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Support and praise for Dr. Susan Hayflick and her tireless efforts to assist families with NBIA came, literally, from around the world. That's why we were not surprised when she received the Art of Listening Award at the 2003 Genetic Alliance Conference in Washington, D.C. 

The award was created to celebrate those caring, receptive professionals who assist individuals and families living with genetic conditions. It also is designed to increase awareness of listening as an invaluable key to understanding and helping. 

Eleven NBIA families nominated Hayflick for the award and many echoed her willingness to always take time with them, answer their questions and give them a ray of hope at a difficult time. 

"As the young sister of a patient, I have known the disease since very early in my childhood," wrote a nominator from Brazil. "Fortunately, not too many people know the feeling of not having anywhere to turn, of having so many questions and nearly no answers. I do, though. …Not only does Dr. Hayflick seek a cure for NBIA, but she also reaches out and touches people who have been struggling with it, like I have. She gave us answers to our questions and solutions to our problems when no one seemed to be able to help. But she did more: she gave us hope." 

"Dr. Hayflick has gone all over the world listening to parents, gathering information, getting to know our children at conferences, talking to each of us individually and answering hundreds of questions, never seeming to tire even if it's the same old questions," wrote a nominator from Illinois. "I remember needing to talk to Dr. Hayflick during a rather difficult period just to reassure me about a question I had. I was amazed at her promptness and genuine concern in answering our call...We parents of special needs children live in a world most people would rather not enter, except people like Dr. Hayflick." 

And a nomination letter from Europe wrote: "We live in Poland, far away from the U.S., but we always feel Susan Hayflick is very close to us. We are absolutely sure she deserves this award." 

I was asked to present the award, and Angelika Klucken of Germany accepted it in Hayflick's absence and delivered her acceptance speech: 

"The recognition that comes with my receiving this award is deeply gratifying. Often the work itself is what keeps us toiling in medical research. For me, the connection to families whose lives are affected by our work is the driving force for my own motivation. 

Some days we feel as if we are making little progress, and often we are faced with immense frustrations that threaten to sap our energies. There are days when we need to stop to remember why we persist. But the answer is always easy to find. It's there in a photograph of Kim, in a painting by Dietmar, in a picture of an Amish horse and buggy. 

The painting by Dietmar, which hangs on my office wall, is of a snail traversing the top of a rainbow. The message to me is that the work is slow and often a great challenge, but with perseverance and determination we can achieve anything. The partnership between our OHSU/UCSF research team and the NBIA Disorders Association and all of its members is that snail. Together we will traverse the rainbow from discovery to cure." 

Imagine someone wants to enter a room but the door is closed. He doesn’t know what to do and goes away. Another man comes along, finds the door closed, and tries the door handle. The door, however, is locked. He also gives up. A third man finds a key, but it doesn’t fit. He loses hope and leaves. Finally, a fourth man looks for tools to make a key and considers getting others involved to help him. 

This story opened the Genetic Alliance 2003 Conference held in August in Arlington, Va. It reflects the situation that NBIA patients and caregivers find themselves in as they grapple with a disease that is rare and incurable. But it also demonstrates that each of us can become a ‘keymaker.’ We can contribute something to help find the key for a cure: a blood sample, the sharing of experiences with other affected individuals, a fundraising activity, taking care of someone affected with the disease or conducting professional research. 

We can also join patient support groups, such as the NBIA Disorders Association and Hoffnungsbaum e.V., a patient support group for NBIA families in Germany. And we can also get help from organizations such as the Genetic Alliance, which does advocacy on behalf of individuals with genetic conditions and works with more than 600 affiliated lay groups, as well as research and health care organizations. The alliance is a broad and inclusive coalition, working to serve the growing numbers of people identified with genetic diseases. One of the ways it does this is by providing mentoring and resources to lay group leaders, which, in turn, benefits their organizations and members. 

This conference was an excellent example of how that mentoring and resource sharing can be done, with much important information provided during presentations and workshops on a variety of topics. 

Keynote addresses by two international leaders in genomic science — Eric Lander, of  MIT’s Center for Genomic Research, and Francis Collins, director of the National Human Genome Research Institute at National Institutes of Health — were impressive and moving. Lander said the completion of the Human Genome Project has influenced research and advances in treatments. He used two genotypes of leukemia to make his point.

Collins said that the main task of genetic research is finding cures to alleviate suffering in human beings. He emphasized that collaboration is the magic word — the way to promote scientific progress. This collaboration between families, advocacy groups, physicians, researchers and the public health system needs to move forward with undiminished effort, while always keeping uppermost the well-being of patients. 

A workshop on Research Interventions and Treatments discussed strategies to accelerate research such as diagnostic testing and therapeutics. A vice president of a drug company was one of the speakers and he shared the need for high-quality data collection from lay advocacy groups. We should ask ourselves, he said, “How could helping them (the industry) help you?” Some answers are blood and tissue sample repositories; novel methods for encouraging cross-lab and cross-disease collaborations; and promoting rare diseases as gateways to understanding common diseases. We need to work together to create win/win situations so that a cure for our disease becomes a viable option industry can provide. 

One of the most beneficial aspects of this conference was the chance to network with many different groups, researchers, industry and government representatives. Opportunities abound to exchange information, ask questions and share experiences with other caring individuals who understand your circumstances.