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.

An Overview of Cri du Chat Syndrome

Published by: Verywell Health
Written by: Abby Norman

Cri du Chat Syndrome (French for “cat cry”) is a rare chromosomal disorder caused by missing or deleted portions of chromosome 5. Infants who are born with the syndrome often have a high-pitched cry that sounds like a cat, hence the condition’s name. Since the condition occurs due to missing portions of the short arm (p) of chromosome 5, Cri du Chat is also known as 5p- (5p minus) syndrome.

Close-up of a crying baby.
Dimitri Otis/Getty Images


The key physical characteristics and symptoms of Cri du Chat syndrome are caused by missing or deleted genes in the small arm (p) of chromosome 5. Researchers suspect that the specific set of symptoms associated with Cri du Chat, and the severity of those symptoms, is linked to the size and location of the deleted or missing portion of the chromosome.

Like other chromosomal disorders, the symptoms and severity of the condition vary from person to person. However, there are a few key manifestations of the condition that are noticeable from birth. These hallmark features include:

  • Low birth weight
  • Poor sucking reflex
  • Slow growth or failure to thrive
  • A high-pitched, mewling cry that sounds like a cat
  • Low muscle tone

While they may not have all of the features, many newborns with Cri du Chat have distinct physical characteristics, including:

  • A small head (microcephaly) and jaw
  • An abnormally round face
  • Malocclusion of the teeth
  • Wide-set, downwardly slanted eyes
  • Extra skin folds around the eyes
  • Low-set ears
  • “Webbing” of fingers and toes (syndactyly)
  • Cleft lip or cleft palate

As children with the condition grow up, they may begin to show and experience a spectrum of symptoms related to Cri du Chat, as well as other disorders commonly found in people diagnosed with the condition, including:

  • Motor, cognitive, and speech delays
  • Moderate to severe intellectual disability
  • Psychomotor disability
  • Seizures
  • Autism-like behaviors, such as hand flapping, rocking, and noise sensitivity
  • Scoliosis
  • Congenital heart defects (around 15–20 percent of patients)
  • Hernias
  • Behavioral issues such as tantrums and poor attention/impulse control
  • Walking with a slow, guarded gait or the need for mobility aids, including wheelchairs
  • Self-destructive behaviors like head banging and skin picking
  • Recurrent infections (particularly respiratory, ear, and gastrointestinal)
  • Nearsightedness
  • Constipation
  • Kidney or urinary abnormalities
  • Premature graying of hair
  • Trouble sleeping
  • Toilet training issues


Cri du Chat syndrome was first described in 1963 by a French pediatrician named Jérôme Lejeune. Lejeune is most well-known for discovering the genetic basis of trisomy 21 (Down syndrome). Click here to read the rest of the story

International Angelman Day

Date: February 15, 2022

What is Angelman Syndrome?

Angelman Syndrome is a genetic disorder that affects the nervous system, characteristics that include developmental delays, intellectual disability, and speech impairments. Angelman syndrome generally go unnoticed until the age of 1 year. Children typically have a happy demeanor and have a fascination with water

  • developmental delay
  • intellectual disability
  • epilepsy
  • microcephaly
  • short attention span
  • happy demeanor
  • hyperactivity
  • hand-flapping
Associated Behaviors
  • tongue thrusting
  • feeding problems during infancy
  • sensitivity to heat
  • frequent drooling
  • attraction to water

Angelman Syndrome  is  a rare disorder and affects 1 in 12,000 to 20,000 a year. Equally to less than 200,000 case a year. Affects all ethnicities and sexes equally.


Website: International Angelman Day – FeASt – FAST (

Teaching Students with Angelman Syndrome – Special Needs Resource and Training Blog (

Angleman Syndrome and Adulthood – Special Needs Resource and Training Blog (


Tracking Eye Movements Can Measure Chronic Desire to Overeat

Published by: Prader Willi Syndrome News
Written by: Steve Bryson

Tracking the eye movements of children with Prader-Willi syndrome (PWS) may be a non-invasive, low-cost, and reliable method to assess their chronic desire to overeat, known as hyperphagia, a study suggests.

The study, “Eye tracking as an objective measure of hyperphagia in children with Prader‐Willi syndrome,” was published in the American Journal of Medical Genetics.

One of the hallmarks of PWS is an insatiable appetite that leads to hyperphagia and obesity.

The primary source of information about hyperphagia comes from questionnaires which, while specifically focusing on symptoms, are an indirect measure and can be subject to bias. As such, more objective ways of measuring hyperphagia are needed to help support research and clinical trials.

Eye tracking is a non-invasive way of measuring specific physiological processes. Research has shown that stimuli in the visual field that attract one’s attention are linked to a higher number and longer duration of eye gaze fixations, or looking at a single point.

recent food-based eye tracking study investigating children and adults with PWS found an increased number of gaze fixations and repeated gazes at the same item (perseverations) was associated with higher (more severe) hyperphagia scores, as reported by caregivers. Notably, this was only observed when food items were presented along with animals, given that people with PWS have a well-known strong desire to care for babies and animals.

In the new study, researchers at Vanderbilt University Medical Center, along with investigators at Case Western Reserve University and Istanbul Medipol University, in Turkey, designed an eye-tracking study to test its ability to measure hyperphagia in young children with PWS, ages 3–11.

As hyperphagia develops gradually over a wide age range, examining gaze patterns in response to food may be a sensitive way to determine hyperphagia-related changes, the scientists said.

A total of 57 children were recruited along with 47 typically developing children as a comparison group. While there were no differences in age or body mass index (BMI) between the two groups, children with Prader-Willi had lower IQ, as assessed with the Kaufman Brief Intelligence Test-2.

Hyperphagia was assessed using the 9-item Hyperphagia Questionnaire-Clinical Trials filled out by parents, which measures hyperphagic behaviors, drive, and severity — including persistence in food-seeking and reactions to food restriction. Responses were based on behaviors across different environments, such as home, school, and the community, during the two weeks before the assessment.

In addition, parents in the PWS group completed a survey to determine their child’s nutritional phase — ranging from failure to thrive to full hyperphagia.

Color images of common foods, animals (in non-aggressive poses), and household objects served as the visual stimuli. Click here to read the rest of the story.