A rare genetic condition meant a lot of uncertainty for an unborn baby. A multispecialty Stanford Medicine Children’s Health team came together to find answers.
Posts Tagged with
genetics
Genetics Team Serves as Go-to for Mom of Son With Extremely Rare Disorder
Asher Gerlach, age 6, is a special kid. Not only because he’s one of just 20–30 children in the world with an exceptionally rare genetic disease, according to medical literature, but also because he has a refreshing take on life.
Avery’s Family Finds Answers in Her Genes
A diagnosis of Coffin-Lowry syndrome and monitoring by a team of experts puts a family at ease.
Claire Dances Into a Bright Future With CF
Claire has cystic fibrosis, but new treatments that attack the disease at the genetic level are helping her live a full life.
What gene discovery means for families and physicians seeking answers to medical mysteries
Families and physicians seeking answers to the medically unknown turn to genomics experts to unlock secrets hidden in genes.
Tessa’s mystery condition gets a diagnosis
The Nye family spent years chasing a diagnosis for Tessa, who experienced hundreds of seizures a day, but doctors found no genetic cause for her disorder.
Stanford Medicine Children’s Health adds Fertility and Reproductive Health Services
The longstanding expertise of Stanford Medicine’s Fertility and Reproductive Health team has a new home: This month, the team moved to Lucile Packard Children’s Hospital Stanford and Stanford Medicine Children’s Health.
Q&A with Greg Enns, MD, about NGLY1 deficiency, a newly discovered genetic disease
Gregory Enns, MD, pediatric geneticist at Lucile Packard Children’s Hospital Stanford and a professor of… Read more »
Appetite for Life
Caitlin Burns was born with an immune deficiency and pseudo-obstruction of the gastrointestinal tract, a life-threatening condition that prevents the normal movement of food through her intestines. Packard specialists have been caring for her since she was an infant.