Strong Kids

Family's Battle with Autoimmune Disease Strengthens Family Bond

Sep. 21, 2016

Hunter1Nine-year-old Hunter Lee’s story doesn’t start at his birth; rather, it starts at his cousin Lars Troutman’s diagnosis with X-linked agammaglobulinemia (XLA), a rare X-linked genetic disorder that affects the body’s ability to fight infection. Lars and Hunter never met, but Hunter owes much of his health today to Lars.

Lars was brought into a Tennessee emergency room in 2004 at 14-months-old with cold-like symptoms. His mother, Dawn, didn’t know what was wrong with him, but she knew her typically bubbly son was not himself. After running tests, providers determined Lars had been suffering from XLA and that he did not have enough mature B cells to fight any infection. By the time he was seen by doctors, Lars’ disorder had spread too far throughout his little body, and he ultimately succumbed to XLA shortly thereafter. While he may have only been around for two short years, the impact he made on his family continues to be felt today.  

In this case, Lars’ diagnosis allowed everyone in his family to be tested for XLA, a silver lining to the little ones death. Kelly Murphy, Lars’s aunt, knew prior to being pregnant with her son, Hunter, that she was a carrier of XLA thanks to undergoing genetic testing after Lars’s diagnosis. Those results showed that any child she had would have at least a 50 percent chance of having the autoimmune disease. After getting genetic testing done while Hunter was in utero, it was known that he would have XLA.  

KellyHunterKelly gave birth to Hunter in 2007 and he’s been getting treatment of his XLA at UR Medicine’s Golisano Children’s Hospital since he was two months old. Hunter receives monthly transfusions of immunoglobulins to help him fend away any diseases that may come his way. The treatment is life-long and restores some of his missing antibodies.
“Just from looking at Hunter, you’d never be able to tell what he goes through,” said Kelly. “He plays sports with his friends and looks like a typical nine-year-old.”

Live viral vaccines, such as those for polio, measles, mumps or rubella, are not considered safe for people with XLA. Though rare, these vaccines can infest the recipient with the very disease they were intended to prevent. Hunter’s immunoglobulin therapy may prevent long-term complications that come along with XLA.

So every month, Hunter and his mom trek in from Palmyra for his six hour transfusion. It’s not all bad, though. He looks forward to seeing a care team at Golisano Children’s Hospital that has been providing his care for as long as he can remember.

HunterJanet Krolczyk, R.N., has been overseeing Hunter’s care for more than eight years. She’s watched Hunter grow up and is proud of how far he has come since she began seeing him.

“When Hunter comes in, he is sure to check in with all the staff to say hello and goodbye,” said Janet. “He always wears a smile on his face and brightens up my day.”

While Hunter isn’t necessarily “cured” and his story is not yet over, the life he is able to enjoy every day is inspiring to all of those who he meets.

“I get a little choked up talking about how proud I am of Hunter,” said Kelly. “Whenever I think that I have had a bad day, I remind myself what Hunter goes through.”