Ala siblings living with rare blood disorder

FLORENCE, Ala. (AP) — As siblings, Margaret Everett and James Taylor share a lot, but there is one thing the pair wishes they didn’t have to share.

They are both living with Gauchers Disease, a rare chronic and progressive genetic disorder that occurs when the body does not produce enough of the enzyme glucocerebrosidase.

Without a sufficient level of that enzyme, a fatty substance called lipids builds up in cells and on some organs, including the spleen, liver, lungs, kidney and even the brain in some cases.

It was an enlarged spleen that led to the diagnosis for Everett more than 20 years ago. Her spleen was removed, but that wasn’t the end. She’s had numerous fractures because of weakened bones. Everett still deals daily with the bone and joint pain from the disease.

“Some days are better than others,” she said. “But I still have plenty of days when I hurt so bad I don’t want to move. I have to get in the shower and just let the hot water run all over me.”

Cold weather is her nemesis.

Everett has one working kidney and it functions at 50 percent. She’s dealt with Gauchers so long, she no longer knows what good feels like, she said.

“I was told when I was diagnosed, there were only 1,500 others in the United States,” she said.

They both live in the Franklin County community of Frankfort. Everett said she was told her brother James didn’t need to worry.

“He wouldn’t have it,” she said. “That is what I was told.”

But the doctors were wrong. It’s a rare occurrence, but eight years ago Taylor received the same news his sister heard years before.

At the time, Taylor was working for Norfolk-Southern.

“If I worked for one hour, it would take two hours in the bed for me to recover,” he said.

Everett and Taylor receive enzyme infusion treatment every two weeks in Florence at the Blood and Cancer Center. Dr. Anthony Kalliath oversees their treatment.

“There is no way to cure Gauchers because it’s a genetic condition,” Kalliath said. “When someone is younger, they may not show many or any problems, but we monitor them. We start treating when the problems begin to manifest.”

Kalliath currently has three patients with Gauchers. He’s had others in the past. The numbers seem small, but, he said, considering how rare the diagnosis is, that number of patients makes him among the leaders in the state.

It’s also important to patients that treatment be close to home, especially with Gauchers, which requires biweekly treatments that can last three hours.

“If I had to go to somewhere else, I probably wouldn’t do it,” Everett said. “I couldn’t make the drive.”

Taylor said Kalliath goes beyond the normal treatment protocol.

“We do extra blood work every time we are here,” he said. “He wants to see that each time. He says ‘I don’t want to wait six months to see a problem.'”

Taylor recently celebrated his 60th birthday. It was a big celebration for his family.

“I’m the only male in my family to get out of my 50s,” he said. “That’s a good reason to celebrate.”


Information from: TimesDaily,

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