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.
My name is Landon. I was born in Aug. 2014. When I was around 4 months old I kept getting sick. My doctor said it was just allergies,cold,bronchitis,etc. Around 7 months old I got really sick and went to the doctor. I saw a different dr that day and he said to rush me to the hospital that was 2 hours away because they were better equipped.
My body temperature was 92.7. I was very congested and my liver and spleen were huge. Before we left, the dr got my regular dr and reprimanded her about missing everything that was going on. I also had retroflexion and she said it was bad posture. We went to Memorial Health Hospital in Savannah, GA. I had all kinds of drs come in and check and in May of 2015 they found out I had Type 2 Gaucher Disease They started me on Cerezyme treatments in June.
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.
I am 36 years old and a family law attorney living in Orange County, California. My story is probably unique in the Gaucher community. I grew up relatively symptom free. I am not the most coordinated person, but was able to do fairly well in cross-country and track in high school. I even had the opportunity to run at the collegiate level. I had pain in my legs in high school, but my coach (and doctors) wrote it off as growing pains and shin splints.
In college, I certainly had aches and pains, but tended to ignore my body. I was focused on school, work and having fun and didn’t really have time to take care of myself. Although fatigue was certainly an issue for me, I constantly pushed my body to meet my scheduling demands. Sub-consciously, I think I always knew that I did not have the energy of my peers, which made me want to take on every challenge and every obstacle just to prove myself.
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.
I was diagnosed with Gaucher’s disease back in 1975 when I was 4 years old. During a routine visit to my pediatrician she noticed an overly enlarged lymph gland in my neck. After discussing their options, my parents decided to have it removed. My pediatrician consulted with several doctors and then sent the results to a friend of hers down at the National Institute of Health. Little did I know that her friend was none other then Dr. Roscoe Brady. If you do not know who he is, do a quick Internet search. You will quickly realize that anyone who has Gaucher’s disease owes him a debt of gratitude. After seeing the results of my biopsy, Dr. Brady told my parents to get on the next plane to Bethesda. That would prove to be the first of many trips my mother and I would take to NIH over the next 15 years.