Our one-of-a-kind EB Connect community is made up of individuals and families from around the world who are navigating life with EB. The EB Connect Spotlight series highlights these individuals and their unique stories. Today’s spotlight shines on Jan Marhefka, a Registered Nurse and mom to 3 from Ohio who lives with Recessive Dystrophic EB.
1. When were you diagnosed with EB? Please tell us about you and your family’s journey learning about the diagnosis.
Presented shortly after birth with blisters all over my body. In 1971, did not know what it was and of course, thought I was contagious so they had me in an incubator for a couple of weeks. I was diagnosed at an early age but not exactly sure what age. My mom and I would make many trips down to Cincinnati to see all kinds of specialists. I remember sitting in a room and having doctor after doctor come and look at me since I had a “rare” disorder.
2. What are some challenges, if any, that you have faced as an individual with EB? How did you learn to overcome them?
So many dental issues and so many frustrations with no dentists with knowledge of EB. No medical coverage for implants and I have 7. My teeth are really bad and I am constantly having issues with this.
After I had my kids, my scalp itched terribly, blistered and caused scar tissue. I always had thin hair, but this made my hair loss much greater. I have struggled with my hair loss and finally purchased a wig in 2014 and have been wearing a wig ever since.
Blistering all over my body that I deal with on a daily basis; dressings/pain/itching.
I have had my throat stretched at least 20 times. I try to go once a year to have this done now.
3. What brings you hope/joy when you’re having an especially tough day?
I enjoy hanging out with my friends and family. I talk to my sister every day and vent if I need to and I have a core group of friends I can talk to as well.
4. Have you ever met another person with EB? If so, what was that experience like?
I have met people online or in passing but no one that I see on a daily basis and confide in. I have a “mild” case, so the ones I have met are more severe.
5. Has living with EB affected your work as an RN or shaped the way you interact with patients?
I have always wanted to be a nurse. I am not sure EB has shaped the way I interact with patients except maybe for those with annoying chronic disorders that I can relate too.
6. What other hobbies do you participate in to pass time? Does your EB present any challenges in any of these?
Growing up, I played sports. I played 3 sports all through middle school and high school and even played basketball in college. I was very active and just dealt with the blisters that came from that. As I have aged, I blister more easily and would not play any sports due to the blistering it causes in all areas of my body.
My friends and I like to go listen to music and sometimes there is dancing involved. I find that when I am more active, I will blister more, but I don’t let it prohibit me from having fun.
I try to be active with walking and/or going to the gym. I sometimes struggle with walking because the friction causes blisters. I have to be very selective with what excercises I do. I can’t sit a certain way or I can do the leg machine because it causes friction with my backside and I get blisters. I struggle finding shoes that work for me.
7. Please share with us your dreams and aspirations – both immediate and long term.
I have always wanted to be a nurse and I have been one for almost 29 years now. I always wanted to have kids and I have a 24-year-old son and twin 21-year-old daughters. None of them have EB! I just want to be happy. I want my kids to be happy. I want to surround myself with family and friends and live life. I would like to travel at some point a little more. I want to continue working in a profession I love.
8. What message would you like to share with others impacted by EB?
I know I have a “mild” case but the daily struggles are real. The daily looks from people are annoying. The looks from doctors that don’t know about EB and not believing you when you tell them you have it. I feel the struggles with you and admire anyone who has to tolerate this.
9. What message would you like to share with those who don’t live with EB?
We tend to hide our pain well. We have a high pain tolerance. Please do not take the times that we are quiet personally. We struggle with a lot of things every day and we are doing our best.