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Massachusetts Becomes One Of The First States to Proclaim February 24th as SCN2A Awareness Day

10 year old Colin suffers from SCN2A related epilepsy

The FamilieSCN2A Foundation Announces Massachusetts Recognizing February 24th as SCN2A Awareness Day

We accomplished our first goal: to get SCN2A on the map (of diseases worth studying) and now we are fighting to take the science to the next level, a cure for our children.”
— Carla Forbes
BOSTON, MA, UNITED STATES, February 24, 2022 /EINPresswire.com/ -- The FamilieSCN2A Foundation, a nonprofit organization established to improve the lives of those affected by SCN2A related disorders, today announced that the state of Massachusetts signed a proclamation declaring February 24 as SCN2A Awareness Day.

The significance of the February 24th (2/24) date comes from the location of the SCN2A gene on the long (q) arm of chromosome “2” at position “24.3.” SCN2A encodes voltage-gated sodium ion channel Nav1.2. Sodium ion channels play a key role in a cell’s ability to generate and transmit electrical signals. Mutations or deletions of this gene are associated with autism, epilepsy, and other neurological issues such as movement disorders, cortical visual impairment and dysautonomia.

“SCN2A related disorders affect patients in a wide spectrum ranging from severe, life threatening conditions to intellectual disability, and almost all patients will live a life completely dependent on others for their care and safety,” said SCN2A Executive Director Leah Myers. “The recognition of February 24th as SCN2A Awareness Day will continue to help our efforts for early diagnosis, treatment and ultimately a cure for those suffering from this devastating disorder and to protect future lives.”

“Today we mark International SCN2A Awareness Day for the first time in Massachusetts,” said Senator Eric P. Lesser. “FamilieSCN2A Foundation, co-founded by Carla Forbes, a resident of East Longmeadow, works to spread information about this rare, devastating condition that impacts 1 in 9,000 people. It is our hope that this day highlights those affected by SCN2A related disorders and sheds light on the need for increased support, research, and awareness.”

Carla Forbes said: “We accomplished our first goal: To get SCN2A on the map (of diseases worth studying) and now we are fighting to take the science to the next level, a cure for our children."

SCN2A related disorders have recently been identified as the leading single gene cause of autism and epilepsy. Do you know someone with autism or epilepsy? If so, encourage them to talk to their clinicians about genetic testing and visit our website for additional resources.

The public can help amplify SCN2A voices by wearing the Foundation's colors on February 24th: purple (epilepsy,) blue (autism) and/or green (movement disorders) and sharing information about SCN2A related disorders with others.

The FamilieSCN2A Foundation started in 2015 with fewer than 100 families and now represents more than 1000 families around the globe. The Foundation not only offers direct support to families affected by this devastating disorder, but is also the largest non-government funding source for SCN2A research, primarily from grassroots donors. For more information, please visit www.scn2a.org.

Leah Myers
FamilieSCN2A Foundation
leah.schust@scn2a.org
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