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The undiagnosed disease network is the last hope for people with rare conditions: Skott

Seven-year-old Carson Miller (left) and his brother, 5-year-old Chase Miller (right), both have a degenerative heart disease called MEPAN syndrome. There are only 1 3 people in the world who have it. Courtesy by Andrew Ross-Perry hide caption change caption Honor of Andrew Ross-Perry Seven-year-old Carson Miller (left) and his brother, 5-year-old Chase Miller (right), both have a degenerative heart disease called MEPAN syndrome. There are only 13 people in the world who have it. Courtesy by Andrew Ross-Perry Throughout the country, specialized teams of doctors provide hope for families who are desperately searching for diagnosis. The medical locks, spread over 12 clinics nationwide, form the undecided disease network. Since the program started in 2014, they have identified 31 previously unknown syndrome and have cracked more than a third of their cases, according to a recent publication in the New England Journal of Medicine . "It was like Sherlock Holmes," said Euan Ashley, professor of medicine at Stanford University. "Patients would come with mysterious diseases and we would try to solve them." Although rare diseases are individually very rare, they are collectively surprisingly profound. In fact, if they are grouped into a single category, they are affected by between 25 and 30 million Americans. For people who are capable of mysterious conditions, the diagnosis can finally be life saving or life-changing. Take the confusing case of the two Miller guys from Marin County. A four-year diagnostic odyssey The five-year-old Chase and 7-year-old Carson have attentive thoughts and radiant smiles but…

Seven-year-old Carson Miller (left) and his brother, 5-year-old Chase Miller (right), both have a degenerative heart disease called MEPAN syndrome. There are only 1

3 people in the world who have it.

Courtesy by Andrew Ross-Perry

hide caption

change caption

Honor of Andrew Ross-Perry

Seven-year-old Carson Miller (left) and his brother, 5-year-old Chase Miller (right), both have a degenerative heart disease called MEPAN syndrome. There are only 13 people in the world who have it.

Courtesy by Andrew Ross-Perry

Throughout the country, specialized teams of doctors provide hope for families who are desperately searching for diagnosis.

The medical locks, spread over 12 clinics nationwide, form the undecided disease network. Since the program started in 2014, they have identified 31 previously unknown syndrome and have cracked more than a third of their cases, according to a recent publication in the New England Journal of Medicine .

“It was like Sherlock Holmes,” said Euan Ashley, professor of medicine at Stanford University. “Patients would come with mysterious diseases and we would try to solve them.”

Although rare diseases are individually very rare, they are collectively surprisingly profound. In fact, if they are grouped into a single category, they are affected by between 25 and 30 million Americans.

For people who are capable of mysterious conditions, the diagnosis can finally be life saving or life-changing. Take the confusing case of the two Miller guys from Marin County.

A four-year diagnostic odyssey

The five-year-old Chase and 7-year-old Carson have attentive thoughts and radiant smiles but very cooperative bodies. The blonde blue-eyed brothers can not sit, stand, talk or feed themselves. They have spent their lives in wheelchairs.

Although they go to a primary school and function cognitively like their peers, they are still in diapers. The boys require constant care at home and pay attention to individual assistants in the classroom.

When Carson was about a year old, he was diagnosed with cerebral palsy.

Courtesy by Andrew Ross-Perry

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Honor of Andrew Ross-Perry

The boy’s parents, Nikki and Danny Miller, first noticed a problem seven years ago when their first son did not reach typical milestones like rolling over or crawling. Instead, they witnessed spastic movements and small hands repeatedly in the fists. Babbling never became a word.

When Carson was about a year old, he was diagnosed with cerebral palsy. Then, when the same developmental delays occurred in Millers’s second-born, parents began asking more questions, leading to a four-year diagnostic odyssey with innumerable insufficient laboratory tests. One after another, the specialists shrugged their shoulders.

“It’s very tough because you as a parent blame yourself,” says Danny. “What did I do wrong? Is there anything wrong with my genes?”

Cracking Case

Finally, two years ago, Danny applied to the clinic at Stanford Center for Undiagnosed Diseases. After examining the boy’s medical history, researchers ordered complete genome sequencing for all four family members. Until recently, this type of extensive testing was prohibited expensive.

“We move quickly to the point where it is more meaningful to go directly to the genome than to measure a gene, then another, then another,” said Ashley as he pulls out his laptop to point out the clue within the family’s genetics.

The screen is divided into several lines and columns with long strings of letters representing the human DNA code. Ashley points to a section in the MECR gene, which, when disturbed, changes that part of the brain that controls the movement.

“You can see in the colored section the same gene was struck by two variants one from mother and one from dad, he says. There is an incorrect letter in the boy’s genetic code.” A letter of 6 billion can cause these incredibly devastating diseases, “said Ashley.

Chase Miller plays in the park with his mother and older brother.

Courtesy by Andrew Ross-Perry

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Honor of Andrew Ross-Perry

None of the boy’s two copies of the gene works properly, why Carson and Chase have a brain disease called MEPAN syndrome. Only 13 people in the world are currently known to get it, and there is only one published scientific document about it, “said Ashley.

“At present there is no treatment for MEPAN, but Danny and Nikki hope a strong cocktail of vitamins and supplements will slow down the disease from developing and further limit the boy’s ability to move. The parents also take the boys to physical, occupational and speech therapy to strengthen their muscles and teach them life skills. The boys communicate with computers that are connected to their wheelchairs.

Discovering what was wrong was just one step on the family trip, but a crucial. A diagnosis is the key to refining of treatment and potentially attracts more scientific interest, which can ever lead to cure.

Father Danny Miller’s voice breaks when thinking about the way forward.

“Recently at school, Carson built a sentence that said” I hate my wheelchair ” , says Danny. “Because I know he wants two to go around, play and hide and search with the other kids. Maybe it’s not how things work out. But I’ll do everything in my power to try and make sure it’s happening. “

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