Danny, Isovaleric Acidemia, Age 21
When I was three years old, I was diagnosed with a genetic disorder called Isovaleric Acidemia (IVA). Having IVA means that I have to keep track of my daily protein consumption. The enzymes in my body do not break down protein the same as people without the disorder. If I do not achieve the amount of protein I need (75 grams), then like anyone else, I am not getting enough protein to be healthy. However, if I consume too much, my enzymes will break down the protein it can, but the excess will build up as waste in my body. If enough waste builds up, my immune system can shut down, making me more susceptible to deadly diseases. Twice a day I take Carnitine and Glycine to stabilize my levels.
Despite being diagnosed with the disorder at three, I have had IVA since birth. Both of my parents are carriers of the disorder, but they were unaware until the day I was diagnosed. The first three years of my life tormented my parents because no matter what they did to take care of me, I was irritable and sick, and they had no idea why. Eventually, my protein consumption became so inconsistent that my whole body shut down. I fell into a coma for approximately 36 hours. With a 50/50 chance of survival, there was an even lesser chance of surviving with a functioning brain. Luckily the wonderful people at St. Louis Children’s Hospital saved my life.
After being diagnosed with the disorder, my parents tried to learn as much about the rare disease as possible. In addition to that, they began lobbying for Expanded Newborn Screening, allowing parents to screen their newborns for diseases as soon as they’re born. In 2005, my family had the opportunity of meeting Governor Roy Blunt Jr. as he signed off on Expanded Newborn Screening for Missouri. While it is pretty cool having a piece of state legislature be based on my story, I am happier that current and future parents don’t have to worry about being blindsided by their children’s sicknesses or worse. It also allows for doctors to treat children with disorders sooner, ensuring the best possible result.
In July of 2010, I was granted a wish by the Missouri Make a Wish Foundation. Since I idolize the most recent Hall of Fame inductee, Derek Jeter, my wish was to meet him at Yankee Stadium. Spending a whole week in New York, my family and I went to the Empire State Building, the Statue of Liberty, downtown Manhattan, and, of course, Yankee Stadium. We had dinner at the ballpark, a tour of the stadium, and I got to go down to the clubhouse where I met Derek Jeter in addition to over a dozen other Yankees. Sitting five rows behind Rudy Giuliani, who I did not know at the time because I was eleven, we watched the Yankees beat the Tampa Bay Rays 5-4 on a walk-off single by Nick Swisher. I refer to that week as the high point of my life, and I have my parents, the Make a Wish Foundation, and even my disorder to thank.
Almost ten years later, I find myself as a junior at Southeast Missouri State University, majoring in English Education with a minor in Film and Literature. Keeping track of my diet can be difficult at times between being on my own for the first time and having to balance everything else that comes with being in college. However, with the strong supporting cast that I have, I am currently a proud member of the Sigma Chi Fraternity while carrying a 3.85 GPA.
Danny
St. Louis, MO
danieldobbs1998@aol.com
From the Spring 2020 OAA Newsletter
Despite being diagnosed with the disorder at three, I have had IVA since birth. Both of my parents are carriers of the disorder, but they were unaware until the day I was diagnosed. The first three years of my life tormented my parents because no matter what they did to take care of me, I was irritable and sick, and they had no idea why. Eventually, my protein consumption became so inconsistent that my whole body shut down. I fell into a coma for approximately 36 hours. With a 50/50 chance of survival, there was an even lesser chance of surviving with a functioning brain. Luckily the wonderful people at St. Louis Children’s Hospital saved my life.
After being diagnosed with the disorder, my parents tried to learn as much about the rare disease as possible. In addition to that, they began lobbying for Expanded Newborn Screening, allowing parents to screen their newborns for diseases as soon as they’re born. In 2005, my family had the opportunity of meeting Governor Roy Blunt Jr. as he signed off on Expanded Newborn Screening for Missouri. While it is pretty cool having a piece of state legislature be based on my story, I am happier that current and future parents don’t have to worry about being blindsided by their children’s sicknesses or worse. It also allows for doctors to treat children with disorders sooner, ensuring the best possible result.
In July of 2010, I was granted a wish by the Missouri Make a Wish Foundation. Since I idolize the most recent Hall of Fame inductee, Derek Jeter, my wish was to meet him at Yankee Stadium. Spending a whole week in New York, my family and I went to the Empire State Building, the Statue of Liberty, downtown Manhattan, and, of course, Yankee Stadium. We had dinner at the ballpark, a tour of the stadium, and I got to go down to the clubhouse where I met Derek Jeter in addition to over a dozen other Yankees. Sitting five rows behind Rudy Giuliani, who I did not know at the time because I was eleven, we watched the Yankees beat the Tampa Bay Rays 5-4 on a walk-off single by Nick Swisher. I refer to that week as the high point of my life, and I have my parents, the Make a Wish Foundation, and even my disorder to thank.
Almost ten years later, I find myself as a junior at Southeast Missouri State University, majoring in English Education with a minor in Film and Literature. Keeping track of my diet can be difficult at times between being on my own for the first time and having to balance everything else that comes with being in college. However, with the strong supporting cast that I have, I am currently a proud member of the Sigma Chi Fraternity while carrying a 3.85 GPA.
Danny
St. Louis, MO
danieldobbs1998@aol.com
From the Spring 2020 OAA Newsletter
Above Photo is the family with Gov. Blunt is 2005. (Back row Joe, Gov. Blunt, and Sharon. Front row Jake and Danny)
Picture above in story is Danny and Jake in Cancun, December 2019. Danny is in blue shirt.
Picture above in story is Danny and Jake in Cancun, December 2019. Danny is in blue shirt.