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WaPo Spotlights Teenager Whose Doctors Believe She is the Only Person in the U.S. with Ultra Rare Disease

Feb 19, 2016

There are 10,000 known diseases, 7,000 of which are rare, and treatments exist for only 500 of them. These are the numbers that drive the effort to deliver #CuresNow. The rise of personalized medicine and advances in technology and groundbreaking initiatives like the mapping of the genome have made it possible to treat patients in a whole new way, especially those patients with rare diseases. It is important that our laws are updated to keep pace with this innovation – and that’s the mission of 21st Century Cures.

The Washington Post this week profiled a young teenage woman, Hannah Manning, who has a disease so rare, her doctors believe she is the only person in the United States with such a condition. Advancements in technology helped pinpoint the genetic cause of her rare disease. The Post reports,

Hannah had taken several genetic tests over the years, so Pellegrino and her team suggested whole-exome sequencing, which searches all the protein-­coding genes in a person’s genome for mutations responsible for disease. The exome represents only about 1 percent of a person’s genome, or genetic code, but it contains around 85 percent of known disease-related variants. …

The test results were a mixed blessing. The Mannings finally had an answer for what was wrong with Hannah. But the family soon realized there was no community of SCAR9 patients and no drugs to slow the progression of the disease. …

(O)f the nearly 7,000 rare diseases that have been identified, about 3,000 do not yet have a known genetic cause. With the new DNA sequencing technology, though, most of the remaining disease-causing genes might be identified by 2020, according to some genetic experts.

Progress continues to be made, but we have a long way to go. H.R. 6 is an important step to deliver safer treatments and faster cures. The 21st Century Cures effort is about delivering hope for kids like Hannah and her family. Although she might be the only one in the United States with her disease, she is not alone in the Cures effort.

To read more about 21st Century Cures, click here.


February 15, 2016

What do you do when you have one of the rarest diseases around?

For most of her 13-year life, Hannah Manning was a mystery to her doctors. At age 2, she had her first seizure. At 4, she was diagnosed with autism. She developed cognitive deficits, muscle weakness, exercise intolerance, swallowing difficulties, a speech impediment, balance and coordination problems and gastroparesis, a condition that slows the stomach’s ability to empty the food inside.


Hannah’s mother, Christina Wyatt Manning, of Baldwinsville, N.Y., was baffled after several genetic tests came back normal. Finally, in December 2014, Christina and her wife, Kristin Manning, got the explanation they had long been seeking. The answer emerged after doctors ran a new type of DNA test, called next-generation sequencing, to identify abnormalities that may cause disease. The test showed that Hannah had a gene mutation that causes spino­cerebellar ataxia autosomal recessive 9, or SCAR9, an ultra-rare, recessively inherited neurological disorder. Hannah’s doctors believe she is the only person in the United States with the disease and perhaps one of only two dozen in the world.

Next-generation sequencing technology became commercially available only recently, after the first test was given approval by the Food and Drug Administration in 2013. But scientists and clinicians say it has already identified multiple cases similar to Hannah’s, where a patient’s puzzling symptoms turned out to be signs of a rare disease.

As this technology gets cheaper and faster, experts say more patients will get tested and find they have rare diseases. They will have the satisfaction of finding out what is causing their symptoms but then will often face a frustrating question: What do you do when diagnosed with a rare disease that has been studied little and has no known treatment, and few other patients to turn to for support?

“We found a needle in a haystack with this diagnosis,” Christina Manning says. Since then, she has been researching her daughter’s condition nonstop and blogging on her website in hopes of finding researchers, medical specialists and patients who know anything about SCAR9.

One physician and researcher she connected with is Michael Kruer, a pediatric neurologist at Phoenix Children’s Hospital who specializes in genetic diseases and has studied hereditary ataxias, the group of disorders to which SCAR9 belongs.

“Rare diseases are literally coming out of the woodwork,” Kruer says. “We’re starting to realize that, collectively, these rare diseases are more common than we ever thought.” For SCAR9, Kruer says, “We don’t exactly know what the true prevalence of this disease is.” While about two dozen patients around the world have been identified, there may be more who haven’t been diagnosed yet.

In the United States, a rare disease is defined as one that affects fewer than 200,000 people. Because rare diseases affect such small populations and because they are so diverse, it is difficult to conduct the clinical trials that might lead to cures. The Orphan Drug Act of 1983 provided incentives for drug companies to develop treatments for rare diseases. That improved matters somewhat: Before 1983, only 38 drugs for rare diseases had been developed, while 400 have been approved since the law went into effect. But 2015 saw considerable progress, with 21 out of 45 new drugs approvals for rare or “orphan” diseases. …

Read the entire article online HERE.


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