Living with Rett Syndrome: A young girl's battle

MENOMONIE, Wis. (WEAU) -- October marks a month of campaigns like Breast Cancer Awareness and Domestic Violence Awareness. But one campaign many people haven’t heard of is Rett Syndrome Awareness.

A 12-year-old girl from Menomonie is facing an everyday battle with the rare neurological disorder called Rett Syndrome.

In fact, it's so rare that doctors say only 1 in 10,000 to 1 in 15,000 female births are affected.

“A Rett girl laughs with her eyes, smiles with her soul, hugs with her heart and loves with her spirit,” said Kathy Falk’s mom Arla Falk. “There’s no speaking necessary.”

Arla said the message her daughter has is in her eyes and her hands, but Arla also has an intuition on what Kathy is saying.

“She was our 4th child so we thought she was going to be a piece of cake. We thought everything was perfect but yet I had a funny feeling,” said Arla who raised Kathy with her husband. They also have three older children.

Baby Kathy hit her milestones like any developing child; crawling, walking and talking.

“But when she was about 15 months old, she started dropping things, that’s what first clued us in,” said Arla.

At age two, Kathy was diagnosed with Rett Syndrome.

“I’d never heard of it before and he told me basically enjoy your now because the next year is going to be pure hell. And it was. She lost everything within 6 months,” said Arla.

Dr. Arthur Beisang is the Rett Syndrome Clinical Medical Director at Gillette Children’s Specialty Healthcare in St. Paul.

He has been Kathy’s doctor for several years now and is an expert on the rare syndrome.

“Rett syndrome is a syndrome and not a genetic diagnosis. What happens mostly with girls, they start out life with pretty much normal development, they’re crawling, and they’re pulling to a stand, starting to walk, often times saying a few words,” Dr. Beisang told us.

But he added, somewhere between six months to a year, they start to lose all of those normal childhood milestones, like walking and talking.

“They a lot of times they have trouble with seizure disorders, often they'll have trouble with respiratory issues and some digestive issues,” said Dr. Beisang.

Life expectancy is expected to reach the 30s and 40s, but he said with earlier recognition of the syndrome and more intensive care along the way, there’s no reason those diagnosed cannot live longer.

That’s something Arla and her family is making sure of. Arla has been a stay-at-home mom since giving birth to Kathy, making sure her daughter is healthy and taken care of.

Right now, Kathy weighs 40 pounds and sometimes has to be fed through a feeding tube. But for the most part, Arla says she’s able to eat with her mouth.

There’s also one too many near-death experiences, Arla said.

“I was rocking her and I put my hand on her chest because she was not doing well, and I looked at her and I said it’s okay, mama loves you and everything’s going to be ok. And she took a deep breath and the most beautiful smile and her heart quit beating and she was hooked up to machines at the time and there was nothing. She was gone,” said Arla.

But moments later, a miracle. Something Kathy’s mom attributes to prayer.

Now in 2012, they’re even communicating with Kathy in new ways.
Although “eye gazing” is the prominent way of communication, by reading Kathy’s eyes when she looks towards a certain direction, the technology of iPad has played a key role.

“I have fought for her for so many years trying to make people understand she is in there, she does understand and recently we got her an iPad and she’s proving she is in there and it’s like, we just want to jump and down and say ‘I told you,’” said Arla.

A “Yes/No” app can be downloaded on the iPad, a tool that Kathy is also able to use at school to communicate with her aid, teachers and classmates at River Heights.

“We are totally blessed that she is still with us because medically speaking, she shouldn't be,” said Arla.

Major research is being done to find a cure, said Dr. Beisang, but right now there are only treatment methods.

“There’s a whole host of therapies that are looked at, different medications that could help with some of the more or less stabilization of the neurological issues in the brain stem,” Dr. Beisang said.

Gillette Children’s Specialty Healthcare is also working on a campaign right now called “Gillette’s Cure Pity” movement.

The movement is all about rejecting the notion that children with disabilities should be pitied, and instead encourage an attitude of acceptance and understand; something Arla agrees with for the sake of her daughter.

Kathy’s Caring Bridge website can be found at http://www.caringbridge.org/visit/kathyfalk.

For more information on Gillette’s Cure Pity movement, head to http://www.curepity.org.


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