Being diagnosed with a chronic illness is stressful. Add to that the fact that most people, including many doctors, have never heard of many rare diseases, and the process becomes completely exhausting.
I can’t tell people that I have Fabry disease and leave it at that because few have any idea what it means. It’s not their fault, of course. How could they know? Fabry disease is rare. How do you explain a lysosomal storage disorder to a person who is curious?
At the doctor’s office, appointments require a significant amount of time, and diagnoses often come only after repeated visits. Staying on track and managing my appointments can be overwhelming. Some doctors take the time to research the disease, but others still don’t understand what I deal with and what my needs are, despite frequent visits.
Finding a primary care doctor who understands my situation has been challenging. Currently, I am being treated mostly by pediatricians because they seem to have the most knowledge about my condition. But it isn’t sustainable to rely on these specialists as my main medical care providers.
Rare Disease Day on Feb. 29 gives a voice to those of us suffering from rare diseases. It celebrates a community of people who fight for better healthcare and equal rights. It creates and strengthens bonds between people who otherwise may never meet. It gives us an opportunity to educate society about the struggles that those with rare diseases and their communities face and promotes empathy and understanding.
The dedicated day also provides hope for our children with rare diseases that their future will have fewer obstacles and more compassion. It reminds us that we are in this together, that we support each other, and that we are bolstered by a broad community.
Although I live with Fabry disease every day, I am grateful to have one day in the year to remember those who suffer from rare diseases and those working to find better ways to treat and cure the diseases that afflict so many people around the world. This day is not only about my diagnosis or my child’s diagnosis; it’s about all of us.
Rare Disease Day renews our hope that one day we all might have a cure. That more treatments that are less invasive and more convenient will be available to everyone who needs them regardless of the cost. That everyone will receive earlier diagnoses. That we will be able to walk into our doctors’ offices know that we are receiving the best care possible. Hope.
On Rare Disease Day I feel heard. Since my diagnosis, I have learned so much about the rare disease community. I was surprised to discover that it’s not small. When all rare diseases are combined, we make up a fairly large percentage of the population. The rare disease community is one of which I am proud to be a part.
On Feb. 29, I will wear my struggles proudly and take comfort in the knowledge that I am not alone.
Note: Fabry Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Fabry Disease News or its parent company, BioNews Services, and are intended to spark discussion about issues pertaining to Fabry disease.
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