ST. LOUIS (KMOV.com) -- Two families have been brought together by one incredibly rare disease. A son and a daughter, slowly turning to bone, aren’t letting the difficulties that come with such a rare disease dim the light on the future for a cure.
Carli Henrotay and Billy Schmitt have been dating since middle school and have already been tested in "sickness and in health."
Henrotay has an incredibly rare disease called FOP, Fibrodysplasia Ossificans Progressiva.
FOP is a genetic disease where the body's tissues, ligaments and muscle harden into bone. Trauma like a fall or surgery, and even some illnesses, can trigger a flare up.
“When they get injured, they create new permanent skeletal bone, so they eventually become encased in a second skeleton,” Dr. Martin Schmitt, with SLU School of Medicine, said.
He said the disease affects about 900 people worldwide and there are fewer than 200 known cases in the United States. Two of those cases, Schmitt has treated in the St. Louis area.
Tim, who lives in the Metro East, was diagnosed with FOP when he was a toddler. He’s the youngest of four boys.
“I'm the only one in my family who has the disease,” Tim said.
His FOP has caused him to have severe scoliosis, and like Henrotay, Tim’s hips are affected causing them both to walk with a limp.
They also have FOP-related problems with their jaws.
“My jaw locked which gives me less than 2 milimeters of opening in my jaw,” Henrotay said.
Her neck is solid bone which means she can only look down when she walks so someone walks ahead of her. FOP also caused her shoulders to fuse, which limits how far she can lift her arms.
Tim's elbow joints have turned to bone.
Right now, there is no cure for FOP so the disease comes with a grim prognosis.
“I was originally told it was worse than cancer,” Tim’s mom, Debbie, said.
Both mothers said they saw the first signs of FOP in the nursery.
“At birth I noticed the toes,” Debbie said.
"First thing I said to her doctor was what's wrong with her toes? He said, ‘She would not want to wear flip flops,’” Henrotay’s mom, Lori, said.
Turns out the short, curved big toes are a genetic marker for FOP, but in the late 90s doctors were unfamiliar with the disease; so, the families went about life. Henrotay lived like any other kid until she was about five-and-a-half years old.
“I remember thinking she will never have kids, she'll never walk down the aisle,” Lori said.
Tim's diagnosis came earlier, when he was about three.
As a baby his mom said he had bumps on his head and other parts of his body. Doctors thought it was cancer.
“The oncologist from Cardinal Glennon called and said it's not a desmoid tumor like we thought, it's worse,” Debbie remembered.
On the other side of the darkness of FOP, there is hope for a cure.
“I believe that is on the horizon and will happen in our children's life time,” Debbie said.
With fundraisers, the families have been able to raise $250,000 over the years, and efforts like that are making a difference.
In 2006, researchers discovered a gene for the disease. That was a breakthrough. Pharmaceutical companies started to take an interest in finding a drug that could stop the formation of bone.
That would mean FOP patients could have surgeries that would improve their quality of life.
“If his back could be straightened just a little it would improve his posture and his ability to walk and possibly drive,” Debbie said.
An approved treatment starts with clinical trials which Tim and Henrotay both participate in.
“I wanted to be able to use my bones again,” Tim said.
For now, these families living with FOP are doing just that, they're living.
“I learned early on that I was going to make this life what I wanted it to be, and I wasn't going to let FOP stop me or slow me down,” Henrotay said.
There are two more cases of possible FOP in Missouri. That would make at least four in the state.
Doctors are still working with clinical trials for drugs that could at least stop the progression of the disease which will hopefully one day lead to a cure.
If you’d like to support the hunt for a cure visit ifopa.org.