In a World Unequipped for Rare Disease
Written by Richard Horgan; Read the original Cure Rare Disease post here.
On Saturday, December 28th, my brother fell and broke both of his femurs.
Broken bones are always unwelcome. But for our family, one who is impacted by rare disease, they are both shock and terror.
Our story of courage, heroism and downright determination, is one week in our Duchenne journey.
My brother Terry is 24 years old. He is intelligent and stubborn, as he has heroically fought Duchenne his entire life.
As Duchenne threatened Terry, he continued he stand, take steps and do everything humanly possible to buy time until an effective therapy reached him.
Jaded skepticism is our family motto, and Terry lives it daily. We are a small family, way more focused on trading more time with each than the idyllic “Hallmark” Christmas moments. We are happy when we appear in more hospitals and emergency rooms than we’d want. Small, but mighty, we rely on one another, and always have, to face challenges large and small. To win this deadly battle required sacrifice. We sacrifice anything for each other.
On an average day after Christmas, Terry stood, as he usually does. In the blink of an eye, Terry collapsed twisting his legs and smashing his face on his walker on the way down. A fall for Terry is like a bomb going off — a moment of wild, frozen terror followed by furious action and the horror of what bones may be broken. The worst part is the screaming, the haunting painful scream.
Duchenne brings falls and broken bones. But in Duchenne, the cost is higher. Without muscle use, they atrophy. For Terry, weakening muscles not a small challenge, it is our war.
Our war began in the local ER. X-rays were taken and our worst fears came true — Terry had breaks in both femurs. With a local emergency room unfamiliar with Duchenne, Terry needed to be transported.
Finding the right place for care is an issue for all patients, even a more severe one for the most compromised, the most rare.
As night fell, Terry was moved to a local university hospital. Now it was time for the big decisions that awaited.
With two breaks, the choice was to cast or let it heal. And for Terry, surgery was a risk. People with Duchenne have breathing sensitivities, and going under is a huge risk.
Arriving in Syracuse, x-rays were taken and confirmed the breaks. At first the surgeon suggested one rod in the more seriously broken femur. However, a second rod was suggested for the lesser broken leg — something we hoped would provide Terry more stability for him into the future. Terry is the ultimate decision maker though looked to me for advice. Believing it was worth the extra stability, I suggested him to proceed with both — understanding the risks — but knowing there was more to this battle than broken femurs.
These are the risks that families impacted by these terrible diseases have to face. Surgery is dangerous — people with Duchenne have breathing sensitivities (the diaphragm is a muscle remember) and surgeons must be incredibly cautious of the dangers of anesthesia. Thankfully, with the support and guidance of Dr. Brenda Wong from hundreds of miles away, we felt relatively confident that all would be well.
Surgery would take several hours, and began around 5pm on Sunday evening. My parents had been awake now since Saturday morning and we waited on any news from the surgery. Hours past and the surgeon came to us in the waiting room, to let us know that the surgery had gone well and that Terry was coming out of anesthesia. The news brought a sense of relief, or so we thought, that the worst was over, that maybe tomorrow the sun would still rise.
Standing by Terry’s side in the recovery room, his blood pressure was low though rising and his heart rate high but falling. It’s not entirely clear what happened next but his pressure began to drop and his heart rate rise. It kept getting worse. Suddenly, a blood transfusion was suggested…and then strongly recommended as the situation continued to deteriorate. Terry continued to get worse, his skin turning alarmingly white as the team tried to stabilize him. The team was eerily calm but moving quickly, to act but not strike fear into us. Panic began to rise.
More doctors arrived…and am EMT team ready to resuscitate if needed. Seeing those paddles and Terry’s frail semi-conscious body was forever burned into my mind. But you can’t show weakness or fear because, even semi-conscious, Terry was aware and judging the situation based on our reactions. All I could think is this isn’t happening, we haven’t fought and suffered to lose now. Not when we are so close. Not with a custom drug is just around the corner, hold on, Terry, please hold on. Don’t let go, please. Praying to whoever may be listening to take me instead.
As family, you spend so much time mounting defenses against an enemy you believe you’ll see coming a mile off — this was different. Suddenly those defenses were gone and it felt like that mile turned into an inch and it was a fight to survive.
Minutes turned into hours and hours into minutes as Terry was rushed into the ICU. As Terry got into the ICU he began to vomit — a lack of blood pushing him into shock. With nothing in his stomach from the surgery, the pain of dry heaves rattled through Terry with nothing to do but be there for him and support him.
