When analyzing the responses across all of our communities, the biggest challenges were the same: raising awareness, controlling symptoms, feelings of isolation and financial challenges.
The biggest challenge for people living with a rare disease was raising awareness of the disease. Families are often the expert in a condition because they must be: most doctors and people they meet do not know anything about the condition. Raising awareness of the disease and its impact can be exhausting, but is often the only way to progress research, funding and better care in a condition.
“Having to convince not only people around you, but doctors, that you aren’t just lying about this disease that you went through such a long process to get a diagnosis for.”
Many people who took part in the survey described the symptoms of their condition as having a huge impact on both their lives. Some people felt their symptoms were not controlled well enough and that there was a real need for new treatments that can fully control the most impactful symptoms.
“There is no real way to describe this disease. As of now there are more bad days than good. The worst part is feeling like I have no control over my body, and when the disease is at its worst, feeling like I am trapped inside my body and can’t escape.”
Feelings of isolation
Feeling alone and isolated was a common theme amongst the Sanfilippo community, and the wider rare disease community. Others do not know what it is like to have a child who has the condition, or how caring for someone with a condition like Sanfilippo syndrome can impact you.
“The feeling that you’re totally alone dealing with a rare disease that no one seems to know anything about is tough, having specialists scratching their heads, not knowing anything about the disease you have, it’s quite scary.”
“It is a lonely disease. You often look better than you feel.”
Living with a rare disease can be challenging financially on a family. Specialized care, services and treatments can be expensive and not always paid for by governments or insurers. Families often must adapt their homes or hire professional help to try to keep as normal a life as possible for their family, which many cannot afford. Many members of our community must fill out volumes of paperwork and wait for months for their insurer to pay before they can access a life-saving treatment.
“The financial implications of having a rare autoimmune disease that is poorly understood by insurance companies and doctors alike.”
There are many organizations across the world working to support communities in raising awareness, connecting families with each other to tackle feelings of isolation and providing information on treatments in development. Contact firstname.lastname@example.org for more information.