Soon after Emma Young was born, she was diagnosed with a rare genetic disorder called Bannayan-Riley-Ruvalcaba syndrome (BRRS). At two months old, she battled COVID-19. Then she was diagnosed with autism at age two. Although Emma has faced challenges since the very beginning, she remains a bubbly, happy, and chatty little girl.
While Emma has overcome numerous obstacles, she still sometimes struggles with communication or finds herself overwhelmed in certain moments. Her parents believe that getting an ADA-certified service dog will help Emma on her journey. This dog can help with certain tasks and also emotional management.
NBC DFW reports that the family has been approved for a service animal through 4 Paws for Ability, a nonprofit organization that aims to enrich the lives of people with disabilities by placing trained service dogs. While 4 Paws for Ability does an amazing job of fundraising, and covers a majority of the cost, the family must still raise $20,000. They have raised over $3K so far and counting.
You may follow along with the family’s journey on Facebook. If you would like, you can also donate to the cause.
A Brief Overview of Bannayan-Riley-Ruvalcaba Syndrome (BRRS)
Bannayan-Riley-Ruvalcaba syndrome exists under the greater spectrum of PTEN hamartoma tumor syndrome. This rare genetic condition typically results from PTEN gene mutations. Normally, this gene acts as a tumor suppressor. So when it mutates, people with BRRS develop hamartomas (benign, tumor-like growths) in the intestines and throughout the body. Benign and cancerous tumors may also form. BRRS is a variable condition; symptoms and severity may differ significantly from person to person. Potential symptoms can include:
- Macrocephaly (a larger-than-average head size)
- Hamartomatous intestinal polyps
- Lipomas (benign tumors that form in fatty tissue)
- Muscle weakness
- Joint hyperflexibility
- Hypotonia (low muscle tone)
- High birth weight and length
- Developmental delays
- Dark freckles on the penis
- Sunken breastbone
- Learning disabilities
- Autism spectrum disorder
- An enlarged thyroid gland or other thyroid issues
- Scoliosis
There are no BRRS-specific treatments. Treatments should be tailored to symptom management for each person. However, people with BRRS should undergo regular cancer screenings as their risk of certain cancers may be higher.
