Gabi and John on their decision to launch "Wishes for Elliott"
Far too many parents don’t get the “healthy” baby they all wished for. Happily, often advances in medical science seem to perform “miracles” bringing hope and effective treatments. Sadly, however, there are thousands of babies born every year with rare disorders leaving their doctors and the families with no diagnosis.
The Hopelessness of an Undiagnosed Disorder
The world of neurological disorders is one where medical science has left thousands of children behind. Not only are there 150,000 new cases of epilepsy in the United States each year, but
In 6 OUT OF 10 of people with epilepsy, the cause is unknown and
ONE-THIRD of people with epilepsy live with uncontrollable seizures because no available treatment works for them.
Wishes for Elliott Pushes for Answers
Wishes for Elliott is working to accelerate the pace of medical research and improve the understanding of rare and undiagnosed neurological disorders in children.
Wishes for Elliott was formed by the family and friends of Elliott Conecker who was born two years ago with a seizure disorder of unknown origins. After two rounds of genetic testing, Elliott was found to have a rare genetic mutation - but it is only known to be associated with debilitating seizures and didn’t bring any understanding of how it works or how to treat it.
For thousands of children, even those with an identified genetic mutation, science has left them behind. Research into genetic disorders is almost as rare as the diseases. And yet over 30 million men, women, and children are affected by one of the nearly 7,000 known rare diseases, most of which remain neglected and forgotten medical mysteries
Without more research, even the best doctors are left with no understanding of how these rare disorders work, how to treat them, or what the prognosis of its victims are.
Increased NIH Funding Needed – but it is Actually Declining
A broad national policy is needed to address these neglected children and others struggling with rare disorders. Efforts are sorely needed to ensure sufficient and consistent funding for the National Institutes of Health (NIH) which is currently vastly underfunded. But while such broad efforts are essential, Elliott’s parents were as unwilling to wait for Congress to act as they were to wait for medical science to catch up with Elliott.
Research and Collaboration Already Underway
It is all too well accepted that medical research – especially into rare disorders – takes decades (at best) to move forward. And yet with the extraordinary engagement of our friends and family – and their reaching out to and engaging their friends – and their families – Wishes for Elliott has made unimaginable progress:
the development of a Bio-registry of children suffering with various forms of mutations is underway right now;
the first ever conference of researchers and clinicians working on sodium channel mutations will be convened this coming Spring;
a Consensus Statement that outlines an agreement on what is already known about the mutations including the priorities are for future research is being prepared – and will provide the focus of the meeting of experts – with plans for immediate publication;
a collaborative team is in place to begin analyzing the initial entries in the Bio-registry of affected children;
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.
But as extraordinary as these initial steps are – Wishes for Elliott has only made the down payment on the total costs to bring them to fruition. 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 appeal for your help supporting Elliott’s family in assuring this ground breaking can proceed. Your support both directly and sharing the story of Elliott’s journey makes ground-breaking research and collaborative efforts possible to shed light on this mysterious genetic disorder robbing Elliott and far too many others like him – of any hopes of a normal life. These efforts offer Elliott and his family the only hope of answers – and eventually treatments and cures.
