The portrait of a young Minnesota girl has joined an exhibit that travels the world to raise awareness of children living with rare diseases. Recently, Children’s Minnesota had the honor of hosting 6-year-old Brielle and her family as they unveiled Brielle’s portrait from the Beyond the Diagnosis exhibit for the first time. Brielle lives with Beck-Fahrner syndrome, a rare genetic disorder. She is a patient in the genomic medicine program at Children’s Minnesota.
Brielle’s journey
Brielle was born in October 2017. She received multiple diagnoses in her first few years of life, including autism, developmental delay and low muscle tone. Her mother Jaime began pursuing genetic testing in 2020 to learn if her daughter’s diagnoses were somehow connected. Brielle was diagnosed with Beck-Fahrner the next year, when she was 3. Brielle is one of approximately 60 people worldwide who have been diagnosed with the syndrome since it was first identified in 2020.
Symptoms of Beck-Fahrner syndrome can differ from person to person. The syndrome is characterized by developmental delay and intellectual disability. Other common symptoms can include movement disorders, autistic features, attention-deficit hyperactivity disorder (ADHD), anxiety and facial and growth differences.
There is no cure for Beck-Fahrner syndrome. However, with a name to put to her condition, Brielle has been receiving the appropriate treatment and care to manage her symptoms.
About Beyond the Diagnosis
Beyond the Diagnosis is an art exhibit uniting art and science to bridge the rare disease knowledge gap, promote inclusivity, remind everyone about the real children impacted by these life-altering diseases and inspire more research. Each portrait in the exhibit represents a child living with a rare disease, meaning a disease that affects fewer than 200,000 people in the United States. The portraits were created by artists who donated their time and talents. Since its debut in 2015, Beyond the Diagnosis has visited hospitals, medical schools, research institutes and galleries around the world.
Portrait unveiling
Brielle’s portrait was created by artist Robert Francis Whelan. It joins 10 other Beyond the Diagnosis portraits on display at Children’s Minnesota hospital in Minneapolis through early November. The unveiling of Brielle’s portrait was incredibly meaningful for her family.
“Like Brielle, the children represented in these portraits are so much more than their diagnosis or labels. These portraits show the resiliency and beauty in challenges. It’s our hope that these precious faces will inspire the medical and research communities to investigate more in rare disease,” Jaime said.
Even at her young age, Brielle is already helping researchers better understand Beck- Fahrner. She was the first person to give a biological sample for the first cell and molecular study of the disease. She has also participated in behavioral based research to help establish a neuro-psychological profile for individuals with the syndrome.
Jaime said her daughter has given her family a new way to see the world. “You may not express yourself in ways that are typical. But through every challenge you’ve taught me patience and understanding. Your courage and resilience remind me that no challenge is too great when faced with love.”
