There are many occurrences in life that society deems rare. For instance, the chance of winning a Mega Millions jackpot is one in 302.6 million, and the odds of being killed by a shark are one in 3.75 million.

However, seeing someone you know diagnosed with a “rare disease” is much more common — as rare diseases affect an estimated one in 10 people across America.

The National Organization for Rare Disorders (NORD), a nonprofit based in Danbury, is dedicated to supporting individuals with rare diseases and the organizations that serve them.

NORD Associate Director of Advocacy and former Newtown resident Kristen Angell said, “NORD, along with its more than 300 patient organization members, is committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and patient services.”

But what makes a disease rare?

“A disease, disorder, illness, or condition is considered rare or [an] orphan disease if it affects fewer than 200,000 of the US population,” Angell explained.

So, while many people may have a disease that is considered rare, the diseases themselves vary and only affect a small population.

Of the 25 to 30 million people living with a rare disease, there are approximately 7,000 known rare diseases. More than 500 of those diseases are types of rare cancers, which include all pediatric cancers.

“Many rare diseases are genetic, which means they are directly caused by changes in a single gene or by abnormal chromosomes,” Angell said. “Some genetic changes that cause rare diseases can be passed from one generation to the next, but sometimes these genetic changes occur randomly.”

She added, “Other rare diseases are caused by multiple factors, including genes that can increase the chance that someone will develop the condition, but other environmental factors are also necessary.”

NORD reports that signs for many rare diseases can be observed as early as at birth or in childhood, and that many rare diseases result in premature deaths of infants and young children or are fatal in early childhood.

Lack Of Funding

Despite rare diseases causing many untimely deaths, there is still insufficient funding for these marginalized groups.

Thanks to organizations that represent rare disease, specific types, including cystic fibrosis, ALS (amyotrophic lateral sclerosis, often called Lou Gehrig’s disease), and leukemia, are more well known to the public and therefore gain more funding.

“Unfortunately, there are so many disease states that don’t have an organization to help bring awareness to them and they go unknown to the general public, or the patient populations are so small it’s difficult to get national attention for them,” Angell said.

She added that having small patient populations also comes with the funding dilemma that some donors would rather see their funding go toward more common illnesses, because they affect a larger population in the United States.

As a result, NORD seeks to represent the entire rare disease community. The organization supports efforts to bring awareness and education about rare diseases to the public, as well as to the medical community, researchers, and government officials.

The work being done is critical, because funding for rare diseases can be the difference between life and death.

“There are numerous funding opportunities in the rare disease space, such as research, education, and drug development... The initial research on a rare disease can later lead to a treatment or cure, which is especially important to the rare disease community,” Angell said.

Additionally, education is crucial for the future of those with rare diseases. Right now, people with a rare disease face an average of five to seven years for an accurate diagnosis.

“The US needs more physicians and researchers educated in rare diseases,” Angell explained. “An increase in medical and scientific professionals with rare disease experience will lead to faster diagnosis, more efficient and effective care, faster discovery of cures, and overall benefits to the health system, as rare disease research will be more easily be translated to more common diseases.”

She added, “Many rare disease nonprofit organizations fund their own research grants in addition to contributing to the development of therapies for their patient community and assisting their patients in getting access to those therapies.”

Life With A Rare Disease

A common problem in the rare disease community that people are facing is access to affordable and effective treatments.

NORD reports that a whopping 90 percent of rare diseases currently do not have an FDA-approved treatment.

As a result, many patients must treat their disease’s symptoms, not the disease itself.

“We find many patients have to fight their insurance companies, because the drug is not designated for their specific disease but can have positive results for the patient,” Angell said. “They also face high out-of-pocket costs when using off-label therapies due to lack of coverage from their insurance companies (private and public).”

The financial burden intensifies when patients have diseases that cause them to be unable to work, resulting in them having to leave their jobs and face social isolation. Many family members and loved ones of those with rare diseases must leave their jobs to become full-time caregivers.

“Patients and their caregivers face many challenges in the rare disease space,” Angell said. “There are so many access issues for them, such as few medical experts on their disease and access to those experts that may not be within their own communities or state.”

She added, “Medical treatments, hospital stays, and medical visits can be very expensive even if they have insurance, and there are so many patients unable to pay for those visits and/or treatments due to lack of income or high insurance co-payments.”

The high cost of care and treatment is not just a one-time expense, either; those with a rare disease will have lifelong medical needs.

Recent Developments

Fortunately, there are triumphs being made for the rare disease community.

In recent years there have been significant developments in gene therapy, and Angell says it appears it is possible for many patients to see a gene therapy treatment developed within their lifetime. To educate people about the basics of gene therapy, NORD released a brief video: youtube.com/watch?v=5ChXI6cSQs0.

Also, last month, NORD announced the launch of their Undiagnosed Rare Registry, a natural history study for undiagnosed rare diseases: rarediseases.org/nord-launches-natural-history-study-for-undiagnosed-rare-diseases.

Vanessa Boulanger, NORD’s director of research programs, explained, “Natural history studies that document the progression and presentation of disease over time are key to better understanding the full picture of rare conditions and designing refined and meaningful scientific studies and clinical trials.”

She added, “The role of patients as research partners and experts in the design and development of their own treatments is expanding, and at NORD we support these efforts in a variety of ways — through leading a rare disease natural history program where community organizations and other stakeholders can establish studies; by partnering with the FDA to facilitate patient listening sessions; and by hosting patient-focused drug development meetings to ensure that stakeholders hear directly from patients.”

To learn more about rare diseases, visit NORD’s website at rarediseases.org. To get involved with NORD and the rare disease community, go to NORD Connecticut Rare Action Network at rarect.org.