In honor of Rare Disease Day on February 28th, we asked Leanna Mullen to answer a few questions for us. Leanna has Gaucher Disease, a genetic disease often referred to as “one of the rarest of the rare diseases”. Gaucher occurs when a lipid called glucosylceramide accumulates in the bone marrow, lungs, spleen, liver and sometimes the brain, which can lead to enlarged liver and spleen, excruciating bone lesions, and many other difficult to diagnose symptoms.
Leanna is a student, data coordinator, business owner, and Gaucher Partner who educates others living with the disease. We asked her to tell us more about how she balances it all and what it’s like to live with a rare disease.
Please tell us about yourself: I am from outside Atlantic City in Mullica Township, NJ. I am a senior at Richard Stockton College studying Instructional Technology and minoring in Digital Literacy and Writing. I am also the Data Coordinator in a K-12 school district working in the technology department and own my own video production and photography company called “Film Reel Productions.” I am hoping to complete my degree and become a Media/TV Teacher or a Technology Integration Coach to combine my love for media technology and education.
Please tell us about your family: I’m married to my high school sweetheart, Eddie. We have two dogs and two turtles. Gaucher Disease is most common in people of Ashkenazi Jewish descent, but my family tree is rooted in Italy. My sister is a carrier, but no one else on either side has it.
What made you choose this career path? My middle and high school years were some of my most difficult coping with Gaucher Disease, but it also was a time in my life when my teachers made a huge impact on the person I am today. I was very interested in broadcasting and video editing growing up and I was excited to be part of my school’s news program. But, when my course schedule had to be rearranged to accommodate infusion treatments, I was forced to give up my Media class. I was devastated. My teacher knew how much the course meant to me, so he gave up his lunch every day for the rest of the year so I could stay in the program. I love seeing that same compassion from my colleagues every day and it is my hope I will have the same impact on other students going through difficult times.
When were you diagnosed with Gaucher Disease? What were your symptoms? I was 15 when I was diagnosed at Children’s Hospital in Philadelphia, PA, but it had been several years coming to that conclusion. From the time I was a toddler, I had issues with my teeth. I would bruise very easily and always had unusual results from blood work. When I hit puberty, I had a menstrual cycle that lasted over 100 days straight. I also had an enlarged spleen and liver and my platelet counts were outrageously low. After eliminating Von Willow Brans and Leukemia, I had a bone marrow biopsy that confirmed I had Type 1 Gaucher Disease. It was weird to find out I had a genetic disorder that neither of my parents had. I figure it just made me one in a million! (Or at least one in 40,000!)
What is life like today with Gaucher Disease? It’s amazing how far Gaucher Disease has come with treatment options and management plans. We still have a long way to go bringing awareness to family practitioners and specialists, but more patients are being diagnosed (and sooner) than ever before. I think there are also more support systems in place for families so they know where to turn.
How has life changed since being diagnosed? Now that I am on a steady treatment plan, I often forget I have any ‘weird genes’. As I’ve gotten older I’ve experienced some fractures and joint pain, but as long as I’m on a treatment plan they are few and far between. I have a lot more energy and my symptoms have subsided dramatically. I feel like I have a network of support from several people I’ve met and those who have helped me along the way. I used to feel obligated to share my diagnosis with those around me because I was always tired or missed a lot of school or work for medical reasons. But now, I share my diagnosis to bring awareness about what a hidden genetic disorder can look like. I also like to remind people that with a positive attitude you can overcome anything.
What do you want people to know about Gaucher Disease? I want people to know there are more causes to rally behind. Gaucher Disease is still a difficult disorder to live with, especially for Types II and III as there is no treatment for them (yet). People with Gaucher can also go through good days and bad days (I’ve had plenty on both sides of the fence), but I have not met a single patient who I have not been personally inspired by.
How did you become a Gaucher Partner? I was approached by a member of the company that sponsors the program who knew how involved I was within the Gaucher Disease community. I had been active with several events hosted by Children’s Hospital for Lysosomal Day and I had created a PSA for Gaucher Disease. He knew it was right up my alley to share my story and I’m so glad he thought of me for the program!
Why do you enjoy being a Gaucher Partner? I enjoy the opportunity to hear from other Gaucher patients and families. I think I get more out of hearing from them than they do listening to me.
What was your most memorable program/moment as a Gaucher Partner? After I gave my first program a member from the audience stood up during the Q&A session to address the program organizers. She went on to say how much she learned from having me as a patient speaker and how important the program was to her. Her comment was followed by applause from the entire audience. In that moment, I realized exactly how valuable the Gaucher Partner program is to patients.
Is there anything else you want to share? I am incredibly thankful to the staff at VPR. I feel like a part of their family and I look forward to catching up with them like their old friends. They make me feel like my contribution is valuable and offer great feedback to strengthen my skills from speech writing to public speaking. Even the flawless transition and backend planning of travel and programming does not go unnoticed.
Thank you, Leanna, for telling your story and educating us on Gaucher Disease! You are truly an inspiration to us all!