Not alone in the dark: New guide for, by caregivers of 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. Click here to read the rest of the story

Rare Disease Day

Date: February 28, 2022

February 28th is the official day of bringing awareness to rare diseases. According to the National Institutes of Health, in the United States, a rare disease is defined as a condition that affects fewer than 200,000 people. Definition of rare disease vary from country to county. In Europe affect 1in 2,000 people and in Canada, more than 3.5 million or 10percent of the population are diagnosed with a rare disease.

Facts You Should Know About Rare Diseases

  • There are over 300 million people living with one or more of over 6,000 identified rare diseases around the world
  • Each rare disease may only affect a handful of people but taken together directly affected is equivalent to the population of the world’s third largest country.
  • rare diseases currently affect 3.5%-5.9% of the worldwide population.
  • 72% of rare diseases are genetic while others are the result of infections.(bacterial or viral).
  • 70% of those genetic diseases start in childhood
  • About 30 million people or 1 in 10 people in the United States are affected by a rare disease
  • 95% of rare diseases do not have FDA-approval treatment

Type of Rare Diseases:

Aicardi Syndrome– A rare genetic disorder that occurs in 1 in 105,000 to 167,000 newborns in the United states and occurs exclusively in females. People with Aicardi Syndrome often have undeveloped tissue which connects the left and right halves of the brain.

Angelman Syndrome– A genetic disorder that affects the nervous system. Characteristics include developmental delays, intellectual disabilities and speech impairments.

Chromosome 22q11.2 (DiGeorge Syndrome)- a rare disorder that is caused by deletion in chromosome 22 located specifically in the middle of the chromosome in the area. It affects 1 out of 4,000 births. Symptoms include developmental delays, poor muscle tone, learning development and feeding issues.

Cri Du Chat– A rare genetic disorder that results when a piece of the 5p Chromosome is deleted. Characteristics include intellectual disability, hyperactivity, and developmental delay.

Dravet Syndrome– A rare form of epilepsy found in children. Symptoms include developmental delays, sleeping conditions, and chronic infections.

Duchenne Muscular– Occurs in 1 out of 3,600 male infants and is characterized by progressive muscle degeneration. early signs include muscle weakness in the hips, pelvic area, thighs and shoulder affecting delayed motor skills, sitting and walking.

Landau Kleffner– Characterized by the gradual or sudden loss of language in children between the ages of 5 and 7.

Lowe Syndrome– Is a rare genetic disorder that affects the eyes, brain and kidneys. It has a prevalence of 1 in 500,000 and mainly affects males.

Prader Willi– A genetic disorder resulting from an abnormality of chromosome 15. It is found in 1 in 20,000 births affecting both sexes. It is also the most common recognized genetic form of obesity.

Rett Syndrome– A neurodevelopmental disorder occurring mostly in females in which the child exhibits reduce muscle tone, and autistic-like behaviors including hand movements consisting of wringing and waving. It is a rare disorder that affects about 1 out of 10,000 children.

Williams Syndrome– A rare disorder with a prevalence of 1 in 7,500 to 20,000 caused by the deletion of genetic material from chromosome 7. Signs and symptoms include moderate intellectual disabilities and learning disabilities.


The rare disease website provides information and resources including getting updates, downloading educational materials, and ways to get involved.