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Family, child coping with rare genetic disorder

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By Walt Reichert

A three-year-old and her family are coping with a genetic disease that is rarer than their chances of hitting the Powerball jackpot.

After enduring surgeries at birth to correct heart and breathing defects and falling behind on developmental charts, Reanna Miller was recently diagnosed with Townes Brocks Syndrome, a genetic disorder that hits fewer than 200 people worldwide. The disorder is characterized by extreme to moderate disorders of the kidney, ears, anus, hands, feet and heart. It affects males and females equally. There is no cure for Townes Brocks. Early surgeries to correct its effects are key to normal development for children.

Born a twin to her brother, Ryan, who does not display symptoms, Reanna has already endured heart surgery, has been on a ventilator, is partially deaf and has a feeding tube inserted. Gastro-esophageal reflux disease (GERD) keeps her from eating many foods because of their texture. Before the feeding tube was inserted, she did not get enough calories to make her grow properly.

"The doctors described it as how you feel when you get a hair in food - you gag," said Reanna's mother, Renee. "But they said she feels that magnified about 10,000 times."

Reanna has had a team of physicians to diagnose and help her overcome the effects of Townes Brocks - audiologists, nutritionists, cardiologists, pediatric surgeons, opthalmologists - as well as speech, occupation and physical therapists. Reanna attends the Dorman Preschool Center, which caters to the needs of at-risk children. Renee Miller said her local primary care physicians, Pediatric and Neonatal Practice, have been instrumental in getting Reanna to the appropriate specialists when necessary.

"Their willingness to learn about the disease and get us the care she needs has been phenomenal," Miller said.

Of immediate concern is getting Reanna to learn how to eat properly. Physicians at Kosair in Louisville have recommended the Day Patient Feeding Program of the Children's Hospital in Richmond, Va. The program is 6-8 weeks of intensive therapy designed to teach Reanna to eat more kinds of foods. The program also involves medical treatments and family visits.

The problem is the cost -- about $30,000. Renee's and her husband Roy's insurance will cover only a small portion of that. So Renee has started raising funds to get Reanna into the program. She has a fundraising night set up at the Comedy Caravan in Louisville on Dec. 23. The show is at 8 p.m. and the cost is $20. She also has a Celebrity Tip Night planned for the local Pizza Hut on Jan. 7 from 5-9 p.m. The Shelby County Optimist Club is also helping (See box).

"I feel that Reanna deserves the freedom of enjoying the sensation of eating and growing naturally," Renee Miller said.

For information about the fundraisers, call Miller at 502-468-8540.

How to help

The Shelby County Optimist Club is helping the Miller family raise money for Reanna. The club has set up a savings account at American Founders Bank/Reanna Miller Fund. Donations can be mailed to Optimist club president Jean Glore, 1034 Mt. Eden Road, Waddy, Ky. 40076. For more information, call Glore at 502-738-5506.