Behind the mic: Learning about oligonucleotides and a family that fights
I hope you’ll forgive a few moments without COVID-19 today. For me, this is a reminder about how day to day struggles differ for everyone. Check this one out.
At my job, we talk about making our company better, and making it personal. We’re a business-to-business life sciences company bringing new hardware, software and processes to our customers — who are researchers, clinicians, and drugmakers. We believe in a world where access to life-changing therapies transforms human health. And you know how it is with a high-falutin’ vision — could it ever really happen? If the mission describes the steps necessary to get there, I think so. And with the right personal stories that describe actual patients, getting therapies that they couldn’t get before, you gain purpose in coming to work every day.
Here’s a recent example. At a recent company gathering, we learned about Roy, a four-year old boy who has been living with spinal muscular atrophy, or SMA. This is a dreadful genetic disease that causes muscular atrophy, leading to an inability to walk, eat, and even breathe. And it’s incurable. Thanks to the latest medical advancements, there is hope. Roy is getting an experimental treatment that is helping him gain strength. This story helped us see the direct impact of what we do professionally to help pharmaceutical companies bring therapies to market faster. But the bare truth is that Roy’s story serves to remind us all that though we are fragile, we humans are hopeful…and resourceful.
We made the story into a podcast episode…you can listen here on Spotify (Apple link below), and read more about things we were thinking before, during and after the recording.
This is Roy with his mom, Maja Ödmann, and his dad, Hugo Muhrbeck.
In 2015, Hugo and Maja, first-time parents, realized that Roy wasn’t developing the way other kids were. It took a few visits to the health care professionals to get the attention they needed, and then… then, the news was devastating. How should it feel to hear that your child will not develop and grow to be healthy and strong? I have no answer here, which I am of course grateful for every day.
Lucky as well, is that Hugo and Maja do not live far from our offices in Sweden. They were willing to open their home to me with the microphone. Maja, it turns out, makes her own podcast on living with a child with SMA. It’s in Swedish and it’s called Sjukt Liv.
We settled down into a sofa, and they recalled the moment of diagnosis. Maja was in disbelief — but Hugo, who is going to medical school, knew the depth of the issue. Maja described how she reluctantly came around to Googling SMA, and understanding that the life expectancy of her child, her first-born, her only son, could be painfully short. Hugo and Maja started asking immediately about clinical trials and nearly didn’t make it, but squeezed into a trial in Gothenburg — on the other side of the country.
Fast forward a few months, and Roy was worsening. At the lowest point, he could only move his eyelids. Maja and Hugo found out that Roy had been in the control group; he was not receiving the experimental medicine. It was honestly a gut punch to listen to them describing these moments. My kids are healthy. Why do I get to be lucky and they didn’t? The combination of Maja’s DNA and Hugo’s DNA gave Roy this SMA. It was no one’s fault, and now there was an experiment helping other kids, but not Roy.
Medical ethics stepped in, thankfully, and the positive results from the other patients led to the decision to provide the medicine to all of the kids in the study. There was hope for Roy, at last.
It’s now a few years later, and Roy is gaining strength and exercising with help. When I visited, their house looked almost like every other home where a young child lives and rules the roost… toys scattered, laundry almost folded…as a mother myself, I totally recognized the scene. The difference? The motorized, specialized bed in the living room. The body-shaped frame, into which Roy could fit so he can stand.
I asked Hugo and Maja what they hoped for Roy in the future. Hugo answered without delay: “I think Roy might work with computers.” This was the most marvelous response — and unexpected. Roy loves trains, and he loves buses. Despite adversity, Roy is like any other four-year old boy, thanks to the perseverance of his parents and the new therapy.
To find out more about this new therapy, we called across to San Francisco, California, to meet Max Moore with Ionis Pharmaceuticals. Max is Director of Manufacturing and Pharmaceuticals at Ionis, which is making the experimental drug that is helping Roy. Our company provides tools and processes that help Ionis do that. The drug is in the category called “oligonucleotides” — targeting RNA, used in a wide range of applications in genetic testing, research, and forensics. Wikipedia says Oligonucleotides are characterized by the sequence of nucleotide residues that make up the entire molecule. Max says that oligonucleotides have probably helped you at some point in your life, but you wouldn’t necessarily know it. Listen to the podcast episode for more on that.
To come back to the start of this story — oligonucleotides are personal treatments. They make huge differences for patients. Max Moore is like us, in that he says: “I always see the face of a patient when I’m working in the lab.”
Max, Hugo, Maja and Roy are four reasons I love coming to work, and I love being able to get in touch with the patients and their stories — whether in our backyard or across an ocean. These are the tidbits from behind the microphone that didn’t make it into the final cut of the story, but I hope you’ll listen to the full episode here on Apple podcasts (Spotify link above.)
