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.
Fast forward to 1999. I’m the oldest of three girls, Karen (me), Naomi, and Jenni. In 1999 my youngest sister began fainting for no reason. She had low platelets and was anemic. She was first diagnosed with Lupus, then the diagnosis changed to Leukemia. None of these was correct. She finally went to the Mayo Clinic where they did a bone marrow test. Of course, it was discovered that she had Gaucher Disease. I then went to my intern and told him about Jenni. He looked at me and said that I do not have Gaucher disease. Stupid doctor. He isn’t my doctor any more!
My other sister and I were then tested. I am positive and she is a carrier. I was vindicated! My mom was then tested and she is a carrier. My dad had almost every symptom in the book, so we are guessing that he had to have it. Wow, if only they had diagnosed him! My husband was tested, he came back negative, which makes my 3 adult kids carriers automatically.
The American Gaucher Foundation was amazing. They gave me a caseworker who put me in contact with Dr. Gregory Pastores at NYU Medical Center. He started me on ERT infusions and I can’t even begin to explain what a difference that made in how I felt! Several years later we decided I would try the oral medication Zavesca. I was on it for five years and went off it because it literally ate up my insides! Dr. Pastores has since relocated to London. I’m now under the watchful eye of Dr. Helio Pedro in Hackensack University Hospital. I’m back on the infusions which I get twice a month at an infusion center in Livingston, NJ.
I am a huge advocate of telling my story to everyone. This disease is sooo misdiagnosed it makes me so angry! I have a friend who has some undiagnosed liver issue. I suggested she tell her doctor about Gaucher. He looked at her and told her she doesn’t have it. How can someone look at someone and say what they have and don’t have without a blood test??? Ok, I’m getting riled up now! Enough!
-Karen Friedman; West Orange, NJ