In your words

In your words: Full of life

Born with Gaucher’s disease, Marie Babel explains how she never let the rare genetic disorder define her happiness or stop her from trying new things.

Marie Babel
I was diagnosed with Gaucher’s disease in 1969 when I was five years old. I was very easy to bruise, had frequent nosebleeds, constantly complained of stomachaches, and my abdomen was larger than it should have been. Doctors didn’t know what it was and didn’t know what to do. I was lucky enough to be referred to the City of Hope National Medical Center in Duarte, California and it was there that they were able to diagnose me.

Back then there was no treatment, so about every six months my mom and I would drive a couple of hours away to the medical center where they monitored my platelet count, growth, etc. Gaucher’s is a rare genetic disease in that both parents have to be missing an enzyme. My sister was lucky, she’s only a carrier of Gaucher’s. There are three different types and each affects people in various ways. With me, it attacked my spleen.

When my parents decided to move to a small town in Virginia I asked if I could have my spleen removed. I was 11 years old at the time and looked like I was probably six or seven months pregnant. Since my spleen was the issue, I thought “no spleen, no problem.” There were certain restrictions placed on me as a child, certain sports and activities that I couldn’t participate in for fear that my spleen would rupture, so it made sense to me to remove it. I was also extremely comfortable with my doctors at City of Hope and I knew that Gaucher’s disease would be foreign to the doctors in Virginia. Most didn’t know how to pronounce it, much less how to treat it or what to watch for. So, my parents talked with the doctors in California and they said they didn’t see any reason why it couldn’t be done.

When the doctors operated, my spleen weighed five pounds. It was hugely enlarged because of all the lipids that had accumulated. After my spleen was removed, all of the lipids relocated to my liver. But I didn’t learn about this until much later in life.
As a result of the surgery, I have a big, upside-down smiley face scar on my stomach. I still proudly wear a bikini, though. If someone asks, I’ve never been afraid to share my story about having Gaucher’s.

By being open to sharing my condition with friends, one day one of them called to say they had read an article in the New England Journal of Medicine about clinical trials that were being held for a new drug to treat Gaucher’s disease. That’s how I got involved in the trials. That was around 1991. This enzyme replacement therapy was the first treatment ever available for Gaucher’s.

In 1993, after the trials, I remained on infusion therapy and stayed on it for about 10 years. When the first oral drug became available, I switched over to that because of venous access issues. It’s a substrate inhibitor, so instead of replacing the enzyme I was missing, it inhibits the lipids from forming. Whenever I received treatment my whole approach was that it was providing my body with something I was supposed to have, so why should I have an adverse reaction? And, I’ve never had any issues with any of the drugs that I’ve been on for my Gaucher’s.

Throughout my life I haven’t let Gaucher’s define who I am. My disease does not manage me…I manage my disease. I decided to live my life to the fullest every day that I can, and always try new things. I’ve been zip lining in Costa Rica and I kayak or sail up in Vermont at my sister’s summer place, giving no thought whatsoever to my Gaucher’s. I love the beach and anything to do with the water. I also enjoy music, art and cultural festivals, and I absolutely love to travel.

Marie Babel
Marie and her sister Susan Lawrie in the Virgin Islands.

So, I’ve never had constraints in that way. The biggest challenge to work around was the infusion every two weeks. But thankfully I was able to get home health care. That’s something I recommend patients take advantage of, if they can. With home health care you’re much more comfortable and at ease as opposed to a hospital.

The treatments certainly help the symptoms. My liver volume reduced dramatically so in that essence it’s doing its job.

I’m so grateful that I don’t have a lot of bone involvement. I have constant generalized abdominal pain, though, and that’s a challenge in itself. You just cope the best you can. I tap on the brakes when the pain is too much, but I never stop. Then when I feel able it’s “pedal to the metal” again.  Also I’ve had a wonderful support network. My parents did everything they could to make sure I was getting the best care possible and my older sister was absolutely wonderful. She was very understanding and not at all resentful of any special treatment I received, and that means more than I can put into words.

Having Gaucher’s disease has taught me to have courage, endurance and faith. My parents fostered that in me, too. Even as a child I was very competitive and driven. They supported and encouraged me always, but they never gave in. They never just let me win…I had to play by the rules and win fair and square. At age four, I was very eager to start school. My parents supported that and researched until they found a school that would take me, as long as I could pass the admissions test, and I did with flying colors. High school was a different story altogether. I couldn’t wait to get out so I skipped my junior year. I graduated when I was barely 16 and started James Madison University that August. Four years later I finished with my bachelor’s degree and felt like I had a head start on my classmates, and the world.

My main source of inspiration and hope is definitely my family. When I was first diagnosed, my parents were told I probably had 5-10 years to live. It goes to show how little was known about Gaucher’s back then. Treatment was still 20 years away.  It breaks my heart thinking about it now, and how worried and awful that must have made them feel. They were just wonderful in how they handled things, though. They were very forthright about my condition and helped me understand it. The doctors at City of Hope were tremendous to me as well. My surgeon took me on daily walks. The nurses said they’d never seen that before. I thought the world of them, and they sure made me feel special.

It is amazing to have been able to witness groundbreaking research with Gaucher’s in my lifetime. Raising awareness is very important, and making sure that people know that treatment is available. There are so many options available today that people can successfully manage their Gaucher’s disease. With treatment, you don’t have to be hindered. It’s important to acknowledge your disease and understand your limitations, but do as much as you can to enjoy life. Don’t let it stop you from trying new things and doing whatever you feel will help you live a full life.

My advice for others is to be loud and proud; you’re one of a select few after all! Don’t be afraid to share your story, or ask for help when you need it, and don’t be embarrassed to accept support when it’s offered. When you’re extended that hand, take it; accept it willingly and with thankfulness. I think it can be therapeutic to talk about it, too. You don’t need to hold in those emotions and fears. It’s too important to get that out.

I’ve been given assistance and a helping hand in ways that I will never be able to repay. My story is the only thing that I have, so if I can encourage, inspire, give strength…do anything for others that will help them in any way, I’m truly grateful and I feel blessed.

 

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