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"I walked into the geneticist's office, and she, with tears in her eyes, asked me how Riana's walking was doing, and she told me that (she) would lose her mobility, that she's been diagnosed with a really rare gene disorder: KCNB1," Francisco said.

"I think I blacked out after that. Nothing registered, literally."

Later, Francisco said she would remember being relieved that they knew what the problem was. Later still, even that small comfort would evaporate, as she realized how little was known about her daughter's newly-named disorder.

Renzo Guerrini is a professor of neuroscience at the University of Florence, Italy, and a leading expert in the study of epilepsy.

Reached by phone in Florence, he said KCNB1 is caused by a genetic mutation, and can be considered a spectrum disorder meaning that symptoms exist on a spectrum and can be more or less severe, depending on the person.

However, there are some common symptoms among the 70 patient-cases he's studied.

"All patients have developmental delay, and about 85 per cent also have epilepsy," he said.

In Riana Faith's case, she's also limited in how she can communicate. While she speaks a few words here and there, like asking for "bubbles" to play with, or demanding a "kiss" from mom, she also relies on a tablet-talker to help express herself. For instance, if asked what colour red was, she could point to a red object. But when asked what colour a red object was, she would say purple. With the tablet, she could press a button that would say "red" for her.

"That's a major feature which has been underlined,"Guerrini said. "About 50 per cent do not develop any language. They are non-verbal," he said, adding that all cases have a major language impairment of some kind.

Riana Faith is also extremely active. On a recent day home from school due to teacher strikes, the six-year-old bounced around the room, her attention careening from toys, to pens, to yogurt and whatever else she could grasp in the space of a few minutes.

She also loves to sing. Her mother calls her "the most patriotic girl ever" because she always tries to hum/sing along with "O Canada."

Ironically, some of the only time Riana Faith focuses is with the music blaring, the TV on in the background, while bouncing up and down dancing with her toy guitar and singing "we're gonna rock, rock, rock, rock, rock, and roll. Repetitively ..." Francisco said.

"I'm constantly apologizing."

As far as treatment is concerned, Guerrini said there isn't any specific treatment established for a KCNB1 diagnoses. Doctors have only known about the genetic mutation for about six years, and there isn't enough information to reach definitive conclusions.

"For example, in a centre like ours, which is one of the main centres in (Italy), we have seen seven cases," he said.

Likewise, Francisco says there are less than five cases in Canada, and she hasn't come across anyone focusing on KCNB1 research here.

So, while her doctors can try to treat symptoms, such as assigning medication for different types of seizures, there is no way to directly treat the disorder.

"And there's no indication that the behavioural problems, the language problems, can benefit from any specific program or type of approach," Guerrini said.

His recommendation for people with rare gene disorders is to take advantage of the internet, "start a club" where people with the diagnoses can share information, and get the word out about their struggle.

As someone struggling for answers, Francisco says she's already gone that route. Her daughter's story is posted to KCNB1.org, a website that tries to shed light on the disorder.

It was there the mother found comfort in reading stories from people with like experiences. For instance, other parents of children diagnosed with KCNB1 have said a complete loss of mobility may not be inevitable.

It was also in the KCNB1 community that she learned about an upcoming conference in Chicago, where Faith can get time with doctors specializing in her rare condition.

Francisco is hoping to raise $2,500 to cover the trip. You can click hereto be taken to her GoFundMe page.

Riana Faith might have everything she needs to be happy bubbles, some Splash'N Boots (a musical duo), maybe a pudding, if mom says it's OK. She's even been given a wish fund from the Guelph Wish Fund for Children, says executive director Sharon Rice.

But it's her mother who really stands to benefit from the Chicago trip.

"That's the thing, I don't want anyone to feel sorry for her. She is a very happy child. There's nothing I won't do for this kid," Francisco said.

"(In Chicago,) they're going to see our children, one-on-one. That, for me, I need."

Visit link:
Mother of Guelph girl with 'rare' genetic mutation looks for help, and hope - GuelphMercury.com

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