Finding a diagnosis can be challenging. It can take several years for people living with a rare condition. If you feel like something is wrong, but don’t know where to start, or you’ve been through several doctors and don’t know what to do next, these resources may be able to help guide you on the path to answers and care.
Rare Experiences
You are not alone. Read other rare experiences and how patients and families have struggled and advocated to secure a diagnosis.
Zoe’s Story
Mucopolysaccharidosis type IIIA (also known as Sanfilippo syndrome type A)Navigating through an Ultrarare Disease Diagnosis of Mucopolysaccharidosis type (MPS IIIA)
Reyna
CDKL5 Deficiency Disorder (CDD)“This disorder is always two steps ahead of us so we take it one day at a time.”
