Pennsylvania family fights to help child with rare disease
Pennsylvania family fights to help child with rare disease
By FRANK BODANI, York Daily Record
Oct. 28, 2017
YORK, Pa. (AP) — She dreads those mornings.
Her husband leaves around 7 for his auto technician job. Five of their children wake early to help with the farm chores.
Sometimes, Sean does not get up with them. Eventually, Trish Kisielnicki slowly walks up the oak steps to check on him. Sometimes she almost has to pull herself.
As she moves closer, her heart races from the unknown, almost in panic. Sean is quiet and still.
She watches for him to breathe.
Is he really breathing?
She feels his chest.
He's OK for another day. He may be fine for another year or two or even longer. He could be.
"Some of the boys just die in their sleep. They can be just like he is now, and you go up in their bedroom and they're gone," she said. "There's been several this year. Mom goes up in the morning, and they're dead. . And these are kids who are functioning like him.
"There are times where it just nails me to the floor and it takes a couple of days to get back and keep going."
Sean, the family's second youngest, is 7, and his life is ruled by Hunter syndrome. It's a genetic enzyme deficiency estimated to affect only 400 to 500 people in the United States. Almost all are male.
Even fewer, like Sean, have the most serious form of the disease, which affects both body and mind.
The missing enzyme wrecks the body's ability to break down sugar chains, which collect and clog, stunting growth and leading to organ damage.
Often, these boys gradually deteriorate into their teens, until their lungs, hearts and brains stop.
For now, Sean has stabilized and is even progressing, thanks to enzyme replacement therapies — part at home, part through treks to the University of North Carolina — through IV ports in his chest and his back.
Despite his dire diagnosis, his energy is never ending most days, almost manic at times. His attention flickers from one thing to the next with usually no regard for commands, warnings or even pain. He'll vanish in a moment, even amid a houseful of older brothers and sisters trained to look after him.
But that's only part of the daily struggle on their eight acres in Hopewell Township, near the Mason-Dixon Line.
Hunter syndrome has unleashed an army against him, from autism to attention deficit hyperactivity disorder to sensory processing disorder. Sean has grabbed lit burners and thrown himself into walls or fallen down steps and hasn't felt a thing.
To care for him and stay afloat with six kids, the Kisielnickis say they run the tightest budget. They live on Brian's salary, and in a somewhat isolated lifestyle.
Their kids are home schooled. There is not the means for most organized activities, so they play among themselves and their large brood of cousins. They are strict, traditional Catholics and attend daily Mass when possible.
They work the farm.
And they watch over Sean.
Their reprieves are family getaways in their eight-person Honda Odyssey, often to the river with their boat or to a cabin in the mountains.
They save by eating from their garden and their pigs, goats and chickens. They heat with wood-burning stoves. They gather together in the fall to find free wood to cut, split and stack.
"I wanted my kids to learn where their food came from and that things don't come easy and you have to work for them. Having Sean has really helped with that," said Trish Kisielnicki.
His dutiful family tells his story best. Their lives, each in their own way, are forever altered for the good of one.
For the boy who appears to be slipping away even as he grows stronger.
"That's the hard part," Brian Kisielnick said. "There doesn't feel like there's ever going to be an end.
"On the other hand, you're terrified it's going to end."
BEING A MOM
Trish Kisielnicki always dreamed of living on a farm.
During an afternoon this summer, she looked out over their corn and carrots, fruit and nut trees. She worked in her kitchen and talked about her fears and struggles and the blessings of her unusual life.
She gave up her nursing career to raise her kids in general, and care for Sean, in particular. She tells her husband, "You get to leave every day and be with people. You have another purpose. You have something to say, 'I did this today,' and you can see it.
"Whereas I'm just drowning in everything."
She says that not to complain, only to describe what her days often feel like. Plans rarely stay strict with six kids ages 5 to 15, including the most demanding special needs son. Taking everyone to the dentist is chaotic enough before Sean begins tearing apart the waiting room.
So she leans on her eldest children and her mother and her mother-in-law. Trish is easy to laugh and seems to change direction and focus quickly and without worry. She said three years of counseling with a therapist and her parish priest has helped change her outlook for the better.
She still fights herself, though. She's constantly comparing what her healthy children gain from caring for Sean, like compassion and patience, to what they miss because of it, like the freedom to play sports or join clubs.
She talked openly about her swaying thoughts and feelings, in hopes of helping another family who feels lost.
"The hardest thing about life with Sean, it's lonely, it's very lonely," Trish Kisielnicki said. "Not a lot of people understand this life. Not a lot of people can comprehend what it's like.
"Even with Sean, people see this kid who is running around, making progress, and they forget that he's terminal. ... I guess I feel I walk in a different world than everyone else."
She said her other kids' needs and differing personalities actually give her strength. So does her faith. And Sean's desire to try and help everyone with most everything wins her over time and again.
It balances when he becomes frustrated and unwieldy, often because he doesn't understand why he cannot do what he wants. Then, he'll unleash high-pitch screams and start running.
It may take hours to re-focus and settle him before the next episode. This reminds Trish of not being able to see over the next wave in the ocean, one crashing down upon another, never able to truly catch your breath.
