Get to Know Cure GABRB2
Updated: Apr 26, 2022
GABRB2 epilepsy has a range of phenotypes from febrile seizures to severe developmental disabilities, epileptic encephalopathies and movement disorders. Recent studies document 25 or fewer cases each. The cause of disease is believed to be loss of GABAergic inhibition.
GABRB2 Clinical Features
Children and young adults with GABRB2 epilepsy often experience frequent, intractable seizures (sometimes upwards of 100 per day), movement disorders, hypotonia, severe developmental delays and regression, frequent respiratory illness, hypotonia, spasticity, cortical-visual impairment, are non-verbal or have limited speech, feeding challenges, and sleep disorders.
Get to Know Cure GABRB2
We now support a group of less than 100 families worldwide who have found each other through Facebook. We started with a group of about 6 people in 2017, mostly with young children. We welcome new members and try to give them information and support as they first learn about a rare condition with no real treatments. Over the years, we have heartbreakingly seen several children in our small group pass away due to this condition, some whose lives we have all followed as they have been chronicled in our group. For others, there are many hard struggles with very complex medical issues that can be
overwhelming to families. As we are beginning to fund research into this condition and possible treatments, we urgently need to raise additional funds to support and advance these projects so we can find treatments soon.
I am Especially Proud of...
While we have launched an organization and participated in research, our community's support of one another as young parents who are often overwhelmed when confronted with this disease is the most important. The parents who find us usually feel alone in their journey. Many of us have connected and made personal friends with other parents in the group, often supporting each other through extreme struggles with their children.
Excited to REN Because...
We envision REN as a place to connect with other Rare Epilepsy groups and share ideas on how to advocate and grow to better position ourselves and others to better help the families which we serve.
My Journey and Motivation...
My son began having seizures at two months of age and was diagnosed with this disease, a severe phenotype. There was a published study with two children and no other places to turn. We started an online group at the recommendation of a study author we connected with. We found about 90 families over four years, with many posting questions or updates about their child's life. Two of the children from our group, of parents whom I spoke with regularly, passed away very young within a short time. We saw the struggles that these families went through since their lives were chronicled regularly in our group forum. These children had a severe phenotype, just as my son. Our hearts were all broken by the passing of these beautiful children.
By Justin LeBlanc, Cure GABRB2 support group leader