HELP! MY CHILD WAS JUST DIAGNOSED WITH A RARE DISORDER:
RESOURCES FOR FAMILIES AND PROFESSIONALS WHO CARE FOR THEM
BY LAUREN AGORATUS, M.A.
Hearing a new diagnosis of a condition their child has is hard for parents. It’s even more difficult for families to find information, treatment, and support if it is an uncommon condition.
HOW MANY PEOPLE ARE AFFECTED?
According to the National Institutes of Health, 1 in 10 people (or 30 million people in the U.S.) are affected by the 10,000 currently known rare diseases.1 The Every Life Foundation reports that on average a diagnosis can take up to 6 years and seeing almost 17 providers.2 According to the same study, the economic burden of rare disease was almost $1trillion, including medical costs, employee productivity, and non-medical costs like home modification.
GENETIC AND NEWBORN SCREENING
As diagnosis of rare disorders is difficult and delayed, screen
ing can help catch conditions early when they're easier to treat. Newborn screening tests are state specific. Genetic screening such as SNP arrays can also help detect conditions caused by gene variations. It is important for families to know that screening is an initial result which may refer their child for additional evaluation; it is not a diagnosis.
AFTER THE DIAGNOSIS
Sometimes just having a name of a condition, rather than the unknown, is helpful for families to understand their child’s rare disorder. They will need to find pediatric specialists, as diseases often affect children differently than adults, for example in growth or cognition. Families can try to be matched with a trained volunteer family of a child with the same condition, through Parent-to-Parent. Often rare disorder websites or condition specific organizations offer opportunities to connect. There are also Parent Training and Information Centers to help families with education issues, and Family-toFamily Health Information Centers/Family Voices to help them navigate the healthcare system. There is also financial help for parents of children with rare diseases.
