Mix Talent Celebrates Local Rare Disease Heroes
Mix Talent is proud to recognize Rare Disease Day 2021 by celebrating 6 heroes in our local Columbus, Ohio rare disease community – an Explorer, a Supermom, a Champion, a Rockstar, a Luminary, and a Builder. All are making a difference and are authors of their own stories in rare disease.
Read about each of the heroes below and learn more about how you can support those who are researching treatments and solutions for rare diseases.
Kathrin C. Meyer, PhD
EXPLORER
I got into rare neurological and neurodegenerative diseases through my research on Spinal Muscular Atrophy back in Switzerland. I was touched by the stories of the patients affected by these devastating conditions and by the strength the families and foundations exhibit to keep fighting for better treatment options. My work and my encounter with these diseases really changed my life, I am very passionate about the work we do and I know it matters because we do it for all the patients and families out there that are fighting.
I think new methodologies such as reprogramming methods allowing to generate cell types of the nervous system from patient skin or blood cells have really revolutionized testing of therapeutics. These technologies lay the ground not only for faster therapeutic testing, but also might in the future be used to determine best treatment options for a specific patient or a subgroup of patients with similar mutations. I am also excited about the incredible advances that were recently achieved with multiple forms of genetic therapies such as antisense oligonucleotides or viral vector gene replacements. I think we will be seeing many more of these succeed in the near future and have an incredible impact on severe diseases.
I am passionate about finding solutions and treatments for patients suffering from severely debilitating and life-threatening diseases. The patients and families are incredibly strong and beautiful and I do want to do anything I can to support them and hopefully impact some of their lives.
I would say for a person living with a rare disease, thank you for sharing your stories or donating samples to research if you can, even if oftentimes this research does not benefit one person directly, but it helps moving the needle step by step and it would not be possible without your help. The stories are incredibly motivational and keep me and my team going every day, even during times we face difficulties or frustration. For a colleague my advice is to be confident in your own research findings even if they don’t always point in the same direction as the general research field. We know so little about rare diseases at the moment, it is important to remain open minded, else one runs into the risk of missing out on interesting and important results.
Lana Julian
SUPERMOM
Our journey with Primary Immune Deficiency started with our son Lucas, being diagnosed at around the age of 5 years old. Lucas had chronic infections from the time he was six months old. He had what seemed like on-going ear infections and pneumonia several times before he was a year old. Lucas was hospitalized several times for obscure infections that were often missed by the pediatrician or urgent care centers. These infections were not normal infections that a round of antibiotics would take care of and they happened too frequently for normal childhood infections.
Right now I am most excited about the fact that new rare diseases are being discovered and diagnosed more than they have ever been. These “zebras” are no longer being glossed over. I am excited about the studies out there looking at COVID and primary immune disease. Everybody in the world is being affected by COVID, but attention is being paid to this special group because of their already compromised immune systems.
Advice I would give to others living with a rare disease is do not let it define you. I always tell our son if this is all we have to deal with, I consider us very lucky. Is it hard? Of course is it, but we have to be thankful that we have a diagnosis and there are products out there to help you stay healthy and to live a relatively normal life. For the people working in rare disease my advice is to remember you are fighting every day for the people that often get overlooked or have been misdiagnosed over and over. Be the person to make a difference, you are saving lives.
Mike Triplett
CHAMPION
For as long as I can remember, I have been motivated to tackle the most challenging diseases and to fight for people lacking the power to fight for themselves. While early in my career at Battelle, those two motivations aligned when I was exposed to innovative cystic fibrosis therapeutic research. Shortly thereafter, I joined the Cystic Fibrosis Foundation Central Ohio Chapter board and a Nationwide Children’s Hospital internal technology investment committee. Through the CFF board, I realized the immense burden, and just how lonely of a burden, of rare diseases on patients, their families, and their caregivers as well as the uplifting hope provided by novel therapeutics being pursued by researchers at institutions like Nationwide Children’s Hospital. I wanted to make a difference; in 2017, my colleagues and I formed a gene therapy company, Myonexus Therapeutics, to commercialize pioneering gene therapies for limb girdle muscular dystrophies invented Myonexus co-founder, Dr. Louise Rodino-Klapac, at Nationwide Children’s Hospital which we later sold to Sarepta Therapeutics.
I am most excited about two things in rare disease treatment and research: 1) the incorporation of patient voices in novel therapeutic development, and 2) the rapidly accelerating impact of genetic therapies on rare diseases.
I am extraordinarily passionate about translating world-class science into transformative therapies for the benefit of patients globally and for the economic development opportunities that result from innovative enterprises.
