It was an amazing opportunity to be able to sit down with Rare Disease Report to talk about my experience with Gaucher Disease, as well as to be recognized as the founder of Gaucher Stories. Though my platform is small right now, I will continue to use it to spread awareness because the more people know about it, the less misdiagnosis we will have.
See some clips of my interview on Rare Disease Report’s website.
See all of the clips from my interview on the Rare Disease Report Youtube page.
I was only 5 years old when a doctor from J.M de Los Rios in Caracas, Venezuela discovered I had Gaucher type 1. I was always sick, had nose bleeds, bruises, fatigue and my stomach was huge. When I was younger, I fractured my left leg, the doctors didn’t know what was happening to me and why I was always sick.
That day, I had a high fever and my mom took me to the emergency room and that day a genetic doctor was there and studied my case. My mom explained to the doctor that I always had pain on my legs. It was the worst pain, as if having a child without any medication. My leg would get swollen.
There was no treatment for Gaucher type 1 in 1991 available so the doctor recommended Ceredase. It was very expensive to get because the medical insurance in Venezuela is horrible and my mom was a single mom with two jobs. I was only able to rely on Ceredase every 6 months.
My name is Leanna Mullen. I am a TV Station Manager at EHT-TV in Egg Harbor, New Jersey. I am 27 years old and currently studying for a Master’s in Instructional Technology at Stockton University. In the little free time I have working full time and attending graduate school with a full courseload, I own a video production company called “Film Reel Productions.” I’ve been awarded several opportunities which has lead me to where I am today and I am very grateful for the path I am on.
Oh yeah, and I have Type 1 Gaucher Disease.
I am 44 years old and I was diagnosed with Gaucher Disease at age 5. The doctor felt that my spleen was enlarged and as I was growing up, as a teenager, I was always very tired. I was working two jobs. I would go to my first job, come home to sleep, then go to my second job. After high school, I started working one full-time job with benefits.
I began treatment in 1999, but before that I was gaining weight. Ever since I started my treatments I feel better, and I still get Cerezyme infusions every two weeks.
My name is Brittany, I’m 24 and I have Type 1 Gaucher’s Disease. All my life I’ve been tired. Very tired. As a child I played every sport you could think of. But mainly I was a competitive dancer throughout High School. I slept through an entire dance practice the night before a competition and won an award for that. Kind of funny looking back on it. Every teen is tired, so we never looked into it. I bruised easily, my joints hurt and I had low energy. Every car ride I would fall asleep instantly. (And I still do.) I thought that was part of being a teen. So did everyone else.
I never really got sick to where I had to be hospitalized. Looking back, there were lots of signs that should have led to more than the EKGs I had on my heart. My father passed away from an aneurysm in his stomach, cardiomyopathy and his spleen was enlarged. He was just 23. Just two years older than I was when I got diagnosed with Gaucher’s. I believe that he had it. Although nobody in my family has gotten a genetic test. Which makes me frustrated.