BURLINGTON, Mass. - Imagine waking up in the middle of the night to hear your child screaming for help and the words, "I can't move my head."
That's exactly what happened to one Lexington family this year. After visits to doctors to figure out what was wrong with their child, they learned their son has a rare disease called Juvenile Myositis.
The Ryan family is now on a mission to save their son and find a cure.
Juvenile Myositis (JM) is so rare that only one in 500,000 children is diagnosed with the disease every year. JM is a life-threatening auto-immune disease where the body's immune system attacks its own cells and tissues. It also affects girls twice as often as boys.
The Ryan family had never heard of it and now they now part of that 25 percent group where the disease strikes kids 4 years old and younger.
“He's a super friendly, active little guy,” Liz Ryan said, describing her son Liam.
Over the weekend, Liam celebrated his 5th birthday surrounded by his friends and family. But getting to this day has been anything but a celebration. For the past 8 months, Liam has been in a battle with his own body to survive.
“In January, we noticed a rash that appeared on his face; kind of like a butterfly rash and some dots on his knuckles that kind of look like warts,” Luke Ryan, Liam's father and a senior account executive at Boston 25 News, said.
That rash quickly appeared on other parts of Liam's body, including his elbows. After a trip to a dermatologist, the Ryan's got another red flag.
“The changes were very monumental,” Liz said.
Liam was starting to withdraw from home and even school activities.
“He was just sitting out of physical activities and he would ask to be carried regularly so we really didn't know what that was,” Luke explained.
The Ryans were puzzled. In December, they say Liam's check-ups were all clear. Then one night in March, Luke says they got another sign something was terribly wrong.
“He woke me up five times in the middle of the night to say, ‘Daddy can you please move my head.’ He wasn't physically able to move his own head up because his neck had atrophied,” Luke said.
The Ryans rushed Liam to the hospital to get checked out. After a third visit with his pediatrician, they learned Liam's symptoms mirrored a very rare disease -- Juvenile Myositis or JM.
“It’s astonishing because we don't have anything in our family history,” said Liz.
Pediatric Rheumatologist Doctor Julia Zhang says some kids with JM show symptoms at different ages.
“This is an autoimmune disease and it's not always predictable, so sometimes the flares, meaning the inflammation can come back,” she said.
Because the disease is so rare, there’s very little research being done to find a cure.
“There are only two to four new cases (per 1 million kids) every year -- very rare,” Dr. Julia Zhang explained.
But she says if caught early, JM can be treated.
“Some kids can be doing really well and medication free,” Dr. Zhang said.
The Ryans say Liam has come a long way since his diagnosis. While his physical appearance has changed because of the steroids and medication, they say his joy for living hasn't. Now their mission is to find a Cure for J-M.
“This is not a disease that gets much attention from the big pharma, it's just how it goes,” said Liz.
And her family is hoping to change that.
That's why the Ryan family is holding an event this weekend, hoping to raise money to help fund more research for JM.
The event is this Sunday from 10 a.m. to 1 p.m. at King's Bowling in Burlington.
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