Lauren Bruccoleri and her husband Matthew weren’t initially planning on having their son Grayson. But when Lauren found out that she was pregnant, she was overjoyed. However, Lauren and Matthew faced an unexpected challenge when Grayson, now two years old, was diagnosed with Rubinstein-Taybi syndrome (RTS) at birth. According to 13 News Now, Grayson’s RTS presents with some feeding difficulties; he has difficulty with formula. The Bruccoleri family is now searching for any assistance in finding or receiving donated breast milk.
For a few months following Grayson’s birth, Lauren provided her son with breast milk. But she soon found her milk supply dwindling. Matthew and Lauren searched for help from milk banks in hospitals like the Children’s Hospital of the King’s Daughters. Unfortunately, supplies are low, especially due to complications and shortages that have amplified over the past two years. If you would like to donate to this milk bank, you can learn more by emailing [email protected] or calling 757-668-6455.
To help her son, Lauren enrolled Grayson in different formula trials. But she also turned to social media for help. Mothers from across the United States chipped in to send breast milk to the Bruccoleri family. Although Grayson was unable to consume much of the donated milk, Lauren feels so comforted and thankful for the support she received.
As she continues to search for solutions for Grayson, Lauren urges mothers to donate their milk to breast milk banks that can help connect with families in need.
What is Rubinstein-Taybi Syndrome (RTS)?
Rubinstein-Taybi syndrome is an extremely rare genetic disorder that affects many organ systems. There are a multitude of RTS causes: CREBBP mutations, EP300 mutations, and genetic microdeletions on the short arm of chromosome 16. In other cases, the cause is unknown; some researchers hypothesize that unidentified gene mutations may play a role. Symptoms related to RTS may appear prenatally or in early infancy. These symptoms can include:
- Distinctive facial features such as a high palate, low-hanging nasal septum, high-arched eyebrows, long eyelashes, downward slanted eyes, and talon cusps
- Intellectual and developmental delays
- Speech and language delays
- Short stature and slowed growth
- Dysphagia (difficulty swallowing)
- Scoliosis
- Difficulty breathing and feeding
- Urogenital abnormalities
- Joint hyperflexibility
In some individuals, RTS may lead to skin, heart, or respiratory impacts. There is no cure for Rubinstein-Taybi syndrome. Therapies are largely supportive and symptomatic, including physical therapy and orthopedic surgery.
