by Jessica Dronen, MS, CGC, Genetic Diseases Research and Information Specialist
Welcome to ThinkGenetic’s June genetic book spotlight! In this series we combine a review of one or more books focused on a specific genetic condition while providing general information about that condition during its awareness month. June is Batten disease awareness month, and the third book in our series is “Run to the Light,” by Laura King Edwards.
What is Batten Disease?
Batten disease is the common name for a group of conditions called neuronal ceroid lipofuscinoses (NCL). The name Batten disease was originally used to refer to the juvenile form of neuronal ceroid lipofuscinosis, but it is now being used to refer to the whole group of conditions. Although many people have never heard of them, the neuronal ceroid lipofuscinoses as a group are the most common hereditary progressive neurodegenerative diseases. The neuronal ceroid lipofuscinoses affect approximately 1.3-7 in 100,000 people (this incidence varies depending on the country).
The main symptoms of neuronal ceroid lipofuscinoses include seizures, loss of mental abilities, loss of physical abilities, loss of motor functions, and vision loss. The age at which symptoms appear varies depending on the type of neuronal ceroid lipofuscinosis an individual has. The neuronal ceroid lipofuscinoses are types of genetic conditions called lysosomal disorders. Lysosomes are a part of the cell that helps break down materials into smaller pieces to be recycled or discarded. The genetic changes in Batten disease cause the proteins that break down materials to not work as they should, leading to a buildup of waste products.
June 9, 2021 is International Batten Disease Awareness Day! Visit the Beyond Batten Foundation (BBDF) at https://beyondbatten.org/ or the Batten Disease Support and Research Association (BDSRA) at https://www.bdsra.org/ for more information about the condition, news and ways to get involved. For example, BDSRA will be hosting their free annual Family Education Conference virtually July 23-25. This event will feature 22 sessions created from their community’s feedback. Visit BDSRA or BDSRA Annual Family Conference – Home for more information and registration. BDSRA is also currently hosting Batten Disease Awareness Events online culminating in a virtual 5k run/walk on June 9th. Visit International Batten Disease Awareness Day – Home for more information!
About “Run to the Light”
Above all, “Run to the Light” highlights the love between two sisters. Many other reviewers have called this book inspirational; however, it’s important to be clear that this is not a sparkly fairy tale story where everyone lives happily ever after. This is a story of true love for a dying sibling, warts and all. Readers follow along Laura King Edwards’ journey as she learns of her sister Taylor’s diagnosis of Batten disease, strives to raise funds for a potential cure through the creation of a non-profit organization, and finds her own method of coping through running.
One of the things I appreciate most about this book is that King Edwards writes with such raw vulnerability. She doesn’t shy away from sharing some of her darker thoughts while also highlighting some of the amazing things she and her family did in their fight to find a cure for Taylor. Readers share in moments of hope, joy, anger and sadness. While she and her family hold onto the hope that they will find a cure for Batten disease, the fact that she acknowledges that some days she wants to run away from it all is so important. I also appreciated that King Edwards showed how members of her family reacted to Taylor’s diagnosis and health decline differently. We know that not everyone grieves the same, and while some pour their energy into researching and fundraising like Laura and her mother, others needed to take a different approach.
This book is not only pertinent to families and friends of those with Batten disease. The insights King Edwards shares are applicable to so many individuals in the world of rare disease and to those in the broader healthcare community.
Resources for Siblings of Individuals with Special Healthcare Needs
Genetic conditions affect the entire family. “Run to the Light” highlights one sibling’s story through their sister’s diagnosis and disease progression. However, each sibling’s journey will be different. While we often highlight resources needed for the treatment and care of an individual with a genetic condition, there are also resources available for caretakers and siblings of affected individuals.
One organization that I have had the pleasure of interacting with is SibShops through the Sibling Support Project. Sibshops are regional peer support and education programs for school aged siblings of individuals with disabilities. It is important to note that these groups are not therapy. Per founder Don Meyers, the group aims to bring kids together with shared experiences and play. A group at the University of Washington surveyed adults who participated in SibShops when they were children to see if there were lasting impacts of participation. Per this study over 90% reported that the program had a positive affect on their feelings toward their siblings, over two thirds reported that it taught coping strategies, and over three quarters reported that participation affected their adult lives. There are over 500 regional groups in the United States and around the world. There is also a facebook group for adult siblings called SibNet. Visit https://siblingsupport.org/ for more information about SibShops, to find a SibShop near you, and to find ways to support or get involved.
Another support organization for adult siblings is the Sibling Leadership Network (SLN). SLN is a national nonprofit with over 6,000 members and chapters in 27 states dedicated to providing siblings of individuals with disabilities the information, support and tools to advocate with their brothers and sisters and to promote the issues important to them and their entire families. The SLN provides information and resources to help families of individuals with disabilities navigate the needs of all members across the lifespan, shares research findings related to siblings, and builds a passionate and informed community of advocates for better policies for people with disabilities and their loved ones. This group provides support through several mediums including a listserv which provides opportunities for discussion and updates, policy information, an advocacy toolkit for siblings, webinars, links to helpful resources and more. SLN will be hosting their 8th annual Sibling Leadership Network Conference virtually through Zoom on June 18th and 19th with post-conference sessions offered June 22nd, 23rd and 24th. Attendees at the conference will connect and learn about sibling experiences, hear from national experts on sibling services and supports, explore new research initiatives, learn about pressing issues related to COVID-19, and learn about advocacy opportunities. Visit 2021 Sibling Leadership Network National Conference Program – Sibling Leadership Network for more information and registration.
As always, talk to your doctor about any information presented in this article, on the sites listed in this article, and with any questions you may have about your family’s care.
Conway, S., & Meyer, D. (2008). Developing support for siblings of young people with disabilities. Support for Learning, 23(3), 113-117.
Johnson, A. B. (2005). Sibshops: A follow-up of participants of a sibling support program (Doctoral dissertation, University of Washington).
Neuronal ceroid lipofuscinosis – ThinkGenetic: ThinkGenetic. (n.d.). Retrieved June 7, 2021, from https://www.thinkgenetic.com/