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, Regional Director State Advocacy Relations at Autism Speaks.
The message struck me as I tore off the page on my daily calendar. “If a miracle can happen at anytime, then why not today?” It was January 21st, the final day to file legislation in the Virginia House of Delegates for the 2011 session.
We had our champions in the Senate. Senator Janet Howell had been inspired by her grand nephew who had autism and had once again stepped up to lead the charge. Senate Majority Leader Dick Saslaw had been inspired as well, and under his leadership, autism insurance reform legislation actually passed the Senate in 2010, only to die in the place it had died for multiple years: the House Labor and Commerce subcommittee.
I breathed a heavy sigh, knowing that we would need nothing short of a miracle to make it out of that subcommittee in 2011. It was the same group of legislators who had refused to even take a vote on the bill the two prior years. There was no reason to believe our outcome would be any different this time around.
But we had to keep pushing. We just had to. Family after family had testified in Richmond about their struggle to pay for the most basic treatments for their loved ones with autism.
One mother spoke of her two preschoolers, both of whom had been recently diagnosed. Their doctor had prescribed Applied Behavior Analysis therapy for the boys, knowing early intervention was crucial. She blinked back tears as she held up photos of the two sweet faces, asking the legislators, “Tell me .. which one? Do I give them both just a little therapy, knowing that it’s not even close to enough? Or do I focus on giving the appropriate amount of therapy to just one?” These were the sort of choices Virginia families were being forced to make because health plans specifically excluded treatment for autism.
Another mom spoke about how health insurance had covered the treatment for her son with leukemia, but her son with autism was categorically denied. This was discrimination, plain and simple and legislative action was needed to end it.
You would think with such compelling testimony, legislators would move swiftly to correct the problem. But our opposition had a strong presence and created just enough confusion to convince them otherwise. They shrugged their shoulders and pointed to the educational system, saying autism was something that should be dealt with in the schools. They made outrageous claims about the cost, claiming that if autism were covered, Virginians would end up losing their healthcare because it would be too expensive. Businesses just couldn’t bear this additional burden.
Fortunately, not only did we have compelling family stories on our side, we also had facts. Actuarial studies and experience data from other states indicated that coverage would likely increase health insurance premiums less than half of once percent; mere pocket change. Another study commissioned by Virginia’s Joint Legislative Audit and Review Commission indicated that billions of dollars in special education services could be saved if children were provided intensive early intervention. The Virginia Chapter of the American Academy of Pediatrics stepped up to testify regarding the efficacy of the treatments included in the legislation.
So here we were, heading into yet another legislative session, the filing deadline looming. Even with the families and the facts in our arsenal, Virginia legislators had turned us away, year after year. We needed a breakthrough desperately.
On January 21st, that breakthrough came. I began the day, wearily tearing off the daily calendar page, knowing that miracles were something nice to think about, but just not reality in the world of autism. I ended the day on a very different note.
I’ve actually saved the e-mail that I sent to my colleagues at 5:30 pm that Friday. The subject line tells the tale. It simply reads, “Do you believe in miracles?” I went on to explain that an extraordinary development had occurred. Not only had our autism insurance legislation been filed in the Senate, but it had also been filed in the House. As anticipated, Senator Howell was listed as our patron in the Senate and Senate Majority Leader Saslaw’s name was there as well. What we didn’t anticipate was that, in addition to our two new sponsors in the House (Delegate Tim Hugo and Delegate Tag Greason) another patron’s name had been added to the list: Speaker William Howell.
This was the breakthrough we needed. With the Speaker on board, the House subcommittee where had died two years running finally voted us out of committee favorably. We quickly navigated through committees in both the House and Senate, eventually passing both chambers and heading to the Governor’s desk. Governor McDonnell initially protested, sending the bill back to the legislature with amendments. The legislature stood strong, rejecting the poison pill amendment and, thankfully, Governor McDonnell saw fit to sign the legislation into law on May 6th.
It is worth noting that this was not a miracle that happened in a vacuum. This miracle was the product of a great amount of blood, sweat and tears. It was the result of the commitment and determination of members of the Virginia Autism Project, a group of stakeholders who literally worked for years to see this effort through. It was the product of the leadership of legislative champions including Senators Howell and Saslaw, Delegates Greason and Hugo and Speaker William Howell. The members of Autism Speaks’ Government Relations team have been honored to work alongside this incredible group of miracle-makers over the past three years.
I’m happy to tell you that I now know the answer…
And it’s an unequivocal, “Yes. Absolutely… Why not today?”