Being part of the school water polo team and having played the trombone in the school orchestra, Andrew Whittaker was an all-rounded student.

Today, he seems like a completely different person: he suffers from seizures that leave him temporarily paralysed, the weakness makes him fall over, he talks laboriously and his thought are constantly scrambled.

At 28 years old, Andrew can no longer feed himself or walk on his own for the past nine years. But despite a constant stream of doctor appointments, hospital visits and medical tests, he remains undiagnosed.

"You name it, he doesn't have it," said Lynn Whittaker, his mother.

Andrew has had numerous symptomatic diagnosis but no definitive diagnosis or explanation to his illness. He and his family are constantly in a state of suspense, hoping that something will come out of every new exam and evaluation.

The Undiagnosed Disease Network offers hope to medical mysteries

Recently, they have turned to the Undiagnosed Disease Network, a federally funded coalition of universities, clinicians, hospitals and researchers aimed at solving medical mysteries. The health experts in the network utilise advances in genetic science to identify rare and sometimes unknown illnesses.

The UDN was founded in 2015 with a USD43 million grant from the National Institutes of Health (NIH). It builds on work that has already been done at NIH and expanded its coalition to include universities across the country: Harvard, Baylor College of Medicine, Duke University, Stanford University, UCLA and Vanderbilt Medical Centre.

It is based at its clinical centre in Bethesda, Maryland and aims to provide definitive diagnoses for patients like Andrew. Each patient has gone through an application process as UDN only accepts a limited number of patients.

For those that are accepted, a medical team will be assigned to them and the patient's genetic makeup would be mapped, amongst weekly exams and consultations with specialists. A proposal last month by President Donald Trump to cut the NIH budget by USD5.8 billion could possibly put the program in jeopardy.

The miracle of UDN: A medical diagnosis within a day

Recently a team managed to solve a medical mystery in a day through the program. The researchers managed to narrow down the genetic cause of intellectual disability in four male patients to a deletion on a small section of the X chromosome that had not been previously linked to a medical condition.

The Undiagnosed Disease Network has received 1,440 applications and has only accepted 553 for review so far, but the numbers are growing everyday. Photo credit: The Undiagnosed Disease Network Website
The Undiagnosed Disease Network has received 1,440 applications and has only accepted 553 for review so far, but the numbers are growing everyday. Photo credit: The Undiagnosed Disease Network Website

“It took us a year to get all the documentation for writing and publishing the report, but the actual discovery was within hours. It was essential to our discovery that we had at our disposal technology to find and search genomic databases, and to connect electronically and exchange information with other researchers around the world," said senior author Dr Daryl A. Scott, associate professor of molecular and human genetics at Baylor College of Medicine.

This is a rare testament to the usefulness of the initiative but this usually takes a longer period of research despite the best technology and collaboration of the best health experts. Since its launch, the network has received 1,440 applications and has only accepted 553 for review so far, but only 74 of the cases have been diagnosed. Andrew's case is one of the many in progress.

It's like battling "an unknown enemy," said Euan Ashley, one of the principal investigators of the network's Stanford University site. "That is a particular form of torment that other patients don't have."

A diagnosis for a peace of mind

Some patients have taken a different approach by employing the help of CrowdMed, which boasts a more integrative approach by using cross-disciplinary "medical detectives" and prediction market technology to accelerate diagnosis of complex conditions.

However it relies on patient funding and not all "medical detectives" are healthcare professionals. It also makes no guarantees, but since it was founded in April 2013, it claims to have served 400 patients, more than half of whom report that they have been given a close diagnosis or cure.

Regardless of the UDN or CrowdMed, patients just want a diagnosis to end their state of torment and suspense. A diagnosis can also help physicians and scientist better understand rare disease and human physiology, said Rachel Ramoni, former executive director of the UDN.

However, even when disease are diagnosed or gene mutations are discovered, treatments may still not be available.

But for Andrew, who said his relatives have asked if he is scared the doctors will find something, he said "I'm more scare if they don't." MIMS

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