medical genetics

"Nathaniel Newman and his mother, Magda, tell the story of his growing up with Treacher Collins Syndrome, the same craniofacial syndrome as the boy from 'Wonder,' from facing sixty-seven surgeries before the age of fifteen, to making friends, moving across the country, and persevering through hardships. How they tackle extraordianry circumstances with love and resilience is a true testament to Nathaniel and Madga's extraordianry family, and to families everywhere who quietly but courageously persist"--Provided by publisher.

Alphabetical articles provide information on genetic disorders, including conditions, tests, procedures, treatments, and therapies.

Presents alphabetized profiles of genetic diseases and conditions, as well as non-disorder entries such as "Multifactorial inheritance." Each profile provides a disorder's genetic profile, demographics, and signs and symptoms; discusses diagnosis, treatment, and prognosis; andlists related resources. This volume covers M-Z and includes a chromosome map, glossary, and index.

When a rare genetic disorder steals away her memories and then her health, teenaged Sammie records notes in a journal to her future self, documenting moments great and small.

First identified in the nineteenth century, Down syndrome is one of the most recognizable genetic disorders, marked by characteristic facial features and mild to moderate intellectual disability. Since scientists discovered in the 1950s that people with Down syndrome have an extra copy of chromosome 21, there has been much more research into the disorder, how to screen for it, and how to treat individuals who have it. This informative book covers all aspects of Down syndrome and includes accounts from people who have it.

Cystic fibrosis is a genetic metabolic disorder that affects the respiratory and digestive systems. Although the mortality rate for infants and children with cystic fibrosis used to be very high, more than half of all patients with cystic fibrosis now survive into adulthood thanks to the development of treatments such as gene therapy. This book explains the symptoms, causes, and treatments of cystic fibrosis, as well as highlighting the experiences of people who have the disease.

When a rare genetic disorder steals away her memories and then her health, teenaged Sammie records notes in a journal to her future self, documenting moments great and small.

"The phone rings. The doctor from California is on the line. "Are you ready Amanda?" The two people Amanda Baxley loves the most had begged her not to be tested-at least, not now. But she had to find out. If your family carried a mutated gene that foretold a brutal illness and you were offered the chance to find out if you'd inherited it, would you do it? Would you walk toward the problem, bravely accepting whatever answer came your way? Or would you avoid the potential bad news as long as possible? In Mercies in Disguise, acclaimed New York Times science reporter and bestselling author Gina Kolata tells the story of the Baxleys, an almost archetypal family in a small town in South Carolina. A proud and determined clan, many of them doctors, they are struck one by one with an inscrutable illness. They finally discover the cause of the disease after a remarkable sequence of events that many saw as providential. Meanwhile, science, progressing for a half a century along a parallel track, had handed the Baxleys a resolution-not a cure, but a blood test that would reveal who had the gene for the disease and who did not. And science would offer another dilemma-fertility specialists had created a way to spare the children through an expensive process. A work of narrative nonfiction in the tradition of the The Immortal Life of Henrietta Lacks, Mercies in Disguise is the story of a family that took matters into its own hands when the medical world abandoned them. It's a story of a family that had to deal with unspeakable tragedy and yet did not allow it to tear them apart. And it is the story of a young woman-Amanda Baxley-who faced the future head on, determined to find a way to disrupt her family's destiny. "--.

Complete dictionary of genetic disorders and birth defects. Includes lists and addresses of federal 0rganizations, regional genetic services, and state treatment centers.