Tag

Rare Genetic Condition

All articles tagged with #rare genetic condition

Parents Share Heartbreak After Baby Dies from Rare Skin Disorder

A Boston mother, Erin Jean, shares her heartbreak after losing her two-month-old son, Felix, to epidermolysis bullosa (EB), a rare genetic condition causing painful skin blisters and peeling. Despite efforts to manage his condition, Felix's parents decided on palliative care due to his deteriorating quality of life. Felix passed away at home, surrounded by family. Erin and her husband, Travis, are now focused on keeping Felix's memory alive for their other children and credit non-profit Debra and Mass General medics for their support.

via Daily Mail|

#epidermolysis-bullosa #family-grief #health-and-family

health1 year ago•5 min saved

"Parents' Worst Fear: Triplet Spends Birthday in Hospital"

Maverick Carpenter, a triplet born with a rare genetic condition and underdeveloped hands, spent his first birthday in the hospital fighting bacterial meningitis. His parents, who struggled with fertility issues, feared the worst as the infection spread to his brain, but after a craniotomy and a touch-and-go recovery, Maverick is now improving, though he faces challenges ahead. The family is grateful for the support received and has set up a GoFundMe to help with mounting medical bills.

via KSL.com|

#bacterial-meningitis #birthday #family-struggles

health2 years ago•3 min saved

Rare 'Flipped Organs' Condition Leads to Double-Lung Transplants for 2 Patients

Two patients in Illinois, Dennis Deer and Yahaira Vega, who were born with the rare genetic condition situs inversus, have successfully undergone double-lung transplants. Situs inversus causes organs in the chest and abdomen to develop in a reversed or mirrored position. Vega also had primary ciliary dyskinesia, which led to mucus build-up in her airways. Both patients received their transplants at Northwestern Memorial Hospital, with Vega's operation taking place on April 28 and Deer's on May 22. The surgeries were complex due to the mirror-image nature of their bodies, but the patients are now experiencing improved health and are grateful for their new lease on life.

via ABC News|

#double-lung-transplants #health #medical-breakthrough

health-and-wellness2 years ago•2 min saved

FDA Approves Gene Therapy for Rare Genetic Condition in Boys

The FDA has approved a gene therapy treatment for boys aged four and five with Duchenne muscular dystrophy, a rare and fatal genetic disorder that causes muscle degeneration. The treatment involves delivering a replacement gene through a disabled virus, and it has shown promising results in clinical trials. However, concerns have been raised about the high cost of the treatment, which is priced at $3 million. Despite this, families affected by Duchenne muscular dystrophy see the approval as a reason for hope and believe it will change the trajectory of the disease.

via NBC Chicago|

#clinical-trial #duchenne-muscular-dystrophy #fda-approval

health2 years ago•1 min saved

"McCandless Baby Battling Rare Condition Finally Finds Bone Marrow Donor"

A bone marrow donor has been found for a McCandless baby who is battling a rare genetic condition caused by a TLR8 gene mutation. The family announced the news on Facebook and will be leaving for St. Louis to begin treatment on July 9. The baby will undergo chemotherapy on July 24, with the bone marrow transplant scheduled for August 3.

via WPXI Pittsburgh|

#bone-marrow-donor #health #mccandless-baby