As November ushers in a season of gratitude, it also brings with it National Caregivers Month – a time to recognize and celebrate the unsung heroes who dedicate their lives to caring for others, particularly those in the rare disease community. These individuals, often family members or close friends, play an invaluable role in supporting and enhancing the lives of those living with rare conditions.
Caregiving is a profound act of love and commitment, but it can also be an incredibly challenging journey. For those caring for individuals with rare diseases, the path is often marked by unique obstacles. From navigating complex medical systems to providing round-the-clock care, caregivers shoulder immense responsibilities that often go unnoticed by the wider world.
The impact of caregivers on the rare disease community cannot be overstated. They are not just providers of physical care; they are advocates, researchers and emotional pillars. In many cases, caregivers become experts in their loved one’s condition, often knowing more about the rare disease than many medical professionals they encounter.
Read below to hear the firsthand stories from caregivers who care for a loved one with a rare disease.
On this podcast episode of My VIBE, Londen shares her story as the mother and caregiver of 17-year-old Autumn, who has juvenile Huntington’s disease (HD). Listen as Londen describes Autumn’s diagnostic journey and more: https://www.ptcbio.com/2024/11/14/autumns-huntingtons-disease-diagnostic-journey/
Learn more about Claudia, a mother, caregiver, social media content creator and Duchenne muscular dystrophy advocate: https://www.ptcbio.com/2023/02/21/claudia-espinal-a-mompreneur-with-a-duchennecan-perspective/
Ann’s experience as a caregiver was shaped by her father’s journey with ALS. Here, Ann shares what it was like to be a caregiver:
“Caring for a dying parent, especially my dad, was an intensely emotional experience, one that felt like a mixture of love, pain, and deep vulnerability. It was a time of both profound connection and heartache, as I witnessed someone who I looked up to and loved so much, decline in health.
In the moments of caregiving, I felt a strong sense of responsibility and duty, wanting to ease his suffering and give him comfort, while I felt such a deep sorrow and fear about the inevitable loss. I always tried to focus on the love and gratitude I had for him and to remember all the amazing things we did together. Caring for my dad was a consistent reminder the importance of being grateful for everyday and that tomorrow is not promised.”
Kelly Heger became a nurse after her daughter, Jillian, was diagnosed with AADC deficiency. Read more about her experience as a caregiver and her work as a pioneering advocate: https://www.ptcbio.com/2023/05/10/25-remarkable-stories-a-pioneering-advocate/
Laci shares what it was like to be a caregiver at a young age for someone with Huntington’s disease. Listen as she shares her story on the My VIBE podcast: https://www.ptcbio.com/2024/11/14/caregiving-at-a-young-age/