Another heartbreaking story of a little girl suffering from P.A.
WHAT EXACTLY IS PA?
Propionic Acidemia is a rare disorder that is inherited from both parents. Neither parent shows symptoms, but both carry a defective gene responsible for this disease. It takes two faulty genes to cause PA, so there is a 1 in 4 chance for these parents to have a child with PA.
Individuals with PA can not break down parts of protein and some types of fat due to a non-functioning enzyme called PCC. Without the enzyme propionyl CoA carboxylase, four essential amino acids in protein (isoleucine, valine, threonine, and methionine) are only partially processed. Too much protien causes propionic acid to build-up in the bloodstream. This in turn causes a build-up of dangerous acids and toxins, which can cause damage to the person’s organs. In many cases, PA can damage the brain, heart, and liver, cause seizures, and delays to normal development like walking and talking. During times of illness the affected person may need to be hospitalized to prevent breakdown of proteins within his/her body. Each meal presents a challenge to those with PA. If not constantly monitored, the effects would be devastating. Dietary needs must be closely managed by a metabolic geneticist or metabolic dietician.
Hi, my name is Gwen. I'm 28 months old. Even though I've been admitted to Children's Hospital at least 40 times, I'm a very happy girl & love almost everything in life. Some of my current favorite phrases are: Change dipey (diaper)* I go bye bye * Go Bucks! * Doggie! * I love Barney. I weigh 36 pounds & I'm 36 inches tall. Since January 2007 I've been fed 100% by an enteral feeding pump because I refuse to eat anything by mouth. I've had a j-tube since Aug 2007 that takes my food straight to my intestines (less vomiting), so I wear a backpack to carry my pump & food. Occasionally, I like to drink a sip of water. I can walk quite well, but I'm still heavy on my feet. I'm an expert at climbing. When I'm well, I have a lot of energy! I know I'm super cute, but what I don't yet know is that I'm very brave, I have an endless capacity to forgive, I have an amazing will to live, & I have a beautiful spirit from God that's touched the lives of hundreds.