In a northern California suburb in 1999, Kaitlin Burns was born very sick, that much was certain. She was extremely lethargic, vomited non-stop and soon wouldn’t eat anything. When her family finally received a diagnosis two weeks after her birth, the news was devastating.
Kaitlin was diagnosed with propionic acidemia, a rare, inherited metabolic disorder that affects about one in 100,000 in the United States. Propionic acidemia prevents the body from processing protein properly, leading to an abnormal buildup of a group of acids known as organic acids. Abnormal levels of organic acids in the blood, urine and tissues can be toxic and can cause serious health problems.
Michelle Burns, Kaitlin’s mother, recalls how the local hospital at the time was their second home. “During the first year of her life, I can’t even count on my fingers and toes how many trips we made,” she explains.
Living with propionic acidemia
Because her body was being attacked by toxins, Kaitlin didn’t develop like a ‘normal’ child. She was in a constant fog, used a feeding tube, had no stamina and was bound to a wheelchair. “She couldn’t walk from the couch to her bed,” recalls Michelle. “She would slur and stumble and could hardly keep her eyes open. Cognitively and developmentally, she was an infant.”
The Burns family moved to Seattle when Kaitlin was six years old. They later began evaluations and treatment at Seattle Children’s Hospital, where a biochemical genetics team specializes in patients with propionic acidemia.
“We’ve been to at least five other hospitals with Kaitlin, and Children’s is the first place where we felt like a part of the team,” says Michelle. “I’d heard of another propionic acidemia child who received a liver transplant and saw great improvement, so I brought it up to Dr. Simon Horslen and he immediately recommended we sit down with the metabolic team and the transplant team and discuss it – the communication was so great.”
Kaitlin had such a severe form of propionic acidemia and was deteriorating so rapidly that she was facing either mortality or living out her remaining days without any kind of quality of life. While Michelle wasn’t thrilled about her daughter undergoing a transplant, it soon became their best option. “Plus Dr. Horslen had treated a number of kids with metabolic disorders and made us feel so at ease. I looked at my husband and said, ‘Let’s do this.’”
“Due to the severity of Kaitlin’s condition and the lack of success in other treatments she’d undergone previously, she was an ideal candidate for a transplant,” says Horslen, MB, ChB, medical director of liver and intestine transplant at Children’s. “The outcome for Kaitlin and other propionic acidemia patients after receiving a healthy liver is really quite impressive.”
Kaitlin was put on the organ donor list in October of 2011, and she received a liver in January 2012.
A brand new child
“Just a day out of the transplant, it was like having a totally different kid,” explains Michelle. Kaitlin began speaking more clearly almost immediately and could recall memories of events that had happened years prior. Michelle hadn’t realized Kaitlin comprehended those moments in time and was surprised to hear her describe them after so much time had passed.
Now, at 14 years old, Kaitlin’s parents say she is finally the person she was meant to be. She gets stronger every day, is off a feeding tube and able to eat solid food for the first time in her life, and no longer requires a wheelchair. She doesn’t experience any of her previous propionic acidemia symptoms and is completely stable now that she has a liver capable of metabolizing the amino acids her body was unable to process previously.
Kaitlin and her family recently returned from a trip to Palm Springs where Kaitlin swam nearly the entire time. She’ll be attending summer camp and has become an avid tennis player. “Our Kaitlin was locked inside herself for 13 years; now she’s living life as a typical kid,” says Michelle.
“The quality of life for Kaitlin and for my family has done a complete 180 since the transplant,” Michelle continues. “We now have this fun, witty, amazing kid that we would not have gotten to experience without Children’s.”
Children’s team transplanted 15 livers in 2012. We’ve been providing liver transplants since 1990.
If you’d like to arrange an interview with the Burns family, Dr. Horslen or a Children’s metabolic expert, please contact Children’s PR team at 206-987-4500 or at firstname.lastname@example.org.