Guidebook for Caretakers for Children with Rare Disease

“Rare diseases affect nearly one in 10 Americans, and more than half of those affected are children.” – Global Genes

Living with and caring for a child with a rare or serious illness has unique challenges and unique rewards. Oftentimes, the mainstream advice for caregivers doesn’t apply.

Caregivers face a long road to getting an accurate diagnosis, navigating options for treatments, advocating for support services, and finding a way to pay for out-of-pocket expenses. Additional obstacles arise when doctors, teachers, childcare centers, and other community members don’t understand the illness or how to accommodate the child’s needs. It all can feel like too much to bear alone.

That’s why all of us at Know Rare were so encouraged to learn that the National Alliance for Caregiving (NAC), in partnership with Global Genes, has released a new handbook specifically for Caregivers of Children with Rare and/or Serious Illnesses.

“The Circle of Care Guidebook is intended to help Caregivers navigate through the varied experiences and challenges of rare and serious medical conditions, guided by the insights, achievements, and learnings of other caregivers and experts,” NAC says.

The Guidebook covers almost 100 topics related to every aspect of life and care in families where a child has a rare disease. What sets the book apart from other resources we’ve seen is that every topic -- every single nugget of advice -- comes from extensive research and conversations with not only medical or community experts, but real families and caregivers who shared their hard-won insights.

We wanted to highlight just a few of the useful topics we found in the Guidebook. To read the book in its entirety and to learn more about the National Alliance for Caregiving, its resources and partners, click here.

Quality of Life

Most resources for caregivers focus on the medical aspects of rare disease, such as finding the right care team, and navigating symptoms and treatments. But what about quality of life, both for the child living with rare disease and for the family members who support them?

A few ways the Guidebook suggests improving quality of life for caregivers and children include:

Education and recreation opportunities such as Special Olympics, summer camps, group sports that accommodate children with medical needs, or Athletes Serving Athletes.
Inclusive family vacations and wish-granting organizations are also a great resource. The key is to look for destinations and organizations that have specially trained staff and medical resources that your child may need. The Guidebook lists several examples, along with their websites to learn more. Many of the organizations they recommend offer enrollment on a sliding scale or free of charge.
For peer support, connect with groups that truly understand what you and your child are going through, such as disease advocacy groups, support groups (online or in person), or private groups on social media.

Caring for Your Partner

Strong, nurturing relationships with a partner or spouse are extremely valuable when navigating the world of caregiving and rare disease. Unfortunately, tending to other relationships can be hard when all your energy is focused on your child. “Studies have found that the stress of managing day-to-day family responsibilities while caring for a child with a rare and/or serious illness plays a role in the caregiver’s psychological and physical health,” the NAC says. Yet, family support is one of the best remedies for emotional stress.

To boost support for you and your partner, the guidebook suggests the following:

Spend some time defining roles and responsibilities, including caregiving, household work, and financial management. Doing this in the presence of a therapist or counselor may help.
Communicate often to assess how each other is doing, to ensure you’re on the same page regarding the caregiving roles and treatment plans.
And, make sure each partner has time off, as well as dedicated time for the two of you to connect with one another without your child, if possible. Many communities and hospitals offer access to respite care and parents’ night out.

Siblings as Caregivers

Another topic the Guidebook covers is how to support siblings of children with rare or serious illnesses. Siblings are often exposed to responsibilities and challenges that are distinct from siblings in typical families. “While many siblings have described increased empathy, cooperation, and appreciation as a result of their experience, siblings of children with chronic illness are more likely to suffer from depression, anxiety, or other negative psychological outcomes.” NAC found.

Siblings may feel left out or overlooked in the family system. They may feel grief or anxiety over their family’s future. Or, they might be overwhelmed with the responsibility to caretake their sibling, often when they are young and still need care themselves. Adults can help in the following ways:

Ensuring that siblings receive adequate time, nurturing, and support.
Don’t ask siblings to take on more than they can handle or are willing to do.
Outside support from a therapist or sibling group (see siblingsupport.org for examples) can help siblings cope with the mix of feelings they may have.
Resources such as Courageous Parents Network (www.courageousparentsnetwork.org) and the Sibling Leadership Network (siblingleadership.org) also provide tools and information to better understand a sibling’s experience and to directly support siblings.

Clinical Trials for Children with Rare Disease

Another often overlooked option for children with rare or serious illness is clinical trials. As new therapies and treatments are developed, they must undergo a process of evaluation and approval by the Food and Drug Administration. Once approved by the FDA, these treatments are made available to the public. The process to gain approval includes conducting clinical trials on select groups of individuals who are likely to benefit from the treatment. A few things to keep in mind:

Enrolling in these trials may be an option for some children, particularly if other treatments do not work or there are no other treatment options available.
Getting information about clinical trials and determining eligibility can be a daunting process. Trials typically have a limited number of openings and have very specific requirements to qualify. A database of privately and publicly funded clinical studies conducted around the world can be found at www.clinicaltrials.gov.
Know Rare also specializes in connecting people with rare conditions to appropriate and life-changing clinical trials. To learn more about the trials we’re recruiting for or to connect with experts who may be able to help your child, use our Find a Study page or contact us.

Care for Underrepresented Groups

Finally, it’s important to recognize that treatment and research participation is lower for underrepresented groups designated by race, ethnicity, gender, age, and socioeconomic status. We still have a long way to go to overcome bias in the medical community, in education systems, and in the research field. The Guidebook offers tips specifically for underserved populations to advocate for equal access to care and treatments.

Doctors, hospitals, educators, parents, and community members are encouraged to be allies, examining their own unconscious biases and reaching out to connect and support underserved families. As the NAC notes, “Lack of diversity in research participation can have serious consequences, including being unable to generalize study results to advance effective therapies, and preventing some populations from experiencing the benefits of research innovations.”

Two resources that the Guidebook recommends:

In January 2021, the Black Women’s Health Imperative (BWHI) formed the Rare Disease Diversity Coalition to focus on reducing racial disparities in the rare disease community. The group is made up of rare disease experts, health and diversity advocates, and industry leaders. www.bwhi.org
In May 2021, Global Genes launched its RARE Health Equity Council (www. globalgenes.org/the-rare-health-equity-leadership-council) to aid in efforts to better address diagnostic, access, and treatment gaps and challenges for underserved and underrepresented rare disease patient populations.