Help Rafa and his  friends

Known as the voltage-dependent sodium channel type VIII, alpha subunit, the SCN8A gene produces a protein that encodes an ion channel involved in the generation of electro-depolarization and neuronal excitability threshold.

 

In other words, the SCN8A gene regulates sodium flow related with the neurons and muscles operation.

 

The SCN8A gene was isolated in mouse in 1995 and identified in humans in 2012, however, the function understanding and how the mutation in this gene can affect people are still in an early stage.

What is the SCN8A gene?
  • 100% have been through a constant cycle of anti-seizure medications, many of which either fail to help or actually worsen seizures
  • 80% have very limited motor skills with the other 20% all delayed, but improving
  • 80% are non-verbal
  • 60% have either little or only some control of seizures
  • 50% are dependent on a feeding tube for their nutrition
  • 40% experience pulmonary (breathing) problems
  • 30% have scoliosis
  • 25% have visual impairment or cortical blindness
We need answers

Unfortunately there is little information about the mutation in the gene SCN8A, however, we know that the impact on almost all affected children is devastating.

 

In order to find answers that can support the fight against this disease, three US families founded the organizations: Wishes for Elliott, The Cute Syndrome and SCN8A-Help Adeline Find Answers to help affected families worldwide through the dissemination and sharing information and also raise funds to support research in promising to give back the hope for a better future for these families.

The journey a thousand kilometers begins with a single

The first conference on SCN8A disease mutation happened in April 2015, organized by the Foundation Wishes for Elliott, there were the participation of other organizations The Cute Syndrome, SCN8A-Help Adeline Find Answers, researchers and physicians in order to initiate the research actions and discussions in the search for answers, and thus, the main priorities discussed were.

  1. We want a CURE. Let’s have some research focus on eliminating this cruel and devastating disorder – not just treating its many symptoms.
  2. We want a basic understanding of how existing ANTI-SEIZURE MEDICATIONS are likely to affect individual SCN8A children – eventually establishing a protocol to REDUCE THE GUESS WORK of prescribing potentially toxic and even deadly anti-seizure medications to our children. We know some drugs are the “miracle” drug effectively controlling some children’s seizures, while the same drug are severely toxic to others, nearly killing them.
  3. We crave information on the PROSPECTS AND POTENTIAL FUTURE of our children – some improve and others regress – some die very young and others are passing puberty.
  4. We need an understanding of the risks, including known instances of permanent regression, of various IMMUNIZATIONS on children with SCN8A mutations.
  5. We need a better understanding of SUDEP (Sudden Unexplained Death in Epilepsy) and the most effective strategies for protecting our children.
  6. We want a PRIMER FOR THE NEWLY DIAGNOSED – due to its rarity and limited literature, both families and treating doctors are often at a total loss when they learn a child has an SCN8A mutation. And we sadly hear of highly inappropriate treatment and assumptions. It needs to be clear that SCN8A is clearly distinct from other epilepsies – and highly complex and heterogeneous (back to the one drug curing or killing different patients).
  7. We need a well- defined process for parents to understand and assess their INDIVIDUAL RISKS OF HAVING ADDITIONAL CHILDREN. The current protocol basically doesn’t allow an answer without testing a fetus at 20 weeks!

This way, the scientific research is essential to improve understanding of the mutations of the sodium channel-blocking gene (SCN8A) for identifying approaches to mitigate, treat and eventually prevent this devastating disorder.

Find below the results of the survey of families affected:

Photo Credit: annescherrer.com