Jacob with his mom (Jordana) and step-dad (Gareth)

In September of 2000, I created Jacob’s Cure, a non-profit foundation, because of my passion to save the life of my son, Jacob, who is afflicted with Canavan disease, a devastating genetic brain disorder. Because of an enzyme deficiency, Canavan demyelinates the brain. Without myelin or white matter, Jacob never reached his first milestone...lifting his head. He is essentially trapped in his body. Without intervention, Jacob will lose his sight, his ability to swallow, may be stricken with seizures, become too weak to fight off illness and die within the first decade of his life.

In 1998, my efforts resulted in Jacob’s enrollment in a Phase 1 Gene-Therapy Clinical Safety Trial. Jacob, along with 14 other Canavan children exhibited positive results and miraculously, Jacob developed new myelin. There was now hope where none existed before.

With these exciting results, it is my goal and that of Jacob’s Cure to continue to support the continuation and advancement of research in gene-therapy, as well as the support of neural stem cell transplantation that has exhibited great hope in curing Canavan and most brain disorders because of the unique ability of stem cells to provide what the brain is lacking, while also repairing any damage that has already occurred.

Because Canavan is so rare, federal funding has been scarce towards therapeutic research in Canavan disease, so it is through the help of friends, family and a philanthropic community that Jacob and children like him may be cured.

Jacob, mom and Maureen Burke (Jacob's nurse) enjoy the butterflies at the Museum of Natural History

For one year, Jacob and 24 other children suffering from Canavan waited helplessly for the approval of an advanced gene-therapy procedure that had fallen victim to a lengthy FDA review process that had begun in May 2000. In April of 2001, the approval was finally received and Jacob underwent this critical procedure on July 10th, 2001. The results have been dramatic. Miraculously, Jacob again developed more myelin. He has gained significant weight, his eyesight has improved, and he is stronger and is using his vocalizations to communicate. Other families of treated Canavan children report the same findings.

In addition to raising awareness and funds for research, I have begun a campaign to elicit the support of federal funding for Canavan disease. Categorized as an orphan disease, federal funding for Canavan has been scarce and federal grant applications by researchers continually denied. It has been the sole result of parental fund-raising since 1994 that has funded an estimated 2.5 million dollars towards therapeutic research. On March 15th, I was invited to testify before the House Sub-Committee on Labor, Health, Human Services and Education. As a result of my passionate pleas and additional lobbying with House and Senate delegation, the NIH approved a grant to support the existing gene-therapy research project and clinical trial underway at Robert Wood Johnson/Cooper Hospital in Camden, NJ. The amount of funding has yet to be announced.

Jacob celebrates his 6th Birthday

With great achievements, not only have the lives of Canavan children been lengthened, but also simultaneously, quality of life has 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. The momentum of research is quickly moving ahead towards a cure, but costs have vastly increased because of staffing requirements, materials, equipment and clinical costs. Estimated budgetary cost 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 further support (both public and private), research that can help the children dying today will 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. Children afflicted 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 diseases that look to Canavan as a model.

Jacob and mom celebrate Halloween