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Rare Genetic Disorder

All articles tagged with #rare genetic disorder

"Rare Condition: Cold Water Triggers Bodybuilder's Heart Failure"
health1 year ago

"Rare Condition: Cold Water Triggers Bodybuilder's Heart Failure"

A Texas bodybuilder has been hospitalized over 20 times due to a rare heart condition triggered by drinking cold water, which was later diagnosed as a genetic aberration causing atrial fibrillation. The condition, exacerbated by high-intensity activities like weightlifting, led to fainting spells and palpitations. After an ablation procedure to cauterize the connection between the vagus nerve and the heart, the bodybuilder has made a full recovery and no longer experiences adverse reactions to water.

via Yahoo Life|
#ablation#bodybuilder#cold-water
"Rare Condition: Bodybuilder's Heart Failure Linked to Cold Water Consumption"
health1 year ago

"Rare Condition: Bodybuilder's Heart Failure Linked to Cold Water Consumption"

A Texas bodybuilder has been hospitalized over 20 times due to a rare heart condition triggered by drinking cold water, which was later discovered to be caused by a genetic aberration leading to atrial fibrillation. The condition, exacerbated by high-intensity activities like weightlifting, caused him to faint. After genetic tests and an ablation procedure, he has made a full recovery and no longer experiences fainting spells when drinking water.

via New York Post |
#ablation#bodybuilder#cold-water
"Rare Genetic Disorder Found in Poplar Bluff Newborn"
human-interest1 year ago

"Rare Genetic Disorder Found in Poplar Bluff Newborn"

The Ice family from Poplar Bluff, Missouri, received a devastating diagnosis just days after their daughter Wrenley's birth, discovering she was born without eyes due to a rare genetic disorder called PRR-12. The family is navigating the challenges of raising a child with this condition, while also cherishing the joy Wrenley brings to their lives. Despite the difficulties, they are determined to provide the best possible life for their daughter and are seeking support through a GoFundMe page.

via KFVS|
#baby-wrenley#family#human-interest
"4-Year-Old Boy Overcomes Rare Disorder with Breakthrough Treatment"
health2 years ago

"4-Year-Old Boy Overcomes Rare Disorder with Breakthrough Treatment"

Four-year-old Lucas, diagnosed with Duchenne Muscular Dystrophy, became the first patient in Massachusetts to receive a new gene therapy approved by the FDA. His parents noticed significant improvements in his mobility just weeks after the treatment. While it's still early to determine the full impact, the family is hopeful and capturing new milestones, as the therapy has given them hope for the future.

via WCVB Boston|
#boston-childrens-hospital#duchenne-muscular-dystrophy#gene-therapy
"Mother's Hope: Seeking a Cure for 8-Year-Old Son's Rare, Fatal Disease"
health2 years ago

"Mother's Hope: Seeking a Cure for 8-Year-Old Son's Rare, Fatal Disease"

Emily Blackburn's 8-year-old son, Grayson Naff, was diagnosed with the rare, genetic, fatal disorder Batten disease, which will lead to vision loss, cognitive decline, and ultimately death. The family is navigating the challenges of managing Naff's symptoms and raising funds for his costly care, while hoping for a cure to be developed in his lifetime. Batten disease currently has no cure, but research and medical efforts are ongoing to find treatments tailored to its different subtypes.

via Yahoo News|
#batten-disease#childhood-illness#family-support
Genetic Test Saves Newborn's Life, Holds Promise for Millions
health2 years ago

Genetic Test Saves Newborn's Life, Holds Promise for Millions

A recent study has shown that whole genome testing, a broad genetic test, is nearly twice as effective as more targeted tests in identifying genetic disorders in sick babies. This breakthrough in genetic testing has the potential to save millions of lives by enabling early diagnosis and treatment of rare genetic disorders. One local newborn, Brynn Schulte, was diagnosed with a rare genetic bleeding disorder thanks to whole genome testing, which ultimately saved her life.

via WKRC TV Cincinnati|
#early-diagnosis#genetic-testing#health
"Rare condition threatens 11-year-old girl's life as she battles extreme weight gain"
health2 years ago

"Rare condition threatens 11-year-old girl's life as she battles extreme weight gain"

Sherafien McDaniel, a mother from Atlanta, Georgia, is defending herself against online trolls who criticize her parenting for allowing her 11-year-old daughter, Angel, who suffers from Prader-Willi syndrome, to reach nearly 300lbs. Prader-Willi syndrome is a rare genetic disorder that causes insatiable hunger. Angel's constant appetite and weight gain put her at risk of serious health issues. Despite attempts to manage the disorder, including appetite suppressants and hormone therapy, Angel's condition remains challenging. Ms. McDaniel is raising awareness about Prader-Willi syndrome on TikTok and urges people to understand the disorder before passing judgment.

via Daily Mail|
#childhood-obesity#health#health-awareness