"I think sometimes she gets to the point where she doesn't know what to do," her husband said. "She's hit with so many things she feels paralyzed. You're afraid to leave home or do anything because there finally is a moment of peace, and you don't want to stir the pot."
BEING A DAD
Brian Kisielnicki is the relief pitcher, the one who takes over after the longest of days.
Without so many words, he is a calming, steadying force when he arrives from work.
"He's the one who comes home and pulls me out of the river," Trish Kisielnicki said.
He'll bring dinner, give Sean his bath and put him to bed. On weekends, Brian watches over him while working on their cars, tractor or boat and takes him on a short outings to give everyone else a break.
In turn, Sean has opened up his world and shifted his priorities in the most unexpected ways.
Before Hunter syndrome, most of Brian's spare time was spent on home projects or renovations or running his children to activities.
Now, instead, they stuff the van and head to Raystown Lake or to the Susquehanna River. They took a two-week trip to California as part of the Make-A-Wish program. They did a driving tour of Florida. They never hesitate to go.
"I wish I had done that more. I wish I had done that when Ben and Emma were young, 3, 4, 5, 6 years old," Brian said. "Now, we're not going to waste all our time just working.
"Sean made me realize my kids aren't going to be here forever. They may end up all over the place."
BEING A SISTER
Emma is 13 and talks politely and yet proudly of being a second mom at times.
Her relationship with Sean is the most developed of her siblings.
She changes his diapers when needed because he probably will never be potty-trained. She watches over him with more of a disciplinarian role than the others.
And when things get hectic around the house, or when her mom drives Sean to North Carolina for his infusions, Emma will prepare lunch and even dinner for the family.
"He's my favorite brother out of all of them, probably," she said with a smile. "Because he's so sweet and innocent, my buddy sort of thing.
"He tries to help, and I can tell he's really, really trying to help. Sometimes it isn't really any help, but I see that he's trying and it means something."
She wrote this in a letter to her pen pal last spring:
It is hard to think I may only have a few years left with him. He is my little brother "Lou" and I am his "Emmy." I do not want to lose him!! It is really something that I cannot control but I pray would change. Even though it makes me cry every time I think about it, I have thought about what life would be like without him. It would be boring and lonely! Even though I have my friends, parents and other siblings it would just not be the same.
She talks candidly about the responsibilities most of her friends don't know. She's come to understand all of their frustration when Sean screams for hours on end in the car or breaks loose like a small bull barreling through a store.
She believes this will make her a better mother one day.
"I'm more patient with things and know how to control a situation rather than just freaking out over it. Yeah, I get angry. Sometimes you wish he would stop and just be normal. But then you realize what it would mean if he was normal. How different everything would be ."
Younger sister Clara, 11, is all smiles and giggles and helps Sean feed her bunnies and do tricks on the trampoline. She is quiet and keeps to herself, drawing and doing crafts in her room.
"And then Sean comes in and spills the paint," Emma said.
The girls quickly laughed about it.
They talked about how the good of doing most everything together outweighs whatever they may miss.
"Families who do (their own) things, they're not really a family," Emma said. "Our family is always together because of Sean, he's like our connecting point. I think it's a good thing."
BEING A BROTHER
Ben wants to join the military, probably the Coast Guard, in a couple of years.
The laid-back, lanky teenager sees that as perfect training for becoming a police officer.
He is the oldest child. He truly is the big brother and Sean's idol, in a way.
He gives Sean four-wheeler rides, making him shriek when he snaps the throttle and revs the engine. Ben teaches him to fish with a toy rod and takes him to feed the pigs.
When Sean breaks loose and is headed toward possible danger, Ben is usually the first to get the alarm call.
His patience has become legendary in the family.
"I look at Ben and he's 15 and he still plays like a kid, and I love that," his father said. "I love that he can go outside and play with his little cousins for two or three hours.
He crashes through most days with a loud, well-intentioned recklessness.
His drastic swings in mood and health, like thunderstorm clouds rolling in from nowhere, still put everyone on edge.
Just a touch of the flu will rocket his fever to 104 degrees and rush him to Hershey Medical Center.
Before the enzyme therapy, his muscles and tendons were so stiff he could barely turn his neck and was constantly hunched over, legs bent like a linebacker ready to make a tackle.
The IV therapies have helped correct those things and have softened his features. He's gone from being afraid of anyone outside his immediate family to wanting to meet and touch most everyone he sees.
He's even learned balance and coordination through ice hockey with the York Polar Bears, a beginner's team for disabled youth. He also goes to Leg Up Farm twice a week for physical and occupational therapy.
He is a 90-mph ride of emotions and behaviors. From one day to the next, he swerves from exhausting his family with his meltdowns to inspiring them with his kindness and resiliency.
Mostly, it seems, he teaches.
From patience to perspective to prioritizing life moments. Bending constantly, they say, makes them stronger in the end.
They try to see Sean as their greatest gift beyond the challenge.
"He's our ticket to heaven," said Karen Shriner, Brian's mother. "If we can be patient with him, if we can love him ..."
Everyone, she reasoned, can be better for it.
Information from: York Daily Record, http://www.ydr.com