Personal Tragedy Calls Parents to Action

Dec 09, 2014

Personal Tragedy Calls Parents to Action

By Meaghan Casey

Fifteen years ago, when cousins Cameron and Hayden Lord were diagnosed with infantile Tay-Sachs disease within three weeks of each other, the prognosis was devastating: no treatment, no cure.

Cameron was 6-months-old. Hayden was 18-months-old.

“The diagnosis of infantile Tay-Sachs was a death sentence,” said Cameron’s mother, Blyth Lord. “Little was happening in research and we knew there was absolutely no hope in the babies’ lifetimes.”

A rare genetic disorder caused by the absence of betahexosaminidase (Hex-A), Tay-Sachs disease progressively destroys nerve cells in the brain and spinal cord. As the disease progresses, affected children experience seizures, vision and hearing loss, intellectual disability and paralysis.

Because Tay-Sachs is an autosomal recessive disorder, both parents must be carriers for a child to be affected. Lord carried the Ashkenazi Jewish mutation. Her husband, Charlie, and his identical twin, Tim, had a mutation that had never been seen before, and Tim’s wife, Alison, carried what is increasingly recognized as an Irish mutation.

“The likelihood of these two brothers marrying carriers and having affected children was a statistical near-impossibility, but it happened: two brothers, two wives and two babies affected with a rare disease who would both die before their third birthdays,” said Lord.

Hayden died in December 2000 and Cameron died five months later, four days after her second birthday. In the months that followed, the four parents and six grandparents decided to start a foundation in memory of the children. Their goal was to decrease the incidence of lysosomal storage diseases, like Tay- Sachs, and leukodystrophies through medical research, and to increase the quality of emotional, spiritual and medical care for families facing these diseases.

“It’s common, as part of the bereavement process, to want to do something to establish a child’s legacy,” said Lord. “We were not different. As we moved through our grief, we wanted to do something in their name. We also believed something more had to come of their lives — and the extreme experience we had as a family. In some ways, it felt like a calling.”

Launched in 2001, the Cameron and Hayden Lord Foundation funds medical research, pediatric palliative care research and programs, and bereavement support for children and their families.

“Figuring out how to approach funding medical research was the hardest piece for us,” said Lord, who serves as executive director of the foundation. She is also the founder and executive director of the Courageous Parents Network, an organization that provides parents with the skills, tools and virtual support they need to cope during their child’s illness.

“None of us had a science or research background and we struggled those first few years to release well-articulated RFPs that might make a difference and to then review and select promising proposals,” she continued. “Plus our annual grant for research, while impressive for a family foundation in its infancy, wasn’t big enough to pack much of a punch on its own. We needed a better way.”

The way presented itself in 2002 when the National Tay- Sachs and Allied Diseases Association (NTSAD) founded its Research Initiative to provide mezzanine funding to small-seed research projects. The Lord Foundation hitched its annual funding to the Research Initiative, and has renewed that partnership every year.

“The strategic benefits of pooling our annual medical research grants with NTSAD are many, the most important one being that it enables the foundation to make highly informed investments in research that can have bigger possible impact,” said Lord.

The promise of this strategy was affirmed several years later, when the Research Initiative helped launch the Tay-Sachs Gene Therapy Consortium — an international collaborative of scientists experienced in gene therapy and disease research. The consortium went on to receive $3.5 million from the NIH for translational research towards delivering the missing gene to the brain and has since shown excellent results in animal models and is driving toward Phase 1 human clinical trials.

Although there is still no treatment for Tay-Sachs or Sandhoff or Canavan’s disease, NTSAD is readying itself for that day by aligning itself with pharmaceutical companies such as Genzyme, Good Start, Shire, Agios and Audentes. The association recently formed a Corporate Advisory Council to bring in the biotech and pharmaceutical expertise necessary to help it identify these options, advance the research agenda, and position itself as an attractive partner to industry.

“It’s incredibly exciting to see the progress, and to know that our foundation has played a significant role in making it possible,” said Lord. “It’s surreal to be on the threshold of a treatment for a disease when it doesn’t feel like very long ago we were receiving the hopeless diagnosis for our children.” Though it is bittersweet for those families, like the Lords, who did not or will not benefit in time, Lord is quick to point out the silver lining.

“In the Tay-Sachs community, parents really understand that it’s about the future, and that’s kind of beautiful,” she said. “Every new child becomes a kindred spirit and you would do anything to help. I’m grateful to live in an age where family stories and personal tragedy can find allies in industry and make the world a better place for those that follow.”

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