HELP FUND AND FIND ANSWERS
Help us find answers to the challenges Elliott and others like him face by funding carefully targeted and applied research and collaboration.
Help Us Raise $100,000 This Year
To Support Vital Medical Collaboration and Research
Cutting edge research is essential to improving the understanding of currently unknown genetic roots of countless undiagnosed neurological disorders. And as the genetic roots are identified, the effort and hope expands to identify treatments to mitigate, treat or potentially prevent catastrophic disorders such as Elliott’s. This research is Elliott’s main hope – and WISH – for any improvement in his profound and pervasive disabilities. The sooner we fund these efforts, the greater the likelihood that benefits might accrue to Elliott.
Research is not a quick, one-time endeavor. So to start we have set multi-year targets
$300,000 over the next three years with
$100,000 by June 30, 2015
This is a major challenge to go from nothing to a virtual movement energized by friends, family, neighbors, and others.
IT IS POSSIBLE but only with your help.
Below we outline a plan and strategy for how these funds can be used to have the maximum benefit to a broad population of children suffering from rare and undiagnosed neurological disorders.
As we in Elliott’s family have continued to uncover more clues about his condition and dire prognosis, we have found solace and hope in the many promising opportunities to advance medical understanding of these disorders and create meaningful hope for Elliott and children like him.
Elliott has severe complications related to the problems with his nervous system, including epilepsy (or seizures), low tone, difficulties with feeding and limited ability to communicate even with those who love him most. We have begun to understand, if not accept, that he might never do the things typical little boys his age grow to do.
What we cannot understand, or accept, is the fact that the doctors cannot name, and thus even begin to understand, what is causing Elliott’s difficulties. Elliott has had blood tests, urine tests, cerebrospinal fluid tests, a series of MRIs and CT scans, to no avail. Very recently, we learned through advanced but still limited whole exhume genetic testing, that Elliott has a mutation in his SCN8a gene known to have some association with seizures and intellectual disabilities. Thus is a huge lead creating many promising areas of inquiry, but itself provides limited information on Elliott’s condition, its source, or its effect on different carriers. Knowing a specific gene is altered is a far cry from a diagnosis.
As extraordinarily rare as this particular mutation is, Elliott in important ways is not alone. Elliott is one of the nearly millions of Americans living with a rare and all too often undiagnosed neurological disorders.
Lack of a diagnosis means no understanding of the disease at play in Elliott’s body, and most importantly, no hope of ever advancing towards a treatment or a cure. Over half of the 1 in every 7000 children born with a genetic problem of the myelin, another condition presenting in Elliott’s brain, never achieves a diagnosis.
We are now channeling all our efforts to garner public attention and support to two tragic gaps in the medical treatment of children with rare and undiagnosed neurological disorders:
CLINICAL APPLICATIONS: The lag in the link between ever advancing medical and scientific knowledge and technologies and applied clinical treatment; and
RESEARCH DEVELOPMENT: The slow pace in extending the knowledge of the root causes of many unique and poorly understood childhood neurological disorders.
In order to adeptly apply funds where we can have the optimal impact, we are raising funds for two related but distinct purposes:
CHILDREN’S NATIONAL MEDICAL CENTER WHOLE GENOME DEMONSTRATION
THE ELLIOTT TARGET OF OPPORTUNITY FUND OR E-TOO FUND.
THE CNMC WHOLE GENOME DEMONSTRATION – THE RIGHT TO GETTING ANSWERS
The objective of this fund is to lay the foundation for a national partnership on demonstrating the clinical benefits and equity of whole genome testing.
Despite extensive advances in medical science, there are still unserved children with rare disease. These children are under served by the medical community not because their parents do not seek answers, and not because their doctors do not do the utmost to help, but for a much simpler reason. They do not have a diagnosis. A diagnosis is crucial to understanding disease features, expected complications, appropriate medical management and what the future might hold for these very sick children. Extraordinary advances in medical technology called Next Generation Sequencing for the first time make diagnoses achievable for these children.
