Last month the National Gaucher Foundation reached out to me with a few questions to answer for their new “Patient Journey” blog series. I shared some details in that post that you may not have known about already; I mention my incredible care team, the wonderful Gaucher family I have made online, and more!
Please check it out and let me know your thoughts!
Meet Lauren: Gaucher Disease Patient Journey
My name is Jenni Blustein and I have Gaucher Disease. I had just moved to Chicago from Detroit in 1995 at the age of 29. One day, while I was in temple, I suddenly felt like I was going to pass out, which I did. Since I was new to the city, I didn’t have a doctor yet. Thankfully, my new boss helped me find a doctor who told me that my platelet count was low. He sent me to a blood specialist at Northwestern University in Evanston, Illinois. After some tests, I was diagnosed with Lupus. I went for a second opinion, was given a bone marrow biopsy, and was then diagnosed with Leukemia. Neither of these diagnoses were correct.
I was born in England in 1963, the youngest of five children. From a very young age I experienced abdominal pain, had an enlarged spleen, excessive bruising and frequent nose bleeds. I had a poor appetite and sometimes couldn’t eat at all. My limbs were very thin, yet my stomach was grossly extended. Thanks to my older brothers I didn’t have to undergo countless tests or misdiagnosis like so many others. Two of my brothers presented symptoms early on, such as chronic bone pain and enlarged liver and spleen, and saw many doctors and underwent countless tests. When they were finally diagnosed with Gaucher, it didn’t take the doctors long to realise, I too had been born with the same rare genetic disorder. So at the age of 5, I had a painful sternum puncture performed under general anaesthetic, (in those days, this was the only way of testing for Gaucher) and it was confirmed that I had Gaucher disease.
I turned 58 last week, with Gaucher, and for me that is a pretty big deal.
When I was diagnosed I was five years old. I only knew two other people back then with the illness, my brother, Richard, and a girl that lived next to my grandfather. She died at 21, so my future looked a bit bleak. Doctors had little encouragement for me. It was a different time. Pre-enzyme meant that whatever Gaucher wanted to throw at me, I just dealt with. Hospital stays, spleen removed, bloody noses, decaying bones, and a litany of other annoying symptoms filled my days and thoughts. There was that early death everyone predicted. That was a worry. So I lived my life accordingly and made no long terms plans.
My name is Tamara Isaacs Ciocci and I have type 1 Gauchers Disease. It took 21 years to diagnose, 27 years to get enzyme replacement and 34 years to get the dose right. I have been diagnosed with rheumatoid arthritis at age 8, lupus at age 14, and leukemia at ages 8, 12 and 21. You might find my story interesting because my father, brother and cousin are doctors. In spite of all of this access, my father spent years trying to find a proper diagnosis to help me.
I was born in Los Angeles, California. I am one of five children…….two brothers, a sister and my cousin. They are all carriers for Gauchers Disease.
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.
My name is Karen and I have type 1 Gaucher disease. I am 57 years old and of Jewish Ashkenazik decent. I’ve lived in West Orange, NJ for 18 years.
Here is my story:
My father died at age 61 in 1992 of cirrhosis of the liver. He never smoked or drank. He suffered with liver issues, had his spleen removed, and was a bleeder. He was never diagnosed with anything and was treated only for his symptoms. My mom is still alive.
I’ve been tired all my life and had black and blue spots all over. After I had my third child in 1987, I started really feeling fatigued, so much so that at times I couldn’t get out of bed. I thought I had a brain tumor and was tested for that. No. I thought I had toxic shock syndrome and started using pads. No. I thought there was something wrong with our furnace and that it was leaking something. Had it checked. No. I was finally diagnosed with depression and given Prozac. My symptoms did improve a bit.