HER Fam­ily

Church, fam­ily help Abby sur­vive

The Sentinel-Record - HER - Hot Springs - - Contents - Story by Lind­sey Wells, pho­tog­ra­phy submitted and by Mara Kuhn

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.

mcKen­zie Fam­ily

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