The blood transfusion was started and even that, at first, had limited effect. His heart rate stayed high and his BP dangerously low. My least favorite part of the hospital is the smell. Sitting there in the darkest hour of the night with the beeping of the machines, your mind starts to wander and the smell, even now, sits with you. How did this happen, how did we get here; the night has its way of making you doubt everything and the weight of the darkness sits so heavily.
Hours passed from here and Terry remained below consciousness. Unable to sleep, my mom and I kept our eyes on him, watching him ever so closely, the little movement of his body breathing, us hanging on to each breath. Morning came but with it no light — as Terry would fade in and out of consciousness for the next day or so. Awakening to pain in his hips or leg, terrified of being moved and vitals dangerously borderline.
With an improving situation on Tuesday, we believed to be making progress. Terry’s consciousness improved and he began eating. Briefly leaving the hospital for the first time in days, I felt drained yet clung on to the hope that we’d made it through this terrible ordeal. Until later in the evening when my dad would call at 2am.
Terry’s hemoglobin was again crashing. They prepared for another surgery, to stop the mysterious internal bleed that continued to threaten Terry’s life. Terry had nothing left to give. He’d underwent multiple serious surgeries, almost went into cardiac arrest and had endured the terrible post-surgical pain. Another surgery, in my mind, would have been it for Terry. Hearing Dr. Wong’s voice tell us this is something I’ll never forget: if a surgery was needed it was because the alternative was even more dangerous. And so at 2am at the beginning of the new decade, we waited for what felt like the inevitable.
Fear, anger, hopelessness, rage all storming around inside — how could this happen? We did everything we could right, we fought the good fight against this awful for over twenty years watching my brother get weaker and weaker with nothing but “hope” to hang on to.
Two more units of blood were transfused in a last effort to see if the bleeding had stopped. Hours later his hemoglobin was measured and had began to rise, ever so slowly. Spent and worn, my family had endured so much. I was tired of feeling like we were going to lose him. I was tired of a system that had failed for so long that it had led us to be sitting in this hospital room for almost a week.
Thankfully, Terry’s hemoglobin eventually stabilized and he was monitored for the ensuing days through the new year. We had talked about how 2020 was going to be different, how it would be a year where we stopped losing ground but instead advanced into this custom therapeutic that our team had worked tirelessly, through Christmas and through the new year on.
We thought we’d lost that hope — but somehow Terry fought battles that we could only imagine and he began to improve. Friends from different walks of life reached out and prayed for Terry. By sheer force of will, Terry prevailed.
Going home we felt different, a certain seriousness had descended upon us after this. A realization that we could prepare for years yet lose the war in a moment. A certain vulnerability that we have so little power, but only the sheer strength of stubbornness and refusal to give up to get us through. The thunderous noise of the silence a stark reminder that we need to win this. That we’ve been through too much to lose now and an improved determination that because the status quo had failed for so long, that it was truly up to us, as it had been all those years before with my parent’s business, to figure this out through our team and to move heaven and earth to not let Duchenne win.
Near-death experiences like these forever seer into your mind how fragile life is and how critical it is to keep pushing and to work together to end this. Dr. Wong’s injection into the care team early on and consistently had proven to be a lifesaver, as she tirelessly followed up and checked on Terry from hundreds of miles away at all hours of the day and night. Her selflessness and ability to act quickly under pressure is something I’ll never forget, and will be eternally grateful to her for. And ultimately, the collaboration of our researchers from Yale to Charles River to Nationwide and beyond that will lead us to win this war.
We are close and we will win because losing isn’t an option.
To learn more about the Cure Rare Disease mission, visit cureraredisease.org
Rich Horgan is the Founder and President of Cure Rare Disease. He has a deep passion for Duchenne Muscular Dystrophy (DMD) and other rare diseases. With a younger brother impacted by the disease, Rich has a strong interest in accelerating promising treatments for the disease. He formed a collaboration with world-class researchers and clinicians to pioneer the rapid development of customized therapies for Duchenne and other rare diseases. He holds a BS from Cornell University where he graduated summa cum laude and an MBA from Harvard Business School where he was awarded the Blavatnik Fellowship for Life Science Entrepreneurship.
Originally published at https://cureraredisease.org on January 17, 2020.
