What to expect while you’re looking for or have just received a diagnosis:

For many parents, the diagnosis of a child with a rare disease can be an overwhelming time. While a lot of parents dive right into medical reports and patient support groups, others require time to process these complex emotions before being able to process new information about the rare disease. This is often a time of significant adjustment to new expectations and concerns while also having to absorb lots of new and complex information.

We recommend that you take time to care for yourself and lean on support from family and friends.
Additionally, the following C.A.R.E. strategies can help you feel more prepared:

(C) Centralize Health Information:

• • Keep track of your health information in a centralized, easily accessible location. This might be a notebook or a binder.
  • Avoid relying solely on online health apps, as they may not fully capture the complexity of rare diseases.
  • Facilitate communication between multiple providers, especially if you are seen across different health systems.

(A) Ask Questions:

• • Write down questions or concerns as they come up so you don’t forget about them during medical appointments.
  • Recognize that stress, fatigue, or family responsibilities can make it difficult to remember your thoughts later.

(R) Rehearse Responses:

• • Practice with family members how you want to respond to questions regarding you or your child.
  • Decide in advance how much information you wish to share, especially when faced with insensitive or intrusive questions.
  • Remember: You are not obligated to explain anything.

For Pediatric Patients:

• • • • Involve your child over time in understanding their diagnosis and care.
      • Ask about child life specialists – they can support your child and their siblings in learning about the condition in age-appropriate ways.

(E) Educate Schools & Daycare Teams:

For Pediatric Patients:

• • • • Consult your medical team for guidance on how to explain your child’s needs to school or daycare staff.
      • Proactive communication with educators can help ensure your child’s environment is supportive and safe.

Patient Resources: