Written by Patty Decker Tuesday, 22 June 2010 18:10
Ginger Hoffner of Durham has a 16-year-old son fighting a rare disease, and she hopes that by talking about it, it will draw attention to the challenges other families might be facing in similar situations.
The youngest of three children, Marshall has a genetic disorder known as Alström Syndrome, with only about 200 cases confirmed in the U.S. and an estimated 600 cases total in 47 countries.
Marshall, who will be a junior at Hillsboro High School this fall, was diagnosed with the illness almost four years ago, but his mother suspects he had the syndrome since his birth.
“Ever since kindergarten,” she said, “Marshall wore glasses.”
When he was about 12, she said she took him for what she thought would be a routine follow-up eye examination.
Up until then, Marshall seemed as healthy as any other child his age, except for his vision problems.
During Marshall’s visit with Hillsboro optometrist Paul Unruh, Ginger said, the doctor was concerned about two things.
What happened in the weeks and months to come, though, would be a parent’s worst nightmare.
“Dr. Unruh wanted us to see someone in Wichita about Marshall’s lazy eye and because his vision was not corrected to 20-20 even with glasses,” she said.
Rather than looking at surgery, though, the second doctor told Ginger he didn’t like what he was seeing.
“He asked me if I would be willing to see a retinol specialist,” she said.
The second doctor referred Marshall and Ginger to Paul Weishaar with Grene Vision Group in Wichita.
After examining Marshall, Weishaar told Ginger he thought the problem could be something else.
He asked Ginger if she would consider having her son meet with a friend and colleague, who was visiting from Iowa State University.
Without hesitation, Ginger agreed to see the specialist, saying she was willing to do whatever it took to find out what was wrong with her son.
After testing Marshall’s blood, discussing his condition with family members, and waiting for results, the genetic clinic called.
“They told me it was Alström Syndrome and gave me a whole packet of information to read,” she said. “By the time Marshall had his diagnosis, another girl in Kansas was diagnosed with the same thing.”
As for Ginger, having a diagnosis was a good thing, but it was heartbreaking.
“Doctors have no way to slow this disease down or reverse it,” she said.
Her son’s vision continues to decline and he is going blind, she said.
Other problems associated with Marshall’s genetic disorder include childhood obesity, blindness, hearing loss, diabetes, weight gain, insulin resistance, shorter life span and related illnesses.
He has gone through so much, she said, but he has a good attitude about it.
Four years ago, she said, Marshall’s condition kept snowballing, starting out with what seemed a routine eye exam to building into potentially dangerous conditions.
Yet, in spite of his medical problems, Marshall is doing OK, Ginger said.
One of the things he would like to do more than anything right now is attend a camp in Helen, Ga., from June 24-28.
The camp will offer Marshall a chance to visit with people his own age and will offer his mother an opportunity to learn more about his illness.
Fighting a rare disease without support or a roadmap was difficult for Ginger as she stood by helplessly watching doctors determine what was wrong with her son.
For Marshall, this illness has made it almost impossible for him to take part in a lot of activities other youth his age can do.
“He is still a regular teenager,” Ginger said, “he enjoys video games and playing chess.
As for the rest of the family, Marshall’s, sister, Tasha, 20, is very protective of her little brother, Ginger said, and his brother, Nick, 18, is like any older brother, which is a good thing.
Even with support from family and friends, the Hoffners have accrued a lot of medical expenses and in order to make ends meet, Ginger has three part-time jobs and Marshall’s father, Mike, is a machinist.
In less than a week, they hope to be driving to Georgia and learning more about the disease characterized by its multiorgan dysfunction. They are also hoping for more answers to the many questions they still have.
Following the diagnosis four years ago, Ginger said, Marshall has not had the intensity of health issues like when he was 12.
She said she tries to focus on the small successes and not think to far into the future.
“The camp will be good for both of us,” she said.