Edwards family copes with ‘kookie’ chromosomes
Edwards, CO Colorado
EDWARDS, Colorado ” The Chase family, of Edwards, Colorado, always tries to see the funny side despite having two children with the only known cases of a chromosome disorder.
“We call the chromosome disorder ‘kookie.’ As with everything, we have to have a sense of humor,” said mother Nikki Chase, creative director of The Golden Bear in Vail.
Nikki’s two children also have nicknames. Skyler, 5, is called “Bootsie,” and Sandler, 1, is called “Little Blue.” Both kids have a disorder called unbalanced translocation of chromosomes 2 and 8.
Both children are frail and prone to frostbite, and have chronic ear infections and low muscle tone. They are delayed in fine and gross motor skills ” small movements such as picking things up with their hands and the bigger movements such as running and jumping.
They both have Raynauds phenomena, a circulatory system disease related to lupus, that can cause fingers and toes to turn white and tingle when exposed to temperature changes. They are youngest sufferers of this disease who have been treated at the children’s hospital in Denver
Skyler was unable to hear for the first two years of her life because of ear infections. Her hearing problems left her two years behind in speech and listening development.
Sandler has never spoken a word and is learning how to eat for the first time.
There are no other people with this exact condition, said Dr. Ellen Elias, who started seeing Nikki when she was pregnant with her son.
Skyler and Sandler will have health problems their whole lives. Sandler, who has had a lot more health problems, has had five surgeries and weighs only 14 pounds.
The Chase family, who now call Singletree home, have lived in the Vail Valley for 12 years. Nikki met her husband, Jeremy, while both were studying at Boulder. She studied communications and he business. They want to stay in the valley, but have been advised by their doctor they might have to move to be closer to the hospital in Denver.
The children won’t let people know if they’re cold or hurt because although they’re prone to frostbite, they also have a high tolerance for pain.
“They can’t get out in the snow a lot,” Nikki said.
The Chases have gotten a lot of support from the community.
“The valley community has been amazing, very supportive,” Nikki said.
A benefit, organized by Nikki’s co-workers at the Golden Bear, was held Sept. 30. The event was a huge success, with about 100 people attending, including Skyler’s school bus driver. Jeremy Chase performed as DJ Blue Boots.
Nikki praises the help her family has received in the community such as June Creek Elementary School that Skyler attends, and the children’s physical therapists. The children’s hospital in Denver also has amazing therapists, and the children have benefited from local pediatrician Dr. Marita Bledsoe, who is now in Brighton, and Dr. Casey Strahan, an ear, nose and throat specialist.
“We see him (Dr. Strahan) on a weekly basis in winter, monthly in summer. He has been phenomenal, he has performed surgery on both the kids ears, allowing them to hear,” Nikki said.
Nikki is a strong supporter of Amendment 51, which would increase Colorado state sales tax to pay for services for people with disabilities and to help eliminate waiting list for services.
“This is close to my heart as the waitlist for special needs people is years and years long,” Nikki said.
The couple both work full-time and use all their vacation and sick time to go to the hospital for surgeries and to see various specialists.
“We are learning, kids are medical mysteries,” Nikki said.
Nikki said she tries to keep a positive attitude and said the book, “Welcome to Holland,” by Emily Perl Kingsley, was an inspiring read that helped her.
“It is an amazing story I found at the geneticist’s office, an incredible, motivating story for parents with children learning how to cope with disability,” she said.
The Chases hope Skyler will join the Small Champions Organization, which teaches kids skiing. They also want her to continue horseback riding therapy in Breckenridge, which has been a good outlet for her to have fun and build confidence. Insurance does not cover either program.
Nikki hopes Sandler will learn to talk soon. The Chases call Sandler ‘Mini Woody Allen’ because he has optical nerve hypoplaysia that makes him extremely nearsighted, so he wears glasses. He has had five surgeries, which have ranged in cost from $25 to $40,000 ,and he needs another operation to have a feeding tube installed to help him grow.
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