There is often less research on rare diseases’ symptoms than on other diseases. This is why it’s crucial to listen to and understand the unique challenges individuals with rare diseases face, as doing so can help develop bespoke solutions that can make a real and positive difference.
Here at mdgroup, we always advocate putting patients first. Listening to patients is vital for developing our understanding and determining how to create tailored patient experiences.
For Rare Disease Day 2023, we spoke with Karin Haski, Clinical Manager at mdgroup, about her experience living with a rare disease; US health care; misdiagnosis; and how she has navigated her condition to reignite her love of climbing.
Welcome, Karin. Thank you for joining us. Please start by telling us about your rare disease and your experience of living with it.
Unfortunately, my rare disease doesn’t have a name.
I’ve been sick my whole life and was misdiagnosed many times before being seen by a geneticist. The geneticist told me I had a rare genetic disorder. After running tests, she referred me to a research study in the US and to the UDN (Undiagnosed Disease Network), an international network for individuals with an undiagnosed underlying genetic disorder that doesn’t exist in medical textbooks.
The research study at the University Hospital informed me that what I had was incredibly rare. After running my results against other rare genetic studies worldwide, they couldn’t find a match. So currently, I’m the only person in the world with this disease.
Because we don’t know more about my rare disease, we don’t know exactly how it affects my body. Things happen that I’m unable to predict, and while we can determine that the condition is the cause, we don’t know how it will affect me in the long term.
What symptoms do you experience?
In addition to being hard of hearing and visually impaired, I also have significant weakness in my legs, which means I occasionally use a wheelchair for long distances. I also have a lot of GI and digestive issues and skin sensitivity.
It’s difficult to predict when my body will react to something. I have a condition called Mast Cell Disorder, which means I could be allergic to something one day but not another. My allergies come and go, so I always carry medication just in case.
I also deal with Postural tachycardia syndrome (PoTS). I regularly get infusions for that condition.
What is the impact of living in the US, a country that requires health insurance?
I’ve always been on health insurance. It’s very frustrating. We have to sign up for insurance annually in the US and pick a plan. Due to my chronic illnesses, I know I’ll meet my deductible out-of-pocket maximum — the most you pay in a year for medical expenses.
Every year, I put aside that money to pay for medicine. When looking at health insurance, I look at the big number first because I know I’ll reach it.
It’s frustrating because if you have to get an MRI, it costs thousands of dollars, or even a simple blood test, this one extra thing can easily cost $150.
Why don’t many geneticists work with adults?
Some people work with adults, but they have long waiting lists and tend to be based far away. Most geneticists specialise in paediatrics, cancers or pregnancies. If you’re an adult seeking a genetic diagnosis from a geneticist, you most likely won’t be diagnosed with a fatal condition.
Adults tend to be referred to specialists in areas like rheumatology because rheumatology is a sort of catch-all for unknown illnesses. A lot of adults right now who are seeking genetic disorder diagnosis tend to have something wrong with their connective tissue, which is something rheumatologists can diagnose. So for that reason, most geneticists don’t see adults — because they believe adults can seek other specialists.
I disagree with that, but that’s just how it’s always been. The health industry is hard to change.
The focus of Rare Disease Day 2023 is misdiagnosis. Your experience has been more about no-diagnosis. How has that impacted you?
As a female, I’ve been diagnosed with anxiety and stress more times than I can count. Doctors have told me I can’t handle work pressures due to my “uterus acting up” and that I should go to my gynaecologist.
Hysteria. I was diagnosed with hysteria so many times by male health professionals. Once I spoke to good doctors willing to listen to me, I discovered my diagnosis was never to be named. It took me a very long time to come to terms with it. Now I’ve accepted that I do have an underlying genetic condition, but I will never be able to call it something or be able to have the support of predictability of the disease process because of its rarity.
My favourite thing to say is, “I’m not like other girls”. I’m one in a million. No one else is like me because I’m the only person in the world with this condition.
It was difficult initially because we couldn’t predict what would happen. We had no idea I’d need a wheelchair before I turned 30 or that I’d wake up one morning completely deaf in one ear. It’s just one of those things you have to take as it comes. You don’t know what will happen with an undiagnosed, rare condition. All you can do is take it day by day.
Tell us about the climbing competition you have coming up. How did you get into that?
I’ve always loved rock climbing. I started competing in college. However, after college, I got sick and stopped climbing. I missed it so much that I just wanted to return, so I taught myself how to climb disabled. Someone reached out to me about a competition for disabled climbers. I competed, did well, and made friends through it too. They told me about a team that competes internationally. I applied for the team, thinking I wouldn’t make it, but I did! So I’m now part of the Adaptive Climbing Group or ACG — one of the US’s most well-known national climbing teams.We are sponsored by Adidas and Five-Ten, and it has been such a wonderful experience being on an elite sports team.
I went to our national training camp and met all my team members. And it was just mind-blowing to meet all of these adaptive climbers. We’re currently training to go to the national championships, with hopes to make it onto Team USA and compete around the World this year.
How has your experience living with such a rare disease impacted your career in healthcare and vice versa?
As a nurse, I used to work in the ICU at the bedside. Then, due to a combination of my health and burnout, I left the ICU and joined mdgroup. I didn’t come to mdgroup because they focus on rare diseases, but seeing mdgroup’s unique approch has fascinated me.
mdgroup is always about making a patient’s experience out of this world, and it’s incredible to feel heard when I have ideas that can bring about improvements.
How can we better understand and support people living with rare diseases?
The best way to support others is to ask the individual. Everybody who has a rare disease is different. One symptom or issue could be affecting one person differently than another. Just asking individuals about their needs and never assuming is the best way to make a real difference.
A huge thank you to Karin for being so candid and sharing with us her experiences of living with a rare, undiagnosed disease.
Interested in discovering how we can help you put patients first in your study? Get in touch.