Patients Rising, Cystinosis Awareness

Written by K.M.

I have never given much thought to how I would die. Perhaps because my health and longevity has been laid out for me since infancy. Maybe I am so grateful for the present days and moments, or maybe I am truly naive. Either way, when you live with a rare disease well into adulthood, the present and the vision of the future become more frequent in your thoughts.

At a little over one year old I was diagnosed with cystinosis, a rare genetic metabolic disorder that causes cystine to accumulate in the body and cause organ damage. At 8 years old I received a kidney transplant that has without a doubt improved my overall quality of life. In facing obstacles most don’t in their life in regard to waiting for FDA approval and fighting with health insurance for prior authorizations for life saving drugs, it has installed a deep gratitude for the present moment and being grateful for what you do have.

Patients and caregivers of the rare disease community are all too familiar with these obstacles. The list can go on and on for the challenges we face when managing our care. I often think of my husband and how this affects him. I think of what our future will look like and how much care I may need in years to come. Are we going to have to file appeals every year with health insurance for prior authorizations for my medicine? Am going to be able to work as long as I like and contribute to our household? More importantly, am I going to be able to work as long as I like for my own personal sanity? As I age, these are some of the questions I have passed through my mind. My husband is unequivocally the best friend, caregiver, and support system I have ever known. I am truly blessed to live in the present & have a future to grow old with a partner so magnanimous.

The future is unknown for everyone, but I think it is safe to say that as cystinosis adult patients age we do wonder what life looks like ten years or twenty years into the future. Most of us have probably wondered how this will affect our spouse, children, work/life balance and more. In recent years I have learned how truly important nutrition & exercise is for maintaining good health. Obviously, nutrition and exercise is great for everyone, but for those living with cystinosis I do believe there has been a missed opportunity in educating the importance of incorporating it in our healthcare routine. Our metabolic disease includes muscle wasting, and as we age, all adults experience muscle loss later in life. Therefore, strength training and mild to moderate cardio is critical for living well with cystinosis. This should be incorporated into our health prognosis along with our cysteamine treatment. In addition to this, there are many studies that have shown exercise can improve mental health and improve cognitive health as we age. This directly correlates with the prognosis for our rare disease for quality of life as we mature in age. I am optimistic that in the future this information will be shared with younger patients, and how nutrition & exercise is truly an investment in their future just like managing their cystine levels.

We all have obstacles in life, those living with a rare disease have some more unique ones. With that being said, is an exciting time to be an advocate. We can share our experiences to create an inclusive support system for all cystinosis patients, caregivers and newly diagnosed families.

I still don’t give much thought as to how I will die; maybe ignorance is bliss. With that being said I will always be grateful to have had parents that championed my health and now a spouse that does the same. I know I’m in charge of my destiny and I know how to be my own advocate, not only for my health, but also to be my best self for those closest to me.

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