your child can benefit from this specific exon skipping
drug or not. We need to stand together in support. We all know it is those with
the loudest voice who gets the attention. Hopefully in this case it will be
positive attention!
You don’t have to travel to Washington to have your voice heard.
Here is what you can do to help.
1. Get the word out, share this with everyone you know. Share on
your face book post and encourage all your friends to do the same.
2. Contact your states representatives. Encourage their support on
this issue.
3. Pray that there will be
NO political games in these hearings. This is not a game, these are our
children’s lives.
The day I received the call of Ryan’s diagnosis will be forever
imprinted in my mind. A phone call no
parent should ever have to receive. We were in shock when we were told over the
phone that Ryan had Duchenne Muscular Dystrophy. We would need to see a
Neurologist to have a genetic test to confirm the diagnosis. The doctor went on
to say, “There was no hurry in getting this done because there is no treatment or
cure for Duchenne”. Can you imagine for a parent knowing what
your childs life will be like and being told there was NOTHING you could do to
change it?
Can you imagine how much different that phone call would have
been if the diagnosis of Duchennes was followed by the words” I am excited to
share with you a new treatment that has just been approved by the FDA”.
Yes there IS something you can
do! This drug can be a game changer for these boys!
For information about Exon Skipping
Thank you for being such an amazing advocate for your child and others with Muscular Dystrophy. Thanks for adding this link to the Dream Team Tuesday special needs link up.
ReplyDeleteThank You Jolene Philo for allowing me to share on your Special needs link up!
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