All articles tagged with #genetic condition
Jesy Nelson, a former Little Mix star, shared her personal experience living with SMA, a rare genetic muscle-weakening disease, and discussed her daughters' recent diagnosis with SMA type one. Despite medical predictions of a short life, she has lived to 25, using treatments like Risdiplam and living independently, highlighting advances in SMA care and the importance of routine screening.
Jesy Nelson, former Little Mix singer, shared that her twin babies, born prematurely, have been diagnosed with severe genetic disorder SMA1, which may prevent them from walking. She emphasized the importance of early diagnosis and treatment, and hopes to raise awareness about the condition to help other families.
Jesy Nelson revealed that her twin daughters have been diagnosed with Spinal Muscular Atrophy (SMA), a severe genetic disease that affects muscle strength and may prevent them from walking or surviving past age two, but she remains hopeful with treatment and aims to raise awareness for early diagnosis.
A Manhattan family finally receives a diagnosis and name for their daughter's rare genetic condition after a long search, providing clarity and hope for their future.
Scientists used a biochemical discovery to help an 8-year-old boy with a rare genetic condition regain mobility by administering a precursor to CoQ10 that crosses the blood-brain barrier, marking a promising breakthrough in treating a fatal childhood disease, HPDL deficiency.
A man from St. George is the latest in his family to suffer from kidney failure caused by a rare genetic condition, highlighting a hereditary health issue affecting multiple family members.
A three-year-old girl near York with a rare genetic condition called Hyper-IgE syndrome requires a bone marrow transplant in Newcastle, leading her family to consider relocating and undergo extensive treatment and isolation to improve her immune system.
A 13-year-old girl with a rare genetic condition called WILD syndrome and severe chylous ascites has become the first person in the world to be cured, thanks to a team of pioneering British doctors. After over a decade of searching for a diagnosis and treatment, Dr. Mona Mossad and her team at University Hospitals at North Midlands NHS Trust successfully located and fixed the cause of the fluid buildup in the girl's abdomen. The groundbreaking treatment involved improving her lymphatic drainage and performing challenging surgery to block lymphatic vessels in her liver, ultimately leading to her recovery and return home.
A rare six-legged mountain gazelle with a genetic condition known as polymelia was spotted in Israel's Nahal HaBoshor nature reserve, defying expectations by thriving in the wild. Despite the extra legs on its back, the gazelle is healthy, strong, and has even sired offspring. The condition, which is rare in gazelles and mostly occurs in cattle, birds, and reptiles, has not hindered the gazelle's ability to navigate its territory near the war-torn Gaza Strip. This remarkable survival story highlights the resilience of this protected species in the region.
Lynch syndrome is a little-known genetic disorder that greatly increases the risk of various cancers, including colon, colorectal, uterine, ovarian, stomach, small bowel, kidney, bladder, and brain cancer. Due to its silent nature, 95% of patients with the condition are unaware of it until they develop cancer. Genetic testing through blood or saliva tests can diagnose Lynch syndrome, and those who test positive should undergo regular screenings, especially colonoscopies, to monitor for cancer. A clinical trial for a new cancer vaccine targeting Lynch syndrome patients is underway, with the potential to extend to other types of cancers if successful. It's crucial for individuals to discuss their family history with their primary care doctors and consider genetic testing, as early detection can lead to more frequent screenings and potentially life-saving interventions.
Former NBA player Scot Pollard, who needs a heart transplant due to a genetic condition, is facing challenges due to his size, making it difficult to find a suitable donor. He is currently in the ICU at Vanderbilt University Medical Center, waiting for a heart to surface. Pollard's health has been declining, and he has been advised to register for the transplant list in multiple places to maximize his chances of getting a heart quickly.
Former NBA player Scot Pollard, who needs a heart transplant due to a genetic condition exacerbated by a virus, is waiting in a hospital for a donor big enough to match his 6-foot-11, 260-pound frame. His condition, which has been affecting his quality of life, requires a heart that can supply blood to his extra-large body. Pollard, 48, is navigating the complex organ transplant system and hopes for a donor to surface soon, acknowledging the bittersweet nature of the situation.
A Missouri couple was shocked when their baby girl, Wrenley, was born without eyes due to a rare genetic condition affecting only 30 people worldwide. Wrenley has haploinsufficiency of the PRR-12 gene, causing her eyes to not develop in the womb. The family is preparing for surgery to unseal her eyelids and provide prosthetics to help her facial structure develop normally. Experts estimate a 50 percent chance Wrenley could pass the condition on to her future children. The family has launched a GoFundMe to cover medical costs, and they are focused on helping Wrenley navigate the world without vision.
A mother shares her experience of participating in a Stanford study on Fragile X, a genetic condition causing developmental problems, with her daughter. The study involves wearing NIRS caps to map neuro-responses and evaluate how girls with Fragile X connect and collaborate with their closest ones. The mother reflects on the challenges and adjustments in her relationship with her daughter due to the diagnosis, and the impact it has on their everyday interactions and future plans.
A Michigan mom credits her baby with saving her life after being diagnosed with a rare genetic condition that led to a life-threatening aortic dissection during pregnancy. Despite initial misdiagnosis, she underwent emergency surgery and gave birth to a healthy daughter. Further testing revealed Loeys-Dietz syndrome, necessitating future procedures and ruling out future pregnancies, but she is grateful to be alive and cherishes every day with her "miracle" daughter.