My name is Jordana Sontag and I am the mother of Jacob, born in February of 1996 and then six months later diagnosed with Canavan disease, a fatal neurological genetic disorder that affects the white matter of the brain. After being told Jacob would never hold up his head, sit, crawl, walk or say a single word, I was horrified to further learn that he would develop seizures, loose his ability to see, hear, swallow and would die within the first decade of his life. Even worse than the diagnosis, was the reality that there wasn’t a single treatment to save my baby.

Categorized as an “orphan disease”, I had quickly learned that Canavan affected few and lacked any large-scale research efforts. In short, saving my child meant committing myself to a crusade for a cure that included the search for research, aggressive fundraising efforts and generating the awareness necessary for seeking funds and gaining the support of influential contacts in both the political and medical communities.

Within a month of Jacob’s diagnosis, I had located researchers from Yale University and the Auckland School of Medicine who had successfully treated two Canavan children with gene-therapy (in New Zealand) and were planning to treat 15 Canavan children (some of which are here with us today) in a US Phase 1 Clinical Safety Trial. Following a lengthy review process through the NIH, FDA and the Internal Review Boards at Yale, Jacob was treated in January of 1998 and treated once more in September 1998. Jacob showed dramatic improvements, but most impressive was his ability to generate new white matter in his brain. And, he was one of four treated Canavan children to do so.

Presently, all of the Canavan children that sit before you today have been waiting since May of 2000 for the approval of yet another gene-therapy protocol that according to the researchers is safer, less toxic and technologically advanced. Where the prior therapy successfully reached a few areas of the brain, data indicates that the new procedure will deliver the gene, critical in saving these children, to all the areas of the brain.

With federal funding for Canavan scarce and federal grant applications by researchers continually denied, parents have been solely responsible for funding therapeutic research. Since 1994, parental efforts have raised an estimated 2.5 million dollars towards research in the patho-physiology of Canavan, gene-therapy, the creation of animal models and approaches in the areas of pharmacological, enzymatic and neural stem cell transplantation.

Clearly, great strides have been achieved. Not only have the lives of Canavan children been lengthened, their quality of lives have been enhanced. Equally important is the application of what has already been learned to other more common brain disorders like Parkinson’s, MS and ALS. It is the one enzyme deficiency and single gene defect of Canavan disease that appeals to researchers and makes a cure a tangible reality if funding were available.

With great achievements, the momentum of therapeutic research in Canavan is quickly moving ahead towards a cure, but costs have vastly increased because of staffing requirements, materials, equipment and clinical costs. The estimated budget for the next three years is a staggering 7 million dollars, a task too large for the parents of dying children who must also care for and manage the day-to-day therapeutic, educational and medical needs of typical Canavan children.

With the assistance of federal support, therapeutic research in Canavan disease that can help the children dying before you today can continue. Without this much needed support, research may cease or most definitely move along at a snails pace if only to rely on the efforts of parental fund-raising.

Without federal funding, children with Canavan will continue to die and any scientific gains that have already been achieved will have been wasted, throwing away any knowledge already achieved towards a cure for this devastating disorder and other brain diseases that look to Canavan as a model.

In closing, myself and the other families here today are in outspoken support of the federal funding of stem cell research. We hope that the amazing potential of this crucial research will prevail in spite of political agendas. These beautiful children are here living with us today and they are loved dearly. They are innocent victims of Canavan, but do not have to be the victims of political battles that will freeze or deny access to life saving treatments. In short, stem cells may reverse the death sentences these children have all been born with, while simultaneously giving them the opportunity to develop and function independently.

I hope that my testimony will serve as a request, but more suitably, a desperate plea for this committee to earmark federal funding for the support of existing therapeutic research in Canavan disease. For myself and the other families before you today, traveling with a Canavan child is no easy task, but perhaps our united presences will provide this committee with the sense of urgency in which my request is made.

I thank all of the distinguished members of this committee for the opportunity to testify today, but most importantly, I thank you for allowing me to share with you what is most precious to me, my beautiful boy, Jacob.