One of the leading causes of death in children under one, every day eight Australian babies are born with CHD and four lives are lost to the disease.
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Kaylee underwent her first surgery for a cardiac shunt when she was six weeks old, followed by a full repair at six months. It is still not per cent. At the moment she is doing great. You can't predict per cent what is going to happen. Of the participants, including adult Australians living with CHD and carers, more than 70 per cent were found to be living with symptoms of anxiety or depressive thoughts.
Kaylee needs a brain operation!
Until recently, Bertrand Might was the only known patient with a certain genetic disorder. His parents began searching for others. Matt Might and Cristina Casanova met in the spring of , as twenty-year-old undergraduates at the Georgia Institute of Technology. Within a year, they were married. The couple had their first child, a son, on December 9, , not long after Matt completed his Ph. They named him Bertrand, in honor of the British philosopher and mathematician Bertrand Russell.
After a few blissful weeks, the new parents began to worry.
It took two months to get Bertrand on the schedule of a developmental specialist in Salt Lake City, and the first available appointment fell on the same day as a mandatory faculty retreat. That afternoon, when Matt was able to check his phone, he saw that Cristina had left several messages. The number of them told me this was really bad. Bertrand had brain damage—or, at least, that was the diagnosis until an MRI revealed that his brain was perfectly normal. A subsequent genetic screen ruled out that diagnosis.
When Bertrand was fifteen months old, the Mights were told that urine screening suggested that he suffered from one of a suite of rare, often fatal diseases known as inborn errors of metabolism.
During the next three months, additional tests ruled out most of those ailments as well. As Matt tried to get a foothold in his new job, Cristina struggled to care for a wheelchair-bound child whose condition seemed to worsen by the day. In April of , the Mights flew to Duke University, in Durham, North Carolina, to meet with a range of specialists, including a geneticist named Vandana Shashi, whose clinical practice focusses on children with birth defects, intellectual disabilities, and developmental delays. That fall, Bertrand was rushed to the emergency room after suffering a series of life-threatening seizures.
When the technicians tried to start an I. Later that evening, when Cristina was alone with Matt, she broke down in tears. What if Bertrand was suffering from a disorder that was not just extremely rare but entirely unknown to science?
Still, I Didn’t Want to Admit It
Cristina, who is five feet ten, with porcelain skin and long black hair, greeted me with a hug and a wry smile. In early , the couple had decided to try to have a second child. On the other hand, if the condition had a genetic history, the Mights could pass it on to other children. That summer, Cristina learned that she was pregnant, and on April 14, , she gave birth to a girl, Victoria. Within minutes of the delivery, Matt and Cristina knew that their daughter was healthy; she moved with a fluidity that Bertrand never had.
Bertrand, who was four at the time, was on the floor in the playroom, around the corner from the kitchen. He had round cheeks and a mop of brown hair. As with many children with genetic disorders, he also had some mild facial abnormalities: his eyelids drooped, and his nose was smaller than is typical, with an indentation on the bridge and slightly upturned nostrils. Yet the Mights told me that, for all of his medical issues and his many hospitalizations, he seemed oddly immune to more ordinary ailments, such as colds and allergies.
When Cristina went to get something in the kitchen, she warned me not to let Victoria bite her brother. That evening, over pizza in their dining room, the Mights told me about a pattern they had noticed when Bertrand was a year old. At first, they said, he seemed to represent a challenging problem for each new specialist to solve.
Then, in the summer of , Vandana Shashi, the Duke geneticist, contacted the Mights about a new research project that was exploring whether genetic sequencing could be used to diagnose unknown conditions. The Mights enrolled Bertrand in the study. Genetic testing has been a part of regular medical practice since the nineteen-seventies; it enables doctors to search for mutations that cause known disorders, such as Tay-Sachs disease and sickle-cell anemia. Genetic sequencing, which entered the popular lexicon with the launch of the Human Genome Project, in , allows for the opposite type of search: comparing the entire genomes of people who suffer from an unknown disorder, to see if they have genetic mutations in common.
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Sequencing also allows researchers to compare people who share genetic mutations, to see if they also share any previously unidentified disorders. For years, sequencing was too expensive for common use—in , the cost of sequencing a single human genome was around a hundred million dollars. But by , with the advent of new technologies, that figure had dropped by more than ninety-nine per cent, to roughly fifty thousand dollars. To reduce costs further, the Duke researchers, including Shashi and a geneticist named David Goldstein, planned to sequence only the exome—the less than two per cent of the genome that codes for proteins and gives rise to the vast majority of known genetic disorders.
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In a handful of isolated cases, exome sequencing had been successfully used by doctors desperate to identify the causes of mysterious, life-threatening conditions. If the technique could be shown to be more broadly effective, the Duke team might help usher in a new approach to disease discovery. For their study, Shashi, Goldstein, and their colleagues assembled a dozen test subjects, all suffering from various undiagnosed disorders.
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There were nine children, two teen-agers, and one adult; their symptoms included everything from spine abnormalities to severe intellectual disabilities. That left a short list of about a dozen genes for each patient. The next step was to search through databases to see if any of those candidate genes were already associated with a rare disorder; if so, the patient was probably suffering from an unusual form of a known disease. Two others had de-novo mutations on the same gene, which meant that the Duke team had likely discovered the genetic basis of a new disorder.
As a diagnostic tool, sequencing seemed to work. We would get together with a bowl of popcorn and we made a point to watch it every single week.
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