When 11-year-old fraternal twins Colin and Ian Smith were born, Colin had heart failure. Doctors at Norwalk Hospital had to save him from dilated cardiomyopathy, a condition where the heart muscle is enlarged.
"We were told at that point that a third of the kids get better," said their father, Jeff Smith. "And ours did."
But at 3-and-a-half years old, an electroretinography test determined Colin and Ian had vision problems.
"We found out they had no color function all together," Jeff said, adding that they started wearing red tinted glasses to help filter the light.
"Colin did; Ian refused," he said last week at their Darien home. "That's when we found out they might have Alström."
Colin and Ian are two of only 800 people worldwide who have Alström Syndrome, a rare genetic disease caused by a change in the gene ALMS1. The disease can cause vision and hearing problems, insulin resistance, diabetes, obesity and learning disabilities over time.
"They started doing testing free, but they didn't find any mutations," Jeff said.
"We thought they had a couple of different things," Joanne said. "You can't definitively say what it is until you do the genetic testing. We really just found out last July."
"He didn't think they had it because they weren't obese," Joanne said.
Colin and Ian are two out of six patients who are not obese.
Jeff added, "They call it idiopathic, which is medical term for `we don't know.' Now we know what it is. When we went to (Levin) last year, it was devastating. And we've been digging out of this hole ever since."
"It's confirmed, but they have slightly different mutations," Joanne said. "The things that are affecting you for Alström affect you in different ways."
Jeff and Joanne told Colin and Ian after a vacation in September that they have Alström Syndrome.
"Our boys know they have it and generally know what goes wrong," she said.
"Anything can pop up," Colin said. "At one point you could have perfect hearing, then you can go deaf."
In fact, Ian started losing his hearing ability recently and has been wearing hearing aides for the last two weeks.
"The typical kid [with Alström Syndrome] is profoundly deaf," Jeff said. "Nobody has everything."
Jan Marshall, chairwoman of the Scientific Advisory Board for Alström Syndrome International (ASI), said the ALMS1 gene affects every organ in the body.
"Way back when, it was something I had no idea about, and I looked at it and realized it was quite an amazing and devastating disorder," Marshall said. "Alström itself was first described in the medical literature in 1959. It wasn't as well known, for sure."
Since 1992, Marshall has worked in Jackson Lab, where Colin and Ian were initially tested for the Alström gene.
"I was actually studying heart disease," she said. "I was at our local genetics counseling center and I was looking for families who were segregate for heart disease. I found a family that was diagnosed with Alström disease. So I decided we should find more families, and we found five more families, and they were all from the Nova Scotia area."
Marshall said her group of scientists at Jackson Laboratory discovered the ALMS1 gene in human chromosome 2 back in 2002.
"Since then, the Jackson lab cloned the gene," she said. "Then I got to know the families, and there was absolutely no support for these families."
Part of Marshall's role, she said, is identifying new patients and doctors capable of treating them.
"It's a case, if you don't look, you don't find, and we're identifying patients every week," she said.
Executive Director of ASI and Marshall's husband Robin added, "If a kid with heart failure in Australia has a doctor who knows nothing about Alström, we just hook that doctor up with one of our cardiologists in England. And that's happened more times than I can count."
Robin said their job at ASI is 24 hours a day, seven days a week; he speaks with some patients two or three times a week.
"We put out lots and lots of material," he said. "We have contacts in pretty much every country. We have a remarkable scientific advisory board. Instead of being names on a letterhead, every single person on our letterhead has been to every one of our conferences."
ASI holds a national conference every three years and annual regional conferences.
"We eat breakfast, lunch and dinner together for three days," he said of the conference attendees. "For many people, they come to a conference and it's the first time they've seen someone with Alström Syndrome. It's the first time they've talked to a doctor about Alström Syndrome."
Robin described Alström as "complex."
"It's an array of strange things that happen," he said. "The symptoms are pretty terrible, but they don't manifest right away. You have to know what's happening. You have to know what might happen in order to test properly. Our kids can get diabetes at age 4. Nobody's looking for diabetes in a 4-year-old."
Robin said the longevity of Alström patients varies.
"We have kids in their 20s, 30s, 40s and 50s," he said. "Some kids get every possible thing and then some. Some kids get eight or nine things. Over time we've lost an awful lot of kids who were infants."
Yet, Robin said, he is amazed by their resilience.
"If you talk about nature and nurture, everything in these kids' lives is hard," he said. "Some of them just feel absolutely crappy every day. And yet, they go out and achieve every day. Some of them have multiple degrees. Some of them go out and advocate in front of their legislators. It's endless, and they're fun to be with. They have a really well-developed sense of humor and it takes a lot of people aback."
Jeff and Joanne, who attended an ASI conference in Georgia, agreed.
"Every one of them, they're incredible people" Jeff said. "They're fearless."
Colin and Ian have not met other Alström patients, but will have the chance when they attend the ASI conference in Plymouth, Mass., next May.
"The kids have been phenomenal through all of this," Joanne said. "For any child with any kind of physical challenge, it's exerting a lot of energy. It's a lot of stress. They tend to surprise me."
Colin and Ian go to Hindley Elementary School; next year they will be in the sixth grade at Middlesex Middle School. Like their peers, they attend art class and social studies -- those are among Colin's favorite classes. In band, Ian plays the piano and Colin plays the trumpet.
"Their peers are great," Jeff said. "They've never been teased."
Colin and Ian agreed, with one exception.
"Every year in school, everybody keeps asking, `Why do you keep blinking?'" Colin said. "After a while I just stopped answering."
"Say it's to control the light," Joanne said to Colin. "That's what you should tell them."
Unlike some other students, Colin and Ian take a class to learn Braille. They are both legally blind with 20/400 vision.
"What we can see at 400 feet, it would need to be 20 feet for them," Joanne said. "Ian's peripheral vision is much smaller and a lot tighter than Colin's."
They have partial vision and Ian blinks more than Colin. For both of them, reading requires enlarged fonts and, when watching classroom presentations, they sit at the front of the classroom. When facing a bright light, it is hard for them to see anything but brightness.
"I prefer white on black," Colin said.
"It's been interesting finding out how they can see," Jeff said. "The only way I can think to describe it is low resolution."
Colin and Ian also cannot participate in gym class activities that require them to see objects in the air that are coming toward them.
"Gym in middle school is very sports oriented," Jeff told them. "You're going to do a fitness program."
However, Colin and Ian said they don't have trouble finding their way around.
"Except in middle school," Ian said. "We're going to need a map."
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