He closed by saying, "Everyone's life is unique. We will all meet the ultimate challenge. Marfan is just another challenge we must face."
Brenda Siemer Scheider
Brenda expressed her thanks to all those who made the film possible, her fellow producers, the filmmakers, the families and the doctors. For her, the screening was a tense experience as she had worked to produce the film for two years since filming. She felt that everyone associated with the film -- the parents, children Ann Reinking and the doctors--were all geniuses. She closed by thanking the New York Academy of Sciences saying, "Science is art and art is science."
Dr. Dietz began by describing how much he had learned in seeing the film for the first time. He has worked with people with Marfan's for almost 30 years. The film gave him insight into how self-aware the children and adolescents that he treats are. In his experience, the young children focus on their Game Boys during the medical exams and the most response he gets from teenagers is "whatever" and "like really." To see them with each other and their families openly discussing their problems added a new dimension to his own understanding.
Dr. Dietz then discussed his work with Marfan's, a syndrome that has "defined [him] professionally and personally." In 1980, he discovered the alternations in the gene that produces the fibrillin protein, important for connective tissue strength. A question from one of the people he treats triggered the next phase of his work. "If all the connective tissues are weak," the patient asked, "then why are our bones so long and strong?"
Dr. Dietz began examining other features of the syndrome not related to weak connective tissue. Many could be explained if a growth promoting protein called TGF-beta was oversupplied in people with Marfan's. He found that, indeed, levels of TGF-beta are elevated in Marfan's, a consequence of a network of interactions between fibrillin and the growth promoting hormone. He wondered whether reducing the level of TGF-beta might help treat Marfan's. This idea was validated when it was found that antibodies that block TGF-beta eliminate symptoms in mice engineered to mimic the human syndrome.
It is fortunate that a drug used to lower blood pressure, losartan (the Merck drug Cozaar), also decreases levels of TGB-beta.
In what Dr. Dietz described as one of the most thrilling moments in his career, he found that Marfan mice treated with losartan were indistinguishable from normal mice. Treatment is effective for juvenile as well as adult mice. There is now hope for a treatment that will arrest and reverse many of the symptoms of Marfan syndrome, both in children and adults, using a drug already widely prescribed.
Dr. Lacro described the losartan trials he is coordinating. The effects of the drug are being studied in people with Marfan's from ages 6 months to 25 years. The progress of the symptoms is being closely measured in those treated with losartan as compared to those treated with another drug that lowers blood pressure. Each person will be followed for five years. The trial is now almost fully enrolled. Dr. Lacro thanked the National Marfan Foundation for their help in recruiting volunteers for the trial. He also acknowledged the contributions of the Pediatric Heart Network, created to identify children with heart problems that might benefit from experimental treatments.
This inspirational evening closed with informal discussions between the panelists and the audience over wine and cheese.