Sadness, hope, uncertainty: Baby Noah waits for a liver
Around 30 million Americans, including nearly four million Californians, are affected by rare diseases. According to the National Organization for Rare Disorders, there are more than 7,000 of these conditions. Around half of rare disease patients are children.
If you know a family facing a rare disease, you’ve seen what they go through. Fighting one of these conditions is like having a second full-time job with the sole purpose of keeping a loved one alive. It often starts with a diagnostic odyssey, during which no one can figure out why their child is sick. This can go on for months or years.
Even if the condition is diagnosed, there’s no guarantee of a treatment. Parents and patients scour academic journals looking for research that might help. If they’re lucky, there’s a nonprofit patient advocacy organization focused on curing their specific condition.
Sometimes there’s a treatment approved for another disease that can be used “off label.” This often leads to coverage fights with health insurance companies.
That is the merry-go-round Jane Pitluck of Los Angeles is on. She works for a California-based biopharmaceutical company, Retrophin, as part of a team developing rare disease therapies. She understands the challenges faced by people with rare diseases because she has one of them. Jane has a condition called postural orthostatic tachycardia syndrome (POTS), where not enough blood cycles back to her heart. POTS causes fatigue, lightheadedness and dangerously low blood pressure. To keep her blood pressure up, she has to salt everything, even cereal.
Jane takes a drug that’s approved for a different autonomic nervous system disorder, but getting it has been a struggle. Whenever she changes health insurance, she must struggle to get her medicine back. In one instance, she told her health insurance company that she didn’t care how long she had to be on the phone with them, they were going to approve her medicine, which they did. But tot everyone has Jane’s determination, and rare disease patients shouldn’t struggle to get the treatments they need.
Jane lives a life of uncertainty. Her drug has entered clinical trials for POTS, but it could be years before FDA approval. Still, Jane is lucky – at least she has a treatment. Unfortunately, the vast majority of rare disease patients have nothing.
Jane’s story illustrates two key features to any rare disease solution. First, we need to innovate. Fortunately, that’s not a problem in California. According to the California Life Sciences Association (CLSA), the Golden State has more than 3,400 life sciences companies and research institutes and many of them are working to help patients with rare diseases.
But we must also ensure that patients have access to those treatments. A miracle drug doesn’t help if no one can get it.
This week, more than 70 countries observed World Rare Disease Day to bring greater attention to these conditions.
As a leader of the bipartisan California Legislative Rare Disease Caucus, I am fighting to make sure my fellow legislators understand the problems rare disease patients face and work to smooth the way for evidenced-based new treatments. We work closely with patient advocates, state and federal agencies, innovative life sciences companies, hospitals and other stakeholders to find solutions.
In 1983, the Orphan Drug Act made it easier for biopharmaceutical companies to develop new medicines for rare diseases. Since that landmark bill’s passage, 480 drugs have been approved for nearly 700 conditions.
That’s good, but it’s only a start. The majority of patients have no treatments at all. We must raise awareness and help California develop strong public policies to streamline the drug development pipeline and ensure that everyone with a rare disease gets the treatment they deserve.