Trip to Disney World brings smile to Farmington baby with rare genetic disorder

By Ann Bryant, Sun Journal
Posted Dec. 28, 2012, at 6:30 a.m.

FARMINGTON, Maine — Sixteen-month-old Addilyn Davis met her favorite character, Mickey Mouse, at Walt Disney World Resort in May. Donald Duck joined them, too.

“She screamed if I turned her away from him [Mickey],” Jamie Davis, Addilyn’s mother, said recently. “She cooed and tried to give him kisses.”

The trip to Florida was made while Addilyn still had her sight and could feed from a bottle. The Mickey Mouse Clubhouse characters put a smile on her face, in spite of her pain, according to her family.

Eighteen family members, including Addilyn’s parents, Jamie and Kyle Davis of New Sharon, went with her.

“My family wanted to be there,” Jamie said, voicing her gratitude. “It meant so much that our community came together for our baby girl, Kyle and I. There was nothing that could compare to watching her meet Mickey.”

Family and friends sought community help by hosting a dinner and dance in March. The funds raised supported the trip.

Born Aug. 3, 2011, Addilyn was diagnosed in February with Krabbe disease, a genetic disorder of the central nervous system. She faces a shortened life, because there is no cure or treatment for the disease.

“The day our lives changed forever,” Davis said of the February diagnosis.

Addilyn turned 16 months old on Dec. 23. Last June, she lost her sight. She is fed by a tube to her stomach and weighs 14 pounds, 6 ounces, barely double her birth weight of six pounds.

“It’s been a roller coaster ride with body temperatures up and down, pneumonia and constant care, but it’s all worth it,” Jamie said. “We’re thankful for today. We would never have known what true happiness is.”

Addilyn was born stiff and rigid with fists doubled up, Jamie said. They now know it was from pain. Jamie knew something was wrong. An appointment with a neurologist brought the fateful diagnosis.

Krabbe disease affects one out of every 100,000 people in the United States. It was named after the doctor who discovered it in the early 1900s.

Doctors have told her the pain is similar to when a limb falls asleep, there is tingling and pain as it wakes up, she said. Addilyn’s body feels it all over, and her feet and legs are particularly sensitive, she said. Other symptoms include vision and hearing loss, feeding difficulties, failure to thrive, irritability and fevers.

Both parents must carry the faulty gene for the child to inherit the disease. One in every 125 people carry the gene, but there is no testing for it at birth — something that Jamie would like to see changed.

Stem cell replacement can provide a potential for living longer, or at least enhance the quality of life, she said. The replacement must be done within the first three months, and it is most effective if performed in the first two weeks.

Addilyn was diagnosed at six months of age, which was too late.

“If we had known earlier, our daughter could be up and walking and talking now,” she said.

Jamie is devoted to raising awareness of the disease. Family members have passed out brochures at local parades. A walk in Addilyn’s honor is being planned for early 2013.

She writes about their experience on Facebook under “Addilyn’s Journey of Hope.”

Davis also wants to see genetic testing for the disease at birth. New York is the only state that automatically tests for it now, she said.

Genetic testing can inform a person of their carrier status.

After family members contacted local legislators, state Rep. Lance Harvell, R-Farmington, submitted a bill for this legislative term.

Harvell said he’s still researching the implications of mandatory testing and costs, but will soon write the bill.

Jamie and Kyle want more children so Addilyn can have siblings.

“We’re not sure how, but I have a lot of faith in the Lord,” she said.

 

http://bangordailynews.com/2012/12/28/news/lewiston-auburn/trip-to-disney-world-brings-smile-to-farmington-baby-with-rare-genetic-disorder/ printed on September 19, 2014