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By Elizabeth Chuck
Jenna King was desperate. Her toddler, Archer, suffered from violent involuntary muscle twitches last year.. Even in his sleep, the little boy had episodes, sometimes waking up with a bloody nose after slamming on his mattress.
The doctors did not know how to help it. The 2-year-old has a rare genetic mutation that would only affect around 20 people worldwide. There is therefore little information on the symptoms, treatments or prognosis of his condition – which, in addition to causing mobility problems and convulsions, affects every aspect of his development.
In the hope of finding answers, King, a Navy veteran and former law enforcement officer turned full-time mother in Victorville, California, opened Facebook and seized the Archer mutated gene: RHOBTB2. A small private group on Facebook appeared. King rejoined and discovered a dozen other parents of mutation-bearing children who shared advice from as far away as Europe and Australia.
She introduced herself to the group and searched through the messages for an answer to her question: Did anyone understand how to prevent their children's muscles from deflating?
One drug that worked for another child looked promising. This led King to question Archer's neurologist about a similar drug, which had not been previously announced by the doctor, and they decided to try it. It was a success: it halved the frequency of Archer's muscular episodes.
"This is a breakthrough for us," said King, 41, who has maintained regular contact with other parents on Facebook. "With this group we are such a strange and wonderful family."
Historically, for people with rare diseases, getting a diagnosis – if a doctor could give them one – meant receiving barely more than a mystifying label. Patients often felt alone with their symptoms and doctors were often perplexed about how to treat them.
But over the last decade, thanks to advances in medicine that make it easier to spot unusual conditions and the growing number of online communities around them, those who are being told are unique in finding others.
"We are light years away from what it was," said Sharon Terry, a mother of two who was diagnosed with pseudoxanthoma elastic (PXE), a rare condition in 1994. Terry is president and chief of the Leading the Genetic Alliance, a non-profit advocacy network of approximately 1,200 disease organizations that promote patient research and support.
"When a new mom tells me today:" Oh my God, my child has just been diagnosed and we do not know anyone with this disease, "it's so much easier to tell them : Here are the places you can post, here's what you can do with a click of a button with Facebook, with Twitter, with Instagram, "she said.
In recent conversations with NBC News, nearly a dozen parents of children with very rare diseases have been referred to such groups, ranging from stopping crises to appeasing non-verbal children. They told "heartbreaking" moments when parent friends gave their names to life-saving medications, suggested heavy blankets to help children sleep, and recommended hydrotherapy to develop the muscles of children who can not walk. In many cases, parents said that physicians – who generally dissuaded people from relying on Internet medical advice – had welcomed the recommendations as clues to developing a treatment plan.
And then there is the most pressing question that some parents are trying to answer in these groups: how long can their child live.
Kelsey Easler's son, 3-year-old Liam, has the same rare genetic mutation as Archer King. For Easler, of Mariposa, Calif., Joining the RHOBTB2 Facebook group and seeing other parents post pictures of children well in their teens gave him hope.
"Until then, I had no idea what his life expectancy could be," said Easler about his son, whose future was a question mark since the diagnosis . "It's just not something you want to talk about, and it has provided me with some relief."
More easily diagnosed than ever
Centers for Disease Control and Prevention define a rare disease as a disease that affects fewer than 200,000 people in the United States. Overall, rare diseases affect many more: about 25 million people in the United States and 400 million worldwide, says the CDC. It's unclear how many people touch a handful of people, such as Archer's and Liam's genetic mutation.
Experts say rare diseases are diagnosed more easily than ever thanks to medical technologies such as exome sequencing, which analyzes the genes encoding proteins containing many genetic abnormalities, and whole genome sequencing, which analyzes complete DNA of a person to identify genetic variations. The tests, which were once prohibitively expensive, cost only $ 250 for exome sequencing and $ 1,500 for genome sequencing.
The biggest effort to identify previously unrecognized conditions is led by the Undiagnosed Diseases Network, a national consortium of clinical experts and researchers created in 2014. To unravel the medical mysteries, the network connects patients with patients. top specialists in the country, examine their DNA and consult research groups about their symptoms. Because the work is supported by the National Institutes of Health, testing and assessments are usually done at no cost to the patient.
