Patients Getting Organized, Fighting Back Against Rare Diseases

By Jodee Redmond from In The Cloud Copy

At one time, hearing a cystic fibrosis (CF) diagnosis was tantamount to a death sentence for a young person. The median survival age for this genetic disease was 27 years. CF is progressive and causes the patient to experience frequent infections which are quite difficult to treat. Over time, the affected person finds breathing more difficult. There was no effective treatment that could tackle the root of the problem.

The prognosis for CF patients has changed over time. The Cystic Fibrosis Foundation arranged for a clinical trial network. The organization also funded a successful strategy of drug screening and therapies to find effective treatments. In 2012, the Food and Drug Administration (FDA) approved a new treatment for the underlying cause of the disease that was successful for a small group of CF patients. Today, treatments are available to help the majority (90%) of patients.

Rare Diseases Defined

To meet the definition of a rare disease in the US, a condition must affect fewer than 200,000 people. Other countries set their own definitions for rare diseases. The European Union has determined that a rare disease is one that affects fewer than 1 in 2,000 people.

According to experts, 25-30 million Americans currently live with a rare disease. Worldwide, this figure grows to 400 million people. Only a few types of rare diseases (cancers, birth defects, and some infectious diseases) are tracked when a patient is diagnosed.

Patients Can Play Role in Advancing Medical Research

When rare disease patients get organized, they have a role to play in advancing the course of medical research. There is a great need for effective treatments, since the majority of rare diseases don’t have any.

There are many reasons why 95% of these diseases don’t have an approved treatment:

  • Difficulty diagnosing patients for research studies
  • Lack of awareness about the rare disease
  • Lack of funding to conduct research toward finding an effective treatment
  • Difficulty collecting patient data

There are hundreds of millions of rare disease patients living with little hope that they will ever have access to an effective treatment. Rare disease doesn’t mean that a condition is not serious, is pain-free, or is not life-threatening. For most patients, science is not moving toward finding a cure quickly enough. Thirty percent of children living with a rare disease die before they’re able to celebrate their fifth birthday.

Rare disease patients don’t necessarily have to accept this situation as being the best that medical science can offer them. Instead, they can get organized and start demanding that more work be done toward treating even the least common rare diseases.

Multicentric Castleman Disease Patients Work with Doctors to Advance Research

This scenario is already playing out. David Fajgenbaum, a medical professor, lives with Multicentric Castleman disease. This rare disease affects a patient’s lymph nodes and similar tissues. The signs of the disease can be nonspecific and may range from mild to life-threatening depending on the patient:

  • Enlarged spleen or liver
  • Enlarged lymph nodes
  • Fatigue
  • Fever
  • Night sweats
  • Numbness, tingling, and pain in the hands and feet (peripheral neuropathy)
  • Shortness of breath
  • Skin rashes
  • Weakness

When Fajgenbaum was diagnosed in 2010, little was known about the disease. He decided that the best way to save his own life would be to get the Castleman community to work together.

The Castleman Disease Collaborative Network includes researchers, doctors, and patients. It has clearly defined research objectives, provided funds for research projects, and shared data. Fajgenbaum has taken these insights and applied them to his own treatment. His disease is currently in remission.

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