A Strong and Brave Future

Two years ago Griffin lived a passionate and energetic life. His parents described his life as ‘normal, active and beautifully busy’, playing and running around with his older sister and younger brother; enjoying all the things kids should. However, when Griffin was five and a half everything changed.
It all started when Griffin’s mother, Amy, recognised his first absence seizure. Amy is a paediatric nurse and so recognised the sudden pause in activity, the vacant stare, and unresponsiveness. After noticing the symptoms she quickly sought out medical help. Two days later, Griffin experienced full tonic-clonic seizures and has since had multiple types of seizures that are often and difficult to control.
Moving quickly in some ways and painfully slow in others, this family’s journey encapsulates a whirlwind of emotions. After Griffin’s first seizure, it took an entire year to confirm a diagnosis of r(20). Constant tests and treatment changes have made it a long and difficult road, with the family in a constant battle to find medications that reduce seizures without leaving Griffin heavily sedated. They have tried several treatments, yet have not found the right combination to gain seizure control, and Griffin continues to experience daily seizures. This story reflects one of the many experiences that families of children with r(20) know all too well.
It has been difficult raising awareness of r(20), whether it is with Griffin’s school or expanding this knowledge outside the Ring20 patient family community. Griffin’s mother is his Personal Care Assistant (PCA) and has fought tirelessly for resources. The family is grateful for their strong support system and for educators who help, but it has still been a tough journey.

From hardship came action

Amy and her husband, Luke, have founded the Strong Brave Hopeful Foundation in the US. It offers support to families navigating the challenges of rare epilepsy syndromes like r(20). The foundation partners with hospitals to deliver ‘hope boxes’ filled with comfort items and medical play toys that help children and families prepare for medical procedures. It offers comfort for both the children and parents, showing they are not alone in the journey; whether they are just starting out or still finding their feet. They conduct awareness events and family outreach activities such as walks, golf, tournaments and dinners. In addition, they are working on and now have a partnership with the National Epilepsy Foundation in the US.

More research, testing, awareness needed

Genetic testing, especially karyotyping, has become a clear priority for this family. They believe that wider use of karyotyping could pave the way for certain syndromes to be identified in advance through wider use of karyotyping. As a paediatric nurse, Griffin’s mother and father have noticed the lack of emphasis on neurological and genetic conditions compared with other fields; they want to change that.
Research matters deeply to them because current medications often mask the symptoms and seizures or cause heavy side effects as no medications have stopped Griffin’s daily episodes. Griffin took part in a study at The Children’s Hospital of Philadelphia (CHOP) to contribute samples in order to better understand underlying symptoms. The family believe that deeper research into the biological roots of r(20) and related epilepsies is the only route to treatments that genuinely improve people’s quality of life they deserve.
They also want improved awareness among healthcare providers. Early on in their journey they felt key topics such as SUDEP (Sudden Unexpected Death in Epilepsy) were not discussed by initial providers. In a later consultation, specialists suggested that:

a knowledgeable neurologist could have identified r(20) by specific EEG features sooner

Left confused on this lack of knowledge it leads to the family wanting training, awareness and consistent pathways so other families do not face the same delays.
There are signs of progression that have been noticed; more people within specialist communities are talking about rare epilepsies and families are connecting more than before. But there is still a gap in knowledge with the general public for broader public awareness so that seizures are understood rather than feared or considered as a taboo. It gives space for children with epilepsy to participate in life without stigma or isolation.

Ultimately, their goals are practical and urgent; more research funding, routine genetic testing and stronger provider education. Through the Strong, Brave, Hopeful Foundation Amy and Luke are building programs to directly support families through hope boxes, hospital partnerships and awareness events while pushing for research changes they believe will make the most impactful difference.

Check out their foundation web page here: https://sbhfoundation.org/