World Sickle Cell Day 2015: How Rare Disease Awareness Leads To Quality Care, Treatment

AS REPORTED ON MEDICAL DAILY

Rare diseases, like sickle-cell disease (SCD), often don’t get the attention they deserve. The non-profit organization Global Genes found an estimated 95 percent of rare diseases don’t have a single FDA-approved drug treatment — there are only 400 treatments approved to treat some 7,000 rare diseases believed to be affecting people today. It’s clearly not enough.

But with more awareness and education, Global Genes reported, doctors, patients, and their families have improved access to treatments and medical representation. So while Feb. 28 (depending on if it’s a leap year) recognizes rare diseases worldwide, June 19 specifically focuses on SCD. The United Nations created the awareness campaign back in 2006.

“[SCD] is an extremely debilitating medical condition. It is characterized by chronic pain with frequent bouts of acute severe pain that requires large amounts of narcotics that often provide incomplete relief,” said Dr. Yutaka Niihara, chief scientific officer of Emmaus Medical and professor of medicine at the David Geffen School of Medicine at UCLA, in an article last year. “It is also marked by social stigma that makes others, including medical professionals, view sickle cell patients as ‘drug seekers’ due to their need for large amounts of pain medication.”

Essentially patients who inherit SCD (it’s a hereditary disease) have poorly oxygenated red blood cells in the shape of a C-shaped farm tool called a “sickle.” Patients’ cells are hard, sticky, and sometimes travel backwards, according to the Centers for Disease Control and Prevention (CDC). Cells get stuck this way and clog blood flow, leading to “pain and other serious problems such as infection, acute chest syndrome, and stroke.”

“Any day without pain is a good day,” Shakir, an activist for SCD awareness and research, told Global Genes. Niihara added patients “have an annual average of three episodes of severe pain that requires hospitalization and narcotics.” But unfortunately, he said many people, and that includes medical providers, don’t understand their pain and undertreat them, if at all.

“[SCD] patients’ pain is real and is triggered by damage to major parts of their bodies, including the heart, lungs, kidneys, and brain,” Niihara said. “Also, they are very susceptible to infection, which can be life threatening. These organ damage-induced bouts of pain and infectious episodes are two causes of mortality at a very young age.”

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