Recently, someone posed a question that made me think hard about the immediate relevance of our research to those affected by autism. I had been explaining Autism Speaks’ new focus on developing medicines that, one day, will target autism’s core symptoms in ways that reduce disabilities and improve learning abilities. Someone commented that this would likely take years to accomplish. I had to agree. His follow-up question: So, how does research help families today?
For the answer, I found myself thinking about how the Cystic Fibrosis Foundation faced this same question decades ago. Like Autism Speaks, the Cystic Fibrosis Foundation was grappling with a disorder in its medical infancy. Cystic fibrosis was defined as a medical condition in 1938. The Foundation followed in 1955. At that time, the median age of survival for those affected by the disorder was just ten years.
The leadership of the Cystic Fibrosis Foundation knew they were grappling with a complex disorder that would take years to fully understand. So they developed parallel research efforts. One focused on the immediate development of improved diagnosis and treatments that could ease symptoms. The other focused on basic science with the goal of ultimately revolutionizing treatment with therapies that target the disorder’s root causes.
Their short-term efforts included support for a network of clinical care and research centers, a patient registry and studies that focused on improving treatment of chronic symptoms and associated medical conditions. Within a relatively short time, diagnostic methods improved and physicians began adopting new gold-standard practices, including new methods for fighting lung infections and improving lung function – all made possible through research that the Cystic Fibrosis Foundation helped support. The median age of survival jumped from 10 years to 37 years!
Meanwhile, long-term research efforts focused on understanding the causes and biology of cystic fibrosis. In 1989, scientists made major breakthroughs in genetic understanding. This, in turn, led to tremendous insights into the disorder’s underlying biology. Then, just last week, the FDA approved the first drug to treat the underlying cause of cystic fibrosis, rather than its symptoms. One doctor described how his patient was able to “shovel snow for the first time.” Not coincidentally, the Cystic Fibrosis Foundation had contributed millions of dollars to the development of this drug (Kalydeco). Its early funding had been essential to convince drug companies to make the larger financial investment needed to bring any successful drug to market. In the process, the foundation negotiated a deal to earn drug royalties, which will now be reinvested in further research advancements. Just as exciting, other “disease-modifying” cystic fibrosis drugs are moving through the research pipeline.
This is the same strategy that Autism Speaks is taking with investments in both research that improves quality of life in the short term and longer-term research that promises to transform how autism is treated.
Here are just a few examples of funded research projects with the potential to improve quality of life in the near future:
- Identification of preventable environmental risk factors for autism spectrum disorder (ASD)
- Validation of questionnaires that pediatricians can use to screen babies for ASD and, so, offer earlier intervention that will improve outcomes
- Biomarkers (e.g. immune alterations) that could identify infants at risk for ASD
- Development of effective early interventions for babies before the full syndrome develops
- Support of technological inventions to enhance communication in nonverbal persons
- Development of physician guidelines for assessment and treatment of medical conditions associated with ASD
- Development of more effective treatments for associated conditions, including sleep disturbances, GI disorders, seizures and anxiety
- Development of interventions to improve employment success and relationship skills in adults
- Development of cognitive rehabilitation interventions for adults
Even as we support the development of these improved services, we are also investing in research that can identify the most effective ways to broadly implement new gold-standard practices to produce positive changes in community healthcare, education and support services for all persons who struggle with autism. This type of “dissemination research” also tells us how to best target limited resources.
Meanwhile, our long-term investments are advancing the understanding of autism’s underlying biology and the genetic and environmental factors that contribute to its development. These investments are exploring the role of the immune system, brain signaling pathways and the GI system, among other topics. Over the last five years, tremendous progress in these areas has advanced research to the point where we are now collaborating with industry to develop novel drugs with the potential to ease severe and disabling core symptoms – in adults as well as children. Fortunately, the tools we have available today will make drug discovery and development much faster than before.
Connecting the dots
At Autism Speaks, the research we fund interconnects with all parts of our mission, including awareness, advocacy and family services. Our awareness campaign, for example, is shaped by research that has revealed great disparities in access to services by communities such as ethnic-minority and low-income families.
Our advocacy of insurance reform, in turn, critically depends on research that demonstrates how early intervention improves outcomes. Research also plays a critical role in bolstering our advocacy for adolescents and adults. For example, a recent study demonstrated that adults with ASD face greater challenges in employment and social participation than do adults with other common disabilities. More importantly, this same study suggests that providing transition services immediately after high school is the most cost effective way to improve outcomes. We can use this information to advocate for improved services during the transition from high school to adulthood. Other currently funded studies promise to help us advance insurance reform to assure coverage of other interventions with proven benefits for school-age children and adults.
