Milo man with rare syndrome faces life of pain

Laurie Rublee and her son Austin Bell.
Diana Bowley | BDN
Laurie Rublee and her son Austin Bell.
By Diana Bowley, BDN Staff
Posted Oct. 13, 2011, at 6 p.m.

MILO, Maine — One minute this summer Austin Bell, 24, of Milo, was making plans to take a welding course to expand his employment skills. The next minute he was struggling to stay alive.

That struggle has continued to this day for the Milo native, who was diagnosed in September with Ehlers-Danlos syndrome, a group of disorders that stem from gene mutations. Bell has a defect in his connective tissues that has affected his vascular system. The defect is the most serious of the group of disorders because of the possibility of organ and vessel rupture. Ehlers-Danlos also can affect the skin and joints.

Medical research shows the syndrome touches 1 in 5,000 people, both men and women, according to the Ehlers-Danlos Foundation. It has no known cure.

“I’d never even heard of it,” Bell said Wednesday during an interview.

Despite being unaware of it, Bell’s introduction to the syndrome actually came early in his life, according to his mother, Laurie Rublee of Milo. She said Bell was born with a cleft palate, which was surgically operated on when he was 10 months old. At 3 years of age, Bell had heart surgery, and in middle school he had surgery for a hernia. Severe and constant migraines started when Bell was in the fourth grade and have continued since. All are symptoms of the disorder, according to Rublee.

Those symptoms in themselves were never connected by family members or by doctors and medical specialists who saw Bell over the years.

“It wasn’t anyone’s fault. Since this is so rare, who would have thought to check for this?” Rublee said. “If anybody is to blame, it’s me if I passed this on to him.”

On Aug. 23, Bell experienced severe pain in the left side of his stomach and one of his legs became black and blue. He was taken to Eastern Maine Medical Center in Bangor, where he spent the night and then was airlifted the next morning to Massachusetts General Hospital in Boston.

“I left the hospital and in the car on the way over I was giving verbal consents to the doctors and the anesthesiologists to operate,” Rublee recalled. It was life-threatening, she said.

In Boston, Bell underwent double iliac bypass surgery because both arteries had dissected at the same time. He was still in surgery — a nine-hour ordeal — when Rublee and her husband, Rick Rublee, arrived by vehicle several hours later. Bell under went genetic testing and learned of the diagnosis on Sept. 27.

Rublee, who has not exhibited any symptoms of the disorder, plans to have her genes tested next Monday when Bell returns to the Boston hospital for his check-up. Rublee’s twin daughters also will be tested.

It doesn’t matter to Bell how he ended up with the disorder — he knows that he has it for life. “The biggest part is like the feeling of having pretty much everything I used to enjoy in life just taken away,” he said, his eyes moist. “It’s the worst feeling.”

Bell, who worked for Labree’s Bakery for five years and had advanced to supervisor, had been looking forward to his future when the medical emergency struck in late August. He had his own apartment in Old Town, played the drums, worked six days a week, and was active.

“I had nothing planned, but I had a lot of ideas and things I wanted to do for my future,” Bell recalled. “The same week I went into the hospital, I was on the phone talking about welding classes.”

Since the operation, Bell has lost 25 pounds. He is in constant pain, he can’t lift heavy objects, and is very depressed. He left his apartment and moved back in with his mother and her husband.

“I’ve been suffering from depression all my life, but this is by far the worst. I pretty much don’t have a life right now,” Bell said.

“It’s numbing,” Rublee said of her son’s condition. She said it’s difficult to see her son in so much pain. “When I go in at night, before I go to bed, there’s Austin sitting up, he’s so depressed, he’s so sad. I’ll sit on his bed for a while and we’ll just talk for a bit, but then I have to walk away and go to bed. How does a mother do that? How do you just say, ‘Good night, honey,’ and give him a hug and tell him you love him, knowing he’s in so much pain?” she said, her voice cracking.

As Bell and his family deal with the pain, they are also aware of the staggering medical bills. Rublee estimates that her son’s hospital and physician bills, his daily medicines, and travel expenses now amount to about $300,000. Her son has no insurance, and his requests for Social Security disability and MaineCare are pending.

The community has been extremely supportive, according to Rublee. “The outpouring of love from people is just incredible,” she remarked.

She works in the SAD 41 special education department and school officials have allowed her to check on her son at home during the workday. “They are so generous with me, anytime I need it I can take it, but I have a job to do, too.”

Two fundraising events have been held for the family and a public spaghetti supper is planned on Nov. 5 at Brownville Elementary School. In addition, friends opened an account in Bell’s name at Maine Savings in Milo. Rublee said a quilt raffle was held and the money was deposited into Bell’s account, which helped the family with their living expenses in Boston while he was hospitalized.

“Coming back home to Milo was not something Austin had planned on in his life, but I think even Austin is a little amazed at the caring community,” Rublee said.

Bell agreed. “I’m blown away by the love and support from everybody.”

http://bangordailynews.com/2011/10/13/news/piscataquis/milo-man-with-rare-syndrome-faces-life-of-pain/ printed on September 15, 2014