When Kenna Buhr’s family drove her 8 hours from their home in Michigan to St. Louis to be treated for Alpha-1 Antitrypsin Deficiency last November, they learned she would also be the first child enrolled in a national research study to collect information about children living with her condition. SSM Cardinal Glennon Children’s Medical Center participates in the Cholestatic Liver Disease Consortium (CLiC), and for her first in the nation status, Kenna is now referred to as its “million dollar baby.”
“The mission of this study is to collect a backbone of information about Alpha-1 Antitrypsin Deficiency and other rare liver diseases in children to find new and better treatments,” explained Jeffrey Teckman, M.D., pediatric gastroenterologist at Cardinal Glennon. “The CLiC study now has around 140 patients, and our goal is to get 400 patients enrolled within the next few years.”
It all started when Kenna was a newborn. Two times before she was half a year old, Kenna was hospitalized when she was having trouble breathing. But nothing compared to the scare Kenna’s parents Dan and Jeannine Buhr experienced last January as their daughter was rushed to the ER at their local hospital in Spring Lake, Mich. Kenna was having asthma attack symptoms and was soon transferred to Helen DeVos Children’s Hospital in Grand Rapids.
Luckily for Kenna, residents at DeVos Children’s Hospital had been doing research on Alpha-1 Antitrypsin Deficiency, a rare genetic condition passed on from parents to their children. After several tests, doctors concluded that 8-month-old Kenna had this often undetected condition.
“Alpha-1 is an enzyme that protects the body from attacking healthy lung cells when overcoming an infection,” Jeannine Buhr said. “In Kenna’s case, her Alpha-1 is funny shaped and gets blocked in her liver. This means there is not enough protein going into her blood.”
However, DeVos Children’s Hospital did not have an Alpha-1 specialist, so the Buhrs began to look elsewhere for Kenna’s care.
The Buhrs came across a family support group online while researching this hereditary condition. They read very positive reviews about Dr. Teckman and reached out to him immediately.
“Our first contact with Dr. Teckman was incredible,” Dan Buhr said. “He responded to our e-mail right away and said to call him directly with any questions we might have. Then he called us on his own time before we even came to St. Louis to meet him. We were amazed by that. We are very grateful for his willingness to help us out.”
Kenna and her parents have traveled twice now from their home in Michigan to visit Dr. Teckman at Cardinal Glennon.
In addition, Kenna’s parents are advocates for their daughter and others living with Alpha-1. They are working with Michigan representatives to pass state legislation that would ban smoking in public places.
“One cigarette can kill all the Alpha-1 in a child’s body, and kids like Kenna hardly have any at all in the first place,” Jeannine Buhr said.
Kenna, now 2 years old, seems hardly affected by her doctor’s appointments and asthma medication. She loves singing, coloring and reading books, and she has a very strong support system.
The Buhr family is grateful to Dr. Teckman for the care and guidance he has given their daughter as CLiC research continues.
“We are hopeful that doctors will find a cure for Alpha-1,” Dan Buhr said. “A cure will not only benefit Kenna, but someday her own children.”