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The following, as conveyed by Kristi Rasmussen, is slightly edited for formatting and style.
Tell us about your beginnings with Gaucher disease. How did you learn about it?
I started showing symptoms of Gaucher disease when I was 12 years old. I would have unstoppable bloody noses, bone crises, easy bruising, fatigue, enlarged spleen, and at age 18, my hip fractured on its own.
In between ages 12-18 I saw many doctors and specialists. No one could pinpoint what was wrong with me, until I was finally referred to a specialist in Salt Lake City, UT.
Dr. Kushner, who diagnosed me, sent me and my mom to New York for a week to have more tests done. I was in a wheelchair at the time, so it wasn’t easy to maneuver around airports, taxis, and hospitals, but my mom was a great help!
While in New York, Dr. Pastores gave me information on Gaucher Disease, treatments for it, and how to live a normal life while receiving enzyme replacement therapy. I also met others who have the same disease, and it was nice to know that I wasn’t the only one on this journey.
After we returned back home to Idaho, I had my spleen removed (on my birthday), and then a month later, I had a total hip replacement – three days before Christmas! My spleen was enlarged 25 times its normal size and weighed 3 1/2 pounds! I started on Cerezyme while in the hospital after my surgeries, and have been on it ever since – for the past 29 years.
I’ve had three kids between then and now and am so happy there is a treatment for this disease so I can enjoy my family and live a somewhat normal life.
How did you get connected with the National Gaucher Foundation? How has NGF helped you in managing your Gaucher disease and everything that comes with it?
I was assigned a case manager from the National Gaucher Foundation shortly after my diagnosis. I have had many case managers since and they have all been wonderful! They keep me updated on Gaucher meetings, any new findings, and help with insurance, which I am so grateful for.
The meetings I went to were so informative, as doctors and speakers who were well-informed of this disease were there. It was nice to meet and talk to other patients living with this disease and to hear their stories. The meetings also included a nice meal and dessert!
What message do you want to share with patients and families that are just beginning their Gaucher journey? Are there any lessons you’ve learned that you think they should know?
I remember that, after I was diagnosed at 18 years of age, it seemed to hit me hard!
I would have thoughts that I may not live very long, I was a little on the depressed side, and I thought there was no one to turn to. After having people from the National Gaucher Foundation reach out to me almost immediately after I was diagnosed, it gave me hope for the future and the support was phenomenal.
My advice is to keep your chin up, smile, and know that you are not alone in your journey.
Is there anything that you think the general public should know about Gaucher disease and the greater Gaucher community?
Even though Gaucher is rare, it is a disease and we still need support just like any other disease no matter how big or small it may be. I’m so grateful to be able to receive enzyme replacement therapy and happy that even though there is no cure yet, there is a way to survive.
If you could describe the Gaucher community in a few words or phrases, what would you say?
Caring, supportive, helpful
