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. As he became more dependent, my once happy easy going child started battling fear and anxiety. Leaving the house to go to school became a challenge.
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