'In My Hands': A Film About Life With Marfan Syndrome

I strongly recommend that everyone see In My Hands, a powerful and moving documentary about people with Marfan syndrome. All of us either suffer from, or love someone, who as a result of the nature of accident, is living with a physical or mental problem. In My Hands is a powerful testament to human resilience and understanding, one that will help each of us with our own lives.

Instructions on how to obtain a copy of the film are provided by the website of the National Marfan Foundation.

The Event

This month, the New York Academy of Sciences hosted a screening and panel discussion of In My Hands. The panel discussion featured Ann Reinking, an actor-dancer whose teenage son has Marfan syndrome; the film maker Brenda Siemer Scheider, widow of Roy Scheider; Ben Carpenter, a Connecticut banker who has the syndrome; Hal Dietz of Johns Hopkins, a doctor specializing in the treatment of Marfan syndrome; and Ron Lacro of Harvard Medical School. Dr. Dietz discovered the gene variants underlying the syndrome and has developed a new approach to treatment using the drug losartan. With Dietz, Ron Lacro is coordinating the losartan trials. The panel discussion was moderated by Richard Murray, Vice President of U.S. Regional Medical Affairs at Merck. The event was presented in partnership with the National Marfan Foundation and Merck.

Marfan Syndrome

People with Marfan are typically tall with very long arms and legs, and long thin fingers and toes. The connective tissues throughout the body are weaker than normal. Some with Marfan have very flexible joints. Enlargement of the aorta where it joins the heart is the most serious consequence of the syndrome, as are defects in heart valves. If left untreated, aortic tears are likely to cause premature death either in childhood or young adulthood.

Drugs that lower blood pressure can slow aortic enlargement. Heart valve and aortic surgeries are also effective. Combined, these treatments can add many years to life. Hence the motto of the national Marfan Foundation:

Learn About It
Recognize It
Save a Life

Those with Marfan syndrome often experience other problems, including torn retinas, slippage of the lens in the eye, and spinal problems. The severity of the syndrome may vary widely even in siblings.

About 1 in 5,000 children is born with Marfan syndrome. The syndrome results from variation in the gene that produces a protein that strengthens connective tissues of the body. About 75 percent of the time, Marfan is inherited from a single parent. The trait for Marfan is dominant. Therefore, children born to an affected parent have a 50/50 chance of having the syndrome themselves. One quarter of the time Marfan syndrome results from spontaneous changes in the gene, as neither parent carries the variant. There is no single change in the gene that accounts for most of the syndrome; rather many different variants in the same gene are responsible. The variations in each family are unique to that family, accounting for some of the variability seen from person to person with the syndrome.

The Film

In My Hands documents two meetings of the National Marfan Foundation attended by people with Marfan syndrome, parents and physicians. We meet young children, teenagers and parents, observe annual check-ups, and listen to interviews with researchers. We listen to children talking to other children, parents sharing their experiences, and siblings helping each other.

We live the reality of Marfan's with each family. Adults and children alike share their experience, hopes and fears. Isolation dissolves to community as we watch. Children help other children, parents support each other. The aorta assumes a new, closely observed and powerful identity. Parents, children, and doctors closely monitor the extent of dilatation of the aortic root and openly discuss consequences. We feel the bravery of children as they consent to multiple invasive surgeries. These are not patients; they are people living with the reality of Marfan syndrome.

The focus of In My Hands is a dance workshop for children and teenagers with Marfan syndrome led by Ann Reinking. The workshop took place over three days followed by a performance.

We witness a hesitant beginning as dancers and choreographers begin to learn about each other. It is immediately evident that the children have bodies that lend themselves to beautiful expression through dance. Their arms and legs are exceptionally long and flexible. As the work progresses, we see confidence in each person's ability to dance grow. There is excitement in their realization that their movements are beautiful and graceful, that they can be successful in dance.

It is a privilege to watch Ms Reinking work. We see her understanding of the private struggles of each dancer. We wonder at her recognition of the inherent talents of the dancers. We witness the creation of new movements based on her observations of the dancer's daily activities. We share the excitement she transmits to each child. Each of us should be so lucky as to have her as our instructor.

The final performance is beautiful, moving and elegantly filmed. The dancers in black leotards perform in groups and duets. Clusters of waving arms resemble sea anemones. Professional dancers will envy the graceful extension and form of the duets. The dance, the process, the film are triumph.

Panel Discussion

Left to right lower: Ben Carpenter, Ron Lacro, Ann Reinking Upper: Emma Joan Morris, Brenda Siemer Scheider, Richard Murray, Hal Dietz

Ann Reinking

Ann Reinking opened the discussion. She was surprised how well her dancers performed. None had previous dance training. Most did not know one another before the workshops began. Self image was a problem, as those with Marfan look different from their peers. There were only three two-hour training sessions before the performance. Her dancers grew in self confidence and self appreciation. She told them, "If you were a Giacometti, you would be worth $100 million each." The dancers began to improvise themselves and delight in movement. The result was joyous.

She then discussed the implications of a diagnosis of Marfan's--how parents and children adapt to "loss of the idealized self." Children wonder, "I don't know who I am if I can't do what I imagine I should." In the film, a newly diagnosed adventurous young woman wonders who she is and how to define herself. Helping this young woman and others achieve self acceptance, as well as acceptance of other people's attitudes toward them, is critical for families. She advised people with Marfan's to visit museums and to appreciate all the different forms that are art. She said just as people with Marfan's must "find other ways to be themselves," so must each of us, as we go through life, learn how to be a different self. "I must tell you that we must all redefine ourselves anew several times in our lives." We all have "the opportunity to be another me."

Ben Carpenter

Ben Carpenter described his own experience with Marfan's. Seemingly healthy, at 35 he underwent emergency surgery for a torn aorta. At first, he assumed the event was an unfortunate one-off, like "a gunshot wound." On learning the diagnosis with his family members present, he realized his entire life would be different and fell into despair, "in an empty place [he] didn't know existed." He told his family he was fine and sent them off to dinner. By the time they returned to his bedside, he was ok. He realized his life was not over, that it would be different but he would be fine. It was as close to a religious experience as he could imagine. And his "life has been fine since."

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."

Hal Dietz

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.

Ron Lacro

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.