Lucy

Propionic Acidemia

My daughter Lucy is 21 and has Propionic Acidemia. Lucy had a metabolic crisis at birth and the neonatologist immediately suspected an organic acidemia. It took about a week to confirm a diagnosis but the excellent team of doctors at the University of Kentucky’s Children’s Hospital began treating her for an organic acidemia right away. She was in a coma for several days and required dialysis. She had seizures with her initial crisis. We ultimately traveled to Atlanta to see a specialist in the field where we me Dr. Rani Singh who has guided us through the years with Lucy’s care. Our life with Lucy has never been easy and I live daily with the fear of when the next crisis will be, but she is doing well right now. We went to the NIH to participate in a study to develop newer treatments for PA this past spring. She was poked and scanned and interviewed. We collected every lab sample you can think of. While we saw many of the same results as others with PA, we were happy to see that some things continue to remain normal for Lucy. Her heart pumping function and kidney function are currently normal. Her amino acid levels were as normal as they can be for PA after a 10 hour fast. And yet she has very little enzyme function. She does have autism and her IQ has dropped significantly since middle school. What does all this mean? Who knows, but we have hope that one day maybe there will be a treatment that will allow less dietary restrictions. We struggle more with her medical needs and fearing loss of medical stability than with her autism. We are constantly on our toes, waiting for the other shoe to drop. It is hard to enjoy the stability and achievement we have in the present. I remember being given an OAA calendar during the first days of Lucy’s life and seeing stories of other children with PA. I was grasping for some hope of a future for her. Would she talk, walk, have friends, go to school, have tea parties, play dress up, graduate, have a job. It was and is still scary. That calendar and the stories that went with it gave me a little hope. I want to do that for others.

​Lucy does talk (a lot). She walks, rides a bike and an electric scooter to the local Rite Aid and her favorite – Yard Sales. She belongs to a special needs dance class.  She has a strong passion for helping others with disabilities and has found a way to fulfill that by going into schools and the Down syndrome meetings where she assists the instructor with the Allegro Dance Program (a special needs dance program).  She has lots of friends. She eats a large variety of foods. She had tea parties, played dress up, cheered, she graduated from high school, has a job at a childcare center.  She took a college class and with help studying was able to pass the test required to get a national certification for childcare (Child Development Associate). She is a beautiful young lady and enjoys her life. Although we struggle daily with the constraints of her needs due to Propionic Acidemia, there is hope.
 
Julie
jul0810@gmail.com

From the December 2019 OAA Newsletter