Waking is a happy time for our son, Alex. Although, like anyone, he can be a tad grumpy some days, he typically rises with a stretching yawn and growing smile. I suspect Alex starts this way because he knows laughter will soon follow someway, somewhere, and somehow, in ways neither of us can predict. On any given morning, Alex endures bad jokes, blinding Dad dances, amateurish voice and character impersonations, or “come-on-Dad-I’m-seventeen-already” stuffed animal animations. I engage him in such an imaginative manner in hopes of getting his brain churning and blood pumping to start the day. Believe me, it works! You can almost see his mind turn on and his body energize during the exchanges. Honestly, there is no purer sight than Alex’s morning smile and no more genuine sound than his belly laugh.
Some mornings, however, are starkly different.
Like yesterday…and for good reason.
Yesterday, I woke him quietly and pleasantly, allowing him to acclimate himself to the stillness of the day and the sunlight sneaking through the slatted blinds. I didn’t jump up and down on his bed as he likely expected. I didn’t use wild imaginations as he likely anticipated. I didn’t speak to him in an altered voice or display dance moves seen on Ellen. No, yesterday I just tapped his shoulder, whispered good morning, and then waited for him to rise without fanfare. The awakening was subdued, but worked just as well as he quickly sensed something amiss and opened his eyes wide and searching.
“Why are you just standing there?” he said through his nasal Bi-PAP. He strained to look around, searching for clues before squarely turning back to me with confusion. Something was up, he could tell.
I turned off his Bi-PAP and removed the flexible tubing and elastic head straps.
“Because it’s a good morning,” I stated simply with a knowing smile.
It was a good morning because, earlier in the day, the Food and Drug Administration granted accelerated approval of the first drug to treat Duchenne Muscular Dystrophy. The drug is called Eteplirsen and had been subject to scrutiny and delay for many years leaving Duchenne families frustrated and concerned. Eteplirsen is an exon-skipping drug specifically designed for Duchenne boys missing exon-51, approximately 13% of the Duchenne population. The news is hopeful for all boys and families with Duchenne because it opens the door for financing, research, and approvals for various Duchenne trials and studies.
Nonetheless, as I stood before Alex yesterday morning, I debated whether to share the news. I struggled with the idea because Eteplirsen did not directly impact him (Alex is missing exons 49-54), and I certainly did not want to mislead him. Would he understand this is not a cure? Would he understand the drug still requires study? Would he be happy or sad? Would he hear hope or discouragement? Would he feel left in or left out? Would he grasp the significance of today? What should I do?
On seeing his searching eyes and the reddened strap-marks creased across his cheeks, I knew. On seeing his flat, immobile, position in bed, and his contracted legs bent less than ninety-degrees at the knees beneath the sheets, I knew. Upon knowing the physical exhaustion of Duchenne kept him from school again yesterday, I knew. The FDA news could only help. He needed this. He needed something.
“Hey, I’ve got some news to share with you.”
Alex furrowed his brow in mild confusion, still wondering when the jokes would begin. He would have sat up straight with baited interest, if he could, but he resigned himself to lying flat instead. Waiting. As always.
“Remember when I told you about the drug Eteplirsen?”
He nodded.
“Well, this morning the FDA…”
When I finished, Alex didn’t say a word and I wondered if he fully grasped what I had shared. I wondered if sharing the news wasn’t such a good idea. Did I give him false hope? Did I cause him to consider his situation in contrast to boys who would directly benefit? Perhaps I should have resorted to our imaginative ways instead.
Then, from his supine position, Alex slowly and deliberately walked his fingers up his chest one inch at a time. When his hand reached his mouth, he hooked a finger in his cheek and turned his head to pull his arm even higher (he does this when he wants to reach something above his head or on the other side of his body). He then resumed his finger-march up his face and towards the side of his head. I knew immediately what he was doing and smiled in recognition. Tears gathered in the corners of my eyes in anticipation of what was to come.
When his fingers reached just above his temple, Alex clenched his fist. He then exploded his fingers from his head as if to say his mind was blown. He then dropped his arm and feigned fainting in disbelief. Just as quickly, he opened his eyes and turned back to me with excitement. A huge smile simultaneously formed across his face.
“Really!?” He said with bursting enthusiasm.
“Yes, really,” I replied happily, thankful for his reaction.
He turned his head and looked toward the sunlight streaming through his window slats.
“Seriously?” he sought to confirm.
“Yes, seriously,” I said with a smile.