To reach a diagnosis can take months or years. Until now, the network has established a diagnosis for just under a third of the more than 1,100 evaluated cases – and even then, there is often little patient guidance on options. treatment. The network of undiagnosed diseases does not treat patients once the diagnosis is made, but puts them in touch with researchers or physicians who have studied their disease, if any. And genetic counselors encourage patients to search online for other people with their disease.
"For these rare conditions, this could be one of the only clear next steps that exist," said Kim LeBlanc, genetic counselor and assistant director of research operations for the Undiagnosed Diseases Network Coordination Center. "It's great for patients and their families to be able to find other people who have similar symptoms, who have the same problem, and learn how people have lived with this condition."
Race against the clock to find advanced treatments
Matt Might's son, Bertrand, age 11, was diagnosed with a progressive genetic metabolic disorder, called NGLY1, seven years ago. At the time, the Mights had learned that Bertrand was the first patient to have been diagnosed: "I think that all parents want to believe that their child is unique, but it was much more unique than I do." Would have expected, "said Might.
The specialists told the powers that there were probably several hundred people in the world who had the same illness but who had not been diagnosed. Eager to gather as much information as possible for his son – who does not know how to walk or talk and who has vision problems – Might, a computer scientist by training and now director of the Precision Medicine Institute of the University of California. Alabama in Birmingham, wrote a blog An article filled with keywords that, in his opinion, would attract others The symptoms of Google associated with the disease: convulsions, mobility problems, developmental delays – and a lack tears, one of his most unique symptoms.
"I started writing this code, so if someone did a diagnostic odyssey, it would take him to the post," Might said. "I wanted it to become viral."
It made. In the first year, Might found eight more patients. He has now connected with nearly 70 around the world.
Might has learned a lot from the other members of the group. Bertrand had trouble eating and drinking, but his parents initially refused to give him a gastrostomy tube, a way to provide nutrition via a tube connected to the stomach because it required a surgical intervention. However, they understood that it was the right decision to make after talking to other parents and learned that NGLY1 patients had a high likelihood of aspirating or getting food into or out. liquids in the lungs, resulting in pneumonia.
Bertrand uses a wheelchair and a communicator, a speech system that allows him to view images on an electronic tablet to build sentences. His parents just provided him with a huge aquarium for his room – which he had requested with the tool.
"Doctors can not [give us a prognosis] because they have never really studied the question, but we can do it because we have met other families and we know the evolution of this disease. We know that Bertrand could live in his twenties or thirties, "said Might. "We know it will progress, but we have the ability to keep it happy."
When there is no online community to turn to
Sometimes rare diseases are so rare that there is no Facebook group to join.
Mitchell Herndon, 19, of Affton, Missouri, suffers from a neurological disease that has, over the past seven years, progressively affected her spinal cord, hearing, and ability to move her arms and legs. Doctors say that the disease, a mutation of the ACOX1 gene, was only diagnosed in another person: a teenager in South Korea who was unable to communicate.
Over the years, Herndon has come in and out of the hospital with what his family and himself call "relapses". He lost the ability to walk several times and, until his last relapse last fall, he found it to a certain extent, thanks to physical therapy and medication. Now he uses a wheelchair and wears cochlear implants to help him overcome his hearing loss.
Herndon has found fellowships in the deaf community and among others with muscular disorders. But he has not yet found anyone who can understand the ups and downs of his illness.
"At the end of the day, I do not really belong to any particular place," he said.
This has been difficult for Herndon, especially since doctors can not tell her what her future will look like.
"If I knew someone who was 50 and had the same thing, he was doing incredible things, it would erase a lot of anxiety," said Herndon. "If we discovered that it's progressive, it would be nil, but at least I would know what to expect."
The gift of giving dreams back
The future is one of the biggest gifts that Archer's mother, King, received from her online group. Archer is 3 years old on Monday and has recently gained the ability to stand up. He can babble. But his doctors can not tell if he will walk or talk one day.
King loves to see other members of the RHOBTB2 group publish smiling photos of their kids, romp around the pool during water therapy and take important steps as they grow up. All children have a profound handicap, but some, who are older than Archer, can take a few steps or say a few words.
"When you have a child for the first time, you look forward to all the firsts," King said. The Archer arrived later, if at all. He did not stay unattended until the age of one and a half – a year later than many babies. "It takes away all your dreams, and you must be distressed by all those dreams you have made for him."
"But having this insight that he can achieve good things and that he can be happy," she said, "it's sort of what made us those hopes" .
Shako Liu contributed.
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