Rare Disease Day Heroes 2023
Mix Talent is recognizing Rare Disease Day 2023 by celebrating rare heroes from across the country whose initiative, advocacy, and perseverance are making a difference in the lives of others.
Below, you can read about why our heroes were inspired to take action and how they are working to raise awareness and support those who are living with a rare disease and those who are researching treatments and solutions.
Audrey & Jen Wenzke
THE WONDER WENZKES
My daughter, Audrey, spent the summer of 2022 dealing with a number of odd symptoms, like fatigue, weight loss, and difficulty walking. Then, on September 13, 2022, she was diagnosed with B-cell lymphoma. Doctors found a tumor growing in her chest that was pressing on her organs and wrapping around her trachea, cutting her airway down to approximately 10% of what it should be.
Audrey began chemotherapy less than a week later, on September 17. Since then, we’ve spent a lot of time at Nationwide Children’s Hospital. Audrey is also part of a nationwide research study, so part of her chemotherapy is an immunotherapy drug that has been proven very effective in other types of cancers.
The effects of the chemotherapy treatments have been positive, and they help her feel better physically, but the side effects of chemo have been difficult. Audrey has lost her hair, she has to contend with bouts of nausea, and struggles through horrible mouth sores.
When she’s feeling up to it, we do as much as we can to help Audrey lead a normal life. She’s passionate about volleyball and shopping and all the other normal things girls her age are into. She’s so thoughtful, too, and always wants to do little things for the other kids on the 12th floor of Nationwide Children's Hospital – the cancer floor – like giving them Frosty coupons and other little gifts, or bringing bagels for the staff.
Seeing my child go through such hard times – being sick, being in pain – is an experience that I struggle to put into words. But she keeps surprising me with her strength and her heart. Through it all, Audrey still has this caring light inside of her that hasn’t dimmed, and she still takes the time to think about how she can make others’ days a little brighter.
When people learn that Audrey has lymphoma, their usual response is something like “That sucks,” and they ask how we deal with it. And they’re right, it does suck. But we’ve learned you have to embrace the suck. Cancer’s going to suck whether you like it or not. So we take each day at a time, and we make sure to take advantage of good days, and know that it's okay to have bad days.
And if it’s a bad day, when help is offered, we’ve learned to embrace that too. I’m still surprised at how many people in the rare disease community are ready and willing to help you with all sorts of things you didn’t know you needed help with. I don’t know where we’d be without NC4K. I love NC4K! They have been there for us every step of the way. They even decorated our house for Christmas and threw a Christmas party for the whole family with gifts for the kids and adults. Their help has been tremendous.
Sweta Girgenrath
THE RELENTLESS
I am the Head of Neuromuscular & Cardiovascular Therapeutics at Entrada Therapeutics. At Entrada, we are developing a proprietary delivery platform to efficiently target therapeutics to intracellular disease-causing molecules, and our first few programs are in the Rare Disease space – specifically for muscular dystrophies.
It was serendipity when, years ago, I landed a job working in a regenerative muscle biology lab. I started working on a mouse model of ultra-rare muscular dystrophy, and I ran with it – learning everything I could about the disease model, the disease, and the families afflicted with this ultra-rare form of muscle disease.
For the last 20 years, I have worked at the interface of the complex pathophysiology of rare and ultra-rare muscle/cardiac disease and therapy. In this capacity, I have worked closely with my clinical colleagues treating rare disease patients and many patient advocacy groups dedicated to rare diseases.
We are in a tremendously exciting time in the rare disease space. We have so many ongoing clinical trials, we have approved drugs, and we are in the realm of personalized medicine, which was unthinkable a few years back! Rare disease is slowly emerging as a public health priority.
We are also working in an era of science that puts patients first, and that’s also tremendously exciting because of the benefits it will have on those patients. There’s, of course, still plenty to do and a long way to go. The task we’re undertaking working in rare disease is herculean, but we don’t give up. There is no giving up.
That’s why I’m grateful for organizations like The Muscular Dystrophy Association. For muscle researchers across the world, MDA has been instrumental in getting their research off the ground!
Effie Parks
THE BEACON
Since my son Ford was born with a rare disorder called CTNNB1, there’s been no part of my or my family’s life that hasn't been impacted. After getting his diagnosis at 16 months old, a diagnosis that at that time had affected only 30 people in the world, it was extremely isolating. I eventually created the Once Upon A Gene podcast to find my people and help share stories and resources for others in the rare disease community.
Once Upon A Gene has given me the most incredible and unexpected opportunities and friendships from around the world. I am extremely passionate about sharing our family’s story, and I feel so lucky to have the absolute honor to host this platform for others to do the same. I am also passionate about raising awareness and connecting others to the people and resources that can help them – with anything from helping their own mental health to starting a nonprofit and funding research for a rare disease.
And each year since I entered this rare disease world has blown the last one away. The science and the motivation is a live wire and it has ignited so many in this community to take action. This isn’t a pipe dream anymore, and it’s not out of our hands. It IS possible and there WILL be treatments, and the families and patient advocacy groups are the driving force. You will NEVER find a more motivated person than a parent raising a child with a rare disorder – especially when they were told there was nothing they could do.
I could (and probably will) write a book for families dealing with rare disease filled with the endless advice and inspiring anecdotes I’ve gathered, but here are 5 critical things I want everyone to know:
- Find your people: This is a non-negotiable, really. You will feel like you are out on a tiny rock in the middle of the ocean all alone. That isolation is real and it can consume you. But you need to know that you are not alone!
- Take care of yourself: And not a flashy social media kind of self care. Make your own doctors appointments, brush your teeth, create boundaries, sleep, eat healthy, ask for help and ACCEPT it.
