The Status Quo for Sick Kids is INTOLERABLE
We Have to Change This NOW
As we have been refining our focus for the Wishes for Elliott campaign, we have become aware of the broad movement of which we are a part. While we were initially driven by a righteous indignation regarding the absence of significant research efforts on Elliott’s rare disorder, we have also become aware of a broader national disgrace: the neglect of nearly all the many rare neurological (and other) disorders robbing thousands of children of a full life.
Over 35,000 children are dying in America every year from “natural” causes . Nothing is natural about that. That’s nearly 4 times as many as die from accidents and ten times as many as are murdered.*
Sick Kids Mostly Just Written Off
While every death is tragic and needs our attention to prevent, there’s an extraordinary absence of national commitment to tackling the many undiagnosed disorders killing our children. In addition to these unforgivable deaths, there are tens of thousands more children living and struggling with rare and undiagnosed disorders – but their cause remains largely ignored by major medical research efforts.
This absence of any urgency to better understand these disorders and find treatments and even cures is simply INTOLERABLE – particularly given the breathtaking advances in the understanding the human genome and medical science generally. These kids are largely forgotten and written off in the world of research priorities.
Families of these kids have all heard their doctors admit that they don’t have any answers and that there is little hope for improving their kid’s condition. We – like many other families with profoundly disabled children – found the message that there was no hope infuriating and unacceptable.
Absence of National Commitment to Health Research
The central problem is that there is no national commitment to support the scientific – both basic and applied - research that clearly offers both the hope and promise of providing answers for these children and their families. The challenge with the imbalance of US spending on health goes even deeper – while the US spends roughly $2.8 trillion annually on health care, with one of the highest per capita expenditures in the world, less than 5% is invested in biomedical and health research#. So the U.S. remains at the wrong end of both measures – spending the most per capita but yet achieving among the lowest outcome per dollar invested across the globe.
While the pharmaceutical industry does spend roughly $80 billion a year on “medical research,” which is about twice as much as public funding, only rarely do they ever focus on any of the over 7,000 rare diseases that over 30 million Americans suffer from. The economics of the cost of researching disorders and then developing and testing drugs doesn’t work with rare and poorly understood diseases. In short, there is no “market” for private investment in treatments for rare diseases.
When markets fail to provide something valued by the public, we look to government to play a role. And yet federal funding for even the broadest medical research has been paltry, spread extremely thin, and remains grossly inadequate. The best that can be reported is that after across the board cuts, NIH has returned to same level of nominal funding as of ten years ago. With these significant cuts in real terms, NIH has made fewer grants, furloughed researchers, offered fewer clinical trials and seen a dramatic reduction in young scientists in the field.
Hear young scientists discuss the impacts on Speaking Up! For Science
Investment Can – and Has Helped
According to the Centers for Disease Control and Prevention, public investment has already demonstrated that spectacular results can be achieved. In the early 1900s, infectious diseases like measles, diphtheria, tetanus and polio claimed the lives of MORE THAN two-thirds of ALL children before the age of 14! Yet within decades of research and public health campaigns, mortality from these diseases in the U.S. was virtually eliminated.
And while we don’t have a national commitment to support research and find answers to help severely disabled children, at least we don’t still hide them. During the 1960’s these children were still mostly institutionalized and hidden from not only the public, but their own families. We had a cousin in our family who had been institutionalized for her entire childhood – and “released” in the 1960’s. Of course she was smart as a whip – lived independently for years, and became an activist for rights of the disabled. The ugly family secret was that her family had sent her away just because her legs didn’t work, not wanting the other “healthy” kids to suffer indignities of having a disabled sibling. There are estimates that in the late 1960’s, at the height of institutionalization, as many as 100,000 children were housed in 162 state facilities across the U.S. ~
New Era with High Impact Philanthropies Leading the Way
It is becoming increasingly recognized that patient organizations and the philanthropies they have set up have taken a leadership role in supporting well targeted research yielding positive results and new inroads into understanding and developing treatments for various diseases. In 2012, philanthropies expended roughly $1 billion on medical research^.
In the early 1960’s, only 30% of children with childhood cancer survived. Now over 80% survive, due largely to efforts by The Kids Cancer Society and American Cancer Society. Similarly, philanthropic funding by the Cystic Fibrosis Foundation has led to the discovery of a genetic source for CF. They are now developing treatments targeted at the root cause of this debilitating disorder still affecting over 30,000 children and adults.
We want to share in more detail two other stories of research being driven by passionate patient advocates. These examples are both much closer to home for Elliott’s journey with the first, the story of how Michael Hammer, an archeological geneticist turned his career around to research the genetic source of his daughter Shay’s disease. The second is the case of Massimo, whose father almost single-handedly broke new ground for whole genome testing to uncover the source of his son’s debilitating illness.
Shay Hammer was a beautiful young girl who developed seizures as a child and regressed in her development. Her doctors had no understanding of the root cause of her disorder, inspiring her dad to apply his expertise as a genetic archeologist to research the root cause of her disorder. He completed whole genome testing and found the culprit to be the same SCN8A gene that appears to be primary source of Elliott’s problems. Tragically, Shay succumbed to SUDEP (Sudden Unexplained Death in Epilepsy). Watch the video below, which was televised in Arizona just a few months ago sharing the story of his research – and Shay. The Wishes for Elliott research team led by Dr. Adeline Vanderver, is delighted to be actively collaborating with Dr. Hammer on both the development of a critical patient registry and early analyses of patterns in varying cases of SCN8A mutations.
