Dealing with
mitochondrial

By Tom Waring
Times Staff Writer

Therese Garvin was a healthy married mother of three who also worked outside the home back in 1997.
That year, she began tiring easily and experiencing weakness and numbness in her arms and legs. She’d fall when her legs gave out. A metabolic stroke temporarily paralyzed one side of her body.
Doctors suggested she could have multiple sclerosis or Lou Gehrig’s disease. One prescribed Prozac, which treats depression and wouldn’t give a referral.
Garvin used a wheelchair or walker to get around and took prescription medication, but MRIs and CT scans were good.
Finally, after four years of suffering, she was referred to Hahnemann University Hospital Dr. Terri Heimann-Patterson.
The doctor performed a leg muscle biopsy and offered a diagnosis. Garvin had mitochondrial disease.
"It was the worst day and the best day of my life," she said. "I had an answer, finally."
Mitochondrial disease is caused by defects in the body’s energy-producing cells. When the organs and systems of the body are deprived of energy, they begin to fail. Those organs include the brain, heart, skeletal muscles, kidney, liver and endocrine and respiratory systems.
There is no cure, and the disease can be fatal.
In Garvin’s case, Heimann-Patterson prescribed various medications that have been largely successful, allowing her to walk without assistance. The doctor adjusts the medicine when needed and welcomes calls to her cell or home phones for any questions.
"She’s fabulous," Garvin said. "I would have been dead if I hadn’t found her."
Garvin, 38, also gives a lot of thanks to her large extended family and circle of friends.
"I don’t know what I would do without my family and friends," she said.
Another big help has been the United Mitochondrial Disease Foundation. After being diagnosed, she "Googled" the name of the disease and found out about the local chapter. She traveled to Harleysville for a fund-raising walk/run and now organizes a similar event near the Philadelphia Museum of Art. This year’s event will take place in September.
The organization has helped her, and she has taken a leadership role as president of the Delaware Valley chapter. Her mental and physical well-being have improved thanks to the UMDF, she said.
Garvin, 38, has been president of the local chapter since May 2007. The basement of her home on Dimarco Drive in the Far Northeast includes a computer, telephone, scanner, printer, fax machine and filing cabinets.
Though the position is voluntary, Garvin works full-time hours assisting others with the disease and their families. She has held meetings at Holmesburg and Ramp playgrounds and will schedule meetings in New Jersey and the Pocono Mountains to accommodate members who live there.
"It’s the best job I’ve ever had, and I don’t get paid for it," she said.
Garvin said her leadership role allows her to contact experts who teach doctors about a disease that is relatively unknown. She and other activists were successful in convincing state lawmakers to declare September as Mitochondrial Disease Awareness Week.
"It’s my way to help other people," she said.
On Saturday night, Garvin will host the fifth annual Brew at the Zoo. The event raises money for the Pittsburgh-based UMDF, which passes some of the funds on to researchers and uses the rest for support and awareness. The national organization has raised about $6 million since its founding in 1996.
The first four beer-tasting fund-raisers were held at the Elmwood Park Zoo in Norristown. Last year’s event attracted a crowd of 1,400.
This year, the fund-raiser will be held at the bigger and more prominent Philadelphia Zoo. More than 30 brewers will be there, along with food vendors. There will be live musical entertainment and a disc jockey, and guests will be able to freely walk the Zoo grounds. Prizes will be available in a Quizzo contest.
Tickets cost $40.
"It’s a great night out for forty bucks," Garvin said. "No one has to open their pocketbook once they’re in."
Garvin looks healthy, though she has organ damage. She must take about 100 supplements and prescription pills and two medicated drinks every day. She has regular doctor visits.
The vitamins are not covered by insurance, but she was given a big assist last year by Fluke’s Irish Pub patrons, who donated $1,000 from a football pool.
Garvin sometimes uses a scooter to get around when she’s at an amusement park or boardwalk, but doesn’t use a handicapped license plate.
She needs air conditioning at home and in cars, or she’ll experience a metabolic crisis. She cannot stand in front of a hot grill and must be careful when cooking near an oven. She will also be able to stay cool in a pool soon to be installed at her house.
Her body has shut down five times since her 2001 diagnosis, resulting in hospital stays.
The family moved to a rancher so she wouldn’t have to climb steps. A bathroom, refrigerator and washer and dryer are all in the basement.
Garvin said experts in the field describe sufferers of the disease as "the faces of mito," since they range from healthy-looking people like her to those with cerebral palsy.
Mitochondrial disease is genetic, and Garvin is worried about her relatives. She understands that the disease can’t be prevented, but hopes for an earlier diagnosis now and a cure in the future.
"It’s rare that only one person in a family has it," she said.
On June 27, Garvin was honored with the Living, Encouraging, Achieving and Persisting (LEAP) award at the UMDF’s annual symposium in Indianapolis. She was unable to attend, as an uncle died on the day she was scheduled to make the trip.
Looking to the future, she is positive. Her son said he wants to find a cure for the disease. A daughter wants to specialize in occupational therapy. Those are some of the good things that came out of her initial nightmarish experience with mitochondrial disease.
"Things happen for a reason," she said. "That’s what I live by. We all have crosses to bear. I’m never negative." ••
Reporter Tom Waring can be reached at 215-354-3034 or twaring@phillynews.com

If Brew at the Zoo is for you . . .

The fifth annual Brew at the Zoo will take place Saturday from 6 to 10 p.m. at the Philadelphia Zoo, at 3400 W. Girard Ave.
Tickets cost $40 in advance and $50 at the door. Designated driver tickets are $15.
The cost includes beer, non-alcoholic drinks, food, live entertainment and unlimited access to the Zoo. All guests must be age 21 or older.
Shuttle buses will leave at 5 p.m. from Disston Recreation Center, Disston and Glenloch streets in Tacony, and Ramp Playground, Rowland and Solly avenues in Holmesburg. The buses will return by 11 p.m.
The fund-raiser will benefit the United Mitochondrial Disease Foundation.
Organizers are still accepting brewers, vendors, sponsors, volunteers and donations.
Call toll-free 888-317-UMDF or visit www.umdf.org/batzphiladelphia