Photo by Jenny Kirk Kaylee Juutilainen is a smart, caring and brave 7-year-old who battles with the effects of a rare disease every day.

MARSHALL — Young Kaylee and Evelyn Juutilainen have a lot in common. They both scrunch up their nose when they smile, enjoy playing on the family’s iPad and like drinking ice tea. Both also have a rare disease called cystinosis — they’re two of about 2,000 people worldwide to have it.

“I have cystinosis and the baby does, too,” 7-year-old Kaylee said. “Sometimes it’s hard having cystinosis. You have to take a lot of medicine.”

Cystinosis is a rare genetic metabolic disease that causes an amino acid called cystine to accumulate in various organs of the body.

“(Kaylee and Evelyn) are 2 in about 2,000 worldwide, 2 in about 500 in the U.S. and 2 of about 7 in Minnesota,” mom Dai Juutilainen said.

Today marks the first-ever Cystinosis Awareness Day — something Kaylee is very much aware of and ready to celebrate.

“Kaylee is making a pamphlet to give to the kids in her class and she’s going to tell them about it, too,” Juutilainen said.

According to the Cystinosis Research Network, cystine crystals accumulate in a person’s kidneys, eyes, liver, muscles, pancreas, brain and white blood cells.

“Cystinosis kids have crystals in their eyes so it makes it hard to go outside when it’s really sunny out because it hurts their eyes,” Kaylee said. “I have glasses and my glasses turn dark in the sunlight. Cystinosis kids also really like salt because it helps them in a way.”

Without specific treatment, children with cystinosis develop end stage kidney failure around 9 years old, according to the CRN. So Marshall residents Dai and Ryan Juutilainen spend an enormous amount of time giving life-saving medicines to their daughters.

“Every 12 hours, Kaylee takes Procysbi to lower the cystine levels, growth hormone shots to help grow, Cystran eye drops to help dissolve the cystine crystals in her cornea — that’s up to 6 times a day — and then meds to help with iron, vitamin D and other electrolyte levels,” Dai Juutilainen said. “Some are once daily and others are multiple times a day.”

Currently, Kaylee takes 9 medications daily.

“The medications can cause nausea and vomiting,” Dai Juutilainen said. “The primary medication can also cause appetite suppression. When you add growth issues to the electrolyte issues, the girls have trouble staying on the growth charts.”

While some of the drugs can be harsh on the little girls’ bodies, a fairly-new extended release medicine is helping alleviate some of the challenges.

“Both girls tire out quite easily, but at least now they have extended release medication,” Dai Juutilainen said. “When Kaylee was originally diagnosed, her cystine medication was every 6 hours, so we had to wake her up and she was continually tired until the new medication came out.”

Juutilainen said Evelyn, who will be 2 years old in June, is the youngest person to take the extended release medication. Since the dose comes in little micro capsules, there were still some challenges.

“With Kaylee, we’d mix it with applesauce and give it to her,” Juutilainen said. “But Evie wasn’t eating food yet, so I had to figure out how to mix it in something that was thick enough that I could give it to her in the syringe and not have it stick in the syringe, but not so thick that she would gag. I ended up mixing it with baby food, but sometimes we’d give it to her and think she swallowed it, but she hadn’t.”

Ryan Juutilainen said “both have feeding tubes in their stomach,” so nutrients or medicine can be given that way if necessary.

“It’s to get medicine through our tube when a special day comes up and we might not be able to take our medicine,” Kaylee said.

Kaylee was diagnosed with cystinosis at 16 months old. She spent Christmas 2011 in a Twin Cities hospital. She was also in the hospital for her third and fifth birthdays.

“Some of the things — both good and bad — that seem small for other kids are a big deal for them,” Dai Juutilainen said. “We have to be careful when they are sick as they can go from OK to being admitted to the hospital within a few hours. They drink gallons of water every day, and when they are sick or during the summer, they do not show signs of dehydration until they are to the point of requiring IVs to get them rehydrated.”

Evelyn was diagnosed between 7-8 weeks old.

“Since Kaylee had it, they tested Evelyn early,” Juutilainen said. “The earliest signs of cystinosis are usually failure to thrive, electrolytes being off and drinking a lot of water.”

Kaylee and Evie don’t go anywhere without having something to drink with them.

“The cystinosis causes a type of kidney damage called Renal Fanconi’s Syndrome,” Juutilainen said. “Basically, the tubes in the kidneys are damaged by the cystine crystals and then don’t filter the fluids — it just runs right through. A normal kidney is like a bucket that fills up and then empties out in a cycle, whereas with the girls, their bucket is full of holes and is impossible to fill up.”

That means the sisters drink insane amounts of fluids a day, just to stay hydrated.

“They drink quite a bit because the kidneys flush out a lot of the fluids,” Ryan Juutilainen said. “They’re thirsty a lot.”

Dai Juutilainen said that when Evelyn was in the hospital in January, the goal for her just to stay hydrated was close to 3 gallons.

