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Family-to-Family

The Journey of a Diagnosis
By Regan Zwald, Health Information Specialist

En Español
 

Some families receive a child’s diagnosis on a straightforward path. Screening happens without delay, testing provides a clear result, and a family can move forward with information and a care plan for their child. For many families, though, a diagnosis is part of a long, winding journey marked by confusing signs, unexpected detours, and no GPS guidance.

One family’s story

Patrice Smith and her family of Westfield experienced a roundabout diagnostic journey with their oldest child, Cydney, who is now 11. Cydney’s delays and motor disabilities were treated as Cerebral Palsy (CP) until she was 3 years old. That clinical diagnosis did not fully explain Cydney, however, and her parents searched for a more complete diagnostic picture for several more years. Patrice sought additional opinions as a way to better help her daughter: “How can I fix this if I don’t know what it is?”

Undiagnosed Land

My own family spent two years traveling this lonely path as we searched for a name and a care plan for our then-toddler’s developmental problems. We, too, had to push for genetic testing, question medical professionals, and seek multiple perspectives before arriving at our child’s diagnosis. While our answer was not one that any parent ever wants to hear, knowing an answer was much easier than living in the place I came to think of as Undiagnosed Land.

According to Global Genes, this is not unusual: families may spend an average of over seven years and consult seven or more clinicians while on the journey of a rare disease diagnosis. Underserved communities face additional barriers and challenges to accessing care.

Asking questions 

For Patrice and her family, as with mine, a diagnosis did not provide the treatment or “fix” we may have once hoped for. Cydney’s long-sought genetic diagnoses, however, along with her treatment and care plan, have provided a measure of peace for her family. “We can pick and choose what works for our family and contributes to Cydney’s quality of life,” Patrice notes.

Particularly when it comes to medically complex children, Patrice encourages parents to listen to their intuition: “If you have something telling you this is not quite right, ask those questions, and get a second opinion.”

Genetic counselor Katelyn Payne at Indiana University concurs with Patrice’s push for additional testing. She recommends that families who are seeking a diagnosis may consider following up with a medical geneticist or genetic counselor every two to three years. “We are identifying new genetic conditions regularly, and a gene change that may have been unknown a few years ago could now be characterized and labeled as a syndrome,” Payne writes.

The path ahead

In many cases, either a genetic or a clinical diagnosis can help families access appropriate supports. Expanded telehealth access has made seeking opinions and testing easier for many families. It is important to know, however, that not all supports and services require a specific diagnosis. You don’t need to wait, and you don’t need to be alone on the journey. Contact Family Voices Indiana if you have questions about accessing supports or care for your child with special health care needs.

Resources for You

Global Genes: https://globalgenes.org

National Organization of Rare Diseases (NORD) Undiagnosed Registry: https://undiagnosed.iamrare.org

National Society of Genetic Counselors: https://www.aboutgeneticcounselors.org

Patrice Smith’s project: SheSmiles.us 

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