⁈e was kind of unusual, †says his wife Katherine N. Clapp ‸2. Her first memories of Tranfaglia include a characteristic Marine Corps haircut acquired during a summer spent in boot camp ust for an experience, †and another summer souvenir single sunburned side picked up during a cross-country bike trip and debuted the following fall.
While at Harvard, Tranfaglia kept himself busy with a concentration in biology, an unofficial minor in psychology, and a host of extracurricular sporting activities.
 Michael R. Tranfaglia '82 |
He says he was a young man with no reat aspirations †as a collegiate, simply wishing to become a small town psychiatrist with a comfortable middle class life. However, he says, those modest plans umped the tracks big time †about 10 years after commencement, when Tranfaglia and Clapp learned in 1992 that their first child, Andrew, had Fragile X syndrome.
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A FRAGILE X FOUNDATION
Tranfaglia and Clapp were left frustrated as they brought a then three-year-old Andrew from pediatrician to pediatricianepeatedly failing to find someone who could successfully diagnose their son developmental problems. Though the doctors tested Andrew for a number of conditions, none of these preliminary screenings could provide the answers the family was looking for.
⁆ragile X is probably the first thing they should have tested for, but it really was missed in the first couple of passes, †Tranfaglia says.
For a genetic disorder, Fragile X is quite commonffecting one in 4,000 males and one in 6,000 femalesays Tranfaglia. However, he says, at the time, familiarity with it was limited even in medical circles.
Upon receiving the Fragile X diagnosis, Clapp and Tranfaglia set out to educate themselves about the disorder.
⁉ a psychiatrist, so I had heard of [Fragile X], but I had never actually seen a patient with it, †Tranfaglia says. ⁉n textbooks, mentions were so brief that they were almost meaningless...I had heard the term bandied about, but not discussed in any meaningful way. †
Yet the more Tranfaglia and his wife learned about the disorder, the more compelled they felt to help address this gap in knowledge.
The couple, with the help of Kathy May (another Fragile X parent), founded FRAXA in 1994, a nonprofit foundation that aims to broaden biomedical research efforts dedicated to finding better treatments and possibly a cure for Fragile X, says Tranfaglia.
Since its founding, FRAXA has capitalized upon technological advances ranging from the booming biotech industry to the advent of the internet, allowing it to develop a large but diffuse community of Fragile X parents and researchers dedicated to the study of the disorder.
According to Tranfaglia, in the early 1990s the idea that the disorder could be treated at all was controversial, as its main symptom is mental retardation. With mental retardation commonly perceived as irreversible and largely untreatable, many are reluctant to seek medical treatment for it, Trafaglia explains. Many are inclined to view Fragile X as ust the way these kids are, †he saysn inclination FRAXA looks to combat.
SEARCHING FOR A CURE
FRAXA gathers donations primarily from personal contacts of Fragile X relatives, andn turnonsiders research proposals submitted by scientists looking to receive these funds from the organization.
Proposals are reviewed by the foundation volunteer Scientific Advisory Board body made up of 20 prominent scientists, including Harvard Provost Steven E. Hyman. The board claims three Nobel Laureates⁊ames Watson, Eric Kandel, and Susumu Tonegawamong its members, as well as everal future winners, †says Tranfaglia.
⁗e⁶e been so successful on the science that wee in a phase now where wee transitioning; raising the bar on what wel fund, †Tranfaglia says. ⁗ee only funding translation research...designed to translate basic science findings into clinical applications. †
He adds that a goal for the near future is to work closely with pharmaceutical groups to develop actual treatments for the disorder and bring them to clinical trial.
Fragile X is caused by a mutation of the FMR1 gene on the X chromosome. The gene regulates synaptic plasticity in the brain⁴he ability for neural connections in the brain to adapt over time as a result of experience. Plasticity is thought to be especially important in the areas of learning and memory.
A possible solution to the disorder⁴he replacement of the defective gene with a normal copyas proven difficult to make a reality, as scientists have yet to find a way to physically place a new copy of the gene into brain cells.
At present, FRAXA-funded researchers have made progress in identifying the signaling pathways in the brain that are disrupted because of Fragile X-caused genetic mutations. If these disrupted pathways can be brought back to normal with drug treatment, a wide array of autism spectrum disorders that share in their pathology this interrupted signaling pathway may be treatable.
⁁utism folks are skeptical that [Fragile X and autism] are related, but as a psychiatrist, the first thing you realize is that there are a lot of people who look and act like they have Fragile X, but don⁴ have it, †Tranfaglia says. ⁂y identifying this pathway, we can also identify ways of testing those other folks to see who might respond to those same treatments. †
A GLASS HALF FULL
Since FRAXA founding, Fragile X ertainly has become better known and better understood in some circles, †Tranfaglia says. Pediatricians are diagnosing the condition earlier and special education specialists are better understanding how to address it, he says.
Nevertheless, Fragile X still has yet to receive the public address it may warrant, in large part because of the overarching stigma associated with mental retardation, Tranfaglia says.
⁔here really is a bias against mental retardation, and that bias is actually more common in the higher strata of society than in the general population, †he says. ⁉ know of other physicians and psychiatrists who have kids with Fragile X, and they don⁴ want to step forward and be counted because theye afraid of the stigma, that it somehow reflects badly on them. †
As a result of his experiences, Tranfaglia advises current undergraduates to ⁰ush themselves in ways they might not expect. †
⁄on⁴ be afraid to try, even if youe not great at it, †he says. ⁙ou have to be flexible, adaptable, able to take on new challenges. †
Clapp recalls how her husband always pushed the boundaries. Their first real date, she says, was an 85-mile biking trip to a cabin in New Hampshire.
⁈e liked adventures like that, †she says.
Former roommate Jeffrey T. Wu ‸2 recalls a young man that always seemed to take things in stride, citing Tranfaglia appreciation of dining hall food amidst a sea of complaint from peers. Classmates always ot a kick out of Mike because he was so unfussy, †Wu says. ⁈e would always say ⁍mm...not bad.”†
⁉ think he has approached a lot of his life that waye was a glass-half-full sort of person, and that has carried over to what he has done, †Wu says. ⁗hen Mike and Katie learned what Andy was up against, a lot of people would have felt bad for themselves, and seen obstaclesnd I sure he did see those at firstut what he also saw was opportunity to do something significant. †
A FAMILY MAN
Tranfaglia, Clapp, and their two children⁁ndrew, 17, and Laura, 15ive about 40 miles outside of Boston in West Newbury.
According to Laura Tranfaglia, her father is mart, † elpful, †and lways seems to be right. †She says her father is also quite the multitalented individual⁷ith interests ranging from carpentry to cooking to playing with remote controlled cars with his son.
Laura Tranfaglia says that in his downtime, her father can often be found watching ⁍ythbusters †or playing fighter-jet computer games.
⁈e wanted to be a pilot, but decided to be a doctor instead, †she says. ⁉t ironic because he would be killing people as a fighter pilot, but instead he saving people. †
Though living with a brother with Fragile X has been tough at times, Laura Tranfaglia says, medical advancements and the simple passage of time have made her brother condition more manageable.
⁉ guess I really wouldn⁴ understand people like him as much⁉ wouldn⁴ see them as as normal as I do now, †she says.
Also, she jokes, ⁉t the reason why I have an ⁁†in biology. †
⁓taff writer Aditi Balakrishna can be reached at balakris@fas.harvard.edu.