Embracing Life with Gaucher Disease Carrie’s Journey of Perseverance and Support

Carrie’s Journey: Embracing Life with Gaucher Disease

Carrie Choate is a 42-year-old pediatric physical therapist dedicated to helping children with special needs and rare diseases. She is an avid runner, fitness enthusiast, and mother to three children. But despite a fulfilling personal and professional life, her journey has been shaped by the challenges of living with Gaucher Disease Type 1, a diagnosis she received just six months after her first child was born. We were recently able to connect with Carrie to learn more about her experience with Gaucher and gain some insights that may help others who are facing similar challenges.

 

Tell us about when you were first diagnosed with Gaucher Disease.

I was diagnosed at 28, 6 months after my first child was born. It took an extremely frustrating, and all-consuming six months to get a diagnosis, and without my own self-advocacy and perseverance, I might never have been diagnosed. Even today, I continue to struggle with chronic fatigue, severe joint pain, body aches, and the anxiety and stress associated with having a chronic condition. However, I am not one to give up and am constantly seeking new treatments and resources to help manage my symptoms, find the best care, and maintain my health, all while balancing a full-time job and raising a family.

 

What is Gaucher Disease?

Gaucher is a rare genetic disorder caused by a deficiency of an enzyme called glucocerebrosidase, which leads to the accumulation of fatty substances in the spleen, liver, and bone marrow. This buildup causes fatigue, severe bone pain, and enlargement of the spleen and liver. Although there is no cure for Gaucher, treatments are available to help manage symptoms and improve quality of life.

 

What type of support has been most helpful in managing your chronic condition?

I’ve been incredibly fortunate to have access to some of the best care, including my Gaucher specialist who is a geneticist. She helps me navigate the stressors that are associated with having a genetic disease, providing guidance and expert management of my treatment. Although she cannot cure me, she helps minimize my fear of the unknown, and, most importantly, encourages me to live a long, fulfilling, and happy life. Without my Gaucher specialist on my care team, I’m not sure I could manage my condition or function as well as I do now. She has been my rock.

In addition to my specialist, my genetic counselor and case manager have also been invaluable assets. I can always email or call them with questions or concerns. Last but not least, I could not do this without my flexible, caring, and nurturing nurse. I spend a lot of time with her every other week, and she makes my treatments less daunting and draining.

Beyond my clinical team, I have an incredible system of family and friends. They provide unconditional support and allow me to vent when I am having an off day or need extra help due to fatigue. Over the last 14 years of my journey, I have been connected with other people who also have Gaucher. It has been wonderful to talk through things with those who truly understand what I am going through. I can’t imagine managing both the emotional and financial stressors of this disease without such a strong support network.

 

How did you learn about Accessia Health?

I did an interview in Boston in 2019 with another member of the rare disease community and they let me know about this incredible organization that helps alleviate the financial stress for rare disease patients.

Without Accessia Health, I wouldn’t have been able to afford non-traditional healthcare expenses that my insurance didn’t cover but were necessary to manage my long-term symptoms. It’s been a huge stress relief to receive the assistance and support from Accessia Health.

 

Are there specific coping strategies you would recommend to others also living with a chronic condition?

Maintaining a consistent healthy lifestyle, including diet and exercise, is vital. I have always prioritized my health, even prior to my diagnosis. While it’s important to stay active, you should also rest as much as you can, lean on others for support, and stay positive. Don’t give up on things that will help you manage stress and long-term symptoms. You must also be your own advocate and never lose hope. Most importantly: know that you are not alone. It took me many years to accept my diagnosis and seek help. No person should have to deal with any disease or chronic condition alone – there is always someone out there who is willing to help.

 

How has your perspective on life and health changed since being diagnosed?

You have one life to live, so live it to the fullest within the parameters of where you are in your disease process. Keep advocating for yourself and stay connected in the community.

 

Carrie’s story of determination and resilience is a reminder that no one should have to face a rare disease or chronic condition alone. With the right support, people can find the strength to overcome even the toughest challenge. If you or someone you know is living with Gaucher, Accessia Health offers comprehensive support, including case management and financial assistance for your healthcare expenses. Click here to learn more and apply.

The following resources are also available for caregivers and patients. For a complete list, click here.

(pictured: Carrie with her husband David)