12 Steps to Becoming an Informed Supporter for SCN8A Children

# 12 – Learn 6 basic FACTS about SCN8A epilepsy

Will you accept our CHALLENGE to learn something new each day about SCN8A?

If you’re a regular follower of Elliott’s journey, you likely already know more than you think – see how many of the Six Facts About SCN8A you already know.

Huge thanks to The Cute Syndrome Foundation for taking the initiative to mark this day and the tireless work they do to help SCN8A families connect and support research.

Share our Wishes for Elliott page/posts to help us spread the word about this rare but devastating disorder. Encourage friends to Like and Follow us for the unblemished openness about parenting a child profoundly disabled by a still mysterious disorder.

SIX FACTS ABOUT SCN8A:

  1. SCN8A mutations are associated with some of the most severe forms of epilepsy.

  2. 70% of affected children suffer from intractable seizures, double the rate among the overall epilepsy population.

  3. Many children struggle with debilitating effects including 50% unable to walk, over 50% are nonverbal, and 30 % lack head control.

  4. Children with SCN8A are at very high risk for early death from a range of causes.

  5. Children with SCN8A are very consistently cheerful, resilient, loving, and tolerant modeling life lessons to all around them.

  6. Little is known about the science of SCN8A including the torturous absence of established treatments, Like many rare disorders, families and their efforts to advance research offer the greatest hope for these beautiful children who deserve so much more.

# 11 – Learn about the prevalence of epilepsy

Meet four special SCN8A children on the new Cover Photo: Shay, Amadeusz, Mila and Maria, including messages from each family on some fact about their experience with SCN8A.

We will be introducing you to many more SCN8A children over the next 10 days. To understand our goals for Awareness Day, discover facts about the prevalence of epilepsy more broadly and learn distinct characteristics of SCN8A, go to our blog entry.

# 10 – Meet Elliott and Assist in Our Campaign

SCN8A CHILDREN: Today we share Elliott’s picture with some things many might not know about him. Look out for posts we will be sharing over the coming 10 days from The Cute Syndrome Foundation with photos and facts about Elliott’s SCN8A brothers and sisters also struggling with SCN8A.

MEDIA OUTREACH: Can you help us get the word out? We have prepared a Press Release available at http://www.wishesforelliott.org/blog to inform and interest journalists in writing or airing a story about SCN8A. If you know a journalist or free-lance writer, please share the press Release with them, sharing why you follow and care about this life affirming cause.

SHARE: Please help us engage others in the challenge to learn more about SCN8A – remember to SHARE our posts that move you to engage others in increasing SCN8A Awareness. Help us get “Likes” and followers for Wishes for Elliott over 1000.

# 9 – Video on Children of SCN8A

Meet some of the children of our SCN8A family. Special thanks to Hillary Savoie, Juliann Gajewski Bradish, The Cute Syndrome Foundation, and all the participating families for this powerful peak into life – and all too often death – with SCN8A.

Please help us spread word of this cruel and poorly understood disorder. Bring answers and hope for these beautiful children.

# 8 – Why we are driven to push for answers

Most of you who follow Elliott’s journey regularly know how profoundly fragile Elliott’s condition is and how we are consumed – morning, noon, and night – helping him manage constant respiratory failure, GI troubles, etc. We share once again the video of 2 hours of managing Elliott in respiratory distress condensed to two minutes, which we posted a few weeks ago. Things haven’t changed. We are exhausted. We are frightened. We confront his imminent passing daily – and try to savor his presence in the midst of chaos.

Some of you may wonder why we do this. Why would we take such precious and likely limited time we have with Elliott to advocate, promote, and seek to expand public awareness about SCN8A epilepsy?

The short answer is, when we found we couldn’t help our own child – we just knew we had to “DO SOMETHING.” This resolve occurred on the very day we were given Elliott’s SCN8A “diagnosis” after over a year of searching for an answer. While there was some satisfaction in getting the diagnosis of these numbers and letters, of his genetic mutation, it was immediately clear that the diagnosis came with no answers.

And for us, doing something translated into accelerating the slow-paced, poorly coordinated, and marginally funded research on SCN8A through, among other things, sponsoring scientific meetings to foster collaboration and infuse a sense of urgency with researchers.

To be truthful, we are driven more to create a lasting legacy for Elliott than by any hope or expectation of extending his life. Elliott's beauty, purity and limited life inspires us to help prevent other children and families from living with no answers or hope. We remain genuinely committed and driven to accelerate the pace of scientific research in bringing answers to children with SCN8A mutations. Thank you for your help.

Please continue to share these updates in the hopes that we reach more people!

# 7 – Meet Dr. Hammer

Learn more about our friend and the first to identify the SCN8A gene as pathogenic in humans – Dr. Michael Hammer.

