VR真人彩票

鈥淲orking from home, doing remote learning, having limited interactions with the outside world鈥攖he COVID pandemic has almost been an equalizer for parents with rare disease children,鈥� said Danny Miller, a rare disease parent in Northern California. 鈥淣ow everyone has experienced the challenges we鈥檝e always faced.鈥�

While the pandemic has proved an ongoing hardship for many, it has opened a lot of eyes to the hard facts of others鈥� health challenges and communities on the margin. And some of the daily emotions that rare disease families report experiencing鈥攊solation, worry, fear, uncertainty鈥攁re suddenly, more commonplace for most families.

In the spirit of empathy and shared experiences comes Rare Disease Day (February 28), which was first celebrated 14 years ago. Organized by EURORDIS, The Voice of Rare Disease Patients in Europe, Rare Disease Day aims to raise awareness and promote equitable access to diagnosis, treatment, social support, and opportunities for people living with a rare disease.

What are rare diseases?

Across the globe, there are more than 300 million people living with a rare disease鈥�50 percent of whom are children. Research has found there are approximately 7,000 distinct rare diseases, of which 80 percent have genetic origins. The European Union considers a disease rare when it affects less than one in 2,000 people. Of those affected, many remain uncertain about their condition and without a confirmed diagnosis, leaving families on a diagnostic odyssey for an average of seven years.

鈥淕ene testing and whole-genome sequencing are instrumental to the detection of rare diseases,鈥� says Nicole Millis, CEO of Rare Voices Australia. 鈥淓nsuring widespread access to specialized diagnostic responses such as genomic testing is important to ensure timely and accurate diagnosis.鈥�

鈥淗aving a diagnosis offered our family the ability to connect with others who share similar experiences,鈥� says Maree Dalton, an Australian mother of a child living with a rare disease. 鈥淭hese communities provide an invaluable pillar of support during periods of struggle or uncertainty.鈥�

Shining a light on the global rare disease community

VR真人彩票 is dedicated to championing the needs of rare disease patients and communities. Through patient advocacy efforts, education, and evidence based clinical and economic utility development for increased payer coverage, VR真人彩票 is working to increase access to whole genome sequencing. Each initiative or project is strengthened by our commitment to developing and delivering on the promise of precision medicine.

During the month of February VR真人彩票 honors Rare Disease Day through various activities. This year, we are promoting four global rare disease organizations:

• - Canadian Organization for Rare Disorders
• - Patient Alliance for Rare and Genetic Diseases
• - The Tanzanian Society of Human Genetics
• - Asia Pacific Alliance of Rare Disease

Hope prevails

鈥淏eing overly cautious, scanning the news for updates on findings, and the fear of 鈥榃hat if I get sick and can鈥檛 care for my child?鈥� or 鈥榃hat if my child gets sick, will this affect her differently?鈥� 鈥攖he first few months of COVID felt a lot like the early days of our diagnostic odyssey,鈥�  notes Gay Grossman, whose daughter was diagnosed with ADCY5-related dyskinesia.

Mixed in with the uncertainty of COVID, however, positive actions have emerged for the rare disease community over the past year. Mask-wearing, handwashing, and an increased focus on sanitation have made the world a little safer for those with rare diseases. Additionally, the adoption and normalization of telehealth has been something the community has long fought for.

鈥淒uring these uncertain times,鈥� said Shannah, mother of Emmalyn, who has a rare disease known as GA-1, 鈥渢he one thing that remains is hope.鈥