Oklahoma researchers looking for additional patients across the US with rare genetic mutation

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OKLAHOMA CITY (KFOR) – Behind one Oklahoma 8-year-old’s infectious smile is a fighter. 

“I’m smaller than most people,” said Madison Cain. 

Madison was born smaller than most babies, too, at 5 lbs. 9 oz. 

“She was teeny tiny, she calls herself a little itty-bitty baby,” said Madison’s mom, Melissa Cain. 

For Madison’s first year, Melissa says there weren’t many issues. 

“Around 15 months or so she quit growing in length, she quit gaining weight, and so that began our journey to figure out what was going on,” said Melissa. 

The Tulsa residents had no idea what this journey would entail. 

By age two, Madison was diagnosed with hip dysplasia and cataracts. 

She got those initial diagnoses treated, but still wasn’t growing. 

“Then we really started thinking this isn’t all adding up she doesn’t grow, she has the hip thing, she has cataracts, there has to be something,”  said Melissa. 

The family started genetic testing, while Madison’s symptoms persisted. 

“Still low energy not growing well,” said Melissa. “She couldn’t keep up with her peers, you know running and things weren’t the same we were doing all kinds of things and just not a lot of answers.”

The Cain’s spent hours researching, and even more time at the doctor’s office, but it was years of dead ends. 

“No energy, sleeping 16 hours a day barely making it through school, not gaining any weight,” said Melissa. “She was 5 and weighed about 25-28 pounds, but she is the most easy going, not stressed out, tough child.”

Madison’s strength paid off. 

A break-through finally coming in 2019. 

“The genetics doctor called and said here this is what it is, there’s one published paper, with a patient with this. It’s not her, so we’ll just put it in a database and see if anything ever hits,” said Melissa. 

But as a nurse practitioner herself, Melissa sat down and read the article. 

She realized it was written by doctors, just down the turnpike, at the Oklahoma Medical Research Foundation. 

“This is a new disease and we’re the first one’s that discovered it,” said Dr. Lijun Xia, Member and Chair, Cardiovascular Biology Research Program at OMRF. 

Madison has rare gene mutation to the MBTPS1 gene.

“Madison, inherited a wrong copy from her mother and the father so, therefore even though she has two copies of the gene both are wrong… both have mutation,”  said Dr. Xia. 

The mutation, resulted in a condition called Spondyloepiphyseal Dysplasia, Kondo-Fu type, or SEDKF for short.

The condition named after two of Oklahoma’s scientists.  

The disorder hinders Madison’s bone growth and development. 

“This is a very rare genetic disease,” said Dr. Xia. 

There are only two known cases in the state, Madison’s and another girl named Sydney in Yukon, who was the first diagnosed. 

Since publishing the article, OMRF now knows of about eight cases worldwide. 

“We have one contact us from Germany, one from Brazil, and there’s also one from San Francisco,” said Dr. Xia. 

Doctors think that could be because many patients are misdiagnosed. 

The mutation can also affect every patient differently. 

However, there’s hope on the horizon. 

Researchers have come up with a possible treatment but need 50 patients for a clinical trial. 

Now they’re searching for cases across the country. 

“Of course, I wish that we had the answer plus enough patients to do a trial and see if the treatment would work and I’m hopeful that we can get there before her bones stop growing,” said Cain. 

The protein used for treatment has already been approved by the FDA to treat a different disease. 

Researchers have tested the treatment on mice successfully. 

For Madison, this treatment could mean everything. 

“It could change our life and change her life for the rest of her life,” said Cain. “We never thought we’ve get a Madison, but there’s no one like Madison.”

For more information visit the OMRF website.

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