- If you have the capacity – take action: Ask yourself what you’re good at and make a move. Maybe you can raise money for an org, maybe you can email legislators, maybe you’re good at navigating the medical system or the school system, or maybe you can start a podcast 😉 Know that you can be any kind of advocate and that every kind of advocacy for rare disease is important. Don’t be intimidated.
- Educate yourself: Learn as much as you can about the disorder, because you are most likely going to be the only person in any room who knows about it, including the hospital room.
- Know there is so much joy in this world: You will find a community that is unlike any other, and I promise you this will turn your whole soul inside out and you will know what matters and what doesn’t. This life has many gifts and there is so much value and gratitude you will discover.
Learn more about CTNNB1, rare genetic diseases, and find resources for parents at:
Kara Kamlowsky
THE EMISSARY
When I was 16 years old, I was hospitalized for gastrointestinal distress for the first time. My former healthcare providers falsely attributed my issues to anxiety and marijuana use, but one of many tests I underwent revealed an abnormality indicating I was suffering from Superior Mesenteric Artery Syndrome, a rare compression syndrome that affects the duodenum.
This abnormality was recognizable yet continuously dismissed by my healthcare providers who falsely told me only “anorexic people” are able to have such an illness. Many malnourished months later, more tests uncovered my Superior Mesenteric Artery Syndrome diagnosis and led to uncertain treatments, like NJ feeding tubes and eventually a surgical duodenojejunostomy. Although surgical intervention gave me some relief, it's likely my vagus nerve became damaged in the process, which contributed to my developing a second rare disease known as Gastroparesis, or stomach paralysis.
In the two years I've been living with Gastroparesis, I've received multiple NJ and J feeding tubes, been diagnosed with medical Post Traumatic Stress Disorder and have been hospitalized and under anesthesia countless times. I am only treating my symptoms, rather than my illnesses themselves, meaning I am still learning to navigate this unpredictable lifestyle with limited trust in my body.
Where I find encouragement is in the clinical trials and research regarding potential correlations of rare illnesses and other pathophysiological disorders. With more discoveries comes more opportunities for preventative measures, successful low-risk treatments, and potentially even cures.
I’ve seen firsthand that raising awareness for rare illnesses is so incredibly important. In my experience, lack of awareness of my illnesses in healthcare settings creates a mutual distrust within patient-provider relationships. The same can be said for certain interpersonal relationships. That’s why I try to seize opportunities to advocate for myself and my rare illnesses with anyone who is open to learning.
To those living with rare disease(s): You are never alone. There is an enormous rare disease community on most social media platforms; the members of which are willing to listen, support and celebrate you and your successes. For example, Facebook support groups provide excellent opportunities to make meaningful connections. These communities are safe spaces where you are free to ask questions, vent frustrations, grow your knowledge, and make friends – just to name a few reasons to consider joining.
To those working in rare disease(s): Thank you for helping rare disease patients, your work is incredibly important and not recognized enough. You are also rare disease heroes. I’d just like to kindly remind you to trust that there is a lot to learn from those living with rare diseases. We know our bodies best.
G-PACT, or the Gastroparesis Patient Association for Cures and Treatments, is a non-profit that raises awareness for paralytic gastrointestinal conditions. I’ve asked family and friends to support this association as they are conducting the largest international research study into Gastroparesis. Their establishment of August as digestive tract paralysis awareness month is an example of just one of many ways G-PACT has positively impacted rare disease awareness.
Melissa Russo
THE HEARTBEAT
I am a physician at the Women & Infants Hospital of Rhode Island, an affiliate of The Warren Alpert Medical School of Brown University. I’m also a rare disease advocate because of my work with patients with vascular Ehlers Danlos Syndrome (vEDS) and Heritable Thoracic Aortic Disease Syndromes (HTAD).
My first interaction with individuals with these conditions was a clinical experience during my training to be a specialist in maternal fetal medicine and clinical genetics. I was drawn to this field because I saw that obstetricians with expertise in them were absent from the table during discussions on care guidelines. I wanted to provide specialized care for these patients regarding reproductive health, pregnancy, and their gynecological care. Little did I realize that in addition to getting involved in the science and medicine, I would also become a part of a tremendously supportive community.
I have been a part of the vEDS and HTAD community since 2013, and during these ten years I have witnessed incredible growth in foundations, organizations, and collaboratives involved in research where people with these conditions are now sitting at the table, being part of the research team and having a role in the direction and the priorities of the research.
Additionally, there are exciting mechanistic drug advancements where research that started in animal models and moved to human pilot data are now moving to drug trials, and hopefully that means we can soon learn a great deal more about treatments for individuals with these conditions.
There is such a tight-knit community of patients and families with these conditions. When I first started to attend meetings and conferences, I was welcomed with open arms, and now individuals with these conditions are my friends and colleagues.
With each interaction, I am struck by the courage, compassion and generosity of people and families in this community. I am honored to be a part of a community bigger than me and to be able to provide guidance and care along the way.
With a rare disease, community is a vital part of your support and care, and it’s important to know that you are not alone in your journey. Know you are not alone and advocate for yourself – you know your own body and disease best.
As stated earlier, I am passionate about women’s health and specifically reproductive and pregnancy care for individuals with these conditions. In the past, people with vEDS and HTAD were all told to not get pregnant because of concerns in pregnancy, but we have learned that people with these conditions can have healthy pregnancies. It is important, of course, to consult with a physician prior to getting pregnant as there are risks specifically associated with pregnancy, but it is possible in many cases.
There are a number of excellent organizations committed to understanding and educating on diseases like vEDS and HTAD, advancing their management and treatments, improving patient quality of life, and developing a patient-centered plan for scientific research, like The Marfan Foundation, The vEDS Collaborative, and the GenTAC Alliance.
