Church, family help Abby survive
Colds, flu and germs are a fact of life for most kids. They visit the doctor, take the appropriate medication, and within a day or two they're back on their feet. That wasn't the case for 11-year-old Abby McKenzie, who was diagnosed with a genetic disorder called Activated PI3K-delta syndrome, or PIK3R1.
Every human body has a built-in immune system with different parts that work together to protect it from diseases and germs. Every day, our bodies are exposed to millions of germs. When we get sick because of a germ, our immune system works to get rid of it, and then it remembers how to fight the infection if our body is exposed to that same germ again.
“The best way I can explain it is, Abby's body does not make antibodies so she has no little army men to help fight anything,” Abby's mother, Michelle McKenzie, said. “Her body doesn't make antibodies to viruses and stuff. When you get sick with the flu or pneumonia, your body makes memory cells so that the next time you get it, your body says, `This is what I need to do to fix myself.' Abby's body doesn't do that. It goes, `Oh, I don't know what to do,' and it kind of goes crazy.”
Abby was born with this genetic mutation but it wasn't until a year ago that she was diagnosed.
“She had been sick for 10 years and she was getting worse and worse. Last March she was so bad she was in a wheelchair and on oxygen all the time because she has a lot of lung problems,” Michelle said, adding that Abby's worsening health prompted the doctors to suggest genetic testing.
Abby underwent 30 surgeries in 10 years before the correct diagnosis was given. She has been hospitalized six times in the past year and a half alone.
Michelle said this specific genetic mutation had just been discovered in December 2014 and, coincidentally, after Abby was diagnosed, the family found out their immunologist had just attended a conference to learn about this mutation.
“It was the weirdest thing. Ten years ago they would have been like, `We don't know what this is, we don't know what it means,'” Michelle said.
The immunologist learned at the conference that there are two types of this particular illness: PI3K and PI3KR1, which is the one Abby has.
Currently, there are only 100 patients worldwide with PI3K, and only 36 patients worldwide with PI3KR1. Only seven of those with PI3KR1 have been seen at the National Institutes of Health in Maryland, which is where Abby is now being treated.
The McKenzie family makes the trip to Maryland every couple of months, staying for a week at a time, for Abby's treatments.
“When we found out what she had, they immediately contacted (NIHM) because that was the only place that had seen it,” Michelle said.
She added that with this particular disorder, “you aren't just watching or treating one thing.” The mutation has caused her to have chronic lung disease, asthma, hearing loss, an enlarged spleen and liver, high liver enzymes, and low pulmonary function, among others.
“It's not just one specific diagnosis — it's one specific diagnosis with like a domino effect of all this other stuff, and cancer is also a big part of it. We've had several cancer scares but thank the Lord we have not had that happen so far,” Michelle said. “So basically, when we're in Maryland, what we do there is a lot of blood work, we see a whole lot of doctors, and those doctors help our doctors here to manage her and take care of her.”
In addition to her doctors in Maryland, Abby sees her doctors at Arkansas Children's Hospital every few weeks.
Michelle said that not enough is known about the disorder to know what causes it or what the life expectancy is for someone who carries the mutation. She and her husband both tested negative for it. The couple also has two other children, Analise, 13, and Amos, 3, who are both “perfectly healthy,” Michelle said.
“Abby is a very happy child. You honestly would never know that she was sick because she stays so happy and positive and upbeat. But she has her moments, and she's had more breakdowns recently, within the past six months, and I think that's just because of her age and because things have gotten so dire,” Michelle said. “She doesn't understand, `If God knows everything then why did He let me be alive? Why did He let me be born and then be in pain every day?' And these questions, I can't answer. I don't know why.”
Michelle said the family's huge support team, church and family are what keeps them going.
“We're very involved in our church; Abby's been raised there. Everybody there, they have done fundraisers for us, they helped out with our other two children; they're our family and they're in this with us. Then of course we have our family. I have two sisters and brothers-inlaw and my parents, and BJ has his parents. And our faith. I'm not saying that it's easy and that believing in God is going to make everything better but it sure helps. I have to know that for a reason she's having to endure this, whether I ever find out or not,” she said.
Championship Wrestling of Arkansas put on a fundraising event for Abby called Abbymania on Sept. 16 at the Hot Springs Convention Center. The organization hosts wrestling matches around the state to benefit families in need, and Abbymania was their third-ever fundraiser.
“Basically, it's wrestlers that are local that love what they do and they decided `we want to put on these shows and we want it to benefit people from Arkansas,'” Michelle said.
All funds raised from the event will go toward Abby's medical expenses.
Abby during a stay at Arkansas Children’s Hospital in Little rock.