Building awareness and communities to support and find treatments for Rare Diseases and Genetic Conditions
Nicole Aldrian was diagnosed with breast cancer in November 2012 and is had a bilateral mastectomy yesterday, but instead of worrying about her upcoming surgery, the Murrieta mom is concerned about not being able to care for her four year-old son Trevor while she is in [...]
By Scott and Marie Stanton, parents of Ella Grace. I went in for my scheduled C-section on June 6, 2012. We had a beautiful little girl, 9 lbs 13 oz, 21 ½ inches long, named Ella Grace. She had 10 tiny fingers and toes. She [...]
Debra Sukin and her husband were determined to take no chances with her second pregnancy. Their first child, Jacob, who had a serious genetic disorder, did not babble when he was a year old and had severe developmental delays. So the second time around, Ms. [...]
The Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC) is the only national venue where parents can share their stories and thoughts on newborn screening in public deliberations. If their funding is not extended, this important committee may be forced to close [...]
Aidan was having some vision problems starting in late March 2011. He was doing really well in school. The only problem was he was reading and writing really close to the page. Two ophthalmologists we had visited with said he had 20/20 vision. The latter explained how [...]
Sao Paulo, Brazil is massive. I looked out over the city a few days ago just before my plane landed. And honestly, massive barely describes it. The Sao Paulo metro area is about 3,000 square miles with a population of around 20 million. It’s the [...]
Kristin was diagnosed with a rare metabolic disorder called Homocystinuria (HCU) following the start of mandatory newborn screening in the state of Maryland. About 1 baby in 300,000 is born with HCU. HCU affects the body’s ability to breakdown an amino acid in protein. This [...]