However these approaches are not yet widely used in the clinical setting, are not always reimbursed by insurance companies and are still difficult to analyze. This project will work with stakeholders to increase acceptance of these technologies in the clinical setting, and implement them as a pilot group in children with myelination defects and or severe epilepsy such as Elliott. We wish that other children like Elliott and his family might not be burdened with an unsolved condition. Please join us in wishing for a different outcome for children with severe genetic neurologic conditions”.
The foundation phase for this demonstration project requires building partnerships across a wide range of interested players including genetic testing organizations, insurance companies, patient rights organizations, and other health care organizations.
The fundraising goal for funds dedicated to the CNMC Whole genome Demonstration Project is $70,000 a year for three years
The first applications of the funds for the WHOLE GENOME DEMONSTRATION PROJECT WITH CNMC will be for
Building Partnership and Laying Groundwork for Demonstration Pilot on Whole Genome Testing: GOAL: $40,000 by December for conference in early 2015)
THE ELLIOTT TARGET OF OPPORTUNITY FUND (E-TOO FUND)
In addition to the exciting and promising demonstration project of the clinical benefits of whole genome testing, there are many other areas where modest investments can make important inroads. With the initial funding that Elliott has a specific but poorly understood genetic mutation, countless opportunities are already presenting themselves and are emerging as fruitful areas for investment.
Flexibility is important because work on the SCN8A is going on in scattered laboratories around the world. And children with the mutation will soon be more readily identified, providing important opportunities for collaboration and coordination of applied clinical experience. We are thus establishing a second fund, designed to make timely, strategic investments. It will be the flexibility of these funds that will allow the funds to be directed precisely where they can make the most difference.
A flexible fund will also allow the family to work to begin to fill the serious gap in support services and networking opportunities for parents of children with rare and undiagnosed neurological disorders.
The fundraising goal for funds dedicated to the ELLIOTT-Target of Opportunity Fund is $30,000 a year for three years for a total of $90,000
Two specific projects for 2014-2015 to be funded by the E-TOO fund include
Creating Family Support and Empowerment System: begin with a Family Conference in Fall and funding a standing family support group to pilot through 2015: GOAL: $5000 raised by October.
set up ½ day workshop of Myelin Clinic and HELP patient families on creating a sharing network and support system for families and caregivers
Developing Coordination and Advancement on SCN8A issues: plan conference for Spring 2015. GOAL: $30,000 by December; Host a technical conference on state of SCN8a research and future directions
Other initiatives, to be identified and confirmed, as our understanding the state of knowledge and activity in the area develops, could include:
funding of specially targeted lab and/or functional studies on SCN8A
coordination conference with clinicians reviewing case histories and treatments of SCN8A children.
SUMMARY OF INITIAL 2014-2015
WISHES FOR ELLIOTT
PROJECTS AND FUNDING GOALS
WHOLE GENOME DEMONSTRATION PROJECT WITH CNMC
Building Partnership and Foundation for
Demonstration Pilot on Whole Genome Testing
by January 2015 for conference in Winter 2015
ELLIOTT TARGET OF OPPORTUNITY FUND
Creating Family Support and Empowerment System
Family Conference and Family Support Group
Developing Coordination and Advancement on SCN8A issues
Host a technical conference on state of SCN8A research and future directions
Raise funds by December, 2014 (plan conference for Spring 2015)
Give Now to Help ELLIOTT’S and OTHER CHILDRENS WISHES COME TRUE
MAKING A DIFFERENCE in CHILDRENS LIVES
…By supporting these efforts, you can play an important role in changing children’s lives for the better. Using advanced genetic technologies, called next generation sequencing, Dr. Vanderver is slowly changing the percentage of cases that remain unsolved. She aims to decrease unsolved cases like Elliott’s from over half to fewer than 10%. Even more importantly, understanding the genetic cause of a disease can ultimately lead to treatment.
There is no doubt that these initiatives – through the CNMC Demo and Elliott-TOO Funds – will yield groundbreaking lessons for researchers and clinicians. The lives of children and their families suffering from rare and undiagnosed disorders can be forever changed.
But action is needed as soon as possible.
The sooner we get this research underway, the greater the likelihood that answers will come in time make a difference in Elliott’s life.
Please donate now. At the highest level you can afford. EVERY contribution will help get this work funded soon.