Rare diseases affect nearly one in 10 Americans, and more than half of those affected are children. The urgency and pressures faced by parents, siblings or loved ones caring for a child with a rare disease are immense and constant. The Circle of Care Guidebook will help Caregivers more easily navigate through the needs and challenges of caring for children with rare and serious illnesses, and find the right next steps to take on their behalf.
Courageous Parents Network (CPN) is a 501(c)(3) nonprofit organization and digital platform developing and publishing resources to help parents and providers caring for seriously ill children mutually understand each other; communicate more effectively; make decisions together--and in so doing, change and improve the patient, family and provider experiences.
More than 500 videos and podcasts of families and providers discussing a wide range of subjects, from diagnosis to family care to advance care planning to bereavement.
Downloadable guides to help families navigate the care “system” and important decisions; podcasts; curated modules on topics of particular interest; and a blog.
Provider Portal, a section of CPN that includes content on best practices in communicating and shared decision-making, and a Video Search Tool for easy, convenient identification of materials to share with patients and colleagues.
Mary-Frances Garber, MS, CGC is a Licensed Genetic Counselor. Her counseling is intended to complement the more traditional genetic counseling that is offered in medical centers. Her focus is on the emotional responses patients and their partners may have following various obstetrical, pediatric or adult genetic concerns.
Each person is unique in the way they respond to these issues. Supportive genetic counseling may involve a one-time visit or multiple sessions, whatever it takes to initiate healing and moving forward. Patients are seen in a private office setting in Needham, Massachusetts or via a HIPAA compliant telemedicine platform.
An exploration of what it means to have a sibling with a life-threatening illness.
When a child in the family has a rare and life-threatening illness, the entire family is affected, especially the child’s brothers and sisters. These siblings have deep feelings, questions, worries. Their experience is very unique and they often feel different and isolated from their peers. They are also proud, dedicated and loving of their sibling who is sick. And they can be wise beyond their years.
Through the program, NORD will provide financial assistance to eligible caregivers covering up to $500 annually so that a respite caregiver may be secured to care for a loved one.
MitoAction’s mission is to improve the quality of life for children, adults, and families living with mitochondrial disease through support, education, outreach, advocacy, clinical research initiatives and by granting wishes for children affected by mitochondrial disease.
Canada's only patient-focused organization for mitochondrial disorders. Active in communities across the country, our mission is to improve the treatment, quality of life, and long-term outlook for all individuals affected by mitochondrial disease. MitoCanada, through greater public awareness, seeks to promote early diagnosis, patient and clinician education, and to fund advancements in new treatments until a cure is found.
Champ Foundation's mission is to support research to find treatment and a cure for SLSMDS (Pearson syndrome, KSS, CPEO).
Cure ECHS1's mission is to fund ECHS1 gene therapy research at UT Southwestern Medical Center in Dallas, Texas. As there is no cure or treatment for our children’s disease, gene therapy is the only chance for several rare genetic diseases such as ECHS1 Leigh-like syndrome.
Through financial aid and advocacy, the organization seeks to improve the quality of life of those affected by these diseases by improving their access to prescription drugs, vitamins, supplements, orthotics, and mobility devices.
NUBPL foundation's mission is to raise awareness and fund research towards the development of life-saving treatments and a cure for NUBPL.
Article from NPR which we hope would be comforting to those dealing with grief and loss
This is a podcast that explores the world of raising children with disabilities and rare genetic disorders. Host, Effie Parks, shares her own personal story of raising a child with CTNNB1 syndrome, while trying to find the non-existent rule book of bringing up such a special kid. This podcast features interviews with fellow parents, therapists, doctors and anyone else who wants to share their story.
Our goal is to slow the progression of C12orf65 Leigh syndrome while working towards a cure for Jaxson and future generations. Gene therapy looks to be a promising life-extending treatment for Leigh syndrome (C12orf65). The field of gene therapy has gone through remarkable breakthroughs these last few years and offers incredible promise for rare genetic diseases such as C12orf65 Leigh Syndrome.