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

Teaching Students with 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

Symptoms
  • 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
Prevalence

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.

Angelman Syndrome-Bridges for Kids

Angelman Syndrome Educational Material

Angelman Syndrome– Ontario Teachers Federation

Angelman Syndrome– National Association of Special Educators

Angelman Syndrome in the Classroom- Puzzle Place

Communication strategies for children with Angelman Syndrome– Cleveland Clinic

Education Resources- Angelman Resources

Some Angelman Tips– Teaching Learners with Multiple Special Needs

Working with a child who has Angelman Syndrome– St. Cloud State University

Writing instruction for students with Angelman Syndrome– PracticalAAC

Anxiety, Movement Disorders May Increase With Age in Angelman Patients, Study Finds

Anxiety and movement disorders may increase with age in adults with Angelman syndrome, while the prevalence of seizures may decrease, a study suggests.

The results also call into attention the need for better monitoring and treatment, provided by a multidisciplinary medical team, to improve quality of life in the adult Angelman population. That’s because sleeping, gastrointestinal and bone disorders remain a significant issue for many adults with this condition. Read the rest of the story here

Things To Know About Angelman Syndrome

Today is International Angelman Syndrome Day. It is a day to bring awareness to this disorder.

Image result for angelman syndrome infographic

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

Epilepsy Seizures May Promote Autism Symptoms in Angleman Syndrome, Study Finds

Epilepsy Seizures May Promote Autism Symptoms in Angelman Syndrome, Study Finds
Written by: Patricia Inacio. Ph.d
Published by: Angelman Syndrome News

Epileptic seizures contribute more than previously thought to autism symptoms in patients with Angelman syndrome, according to researchers.

The study, “Effect of epilepsy on autism symptoms in Angelman syndrome,” was published in the journal Molecular Autism. Autism and epilepsy often co-occur in patients with Angelman syndrome, but the extent to which the association between autism symptoms and epilepsy is due to shared aetiology or to the direct effects of seizures was unclear. Click here to the rest of the story.