Rare Disease: A Journey on the Road Less Traveled

Did you know every year the last day of February is Rare Disease Day? This day is chosen because it is the rarest day of the year! The mission of this day is to raise awareness and generate change for the 300 million people worldwide living with a rare disease, their families, and their care takers. Organizations and individuals worldwide take up this cause in the hopes of making progress towards finding better treatments and answers for those traveling the long and tough road of rare disease. I also choose to take up this cause for myself, my family, and a small non-profit, Garage 10, created to offer support and financial assistance to individuals with a rare disease.

Why do I take up this cause?

In 2019 my family began the lonely and frightening journey of rare disease. Imagine receiving a diagnosis that most physicians have not heard of. Actually, imagine receiving a slew of diagnoses because your diagnosis, being so rare, leaves the doctors to disagree on what is happening in your body. Leiomyosarcoma, inflammatory myofibroblastic tumor, sarcoidosis, and multiple myxoma are the slew of diagnoses received by my husband. The first one, leiomyosarcoma, we were told was Stage IV and terminal. By God’s saving grace this diagnosis was not correct. However, we can never take back those months we sat with that news. We spent many long days getting through, minute by minute and hour by hour. We kept trudging forward. Journeying on the road less traveled, we paved our own path. That’s just the thing with rare diseases…there are no maps, no standards for care, perhaps no two physicians who agree on a treatment plan. Having a rare disease means becoming your own expert on your diagnosis. After receiving the news that I may be left a widow with three young daughters to raise, I spent every possible moment looking for answers. My husband and I chose to get second, third, and fourth opinions. We made calls to every physician we knew, sent medical records off for review by major cancer institutes, and refused to accept that we were at the end. In the end, those efforts paid off for us as we eventually were given a new and treatable diagnosis!

Rare Disease is not that rare

Surprisingly, 1 out of every 10 people in the U.S. has a rare disease. Thirty percent of those individuals will not live to see their fifth birthday. Due to the lack of scientific research and trials done on rare diseases, individuals often are misdiagnosed or face an extended period of time before receiving any diagnosis at all. Once diagnosed symptoms may become managed; however, there is often no cure for a rare disease. As you can imagine this leads to unequivocal suffering, pain, and isolation as compared to someone facing a disease treated frequently and backed by tried and true medical interventions.

An additional challenge faced by those with a rare disease is the financial burden. Quite frequently travel is required to receive care by a specialist.  All travel expenses incurred are not covered by traditional health insurance. Families must pay out of pocket for gas, hotels, flights, and food while traveling. Secondly, many treatments for rare disease are not FDA approved or are considered experimental. Because of this insurance claims may be denied leaving large medical bills to be paid by families. 

 

Want to get involved?                 

As you can see, rare disease presents a unique set of circumstances to individuals, families, and caregivers. I saw this first hand when my family began our journey through rare disease. For this reason, my friend Kasey Gary and I started Garage 10. Our mission at Garage 10 is to increase awareness in our community on rare diseases, and we also offer financial gifts to individuals who are traveling to receive care. This month we are hosting our annual fundraiser and awareness campaign which coincides with Rare Disease Day.

If you would like to help, here are a few things you can do:

  • Spread the word about the challenges faced by rare disease, TALK! TALK! TALK!
  • Know someone with a rare disease who travels to receive care? You can nominate them to receive a financial gift from Garage 10 by clicking here
  • Donate to our campaign here so we can continue to help those in need. Garage 10 is a 501(c)3 organization making all donations tax-deductible
  • Follow Garage 10 here on Instagram to see the great things we are doing
  • Wear a Rare Disease Day wristband throughout the month of February. Contact Garage 10 at [email protected] to receive wristbands
  • Add a Rare Disease Day banner to your social media profile by clicking here
  • Celebrate Rare Disease Day on February 28th

 

Ashley is originally from Thibodaux, La. She moved to Baton Rouge in 2005 to attend graduate school at LSU where she received a master’s degree in social work. She has been married to her wonderful husband, Taylor, for 15 years and they have 3 daughters Raegan (14), Julia (8) and Sadie (2 going on 20). Ashley worked as a social worker in the medical field for 10 years before taking a break to be a stay at home mom. Life took a very unexpected turn when her husband was diagnosed with a rare cancer in 2019 which fueled her passion for rare disease awareness. She is co-founder of the non-profit Garage 10 which provides financial assistance to individuals with rare diseases. Ashley loves family, faith, friends, date nights, coffee creamer, exercising and quiet moments amongst the business of life.

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