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Joining together to face rare diseases

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Posted: Wednesday, February 12, 2014 10:00 pm | Updated: 1:46 am, Tue May 13, 2014.

(BPT) - Living with or caring for someone with a rare disease can be challenging as symptoms of these diseases are often misunderstood, misleading or misinterpreted, and as a result, people affected by uncommon illnesses are sometimes left feeling discouraged, frustrated and isolated.

To help recognize those impacted by rare diseases and the challenges they face, on or around February 28, 2014, events will be held across the globe to drive awareness, build support, highlight medical advances and look toward the future for the rare disease community. This year, on the seventh international Rare Disease Day, the theme is “Join Together for Better Care” in recognition of the unsung heroes who support and advocate for these often overlooked patients and find common solutions to reinforce that they are not alone.

By definition, a rare disease is an illness that affects fewer than 200,000 people in the US. There are approximately 6,800 different rare diseases, which together affect up to 30 million Americans. Rare diseases encompass a wide variety of conditions including cancers and genetic diseases.

Two examples of rare disorders with varied signs and symptoms that can be misdiagnosed as more common conditions are tuberous sclerosis complex (TSC) and neuroendocrine tumors (NET). Epilepsy and developmental delays are some of the signs of TSC as well as more common medical conditions, which may mean that TSC is not diagnosed until later in life. Similarly, symptoms of NET can include intermittent abdominal pain, dry flushing and diarrhea, which are often misdiagnosed as gastrointestinal issues or even menopause.

“When my son was first diagnosed with tuberous sclerosis complex, I had to become an expert on the disease with the few resources that were available. I remember having to educate our friends and family about TSC, go into school and talk to my son’s teachers and even explain the disease to some of his doctors,” says Mandy Striegel, mother of 20-year-old Steven who was diagnosed with TSC. “My experience with TSC taught me how important it is to talk to others about rare diseases and continue to raise awareness and education of them, so people know that they have support from others and never feel like they are in this alone.”

“Given the general lack of awareness of NET and the similarity of symptoms to those of more common disorders, people with NET often live with the disease for years before receiving an accurate diagnosis, at which point the cancer has often spread, " says NET patient advocate and President of Carcinoid Cancer Awareness Network, Maryann Wahmann. “It is crucial for us to continue to raise awareness of rare diseases, such as NET, so we can ensure patients quickly find an accurate diagnosis and appropriate care.”

Novartis is an example of a company that is committed to finding solutions for people with rare diseases in a variety of ways, including clinical innovation and research, coordination with advocacy groups and development of educational resources that engage and unite communities. Online resources are especially helpful in connecting people with rare diseases with others who face similar challenges, and in engaging the outside community to learn more about these diseases and the patient journey.

“The National Organization for Rare Disorders, or NORD, understands the importance of joining together to focus on finding proper medical solutions and educating the public about the symptoms of uncommon illnesses, which can often be mistaken for more common conditions,” says Peter L. Saltonstall, NORD president and CEO. “Rare Disease Day is a time to focus attention on uncommon illnesses and the millions of people living with them.”

For more information about TSC, visit tuberous-sclerosis.com, and for more information about NET, visit carcinoid.com.

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