‘Not Alone in the Dark’: New Guide for, by Caregivers of Children With Rare Diseases

The National Alliance for Caregiving, in partnership with Global Genes, has issued a free guidebook, available online, that offers resources and support for caregivers of children with rare diseases.

“The Circle of Care Guidebook for Caregivers of Children With Rare and/or Serious Illnesses” was designed by and for family caregivers so they don’t feel “alone in the dark,” according to a Global Genes press release announcing its publication.

The new guide covers nearly 100 topics related to caring for a child with a rare disease, and features personal stories, a comprehensive set of resources for caregivers, and information on awareness and advocacy initiatives.

It is estimated that approximately 30 million Americans live with a rare and/or serious illness, and about half of them are children, according to the alliance.

“Rare disease caregiving comes with its own set of unique challenges,” said Katie Sacra, a family caregiver to an adult son with a rare disease, and the director of family programs at the Global Foundation for Peroxisomal Disorders.

“Caregivers themselves have created this book to not only pass the torch of advice, but to illuminate the path for you to know you are not alone in the dark,” said Sacra, who wrote the “Welcome” letter featured at the start of the book.

The National Alliance and Global Genes had teamed up in 2018 on a survey of 1,406 family caregivers in the U.S. who were providing care for a person with a rare disease.

“Rare Disease Caregiving in America,” the resulting study, found that 62% of caregivers were caring for a child under the age of 18. These caregivers were found to require a high level of expertise to adequately provide care. They also needed access to specialized information — which can be difficult to find without support.

The study findings, along with listening sessions conducted with caregivers of children with rare diseases, helped shape the content of the new guidebook, published with support from Mallinckrodt Pharmaceuticals. In addition, the National Alliance relied on the guidance of an advisory committee and expert reviewers — including advocates, researchers, and members of rare disease organizations.

“There are few life experiences more existentially challenging than caring for a child with a rare, serious, or life-altering illness,” said C. Grace Whiting, president and CEO of the National Alliance for Caregiving.

The guidebook addresses the process of getting an accurate diagnosis for a rare and/or serious disease, providing “helpful websites” and information on testing programs. It also includes information on treatment and care coordination, covering genetic testing, clinical trials, and support groups.

Designed in part to help caregivers advocate for patient care and support, the 59-page publication offers insight into the cost of treatment, and includes sections on copay assistance, government support, and other funding assistance.

Plus, it covers the ways caregivers can empower their children to manage their disease in all aspects of their life as they grow older, and how caregivers can take care of themselves and their families. One section is titled “Achieving Quality-of-Life as a Family Managing Rare and/or Serious Illness,” while another, called “Education and Recreation” offers information on summer camps, among other programs.

“We hope that this guidebook can provide some insight and guidance during the dark moments facing so many families and lessen the administrative burden of care,” Whiting said. “If we can give back just one hour of time to be present to a parent and child, a sister and brother, a grandparent and grandbaby by saving the caregiver time, we’ll know we’ve made a positive impact for this community.”

The guidebook also features an appendix with a comprehensive list of resources, services, and supports for caregivers, children living with rare diseases, and their families.

“Rare disease is often complex and requires a multi-disciplinary approach to be effective, which is why this inclusive guidebook is a tool all caregivers should have access to,” Sacra wrote in her welcome letter. “Whether you are a new or seasoned caregiver, you will find a fellow caregiver guiding the way throughout this guidebook.”