Letter from Dr. Nancy Wexler of the Hereditary Disease Foundation to Claire Wallerstein, Journalist

"Today we are learning the language in which God created life," President Clinton said at a White House ceremony heralding an unprecedented scientific achievement. Prime Minister Tony Blair of Great Britain participated by satellite as the two world leaders introduced Dr. James B. Watson, co-discoverer of the structure of DNA, Dr. Francis S. Collins, Director of the National Human Genome Research Institute and head of the public consortium, together with Dr. J. Craig Venter, President of Celera Genomics, to announce an achievement unimaginable even a short while ago. On this date, the two groups announced that they had deciphered "the hereditary script, the set of genetic instructions that defines the human organism." The achievement was heralded as representing "a pinnacle of human self-knowledge," greater than landing on the moon - akin to the discovery of the atom, taming the destructive power of fire for creative uses, the invention of the wheel, deciphering the Rosetta stone and discovery of language. What lays before us is a revelation that it will take the next millennium to comprehend fully, as we delve deeper and deeper into the soul of our cells - understanding the messages contained there in a language hitherto obscure.

The pomp and circumstance of the White House announcement was the crescendo of waves launched years ago and miles away. As far away from the glitter and glory as could be imagined, a handful of people watched the announcement on a flickering black and white TV. They live in Venezuela in tiny fishing villages lining the shores of Lake Maracaibo. They are poor fishermen living in tin, one-roomed shacks, three feet by three feet, 18 people crowded together on a dirt floor.

Their arms, legs and torso contort and their faces writhe and grimace with the uncontrollable movements of Huntington's disease. Their cognition and mood are attacked as well by the minute changes in DNA that results in this devastating disorder. 500 people are suffering from this disorder. As many more have the time bomb lurking in their DNA, primed to be triggered by a mysterious clock usually when they are 30 years old, but sometimes 2 years or 80 years of age. They try as best they can to care for their ill relatives, but they are often overwhelmed by entire families of 10 to 14 more siblings suffering from this devastating disorder.

What does Huntington's disease have to do with the Human Genome Project? At the end of the 1970s and the beginning of the 1980s, this extended family of thousands of people enthusiastically participated in the first study ever to use DNA markers to identify a disease gene. Shockingly, against all odds, a marker for the Huntington's disease gene was discovered by studying the DNA and clinical examinations of this remarkably cooperative and generous family. The HD gene was found to be on the top of chromosome four. It was the first time that looking for a genem using the DNA marker, was successful! And the achievement meant that this strategy could work for anyone looking for any gene causing a disease - or even genes predisposing to normality. The doubters, the nay-sayers, were suddenly silenced by the headlines that took front-page notice in 1983 - "Huntington's Disease Gene Localized by New DNA Strategy!"

The science these remarkable people helped to launch has only become more and more powerful, while the plight of these individuals is ever more perilous. Running sewage floods their homes when drainage ditches overflow with green flourescent algae, trash, and the detritus of a neglected village. Little children run barefoot through the barbed wire and pollution, suffering from malnutrition and parasites. Generation after generation is being decimated by this implacable and devastatingly fatal gene.

Ten years ago, the government in office in the state of Zulia, where Maracaibo is located, responded to urgent pleas from families and the research team for improved shelter, food and medicines for these meritorious families who had contributed so much to changing the face of the world. Over the next decade, in fits and starts, paralyzed for years and then resuscitated, a clinic/ nursing home was constructed. Then, in the last year, the miracle occurred and family members were invited to participate in the inauguration of the "Casa Hogar - Corea de Huntington, Amor y Fe," or "Huntington's Chorea Home of Love and Faith" - love because that is the first medicine for patients and faith in God and science to find the cure. From living in the streets, glass shards embedded in their feet so that each uncontrolled movement, shredded their clothes, and hammocks. People with HD are now living in clean beds, in clean clothes and in a clean environment. From starving to death, begging for handouts in the streets, people with Huntington's disease are eating seven meals a day.

There are medicines and most importantly, there is love. But the Casa Hogar closed the very day it opened because there is no money to run it. Finally a few generous private donations were found to open the doors and permit it to function. But in less than a year, the fate of everyone in the Casa Hogar is in jeopardy. There is no money for food, for medicines, for staff and dwindling hope that resources will be quickly found.

The fate of these people is tenuous. This should hardly be their recompense after giving so much to the world through their open and generous collaboration.

The Casa Hogar has enormous potential for continuing research, if money can be found to sustain its infrastructure and the lives of those entrusted to it. As a model program, able to teach families, scientists, physicians, people everywhere, the Casa Hogar is unparalleled. As a venue where new treatments can be tried as soon they are discovered, the Casa Hogar is unequaled. As a safe haven, the Casa Hogar is a necessity!

Those in the Casa Hogar watching on television the culmination of what they, themselves, have launched could only smile in anticipation that these discoveries could hasten home a treatment and cure for their children and grandchildren - if it cannot come in time for them. The length of double helix tying these poor souls from Maracaibo to the Washington White House and London's 10 Downing Street is shorter than the amount of DNA found in any one genome. But the tie that binds them together should be stronger, the debt should be honored and a better future should be returned to them from Europe, the United States and around the world.

They helped start a vision and a promise of a better future for all of us - and they deserve their own!

To contribute to those at Casa Hogar who've provided so much to us please send your donation with a note that the donation is for the purpose of supporting Casa Hogar to:

The Hereditary Disease Foundation
1303 Pico Blvd.
Santa Monica, CA 90405-1553
USA

Voice: (310) 450-9913
Fax: (310) 450-9532
Email: cures@hdfoundation.org
WWW: www.hdfoundation.org

- published September 15, 2000