“That’s a lot for an 18-month- old just to maintain her 16-17 pound weight,” she said. “That also means they go to the bathroom a lot. Evelyn can soak through a diaper in one pee.”

Craving salt and having extreme thirst are common for individuals with cystinosis.

“Me and Evie really like to drink tea,” Kaylee said. “We got through about 10 packets a day between Evelyn and me. Also, my favorite food is bacon.”

Juutilainen said Kaylee would eat an entire package of bacon if you’d let her.

“If you take her bacon, be prepared to lose a hand,” Juutilainen said. “And (Kaylee and Evie) are the kind of kids that go into a restaurant, pick up the salt shaker and try to drink it. They crave salt. There are some with cystinosis that take salt supplements because their sodium is low.”

While she’s only 7, Kaylee knows a great deal about her condition. She also remembers a lot of the details from hospital visits.

“Evie has been in the hospital four times,” Kaylee said. “The first time was when she got a fever. They have a playroom for younger kids to go in and play, and me and (my sister) Tracy would go there a lot. I really liked the little red wagon. It was my favorite thing.”

Kaylee actually liked sleeping in a little red wagon during one of her three hospital stays.

“I did not like sleeping in anything else,” she said.

While they do not have cystinosis, Kaylee’s and Evie’s sisters, Rhyana, 18, Holly, 15, and Tracy, 6, know a lot about the rare disease and its complications.

“Kaylee and Evie have different cystinosis,” Tracy said.

Dai Juutilainen explained that Kaylee’s biggest issue is her potassium level dropping, while Evelyn’s is her calcium level.

“Evelyn is healthy now, but in the last year, she was hospitalized for tetany, which is low calcium that causes muscles to cramp,” she said. “That was in April 2017 for about three weeks, but then ended up back in the hospital 48 hours later for another two weeks.”

Juutilainen said Evelyn takes the same medications as Kaylee, plus a few more.

“Many of the medicines interact with one another, so she gets meds every hour,” Juutilainen said. “And with the tetany, if you don’t catch it quick enough, it can affect her heart.”

According to their parents, Rhyana, Holly and Tracy also offer a lot of support, as do extended family members.

“I am super thankful to their big sisters who watch them so we can work,” Dai Juutilainen said. “I oftentimes feel bad when we have to say no when they want to do something because we don’t have the money. There are times when it seems like we are just about caught up and getting on track, then one ends up in the hospital and we take 2-20 steps backwards.”

Fortunately, there are family members who live in the cities near the University of Minnesota Masonic Children’s Hospital, but there are still challenges.

“I’m grateful for extended family, but it still means I am away from home and work, which in return affects their dad and big sisters in that they have to adjust schedules to make sure someone is home, too,” Dai Juutilainen said.

Both girls also go to physical, speech and occupational therapy every week. There’s also making sure staff at Park Side Elementary, where Kaylee is a first-grader, are in the loop.

“The schools have been quite supportive with Kaylee,” Juutilainen said. “The nurses have gotten to know her and her little quirks. They make sure she gets her medication and a nap if she needs it. They have learned enough that they don’t let her get away with things and also when to call me because she is ‘off’ her normal.”

In many ways, Kaylee is like other children her age. She loves to laugh. Her favorite animals are puppies. And she is losing some of her teeth.

Kaylee also wants people to know that having cystinosis makes her and Evie special.

“Sometimes I can’t run as fast because sometimes my leg hurts,” Kaylee said. “Then I go slower.”

In the past year, the family has taken part in two cystinosis-focused events.

“We went to a cystinosis convention in Seattle and Utah,” Kaylee said. “So two times, we made a Cystinosis Cyd. Cystinosis Cyd tells you some facts about cystinosis kids.”

Juutilainen said a town hall meeting in Seattle was presented by Horizon Pharmaceutical, which makes the Procysbi medication.

“We got to hang out with other families and Kaylee got to meet some other kids with cystinosis,” she said. “We had some meeting time to compare notes on daily life and challenges, discuss issues with meds and find solutions as well as meet some doctors and social workers who gave information on ongoing studies, kidney camps for kids and types of assistance that may be available.”

In Utah at an annual convention, there were various specialists, patients, parents and drug representatives.

“There was time to chat with anyone and everyone,” Juutilainen said. “They talked about cystinosis — the medications and new things on the horizon. The little girls got to play, design shirts and pillowcases, and make birds that were part of an art installation. Kaylee also got to see other kids do what she does every day — take medications and usually without hysterics.”

Cystinosis is called a recessive genetic disease because parents do not exhibit symptoms, but each of them carries a recessive gene which may cause cystinosis in their children — a 1 in 4 chance, according to the CRN. Every healthy sibling of a child with cystinosis also has a 2 in 3 chance of being a carrier.

“Most carriers have no idea that they have it until they have a child with it,” Juutilainen said. “And there is currently no cure for cystinosis, but through some of the gene studies, there is hope that there could be in the future.”