We do not have the same motivation as our providers, physicians or specialists.
We are motivated by our pain and suffering every day and watching our loved ones suffer over the decades from the same disease our grandparents suffered against. We reach out for help from what we perceive will be trusted providers, but we find that… The medical system is broken.
It’s not broken because there is no treatment for our disease, or that there isn’t a pathology to our symptoms. The medical system is broken because it dismisses us. The medical system, as a whole, has repeatedly said to us that our pain and suffering is not worth the effort. The effort to pave a path for evaluation, diagnosis and treatment for all patients.
After two decades, I suffered not understanding why I was sick since early childhood, and being dismissed year after year. I discovered a letter from Mayo Clinic in my medical records stating that in evaluation for my small fiber neuropathy, my urine has shown higher than normal levels of ceramide trihexoside or GB3. The evaluation had been lost to us not returning to Mayo Clinic.
In returning to Mayo Clinic, I received the requested evaluation in the letter and my alpha-galactosidase was reduced, indicating I had Fabry disease. I now have to fight for treatment, as no mutation was returned from my genetic tests.
What keeps me up at night, along with the burning pain from Fabry, is what about the next generation? I see it every day online, the same tragedy over and over again as young children and their families fight for relief. I either witnessed my family members suffering, or listening to stories from previous generations, but I also witnessed their resilience.
I’ve stopped asking why my family and I suffer, but instead ask… why do we, generation after generation, have to fight for treatment?