“With understanding comes acceptance, and with acceptance we can get rid of the idea that there is something wrong with us”.
Imagine the reality of being faced with a set of symptoms with an unknown cause and an unknown cure.
Imagine that this disease induces feelings of perpetual isolation, discrimination, and alienation. It’s not a hard picture to conjure up in today’s uncertain climate of Covid-19. By now, we’re all tired of that ever-present feeling of isolation and the desperate hunt for a cure, but for those who live with Rare-Diseases, this is nothing new.
What is a Rare Disease?
Rare Diseases are identified by a broad range of disorders and symptoms that vary not only from disease to disease but also from patient to patient suffering from the same disease. What starts as relatively mild or common symptoms can mask underlying rare diseases, sending the patient in circles with a string of misdiagnoses and delays in treatment. These conditions often directly affect the patient’s autonomy and quality of life due to the chronic, progressive, degenerative and fatal prospects of the disease. The harsh reality of no existing cures and limited funding and research adds to the emotional hardship suffered by the patient and their families.
Merle (50s) lives at home with her husband, niece, and three children. She discovered her rare disease in 1996 when her second son was born with a bleeding hole along the top of his skull. Knowing she was born under similar conditions, the family then underwent genetic testing whereby Merle and her son were diagnosed with Adams-Oliver Syndrome (AOS).
Adams-Oliver is an extremely rare genetic disorder, characterised by defects of the scalp, limbs and heart. The severity of symptoms greatly varies from case to case, though can be fatal in some cases when congenital heart symptoms are involved.
After many self-conscious years of hiding her scalp, it was a relief for Merle to reach a diagnosis and better understand herself and her family. “Once we found out, life made more sense”. However, her son faced the same disease, but different hardships. He had to be vigilant in protecting his scalp from the sun, and couldn’t participate in major contact sports and active recreational activities due to being born with pulmonary stenosis (narrowing of the heart valve). In addition, her son endured social-discrimination at school where he was teased about the appearance of his skull.
Merle is passionate about advocating the importance of raising awareness so that society can foster a greater understanding of people with rare diseases. “With understanding comes acceptance”, says Merle, “and with acceptance, we can get rid of the idea that there is something wrong with us”.
“It makes us more empathetic to people who aren’t perfect, because nobody is.”
There are over 300 million people around the world living with one or more of the 6,000 identified rare diseases. Additionally, 1 in 20 people will live with a rare disease at some point in their life. 72% of these rare diseases are genetic, whilst others are the product of infections (bacterial or viral), allergies, and environmental causes. Of the genetically inherited rare diseases, 70% emerge in childhood.
Why Rare Disease Day?
Rare Disease Day takes place on the last day of February every year, with an aim to raise awareness amongst the general public and key decision-makers in the medical and political community. Awareness is crucial in finding a cure and helping patients feel supported, as the lack of general knowledge and quality information on the conditions often results in delayed diagnoses, inhibited access to treatment and care, and heavy social and financial burdens.
The campaign not only targets the general public, but also policy-makers, public authorities, health professionals and professional researchers in order to encourage them to address the needs of the rare disease community.
Nobody deserves to feel isolated, alone, or unheard, especially in this time of crisis.
At Nurse Next Door, we stand in solidarity with the rare-disease community and are passionate about making a difference. In order to make lives better, we encourage all of you to jump in the conversation this Rare Disease Day so that we can help the community feel supported in the fight for greater awareness and funding for a cure.