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Raising awareness about rare diseases

Today is Rare Disease Day, an international event intended to raise awareness of diseases that affect fewer than 1 in 2,000 people. Treatment options for rare diseases are often poor; with few patients affected, funding research into these diseases tends to be a low priority.

EURODIS, a European NGO that advocates for patients with rare diseases and organized the day, provides a fact sheet (.pdf) about these diseases. As a writer who focuses on children's health, here are the facts that most caught my eye:

  • Rare diseases are often chronic, progressive,degenerative, and often life-threatening
  • Rare diseases are disabling: the quality of life of patients is often compromised by the lack or loss of autonomy
  • 75% of rare diseases affect children
  • 30% of rare disease patients die before the age of 5

Although these numbers are daunting, the good news is that research is progressing on several rare diseases that affect children. To celebrate Rare Disease Day, here's a sampling of some of this research at Stanford and Lucile Packard Children's Hospital:

  • A team of neurologists, neurosurgeons and neuroscientists is testing an experimental therapy for a deadly pediatric brain tumor, Diffuse Intrinsic Pontine Glioma, that currently kills 99 percent of patients within five years. They're also conducting research into how this cancer works.
  • Dermatologist Al Lane, MD, and colleagues are investigating whether sildenafil, better known as Viagra, treats severe malformations of the lymphatic system called lymphangiomas.
  • Medical geneticist Greg Enns, MD, and liver transplant surgeon Carlos Esquivel, MD, PhD, are partnering to treat a rare metabolic disease, methylmalonic acidemia, with early liver transplants.
  • Gastroenterologist Kenneth Cox, MD, is treating a debilitating liver disease, primary sclerosing cholangitis, with the antibiotic vancomycin.
  • Cardiothoracic surgeon Frank Hanley, MD, repairs extremely complex congenital heart defects that other surgeons won't touch.

If you want to advocate for rare diseases, the Rare Disease Day website has lots of ideas for ways to get involved.

Previously: Big advance against a vicious pediatric brain tumor, Pediatric surgeon fixes "heart that can't be fixed" and Viagra may treat rare childhood deformity;

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