Living with familial amyloidosis (hATTR) has been humbling, to say the least. I had to learn how to adapt to the changes and challenges my body experiences on a daily basis.
A valuable lesson I have learned along this rare disease road is the need for and effectiveness of connecting with others who share my journey. And that certainly includes the growing number of organizations who work to raise awareness of the growing number of rare diseases that deserve more research and treatment options and help to reconcile healthcare insurance issues, which often defer treatment for weeks and months.
And that’s why, each year, February is dedicated to fundraising and awareness of rare diseases, culminating in Rare Disease Day on February 28. For this rare disease patient, it is reassuring to discover online groups and organizations that connect me with others who live with hATTR.
Since joining the hATTR online support group, I have met many people who have similar experiences. One of the common questions discussed among members is the struggle of waiting for insurance approval for treatments.
Read about therapies for hATTR
Another question frequently asked is “How do you deal with chronic fatigue?” I struggle to make it through the week working a full-time job as well as tending to my 3 children. By the time the weekend rolls around, I do not have the energy to get anything done around the house.
These are just some things that someone not only with my condition may have to deal with, but anyone with a rare disease.
Raising awareness for rare diseases is extremely important. According to raredisease.org, there are 7000 rare diseases that impact over 300 million people worldwide.
The objective of Rare Disease Day, organized by the National Organization for Rare Disorders (NORD), is simple in a sense, raising awareness, but difficult in another sense—reaching the audience they must connect with: patients and their health care providers, families, and support networks.
It is essential to shine a light not only on the diseases themselves but how they impact the lives of patients and their families. Educating doctors on rare diseases, building family support to help patients, and helping to shorten the time before patients are diagnosed and put on the road to treatment and a good quality of life.
