Community helps student with rare genetic disorder

Ball State University student Kelsey Koch and her sister Karly are two of 11 people in the world with documented cases of a rare genetic immunodeficiency disorder.

The disease, combined immunodeficiency associated with DOCK8 mutations, has symptoms including chronic sinus and ear infections, bronchitis, pneumonia and skin infections. The cause of the disorder was discovered during the summer, according to The New England Journal of Medicine.

The gene mutation can be treated or cured through blood stem cell donations, but the sisters have yet to find a match.

Union Chapel Ministries and Commonway hosted a "Be the Match" bone marrow donation Sunday to help the Koch family. More than 800 people were tested at the stem cell drive, which was aimed at finding bone marrow matches for the sisters.

Kelsey and Karly are also patients at the National Institute of Health in Baltimore, where the family is continuing the search for compatible donors, Sharyll Martin from the Union Chapel said.

At Sunday's event, donors' cheeks were swabbed with a cotton stick to test their bone marrow for a positive match.

"If I could do something as simple as swabbing my cheeks to save someone's life, I feel I should do that," Stacey Gardiner said.

About 50 volunteers from the congregation worked at the event, some of whom were registered nurses.

"The nurses are there mainly to answer donors' questions about bone marrow donations," said Martin.

Kelsey, a 21-year-old psychology major, has been invited by professors to talk to students at Ball State about DOCK8 and the sisters' need for a donor, while challenging students to spread the word and urging people to help out. She was at Union Chapel Sunday to show her support for the fundraising event. Karly, who is 15 years old, is in the advanced stages of the disease and was not able to attend the drive, according to her online blog.

"It went amazing [Sunday]," Kelsey said. "We had such a great turnout."

The drive set a goal to raise $10,000 and had an end total of more than $25,000. The money will be used to pay for the 859 test kits to be analyzed at the National Institute of Health.

"[Sunday] exceeded our expectations tremendously," Christy Bilby, a friend of the family, said. "It means that we now have over 850 potential matches for the girls."

Bilby said the swabs will be sent to Maryland within the next week. The family will know if there was a positive match four to six weeks after that, she said.

  • Follow Kelsey Koch's online blog at kjkdancingthroughtherain.blogspot.com

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