“A lot of patients and caregivers are fearful to step up to the plate to advocate. But with a little education, research and confidence, you can step forward.”
Kim Marincik and her two sons have a rare disease called Danon, and Kim has been sharing her story and advocating for fellow patients for over a decade.
Kim founded the Danon Disease Support Group on Facebook in 2009 and then co-founded The Danon Foundation in 2020. Through her work, Kim aims to support patients and bring families closer together, showing them they aren’t alone in their experiences.
We spoke to Kim about her personal journey, her son’s participation in clinical trials, the work she does as a patient advocate, why she does it, and why this work is so important.
What has been your experience of clinical trial participation?
I’ve been both a patient and caregiver for Danon disease. It’s been a rough road, but I continue to put one foot in front of the other and keep going. As a female patient, I’m not qualified for a clinical trial at the moment so my team of doctors are treating my symptoms until a trial is available for me.
My oldest son, who’s now 20, was diagnosed at age four and was chosen as one of the first three patients to do the clinical trial offered for Danon disease. He had a hard time growing up because he was always in hospitals or at doctor’s appointments. Today though, he continues to thrive and is doing well in life. He’s stable now, and at home.
Being my son’s caregiver has had its challenges. We’ve had to travel many times to the University of California San Diego (UCSD) where the trial took place. It’s been a blessing to have patientprimary help us coordinate everything from hotels to rental cars, to money on hand for food, etc. That was one less thing I had to do as his caregiver.
Hopefully, someday we can move towards a trial for females. The focus right now is on pediatric male patients, since their symptoms are more severe and present at a much younger age. There is, however, a natural history study that all Danon patients can participate in, and I encourage any female patients to look into that and sign up. Visit danonfoundation.org for more info.
What were the biggest challenges you faced in terms of clinical trial participation?
The biggest challenge has been my son’s high anxiety about medical procedures, tests and appointments. Anxiety comes with Danon for most patients we have gotten to know over the years.
Both my boys are on anxiety medication. When they started to realize the effects Danon was having on them, it scared them so much they would cry and shake their hands saying: “Help me, Mom.” They didn’t understand what was happening with their body.
I would try my best to prepare them for each appointment and tell them what we were going there to do. Sometimes it was just a doctor’s appointment to talk, other times it was to get blood, or have a procedure. The hospitals have a department called “Child Life” and they were great at the Children’s Hospital. They helped my boys feel at ease with activities like coloring, movies, games, VR headsets, and therapy dogs. Their faces said it all when they knew what we were there to do, yet had this distraction to help them through the process.
As they have grown older and one is now an adult, he has been in therapy to help him learn tools to get through the scary times.
Why did you choose to become a patient advocate?
Most of my family has Danon disease. When I had children and we found out they had Danon, I wanted to reach out to others. But there were no “others” like us. So, I decided to start a support group on Facebook.
“When I had children and we found out they had Danon, I wanted to reach out to others. But there were no ‘others’ like us.”
Here we are now, thirteen years later, and it has grown from 30 people to over 300 members. Some are doctors, some are caregivers, some are patients and others are family members just wanting more support. In 2020, I decided to start the Danon Foundation with two other Danon moms, and that has been an amazing journey so far.
Can you give an example of the type of work you do as a patient advocate?
I answer any and all types of questions from patients and caregivers who don’t fully understand this rare and incurable disease. I always tell the support group that I’m an open book, and I will help them to understand this disease as much as I can. I also point them in the right direction for care if I know of a center with doctors who have treated Danon patients.
Now that the Danon Foundation is up and running, we’re able to educate more families and spread the word more easily. We share information about Danon through social media, monthly Zoom calls, newsletters and having information available on our website.
Why do we need more patient advocates?
The most important role of patient advocates with a rare disease is to educate the community about the disease. A lot of our patients don’t know anything about our disease when they’re first diagnosed, and the first thing they do is run to Google. Not only will this scare them, but it will also give them misinformation as things are always changing in the medical world.
“As advocates, we can direct and support families through this journey and make the entire clinical process a bit easier to navigate.”
Currently, there are natural history studies going on in Colorado and San Diego as well as clinical trials in Colorado, San Diego and Philadelphia for Danon disease. As advocates, we can direct and support families through this journey and make the entire clinical process a bit easier to navigate.
What would you say to encourage more patients or caregivers to step into patient advocacy roles?
I would say to research and educate yourself about your disease. Once you feel comfortable enough, reach out to others who have it.
I have had Danon disease in my family for my entire life, and 43 years is a long time. I’ve grown up with it, and now I’m dealing with it myself and through my children. However, a lot of patients and caregivers have never even heard of it, and they’re fearful to step up to the plate to advocate. But with a little education, research and confidence, you can step forward and take on the role of advocating for those that are just finding out.
How can people get started in patient advocacy?
Find support groups, foundations, and ask how you can help. If there are no support groups or foundations out there for your disease, start a group or foundation of your own. Slowly, you will see more and more people reaching out, asking questions and getting answers. Then, you will be able to advocate for your disease by sharing your own knowledge, experiences and stories.
