“Medical Detectives” Solve the Unsolvable for People Suffering Mysterious Conditions

Sufferers of rare undiagnosed diseases are being given life-changing health advice, thanks to a dedicated team of medical detectives.

Since being founded in 2014, The Undiagnosed Disease Network (UDN) has diagnosed and treated hundreds of patients, while identifying 31 previously unknown conditions. The network has an impressive success rate when it comes to identifying undiagnosed health problems, having cracked the code for around a third of its patients.

For some, the medical experts were able to recommend a treatment. If there are no known treatments, the team endeavors to contact patients if a potential solution emerges. The team of specialists pledges to never give up on their patients, when it comes to understanding and treating their condition.  

A lifeline for undiagnosed patients

Living with a debilitating illness is difficult enough, but not knowing what the problem is or whether it’s treatable can be incredibly demoralizing.

It’s an issue affecting roughly one in 20 Americans. Although undiagnosed diseases are individually very rare, they collectively affect an estimated 25 to 30 million people in the United States. Due to the complex nature of undiagnosed diseases, the UDN can’t accept all applicants for further study. However, early evidence suggests it will be able to help a healthy proportion of patients.

A recent study suggested that 382 out of 1,519 patients referred to the network were granted intensive evaluation at no charge. Of these 382 patients, 132 were diagnosed. That’s a 34.5% success rate. Hundreds more have been diagnosed since the study took place. Regardless of whether there is a known treatment, many patients are encouraged by the discovery of what’s actually wrong. Indeed, this is the first step to treating the condition, and the network will continue to monitor and share news about potential solutions.  

Life-changing assistance

The parents of Carson Miller, 7, and his brother Chase, 5, approached the network two years ago, in an effort to solve the mystery surrounding their sons’ physical disabilities. Both boys are wheelchair-bound, as they are unable to stand or walk.

Carson had originally been misdiagnosed with cerebral palsy, but when Chase developed the same issues, the parents felt the need to dig deeper. For four years, they approached specialist after specialist, who each shrugged their shoulders. Ultimately, UDN experts recommended a complete genome sequencing for both children and parents.

The results allowed them to diagnose the boys with MEPAN Syndrome – a condition that only 13 people have been diagnosed with. There is no known cure for this degenerative disease, but it is hoped the vitamins, supplements and muscle-strengthening therapy prescribed to the boys will help to slow its development.

In 2005, Dee Reynolds began to develop slurred speech and poor balance. She also spent years visiting numerous specialists without a verdict.  

After being accepted by the UDN,  she was given (in her own words) “a year’s worth of testing in four days”. This included an MRI scan, skin biopsy, eye exams, psychological exams and a genome sequencing.

She was ultimately diagnosed with Niemann-Pick Type C – a hereditary disease which occurs almost exclusively in young children. Although there are no approved therapies for this condition, there are clinical trials currently taking place. If these are approved, they will be passed on to Reynolds as soon as possible.

The Undiagnosed Disease Network is accepting applicants

“It was like Sherlock Holmes,” explains Euan Ashley, a professor of medicine at Stanford University and co-director of the network. “Patients would come with mystery diseases and we would try to solve them. We never give up.”

The Undiagnosed Disease Network has 12 clinical sites spread across the United States. Those who suffer from unknown health conditions are being encouraged to apply for assistance via its website.


Images: Newsroom-uw-edu, NPR.org, New York Times, Roswell Park.

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