How Caregivers Feel When Their Loved Ones Receive a 3q29 Deletion Syndrome Diagnosis

A lot of families seeking care for a child with intellectual disability and developmental delay end up getting a genetic diagnosis. That can be really helpful for more well-known syndromes, where the diagnosis connects to information about treatment and future care.

But what about those who get a rare diagnosis like 3q29 deletion? What is it like for caregivers when not much is known about treatment and the future?

We know the basic outlines of 3q29 deletion—there is an increased risk for mild to moderate intellectual disability/developmental delay, autism, anxiety, and schizophrenia. But there is no “hallmark”—no one thing that all people with 3q29 deletion have or that definitely points to the 3q29 deletion diagnosis.

That leaves many families looking for answers while medical professionals, school staff, and friends and family don’t know how to help. It puts a lot of families in the position of being dismissed or judged for their children’s problems.

Better understanding of the caregiver experience with 3q29 deletion can help providers and the community to support caregivers and their children.

You can read the full study here, or check out this summary below.

About the Study

The researchers talked to 15 caregivers who volunteered from the 3q29 Registry. They asked the caregivers about their experiences and feelings before, during, and after their child’s 3q29 deletion diagnosis.

What the Study Found

The researchers found main themes in what caregivers shared:

Difficult “diagnostic odyssey”

Many spent a lot of time, financial resources, and advocacy looking for doctors, tests and a diagnosis to explain what was going on with their child

Mixed feelings about diagnosis

Upon getting the diagnosis, caregivers felt positive feelings like validation, relief, and greater understanding—diagnosis was key to accessing supports and treatment

AND…

They felt negative feelings like fear, despair, and guilt—the diagnosis meant giving up the hope that the child would “grow out of it”

Frustration with degree of uncertainty

There just isn’t a lot of information to answer caregivers’ questions about what to do and what to expect in the future, and none of the doctors have ever heard of it before

The importance of resources

Caregivers needed information and support along with the diagnosis—and often the information provided at diagnoses just wasn’t enough. Of note, many reported that their doctors didn’t talk to them about the risk of psychiatric disorders in the future, especially schizophrenia.

What It Means

There is a lot of stress and uncertainty in caring for a child with special needs. The whole family needs information and support to find treatment, plan for the future, and feel like they’re not alone.

Primary care providers and non-genetic specialists need to be more aware of when to order genetic testing and how to get the tests approved, so that it doesn’t take so long to get to the diagnosis and appropriate treatment.

Caregivers need better support when getting a rare diagnosis. They need help to manage uncertain and complicated medical information. They need support to get therapy and medical care for their child now, and help to prepare for possible problems—like psychiatric concerns—in the future.