If you took the smile on her face and the gleam in her brown eyes alone, you’d never know that 4-year-old Maylee Fitzpatrick has an autoimmune disease called SAVI that is so rare, the number of known cases worldwide could be in the single digits.
You’d never know it either by the way she bounced between her mom and grandma at their home in Butte this week, laughing and giggling and eating up the attention like any other girl her age.
“She has never once let it faze her,” said her mom, Kylah Ball Fitzpatrick. “She can light up any room and is the most amazing child.”
But there are visible signs of Maylee’s disease, including oxygen tubes in her nose and blisters on her palms. Hidden from view are a feeding tube she’s had since she was 13 months old and a medical port.
She didn’t need a wheelchair this day, but there are times she does because arthritis in her ankles and feet and wrists makes it impossible to get around without one. SAVI affects the bones, joints, skin, blood vessels and lungs.
Maylee has spent much of her young life in hospitals and most of the rest homebound, but her most significant medical appointment is coming up early in the new year. That’s when she meets with doctors at the National Institutes of Health in Bethesda, Maryland.
They will include Dr. Raphaela Goldbach-Mansky, who was among physicians and researchers who identified a DNA mutation that causes STING-Associated Vasculopathy with Onset in Infancy, or SAVI. It was only designated as a clinical entity in 2014.
Kylah is having a fundraiser at the McQueen Club this coming Saturday to help pay for the trip and a weeklong visit with Goldbach-Mansky and other doctors renowned for their expertise in autoinflammatory diseases.
There is no cure for SAVI, not yet, anyway, but there is hope for better ways to cope.
“Our main goal is to get her on the right treatment and get her started on the right medicines to slow down its progress,” Kylah said. “We would just like to know how to live with the disease and what we need to do for getting the most normal life she can have.”
Dr. Gregory Schulte, a pediatrician in Butte and Anaconda who has been seeing Maylee this past year, says SAVI affects the pathway of inflammation in a way that causes it to go “haywire.”
“Inflammation is good when it walls off infection or helps the body heal when we get injured,” he said. “It is bad when it happens when it is not supposed to happen.”
There are many diseases in which that occurs, with rheumatoid arthritis probably the most common. But the inflammation with SAVI affects more than joints.
It occurs in blood vessels, causing them to not work properly. That leads to parts of the body being “starved for oxygen” and essentially dying, Schulte said. That can ultimately make amputations necessary.
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Maylee also suffers from Interstitial Lung Disease, which is also associated with SAVI.
“Interstitial just means the space between things, living cells in this case,” Schulte explains. “The disease causes the stuff in the lungs that makes up the structure beyond the cells to stiffen and harden and not work properly, so the lungs don’t inflate well and the oxygen has a harder time getting into her body than it should.”
Maylee wasn’t diagnosed with SAVI until this past May, two days after she turned 4, but she was sick from birth and required oxygen right away, Kylah says.
“She would get sent home because her oxygen levels were OK, then they would put her back on oxygen,” she said. “She was back and forth for a long time but she was really delayed. She would sleep 23 out of 24 hours a day. She was always really tired.”
She had repeated bouts of pneumonia and other complications and made repeated trips to Seattle Children’s Hospital, including a life-flight. She was tested for cystic fibrosis at 4-months-old. It came back negative.
Doctors in Seattle ultimately referred her to Children’s Hospital Colorado just outside of Denver because it had one of the nation’s leading lung specialists. They did a lung biopsy trying to figure out why she needed oxygen all the time, but couldn’t figure it out.
Multiple genetic tests based on her bloodwork didn’t pinpoint anything, but finally, one was done through her saliva. It showed the SAVI mutation.
Because her immune system struggles to compensate for the outside world, she is often quarantined during hospital stays and is homebound in Butte. She can’t go to school or daycare or anywhere else where there are a lot of people.
“She has such a weak immune system, she would get sick pretty quick,” Kylah said.
Maylee requires steroid infusions at a hospital every four weeks and still travels to Denver once every three months for follow-ups and monitoring. Her father was never really involved in her life and still isn’t, and Maylee’s condition and care prevents Kylah from working.
They receive Medicaid and Social Security disability assistance and live with Kylah’s brother, Keaton Ball, at a house he bought in Butte. Kylah also has a 6-year-old daughter, Lakelynn, who is healthy, and Kylah’s other siblings and mother, Melissa Williamson, also help care for Maylee.
Dr. Schulte said Maylee, despite her disease, is one of the most delightful patients he sees. And her mother, he says, is “extremely proactive” in addressing her condition and needs.
The upcoming fundraiser will help pay for Maylee’s trip to Maryland and is set for 4 p.m. Saturday at the McQueen Club at 3250 Hecla Street. There will be raffles, a live auction and a dinner and anyone is welcome to attend.
People can also give through a Facebook page at https://www.facebook.com/donate/996079287391208/