The story of Jennifer
Lucas is an amazing, spunky 17 year old who has captured my entire heart since the moment of his birth. He has a pure and genuine soul. I am proud to call him my son.
Lucas’s life has been affected by an ARID1B mutation which falls under the Coffin Siris Syndrome umbrella. Coffin Siris syndrome officially affects 400 individuals worldwide, but that is a low estimate. True numbers are likely 2-4x that number. Lucas also is affected by a second rare disorder, Lennox Gastaut Syndrome (LGS). We know of only two other children worldwide with both ARID1B/Coffin Siris Syndrome and LGS.
Lucas’s rare genetic mutation (ARID1B) has caused some incredible challenges for Lucas throughout all aspects of his life.
He’s a nature lover, music lover (Elton John is his favorite), enjoys swimming, horse back riding and family. His mutation impacts his motor skills and endurance so accessing and sustaining energy to participate in these activities he loves is challenging. It is not uncommon for him to need a nap following a couple of hours of activity.
Lucas struggles to communicate orally so he uses physical and augmentative communication. He often relies on others to help him get his needs met.
Lucas developed severe and frequent seizures at the age of six years old with no advanced warning. These seizures gradually became life threatening and unable to be controlled with medication. This syndrome is Lennox Gastaut Syndrome. He’s had somewhere around 7,000-8,000 seizures in the past 11 years, with the most recent tonic clonic three hours ago.
He’s had seizures nearly everywhere you can imagine- on hikes, on horses, on airplanes, in swimming lessons. His epilepsy has caused him to be resuscitated in the hospital and just last weekend, he was placed in the ICU on a breathing machine and under general anesthesia due to the impacts of seizures and the rescue medications he needed to save his life.
The seizures are by far his biggest health issue and biggest risk he faces. Lennox Gastaut is life altering and life threatening.
It is a catastrophic epilepsy syndrome, taking the lives of children and robbing joys most people take for granted.
Rare disease awareness is important to me because treatments and awareness can dramatically improve Lucas’s life. On the horizon are targeted treatments geared to the exact genetically based mechanism causing Lucas’s seizures, but they have not yet been developed because we need funding for the research to get there.
We need funding and research to get there. Lucas deserves a chance to enjoy his life and deserves a full future.