“I’m a lot more introspective about – not what makes us human, but what our purpose here is as human beings. What does life mean to us? What is important about being alive? Because it’s so tenuous – it can just disappear at any moment.”

# 6 – Insights into to heterogeneity of SCN8A

Amazing insights are sometimes readily accessible when we ask the right questions- and have an organized and engaged community of families. In preparation for the second SCN8A Expert conference we hosted this past December, we worked with Dr. Hammer to conduct a brief survey of experiences of SCN8A families. And families responded with the most comprehensive profile ever of our children’s conditions and treatments, Dr. Hammer made some new and remarkable discoveries regarding an apparently very high correlation between the location of some mutations and the impact on the children’s seizure control or development.

Of the five reported cases of children over 2 years old with mutations at two locations (R850Q and N1877S), the former were 100% refractory (seizures uncontrolled by medications) and experienced very limited development. In stark contrast, in the 5 cases with the mutation at N1877S, all the children were 100% seizure free and experienced no developmental delays in sitting, manual dexterity or walking.

The period when seizures began were also very different across the two groups. In the former, seizures appeared between 0-5 months with several experiencing infantile spasms, while the latter group had seizures first emerge at 5-10 months and none experienced infantile spasms.

While very preliminary and underscoring the importance of collecting MORE DATA from as many families as possible, this striking new data suggests several areas for promising future research on understanding how the mutations at different locations function and may lead to dramatically divergent results. Such a line of inquiry may also may eventually allow doctors to share different prognoses for children linked to the location of their mutations.

So for example, when we see other children with SCN8A mutations respond to and improve substantially with certain treatments, we no longer need worry that if we just tried a different mix of medications, Elliott would just emerge from his state of zero development and constant medical fragility. On a more hopeful side, such discoveries, when validated and confirmed with data from more children, also begin to lay a foundation for exploration of more targeted “Precision Medicine” treatments. The heterogeneity of our children may well mean there is no single treatment that will likely be effective for all our children. See

http://www.futureofpersonalhealth.com/prevention-and-treatment/epilepsy-as-a-model-for-precision-medicine

This is what “advancing the state of the science” looks like. And we are so proud to be part of this. Our heartfelt thanks for all of you who make our work "advancing SCN8A research" possible.

# 5 – Facts about Epilepsy

Consider taking a few moments to learn some facts about EPILEPSY generally. Here are some excerpts from the comprehensive and very readable Milken Foundation’s "Epilepsy: A Giving Smarter Guide":

“ONE IN TWENTY-SIX PEOPLE LIVING IN THE UNITED STATES HAS EPILEPSY…At least 50 million people live with this disorder worldwide. The manifestation of epilepsy has been shown to vary widely among patients…Unfortunately, the biological and clinical profiles of all epilepsy subtypes is not well known.” [NOTE – this is certainly the case for SCN8A children]

“THIRTY TO FORTY PERCENT OF EPILEPSY PATIENTS DO NOT ACHIEVE EFFECTIVE SEIZURE CONTROL with currently available therapies. Of those who do achieve seizure control, they are often left to contend with often severe adverse side effects from epilepsy therapies.” [NOTE – for SCN8A children, 70% do not achieve effective seizure control!]

“THERE ARE NO DISEASE MODIFYING THERAPIES for epilepsy. Current epilepsy medications do not treat the underlying cause of epilepsy, but instead only treat seizures, which is a symptom of epilepsy. Knowledge gaps in understanding biological underpinnings of epilepsy are currently precluding the field from developing treatments that can correct the abnormal biology driving the disease.” [hence our laser focus on accelerating research]

“EPILEPSY IS UNDERFUNDED. Compared to other neurological diseases, government funding and nonprofit support has lagged behind. For example, epilepsy is six times more prevalent than Parkinson’s disease, but receives 10 times less funding from nonprofit and government funding sources combined. Additional funding and providing opportunities to attract young investigators and encourage collaboration between the different research communities would ensure a sustainable and thriving workforce

# 4 – We are connected to the world-wide Rare Disease community

The cause of SCN8A is linked not only to many rare genetic epilepsies, but to the more than 7,000 rare diseases -- 95% of which lack scientific understanding and treatments. There are an estimated 350 million rare disease patients worldwide, more than cancer and AIDS patients combined. More than 50% of rare disease patients are children.

The 10th Rare Disease Day, coming up February 28th, is an international advocacy day focused on bringing widespread recognition of rare diseases as a global health challenge and promoting engagement and action.

The theme this year is “Research” and families, researchers and advocates are coming together all across the globe to raise awareness of rare diseases through thousands of events all over the world.

