She can't walk, speak or eat. She has trouble breathing and can't get a full night's sleep.
But the most disconcerting part for the parents of 3-year-old Kaydence "Kady" Giurado of Bradford is that doctors don't really know what is wrong with her.
"They say they've never seen anyone like her," said her mother, Jill Giurado.
Her mother's pregnancy was completely normal, but it was clear was wrong as soon Kady was born.
"She was like a wooden doll," said her father, Eric Giurado. "She was stiff as a board."
She was taken by ambulance from Anna Jacques Hospital in Newburyport to Children's Hospital in Boston. She was there for two months as doctors ran numerous tests.
"They ran brain scans, MRIs, spinal taps, everything that they could think of," said Jill Giurado. "Each test either came up normal or negative."
Kady's voluntary muscles were affected, from her throat down to her feet. Her arms couldn't straighten, which caused a severe curving of her spine and a hump in her lower back. Her spine pressed on her internal organs, compromising her lungs and mad it impossible to swallow food or liquids. Doctors settled on a working diagnosis of hyperekplexia, a condition whose symptoms include a generalized stiffness. But the diagnosis has its flaws.
"Nine out of 10 times, (patients diagnosed with hyperekplexia) are missing a common gene," said Eric Giurado. "She has that gene. There's a startle effect that patients who suffer from that have; she doesn't have that. The only common link she has to that is her stiffness."
Kady's condition is being monitored by neurological, orthopedic, gastrointestinal and renal teams at Children's Hospital, as doctors continue to work toward a definitive diagnosis. Her parents say that Kady has been to more than 230 appointments in Boston alone.
"We brought her to Massachusetts General Hospital, and they didn't know," said Jill Giurado. "Now we're looking at alternative options."
The family brought Kady to an acupuncturist in Newburyport for infrared laser acupuncture. In the last month, they've traveled to Kittery, Maine, to see a neuro-muscular specialist who is trying an unusual method. Doctors believe Kady's muscles have become stuck in their current state, so Dr. Timothy Kingsbury is attempting to "reset" the muscles to their original state.
"The way the doctor explained it to us was that it was like a computer that freezes," said Eric Giurado. "When you turn it back on, how does it know how to reset itself? He is trying to get Kady to reset."
Shuttling Kady from doctor to doctor has changed the dynamics of the Giurado family. Jill had to quit her job as a nurse when Kady to be at home full time with Kady. Eric, a postal worker, picked up two cleaning jobs during the evenings to help pick up the financial slack.
"It's definitely a different world now," said Jill Giurado. "It's heartbreaking when something is wrong with your kid."
Nights are also extremely challenging for the Giurados. Kady wakes up as many as seven times, and each time one of her parents must get up to reposition her.
It's been tough for the Giurados' son Nicolas, 8, as well.
"We teach him that no matter what that we're together as a family," said Jill Giurado. "We teach him to see Kady for what she is, not what she isn't. Kady loves Nicolas; he makes her laugh all the time."
But there are limits to what the Giurados can do as a family. Kady doesn't adapt well to certain activities and needs special attention, leaving less time for Nicolas.
Fortunately, the family has a group of "angels" who have been constantly willing to help.
"These women have been angels from above," said Jill Giurado. "They have been by our side since day one. Not only with love, support and prayers, but they try so hard to help us."
The "angels" are seven of Jill's closest friends, who formed a committee when Kady was born to provide both emotional and financial support for the family. They come over to help the family with basic chores and babysitting and also doing activities with Nicolas.
"We love them and they're a great family," said Kandy Pardales, a longtime friend of the family and member of the committee. "They are two great people and Kady is an angel. We know how tough it is for them since Jill quit her job and they are living on one income. We just want to do everything we can in our power to help them."
"They never ask us if they can do things," said Eric Giurado. "They just go ahead and do it."
Their friends have organized a fundraiser, the Kaydence Giurado Golf Classic,, May 19, at Bradford Country Club.
The group has lined up several corporate sponsors, as well as individual sponsors for each hole. All proceeds go toward the continuing care of Kady. "A lot of their financial support helps us stay in our house," said Eric Giurado. "We bought our house on two incomes. Who knows where we would be if they didn't help us?"
The Giurados applied to the state for private nursing help but were told Kady doesn't qualify. They plan to reapply.
Last year, the Giurados thought they might lose Kady. She came down with a respiratory virus and double pneumonia and had to be hospitalized for a week. She has also been hospitalized twice with fevers but each time was able to pull through.
Although Kady has multiple physical problems, her cognitive skills are strong. She enjoys watching television and videos and playing with toys.
Kady attend preschool at the Moody School in Haverhill four mornings a week for speech, physical and occupational therapy as well as regular preschool activities. Kady also visits Northeast Rehab for outpatient therapy focusing on stretching.
The Giurados don't know what Kady's future holds. There has been talk about surgery to place rods in her back but she would need surgery every six months to change the rods as she grows. Without the surgery, her lungs won't develop fully, which could reduce her life expectancy.
"I'm happy in a lot of ways that she has made it to this point," said Jill. "She is better, but it is still sad not knowing how she will end up."
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HOW TO HELP
What: First Annual Kaydence Giurado Golf Classic
Where: Bradford Country Club
When: Saturday, May 19
How: To register or to receive sponsorship information, contact Joelly Helps at kadygiurado@gmail.com or visit http://www.facebook.com/kady0801
