Building a path towards a brighter future
We are parents of a child with KCNC1-related DEE. KCNC1 Foundation has been inspired by our daughter, when at 9 months of age was diagnosed with this ultra-rare genetic condition. With so few cases known, we were left with very little information. With this, we decided to fight. To fight for our daughter’s future. To do whatever we can to give her a chance to experience life on her terms, not the terms predetermined for her by KCNC1 related-DEE. Join us on our journey as we work to find a treatment for E, and all other children and families affected by KCNC1-related disorders.
Time is brain (Camilo R. Gomez 1993) - as each day passes without a treatment for our children their brains, their nervous system, fails to develop properly. They lose out on the opportunities to build meaningful connections in their brain for learning and development. Each day without treatment is one more day that our children aren’t able to reach their full potential, their brains unable to develop at a pace to sustain development, and they continue to suffer the consequences of KCNC1 disorder. Seizures, movement disorders, vision impairment, hypotonia, intellectual disability. This is their reality. .
Life-altering gene therapies and drug treatments exist for several rare genetic disorders. We know the technology exists, we know there is a way to give these children a fighting chance for a brighter tomorrow; however, Big Pharma won’t invest in treatment for these ultra-rare conditions since there is no financial incentive to support their interest in helping our children. It is up to us, the parents of children suffering from KCNC1, to come up with the funds to develop treatments to cure our babies.
Our mission, our fight for a brighter future is won when there is a cure for our babies suffering from KCNC1-related disorders. This will be accomplished through supporting research to accelerate the path to a cure, raising awareness to identify and connect more patients affected by KCNC1-related disorders, and by providing support to our families.
KCNC1-related developmental and epileptic encephalopathy (DEE) is associated with changes in the spelling of one of the KCNC1 genes. Typically individuals with KCNC1-related DEE do not inherit this from a parent, but it is a new mutation that occurs at the time of conception (de novo). Changes in the KCNC1 gene impact the function of the potassium channel, which impacts the electrical currents in the brain cells.
Features of KCNC1-related DEE include:
➤ myoclonic seizures which present during infancy
➤ hypotonia (low muscle tone)
➤ developmental delay
➤ intellectual disability
➤ movement disorder
Not all individuals will present with the same features; some may not have seizures or low muscle tone. Given the small number of known patients, it is possible that additional features may be added to the list as more research emerges.
Other conditions associated with changes in the KCNC1 gene include Progressive Myoclonic Epilepsy known as MEAK (Myoclonic epilepsy and ataxia due to potassium (K+) channel mutation) and isolated intellectual disability (without seizures or movement disorder). All individuals with mutations in their KCNC1 gene are severely impacted by this disorder. They all have additional barriers to overcome in order to learn and achieve the most basic of skills like sitting, walking, and feeding themselves.
Your contribution supports research towards further understanding KCNC1-related disorders, better care for all those diagnosed with KCNC1-related disorders, and ultimately, a cure.Donate now
Organize a local event for friends and family to come together while raising awareness of KCNC1-related disorders and raise money to donate towards research.