Similarly, Autism Speaks is funding research aimed at determining the real-world effects of proposed changes in the diagnostic criteria for autism. Will these new criteria exclude people previously diagnosed with ASD? Will they affect access to vital services? These answers will be crucial to our ability to advocate for any necessary changes in the proposed criteria.
While we see our research improving lives now, we remain committed to our long-term goals of revolutionizing treatment of ASD. I know in my heart that someday we will be making the kind of breathtaking announcement that we heard from the Cystic Fibrosis Foundation last week. The day is coming. In the meantime, we will ensure that our scientific mission remains relevant to our families today.
Chief Science Officer, Autism Speaks
This is a guest post by Judith Ursitti. Judith is Regional Director of State Advocacy Relations at Autism Speaks and has been involved in advocacy since her son Jack’s autism diagnosis almost five years ago.
It was the time of day when I generally start to fade. The sun was setting, and I felt certain that my family, like most others, was probably sitting down to dinner right about now. Ron Marcellus, autism dad, and co-chair of the insurance committee of the Vermont Autism Task Force, and I were the final, weary two, sitting in the empty gallery of the Vermont House of Representatives in Montpelier.
It had been a marathon of a day. The autism insurance bill (S. 262) that we had been working on for months was destined to be sent to the place lawmakers send things when they don’t have the wherewithal to say “No”…
But Ron and his fellow Vermont advocates weren’t ready to give up just yet. So they made one last heartfelt push, and found a group of receptive legislators in the Vermont House Health and Welfare Committee. These dedicated stakeholders worked the halls of the capitol all day, educating legislators, spouting the numbers, personalizing the need, hoping for a miracle. After staying as long as they could manage, they had to get home to their families.
And so here we were. Just Ron and me, sitting in the gallery, waiting anxiously to see what the future held for S. 262. When our moment finally arrived, we both leaned forward and held our breath.
Would enough of the legislators understand the need for this sort of legislation? Would they understand it from both a fiscal and moral perspective? Would they truly recognize the discrimination? Would they believe in the potential of people with ASD? I swallowed the lump in my throat. Only time would tell.
The Speaker agreed to have a roll-call vote, which would require every representative to announce their vote aloud for the record.
“Good.” I thought to myself, “I want to be able to hold those accountable who vote against us.”
Ron and I glanced at each other as we heard the first vote. “Yes.”
And then another …“Yes.” And another … “Yes.”
I looked over at Ron, and saw the tears streaming down his cheeks.
And right then and there, I stood up. And I looked at Ron and told him to stand up too.
So we stood, shoulder to shoulder. One autism mom. One autism dad. Watching, waiting, wiping away tears.
We stood up straight, knowing the legislators down on the floor of the chamber couldn’t help but see us there.
One by one, as they cast their votes, they looked right at us. Some cried with us. Some smiled. They knew we stood there doing our best to represent the families who struggled to obtain coverage for even the most basic treatments for their loved ones with autism.
It was a moment, as an autism mom, and as a member of Autism Speaks’ Government Relations team, that I will never ever forget.
They saw the need. They weighed the evidence. They digested the numbers. They thought about their constituents.
They felt the momentum.
When all was said and done, they all voted “Yes.”
The same scenario is playing out in state after state across the country, as Autism Speaks works with advocates and legislators to pass meaningful autism insurance reform legislation.
In 2007, three states (Indiana, South Carolina and Texas) had laws in place requiring health insurance to cover autism treatment. Three years later, the landscape has changed dramatically. For years, determined parents of children with autism (like Ron Marcellus of Vermont, Mike Wasmer of Kansas, Josh Cobbs of Iowa, Bill Bolster of Missouri, Kirsten Murphy of New Hampshire and Anne Gregory of Kentucky) worked the halls of their state capitols, educating legislators, personalizing the need, hoping for a miracle.
Legislators from both sides of the aisle have decided to be more than mere supporters, but rather champions for the cause. Scott Rupp of Missouri advocated passionately on the Missouri Senate floor. Senator Daryl Beall of Iowa spoke poignantly about his grandson and inspiration, Drew.
So far, in 2010 alone, governors in Kentucky, Kansas, Iowa and Maine have signed autism insurance bills in their respective states. Bills in Vermont and Missouri are sitting on their governor’s desks, awaiting signature. And many, many states are working actively on similar legislation. To learn which ones are, please visit http://autismvotes.org/stateinitiatives.
Three years ago there were three states requiring health insurance to cover autism treatment. Now, there are 19. And soon there will be 21. And before we know it, the majority of states in the country will have meaningful autism insurance reform legislation on the books.
Lawmakers will see the need. They will weigh the evidence. They will digest the numbers. They will think about their constituents.
They won’t be able to help feeling the momentum.
And advocates and stakeholders will stand shoulder to shoulder, thankful for the progress.
Proving it’s about time …
Time for lawmakers to listen.