Massimo is a wonderful little boy from Australia who also had an apparently normal early development but then began to have seizures and regress in his development. Massimo’s family relentlessly pursued the cutting edge of science to identify the root cause of his disorder. There are at least two elements of Massimo’s journey that are similar to Elliott’s. First, he was found to have a specific myelin disorder (a disorder affecting the white matter of the brain). Although this is different than Elliott’s genetic mutation, Elliott also has myelin degeneration – so research on Massimo’s disease may help inform understanding of Elliott’s condition. A second synergy is that Elliott’s neurogeneticist, Dr. Adeline Vanderver, who is the lead investigator of the research we are sponsoring at Children’s, has also been closely involved in the study of Massimo’s category of disorders known as leukodystrophies. Watch for Dr. Vanderver toward the end of this amazing story. [Select "Cracking the Code (Watch the Full Program)" from this link.]
Your Support is Essential to Help End the Tragic Neglect of these Children’s Future
On a national level, priorities need to be realigned to make research to improve health a higher national priority generally. But we also urgently need a specific national commitment to supporting research on rare diseases. Increased funding is urgently needed for NIH as their leadership and coordination in these emerging sciences is imperative. While we need to work with others and dedicate some of our own energies to this national effort, the dysfunction in Congress is all too evident to us all.
We can’t wait for Congress!
Action is needed NOW to push science for answers to the mysteries of rare neurological disorders robbing thousands of kids of a normal life. Unfortunately, there are no existing philanthropic organizations dedicated to this work.
For example, there is the Epilepsy Foundation doing lots of wonderful work. During more than 40 years of service, the Epilepsy Foundation has channeled more than $52,000,000 into epilepsy research – yet none has been yet devoted specifically to SCN8A.
Each patient organization has had to move into the void, create its own constituency, raise their own funds, and sponsor their own research. For example, there is a very active and effective organization for research on the SCN1A mutation, known as Dravet Syndrome. To date, the Dravet Syndrome Foundation has allocated over $1.6 million to diverse research projects (including support of research efforts by Dr. Hammer, who we discussed above).
Wishes for Elliott Embodies Cutting Edge of Action
So it became very clear to us early on that if a real national research agenda was ever to begin on SCN8A issues, we would need to start it. And due to the double blessing of having Dr. Vanderver, a leading researcher on rare genetic disorders, as Elliott’s doctor and the dedicated support of so many friends, Wishes for Elliott already has underway initiatives that hold enormous potential to advance the state of understanding of Elliott’s rare SCN8A genetic disorder.
Because of the extraordinary engagement of you - our friends and family – reaching out to and engaging your friends – and their families – we have made unimaginable progress:
the development of a Bio-registry of children suffering with various forms of mutations to their SCN8A gene is underway right now;
the first ever conference of researchers and clinicians working on SCN8A or related mutations will be convened this coming Spring;
a Consensus Statement that outlines an agreement on what is already known about SCN8A mutations - but more importantly - what the priorities are for future research is being prepared;
a collaborative team is in place to begin analyzing the initial entries in the Bio-registry;
a wide range of stakeholders will come together this Spring to launch a demonstration project on the impact of improved access to whole genome testing to improve the diagnosis and understanding of rare genetic disorders.
And as if all that wasn’t enough to take your breath away, our tiny but strategic Wishes for Elliott team has established a vital partnership with leading researchers at the National Institutes of Health team leading cutting edge research on rare neurological disorders. Working together, in the coming year we will have established the momentum for:
NIH convening of a Conference on Rare Epilepsies, bringing together both patient organizations and researchers and
Establishment of Trans-Institute Working Group, responding to the complexity and diversity (and continuing rapid growth) of sodium channel genetic disorders.
But as extraordinary as these initial steps are – we have only made the down payment on the total costs to bring them to fruition.
You Can Help Us Bring Real Hope to these Forgotten Children
As overwhelmed as we are by the progress our supporters has made possible – so we remain challenged to raise the considerable funds required to keep all these initiatives going.
We are tiny. We are very young. We are total novices at everything we are doing. And we are all deeply involved in Elliott’s care and life – and are constantly balancing efforts to build and nurture a movement with our precious and treasured family life.
Elliott’s life is fragile and if we have any hope of finding answers that can help him, we need to find them soon. We are committed to doing this work for Elliott and thousands of other children suffering and eagerly awaiting a breakthrough.
With your help making the continuation and expansion of this research possible, we can lay the groundwork for finding some seeds of hope. By leading the way, the seminal work made possible with your support can eventually lead to federal support for this critical and hopefully lifesaving research. Please consider joining our cause and helping us PUSH SCIENCE FOR ANSWERS for this tragically neglected group of children.
* The reported categories of death include perinatal conditions, congenital anomalies, neoplasms, respiratory diseases, circulatory disease, nervous system disease, and SIDS. Because these are presenting condition, they mask the significant number of children where the root cause of their conditions remain unknown. U.S. Child Mortality, 2010, National Center for Health Statistics, CDC
# CMS and Annual review by Research!America
~ Data from Charlie Lakin, a professor at the University of Minnesota who studies the history of institutionalization. Other experts put the number of institutions as high as 200,000. See story on efforts to search for family members
^ Research!America annual analysis