I then explained the specifics again. I explained that approval comes with conditions of successful trials. I reminded him Eteplirsen only addresses exon-51. I reminded him we are still years away from definitive results. I reminded him of the obstacles yet to cross. I reminded him it’s not a guarantee. I reminded him…
Alex didn’t care. He had been waiting for something, anything, to hold onto…for years. Now, instead of politely nodding when his neurologist, Dr. Wong, explained how doctors are working hard to find a cure, he could see progress. Now he could sit up attentively in his power wheelchair and listen. Things were becoming real. Now, instead of thinking Duchenne as incurable, he could hold onto hope that maybe…just maybe…a cure was possible. He understood the scale of years, but didn’t care. A cure for Duchenne was at least a possibility someday, perhaps in his lifetime, and he couldn’t be happier.
His stream of thought then advanced in rapid fire, and pulled at my heartstrings.
“Dad, it would be SO cool if I could walk again, wouldn’t it!? Oh my gosh! But, I know it would probably take a while. Wouldn’t it? Do you think I would remember how to walk? I mean, I remember, but maybe my legs don’t remember. Maybe they will need to be taught again. And, the ground! I’ll feel the ground again! That will be weird. I wonder how my feet will feel against the ground? And, I’ll be able to turn around and see who is behind me! Nobody will be able to sneak up on me anymore! Do you think I’ll be able to stand up straight? Will my back be strong enough? I wonder if a cure for Duchenne will help my back? Do you think it would? I wonder if I will remember how to run? Will my legs cooperate? They’ll probably need to learn how again…..”
His thoughts were endless and absolutely beautiful!
I watched and listened in awe. He deserved this feeling. There, before me, lay a kid who simply wanted what most of us take for granted. He wanted his arms and legs back. He wanted to walk again. He wanted to sit up. He wanted to turn around. He wanted to run, if not to be so greedy.
He wanted to be like anyone else.
The FDA may have simply approved a new drug. They may have conditioned their approval with countless caveats and legal escape clauses. But, they cracked open the door for new research and possibilities even a kid could understand. They may have given some scientist or researcher an idea that is still years from effectiveness. They may have given support to those currently working hard to find a cure. But, more importantly, in this household…in Alex’s bedroom…news from the FDA ignited a spirit. Even though Eteplirsen will not help Alex, even if the road to one that does is probably long and remote, one thing is certain. Yesterday, the FDA gave a boy a nugget of hope. And, sometimes…that’s all that matters.
Alex ended his feelings with one simple yet beautiful statement. He expressed this to me with a full smile on his face and a faraway look in his eyes as he looked to the sunlight pushing into his room.
“Dad…if I could walk again…that would be awesome!”
Yes, Bud, that would be awesome indeed!
Some mornings, however, are starkly different.
Like yesterday…and for good reason.
Yesterday, I woke him quietly and pleasantly, allowing him to acclimate himself to the stillness of the day and the sunlight sneaking through the slatted blinds. I didn’t jump up and down on his bed as he likely expected. I didn’t use wild imaginations as he likely anticipated. I didn’t speak to him in an altered voice or display dance moves seen on Ellen. No, yesterday I just tapped his shoulder, whispered good morning, and then waited for him to rise without fanfare. The awakening was subdued, but worked just as well as he quickly sensed something amiss and opened his eyes wide and searching.
“Why are you just standing there?” he said through his nasal Bi-PAP. He strained to look around, searching for clues before squarely turning back to me with confusion. Something was up, he could tell.
I turned off his Bi-PAP and removed the flexible tubing and elastic head straps.
“Because it’s a good morning,” I stated simply with a knowing smile.
It was a good morning because, earlier in the day, the Food and Drug Administration granted accelerated approval of the first drug to treat Duchenne Muscular Dystrophy. The drug is called Eteplirsen and had been subject to scrutiny and delay for many years leaving Duchenne families frustrated and concerned. Eteplirsen is an exon-skipping drug specifically designed for Duchenne boys missing exon-51, approximately 13% of the Duchenne population. The news is hopeful for all boys and families with Duchenne because it opens the door for financing, research, and approvals for various Duchenne trials and studies.
Nonetheless, as I stood before Alex yesterday morning, I debated whether to share the news. I struggled with the idea because Eteplirsen did not directly impact him (Alex is missing exons 49-54), and I certainly did not want to mislead him. Would he understand this is not a cure? Would he understand the drug still requires study? Would he be happy or sad? Would he hear hope or discouragement? Would he feel left in or left out? Would he grasp the significance of today? What should I do?
