Our Kids / Elizabeth Propionic Acidemia Our adventure started December 17, 2015. Elizabeth was born on her dad’s birthday. Everything seemed normal, first dirty diaper, hearing test, and heal pricks. When she was two days old, she started losing her
Our Kids / Delany & Nathan MMA Cbl B It has taken me a while to get the courage up to tell you about my children. Sometimes I often read all the stories and wonder why we are so lucky.
Our Kids / Connor & Nathan D-2HGA D-2HGA is a very rare neuro-metabolic disorder in which cells produce a toxin that causes progressive damage to the cerebrum, the part of the brain that controls speech, memory, and movement. Since its
Our Kids / Christy MMA Mut 0 On December 2, 1980 after a text book perfect pregnancy and delivery our daughter was born. She had a head full of red hair and the Dr. said she was perfect. We named
Our Kids / Amber MMA, Mut 0 As I approach the five-year anniversary of my transplant, I recall all that I went through in the hospital — people who visited me, workers who went out of their way to get
Our Kids / Vincent MMA Mut 0 Vince’s story began on February 19, 1997, some of you may have read the article on him about seven years ago. For those of you who didn’t, I’ll go ahead and reintroduce him.
Point-of-Care Ammonia Monitoring from a Single Drop of Blood Thomas Veltman, Ph.D., Aza Technology, Inc.tv@azatechnology.com In an earlier article in this newsletter, I described my efforts, along with a team of other researchers, towards producing a point-of-care ammonia meter with
PA Study at the NIH Natural History, Physiology, Microbiome and Biochemistry Studies of Propionic Acidemia Dr. Chuck Venditti and Dr. Oleg Shchelochkov seek Propionic Acidemia patients for their study. Hi – We are happy to announce that the NIH has
MMA Study at the NIH The NIH has been recruiting MMA patients to their study since 2004. Below are links that describes the study and how to sign up. Clinical Study Links: Clinical and Basic Investigations of Methylmalonic Acidemia (MMA)
A Novel Gene Medicine Approach for the Treatment of Rare Early Onset Diseases LogicBio Therapeutics, Cambridge, MA The field of gene therapy has experienced a renaissance in recent years, having rebounded from the clinical setbacks of decades past. The
