Wednesday, October 26, 2016

A rare mitochondrial mutation

The illness ravaged her 25-year-old body and left her family broke and in need of help.

Rachael Miller’s condition, a genetic disorder that 1,000 to 4,000 American children are born with each year, requires six medications administered through IV, a steady flow of nutrients delivered through ports in her chest, and about $35 worth of disinfectant supplies and gauze every day. The Millers declared bankruptcy this summer, having spent nearly 10 years and about $100,000 fighting an illness with no cure.

Rachael’s mother, Karen, turned to Gofundme in August for help despite Rachael’s aversion to public attention…The Gofundme campaign, simply titled “Rachael’s Medical Needs,” has raised $6,100 of the $60,000 requested.

The money is for an automatic hospital bed that Rachael can use on her own, a car to accommodate a wheelchair and medical supplies.

“Rachael’s doctors have told us that her disease has progressed into its final stages,” Karen wrote on Gofundme on Aug. 13. “How long that means she has we don’t know. It terrifies me and grieves me beyond words. Rachael has always been a fighter.”…

The Millers were once an idyllic Lexington family: a father in pharmaceutical sales, a mother who worked at a blood bank and three ebullient children who filled their three-story home in the Beaumont subdivision with noise.

Gabrielle, the oldest child, remembers how close the family was before disease descended. She and Rachael were inseparable. Both girls, only a year apart in age, would make home movies with their brother Seth, now 22. One video was about magic underpants.

If the three Miller children weren’t home playing with their friends, they could be found at the Beaumont YMCA.

“My house was a place for the kids to have what they couldn’t: pizza, candy,” said Gabrielle, 26.

In 2007, Karen started feeling lethargic and was diagnosed with autoimmune hepatitis, a chronic illness in which the body attacks the liver. About the same time, Rachael’s childhood eczema, a common skin condition, started worsening. Eventually her entire body was covered in a rash — even her eyelids. The family’s medical mystery began.

Soon after Karen and doctors helped Rachael fight off the skin condition using prednisone and other medications, she was diagnosed with eosinophilic esophagitis, an immune system disease that can severely affect eating…

The Millers were reeling, and they were desperate to find out what was going on with Rachael’s health. The family spent the next several years searching for answers from more than 30 doctors at renowned hospitals, including the Mayo and Cleveland clinics. Meanwhile, Karen suffered from end-stage liver disease and was in need of a transplant. Karen’s husband, Terry, was diagnosed with bipolar disorder.

“It wasn’t scary,” Rachael said, remembering the early stages of her illness. “I thought, ‘It’ll go away.’ When it didn’t go away, I just wanted to find an answer. It’s not like I was looking for a certain disease. I just wanted to know that I wasn’t crazy. Am I creating this in my own head?”…
The Millers found clarity for Rachael in Atlanta. Dr. John Shoffner, a geneticist, was the first to identify Rachael’s rare mitochondrial mutation. The prognosis was grim, but Rachael found peace in finally knowing what was wrong with her…

Rachael transferred to the closer Xavier University, near Cincinnati, after one semester. She left the school in spring 2011 because of medical reasons. Rachael never returned.

On Christmas Eve 2014, Karen received a new liver at University of Kentucky Chandler Hospital.

“My mom has always been extremely strong,” Gabrielle said. “She’s been the rock of the family. … That was the best gift ever.”

The Miller were evicted from their three-story house in Lexington’s Beaumont subdivision in early August. The family moved to a small single-floor house in Vine Grove, in Hardin County. The home is much quieter now, with the gentle whir from Rachael’s two IV pumps breaking the silence every so often. One is a pain pump with narcotics (which is refilled once a week by a visiting nurse) and the other provides nutrition the only way Rachael can get food without getting sick.

Rachael, the once-svelte high school swimmer — her favorite stroke was the butterfly — has lost more than 60 pounds.

Karen’s tireless support of Rachael over the past decade has forced her to miss the college graduations of her other children. Her life is dedicated to helping Rachael fight her disease.

Rachael spends most of her time sleeping or on an iPad, watching shows including “Friends” and “Vanderpump Rules.” She also listens to NPR. Aside from her mom, her constant companion is Phoebe, her Great Pyrenees. The only time Rachael leaves home is to visit doctors or to have infections around the port in her chest treated. She has had four infections this year.

The money raised thus far on Gofundme has made a considerable impact on the Miller family. For Karen and Rachael, though, the words of support and stories from complete strangers have been priceless.

“No one can say, ‘She’s going to die next week or tomorrow,’” Karen said. “She can last a lot longer.”

There is a video at the link of Dr. John Shoffner talking about mitochondrial disease.

Courtesy of  Doximity

See .http://childnervoussystem.blogspot.com/2016/07/sarah-wisely.html

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