Connecting with that community is important for us, even though we know we still need to learn more about the science of SCN8A and anticipate extremely tailored treatments for our children. Like the global rare disease community, our SCN8A community can help advance our cause by encouraging our legislators to help advance scientific research and protect fundamental rights of the differently-abled.

# 3 – Be informed - help preserve research and rights of differently-abled

Public or government policies REALLY matter for our children. A wide range of policies that can either help or jeopardize our children’s future are currently being debated in Washington. These debates apply to our community and should concern you REGARDLESS of your political views. We only presume you share our interest in preserving research, drug development and rights of differently-abled children.

We outline just a few of these issues that are actively in play. It is vital for our community to both be informed and SPEAK OUT.

1. INSURANCE A range of insurance issues are raised by Congressional focus on repealing and replacing the Affordable Care Act. Many are aware that the Act prohibits discrimination of persons with pre-existing condition. It is less clear that there are layers of protections for the rare disease community which need to be preserved in any replacement including: - Guaranteed issue - Requiring plans offer a baseline of benefits - Bar on structuring premiums based on health status Other critical protections include a prohibition of annual and lifetime cap on coverage and provisions promoting robust and accessible access to Medicaid across states

2. NIH Appropriations and staffing restrictions at NIH are vital for progress in both the basic and applied research so vital to finding treatments and a cure for our children. NIH funding has remained stagnant over the past ten years, resulting in a 25% loss in purchasing power. The NIH is now able to approve half the number of grant requests relative to a decade ago

3. FDA FDA funding and staffing – there are potentially severe consequences of the federal freeze on both regulations and hiring. The deck is already stacked against drug development for rare diseases – conditions will only further deteriorate with a weakened FDA.

4. REPURPOSING DRUGS Federal policies can optimize incentives for drug companies to develop and apply drugs for rare diseases. The OPEN Act would increase incentive for repurposing approved drugs for rare disease applications- offering one of the fastest routes to finding treatments for our children.

5. EDUCATION Federally guarantee and enforcement of rights of differently-abled to education are being debated with a focus on expanding state discretion and reducing federal guarantees.

# 2 – Give of Yourself – Your help is needed

Over the last 10 days we have shared information and posed different ACTIONS you can take to help advance SCN8A AWARENESS.

But we know that life is busy. The good news is that there are already three non-profits and the registry project, each undertaking a range of exciting efforts to advance research and support SCN8A families.

At Wishes for Elliott, we have hosted two expert SCN8A conferences, facilitated two seminal peer-reviewed articles on SCN8A, provided peer-reviewed research grants to 2 Young Investigators, and jointly supported the scn8a.net registry. See the areas where YOUR help would make a big difference for our work:

Please consider collaborating with us to actively advocating for SCN8A children.

# 1 – ISOLATION and DISCRIMINATION exacerbate the pain

We hope through 11 days of sharing, you have a new awareness about the devastation a small genetic mutation can cause to so many lives. And how the childhood and even lives of so many beautiful and wholly innocent children have been robbed by this mysterious and cruel disorder We also hope you have both ideas and motivation of something you will do tomorrow to help expand SCN8A awareness. Watch our website for a quick recap of action ideas. We have one final message to share – not just about SCN8A, but a shared reality for children and families with complex medical conditions.

ISOLATION and DISCRIMINATION.

Parents of medically complex children all too often become almost totally isolated from the world – friends and even some family disappear from your lives. It’s a devastating hurt layered on top of the raw reality of your child’s fragile health. And for those who reach out and try to stay in touch, there is no time, energy or ability to nurture those connections. Virtually every waking moment is occupied caring for/protecting/advocating for and trouble-shooting to protect your child. Watch for a new blog entry on our experience.

A parallel pain, is the pervasive discrimination, cruelty and even repulsion our children experience in the world. Questions are great – it’s the stares, whispering, and cruel remarks – as if our children weren’t human that inflict new pain nearly every time we are out in the world.

We were so touched by the story about how a mom responded to a stranger calling her child “repulsive”.

Mom Drops Truth Bomb After Ignorant Woman At Store Says Her 2-Yr-Old Son Is "REPULSIVE"

We have been confronted with a similarly crushing commentary In our fundraising for research for SCN8A - we have been told that they wouldn’t support research to extend the lives of these children who should be allowed to die!

Families and medically complex children need to be seen, heard, cherished and included in every walk of our society – but there is such a long distance to make this a reality. It’s our hope and belief that this campaign for SCN8A awareness has provided a small step in the direction of helping family, friends and even strangers embrace the medically fragile child and family. Don’t let them stay isolated.

See Gabi’s recent blog of how the isolation related to Elliott’s medical fragility creates a whole separate layer of pain.

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