It’s very common to feel lost with a new diagnosis - particularly when it is such a rare condition. Firstly, know that you are not alone. Our global network of parents are here to help!
Before receiving a diagnosis of YWHAG, you and your child’s healthcare provider probably noticed that your child exhibited developmental delays, which hopefully resulted in a referral to Early Intervention (In the USA, often known as “Birth to 3” and available to all qualifying children, through the age of three and sometimes beyond, in every state under federal law.) Once your child has received a diagnosis, it is imperative that you meet with your pediatrician or another qualified professional and your school district to ensure that appropriate interventions, including early intervention, special education and related services (physical therapy, occupational therapy, speech and language therapy, etc.), are being provided.
I HAVE A NEW DIAGNOSIS. WHAT CAN I DO NOW?
Currently, there is no way to cure YWHAG-related disorders, and treatment depends on the type of symptoms that a person has. Everyone with YWHAG is recommended to be seen by a specific neurologists: an epileptologist is a neurologist who specializes in the treatment of epilepsy, a neurogeneticist is an expert in neurological conditions caused by genetics. Neurologists also specialize in the treatment of ataxias and hemiplegic migraines. If YWHAG is causing developmental differences in a child, then developmental pediatricians can be a helpful resources for evaluating and recommending interventions.
While there is currently no cure for YWHAG, a genetic diagnosis can provide an answer for the symptoms an individual is experiencing and access to appropriate treatments. Significantly, a diagnosis can also provide a means of connecting to other individuals and families affected by YWHAG.
YWHAG patients often require many types of therapies and visits to various specialists to address co-morbidities. The amount of care needed for a loved one can leave rare disease caregivers feeling exhausted, overwhelmed and socially isolated. The effects of YWHAG-related disorders are far more than just managing symptoms and can impact multiple areas of a family’s life. It is crucial to find a support system that may consist of family, friends, therapists, and respite care. Be sure to ask for help and let others know when you are feeling anxious, overwhelmed, or depressed. Find support from other parents who understand the challenges of being a YWHAG caregiver by joining the private Facebook group.