On seeing his searching eyes and the reddened strap-marks creased across his cheeks, I knew. On seeing his flat, immobile, position in bed, and his contracted legs bent less than ninety-degrees at the knees beneath the sheets, I knew. Upon knowing the physical exhaustion of Duchenne kept him from school again yesterday, I knew. The FDA news could only help. He needed this. He needed something.
“Hey, I’ve got some news to share with you.”
Alex furrowed his brow in mild confusion, still wondering when the jokes would begin. He would have sat up straight with baited interest, if he could, but he resigned himself to lying flat instead. Waiting. As always.
“Remember when I told you about the drug Eteplirsen?”
He nodded.
“Well, this morning the FDA…”
When I finished, Alex didn’t say a word and I wondered if he fully grasped what I had shared. I wondered if sharing the news wasn’t such a good idea. Did I give him false hope? Did I cause him to consider his situation in contrast to boys who would directly benefit? Perhaps I should have resorted to our imaginative ways instead.
Then, from his supine position, Alex slowly and deliberately walked his fingers up his chest one inch at a time. When his hand reached his mouth, he hooked a finger in his cheek and turned his head to pull his arm even higher (he does this when he wants to reach something above his head or on the other side of his body). He then resumed his finger-march up his face and towards the side of his head. I knew immediately what he was doing and smiled in recognition. Tears gathered in the corners of my eyes in anticipation of what was to come.
When his fingers reached just above his temple, Alex clenched his fist. He then exploded his fingers from his head as if to say his mind was blown. He then dropped his arm and feigned fainting in disbelief. Just as quickly, he opened his eyes and turned back to me with excitement. A huge smile simultaneously formed across his face.
“Really!?” He said with bursting enthusiasm.
“Yes, really,” I replied happily, thankful for his reaction.
He turned his head and looked toward the sunlight streaming through his window slats.
“Seriously?” he sought to confirm.
“Yes, seriously,” I said with a smile.
I then explained the specifics again. I explained that approval comes with conditions of successful trials. I reminded him Eteplirsen only addresses exon-51. I reminded him we are still years away from definitive results. I reminded him of the obstacles yet to cross. I reminded him it’s not a guarantee. I reminded him…
Alex didn’t care. He had been waiting for something, anything, to hold onto…for years. Now, instead of politely nodding when his neurologist, Dr. Wong, explained how doctors are working hard to find a cure, he could see progress. Now he could sit up attentively in his power wheelchair and listen. Things were becoming real. Now, instead of thinking Duchenne as incurable, he could hold onto hope that maybe…just maybe…a cure was possible. He understood the scale of years, but didn’t care. A cure for Duchenne was at least a possibility someday, perhaps in his lifetime, and he couldn’t be happier.
His stream of thought then advanced in rapid fire, and pulled at my heartstrings.
“Dad, it would be SO cool if I could walk again, wouldn’t it!? Oh my gosh! But, I know it would probably take a while. Wouldn’t it? Do you think I would remember how to walk? I mean, I remember, but maybe my legs don’t remember. Maybe they will need to be taught again. And, the ground! I’ll feel the ground again! That will be weird. I wonder how my feet will feel against the ground? And, I’ll be able to turn around and see who is behind me! Nobody will be able to sneak up on me anymore! Do you think I’ll be able to stand up straight? Will my back be strong enough? I wonder if a cure for Duchenne will help my back? Do you think it would? I wonder if I will remember how to run? Will my legs cooperate? They’ll probably need to learn how again…..”
His thoughts were endless and absolutely beautiful!
I watched and listened in awe. He deserved this feeling. There, before me, lay a kid who simply wanted what most of us take for granted. He wanted his arms and legs back. He wanted to walk again. He wanted to sit up. He wanted to turn around. He wanted to run, if not to be so greedy.
He wanted to be like anyone else.
The FDA may have simply approved a new drug. They may have conditioned their approval with countless caveats and legal escape clauses. But, they cracked open the door for new research and possibilities even a kid could understand. They may have given some scientist or researcher an idea that is still years from effectiveness. They may have given support to those currently working hard to find a cure. But, more importantly, in this household…in Alex’s bedroom…news from the FDA ignited a spirit. Even though Eteplirsen will not help Alex, even if the road to one that does is probably long and remote, one thing is certain. Yesterday, the FDA gave a boy a nugget of hope. And, sometimes…that’s all that matters.
Alex ended his feelings with one simple yet beautiful statement. He expressed this to me with a full smile on his face and a faraway look in his eyes as he looked to the sunlight pushing into his room.
“Dad…if I could walk again…that would be awesome!”
Yes, Bud, that would be awesome indeed!
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