For those working to develop innovative therapies for rare diseases, I implore them to press on despite seemingly insurmountable scientific barriers. Our friends in the rare disease community deserve nothing less, as their burdens demand that we persevere. I firmly believe our recent clinical successes are merely the beginning of the genetic medicine revolution.
Amanda Varcho
LUMINARY
I have antiphosholipid syndrome (APS), a rare disease where my immune system works improperly, making antibodies that attack the phospholipids in my cells. This causes blood clots, difficulties with pregnancy, and most often affects the limbs, brain and lungs. For years prior to having surgeries and receiving a diagnosis, I had unexplainable numbness, painful throbbing and circulation issues in my arms and legs. This impacted my self-esteem in ways I can’t even describe and took a toll on my physical and mental health.
It is because of my incredible surgeon, nursing staff and doctors that I now have a medication regimen and regular blood tests that help me live a normal life. It is because of them that when I went to the ER, no longer able to walk that they found a deep vein thrombosis and performed surgery that saved my leg. It is because of them that I regained feeling in my leg and finally had relief from the pain I’d felt for years in my other extremities. These individuals kept me going when I wanted to give up.
While there is no cure, I look back at my journey to health and can say that I wouldn’t be here today as I am without the incredible men and women who took charge of my care. I hope that someday a person who experienced what I did will find a diagnosis sooner, that there will be breakthroughs in testing and medication and eventually a cure. Until then, I am forever grateful for the lack of judgement, support and care from my medical staff who helped me to heal physically, but also mentally.
Rare disease doesn’t define us, but it does make us grateful for every scientific breakthrough that helps us live a better life. It is because of my own experience that I am continually excited about innovations and investments that go towards rare disease. Every discovery gives someone the potential for a better quality of life, and I could not be more grateful that there are so many intelligent individuals and caring companies using science to better humankind.
The experiences I have had impact my work every day. Who I engage with in my work could change the lives of children who don’t have answers and assist adults who have waited for a resolution to their lifelong problems. I am reminded of this everyday through my disease, making the work we do at Mix Talent so worthwhile, impactful and inspiring.
Dustin Clark
ROCKSTAR
I grew up surrounded by music. My parents taught me piano and guitar as a child, and I wanted to write songs from a pretty young age. But I was diagnosed with Becker’s Muscular Dystrophy at 10 years old, and my physical limitations made playing instruments difficult. However, through modern recording software, I was able to break down my guitar parts into smaller, more manageable sections, and get the song ideas in my head out into the real world. All these years later, I am learning to embrace my limitations and build a musical identity out of them, counting my weaknesses as strengths.
I love seeing disabled people come out of the woodwork in mainstream media. Advancements in treatment and technology are making it possible for more and more disabled people to express themselves. We are able to have more and more independence as research grows. We don’t have to be stuck inside watching the world pass us by. I can’t wait to see what the future holds for disabled creatives.
I’m passionate about all aspects of music, spirituality, and using creativity to solve complex problems in the world.
To those living with a rare disease: learn to embrace the life you’re given, in all it’s imperfection. Don’t sit around wishing you could be somebody else. If you can learn to accept yourself and your disabilities and abilities, it’s possible to build a joyful life around it.
To those working in rare disease, remember that we aren’t just a “problem” to be “solved.” It’s not all about fixing something that’s broken. We can find happiness in our lives as they are, not just how they could be. While you strive to find cures and treatments for the future, find creative ways to help us thrive in the present.
Mayo Pujols
BUILDER
I’ve been involved with the research, development and production of therapies for various types of rare diseases during the last 7 years. I’ve been so moved to see the positive impact of pioneering breakthrough treatments like CAR-T, immunotherapies, cell therapies, and gene therapies on the lives of patients worldwide. For many patients, these treatments have been cures while for others a significant improvement in their quality of life. It has been one of the most rewarding assignments of my career and I’m humbled to have played a small part in bringing hope to patients and their families.
The number of promising new treatments in product development and entering clinical trials continues to steadily grow. There’s tremendous tailwinds in the overall space. This will lead to products with improved efficacy, safety, access, and costs. There are now multiple therapies in clinical trials for rare diseases where there were no previous options for patients which is very encouraging. Translational science is also rapidly advancing and every day we gain a better understanding of how the human body works and how to address these diseases.
I’m motivated by a desire to find new ways to tackle the tough and uncurable diseases. I really enjoy working in collaboration with many colleagues to transform the lives of children and adults.
I would ask patients to stay positive and continue to be their own advocate. There’s a lot of momentum in medical science to find solutions that will ultimately bring you relief. I would ask those working in the space to not give up despite the numerous technical challenges and failures.
Below are some of the favorite non-profits that our Rare Disease Heroes recommend if you want to help support rare disease treatment, research, and awareness.
