Nicole Topp’s life is no short of a miracle. The 35-year-old lifelong Cranston resident was diagnosed with a genetic condition called Turner Syndrome (TS) before she was born and had a 1 to 2 percent chance of surviving birth. Topp is now raising awareness of the rare condition and has requested the City of Cranston and Governor Dan McKee recognize February as Turner Syndrome Awareness Month.

TS is a chromosomal disorder affecting over 2 million individuals who are born female and was discovered in 1938 by Dr. Henry Turner. As the second most common genetic disorder, 1,000 baby girls are annually diagnosed with TS. The condition could trigger physical, cognitive, emotional and social issues. Other complications can involve the kidneys, heart, thyroid, diabetes, hearing, osteoporosis, infertility, pregnancy, visual-spatial skills and executive function.

It is estimated that 10 to 20 percent of all first-trimester miscarriages are related to TS. Only 1 to 2 percent of fetuses with TS survive to birth.

Topp was diagnosed with TS in utero and has faced many health concerns – including heart problems, thyroid  issues and hormonal issues. She’s had two heart surgeries – one when she was a baby and another in 2020.

When Topp discovered she would need a second heart surgery, she started researching more about TS and connecting with others who lived with the condition. She then found the New Jersey-based Turner Syndrome Foundation (TSF) which seeks to support research initiatives and facilitate education programs that increase awareness and enhance healthcare for those affected by TS. She became involved with the organization and is now spreading awareness locally about TS.

Topp said medical professionals are not as familiar with TS because it is considered a rare condition. She added that it’s important within the medical community to raise awareness about TS so patients can get the very best possible healthcare since greater awareness of TS will allow for healthier lives for all TS patients. Delayed diagnosis continues to limit access to life-changing or even life-saving health screenings and interventions that should begin as early as possible.

To educate individuals on the local level, Topp reached out to her Ward 1 Councilwoman, Lammis Vargas, to create a resolution for Cranston to recognize February as Turner Syndrome Awareness month; she also requested that Governor Dan McKee do the same for the state.

TS has had a large impact on Topp’s health. From ages six to 14, she took growth hormone shots every day, saw specialists and doctors regularly and had a hysterectomy this past summer because of health issues.

She added that it’s important for people to know that if they have TS, they’re still able to live a full and happy life.

“I have an incredible husband and job I love,” said Topp. “Yes, I face struggles in life, but everyone has their own struggles.”

Topp has spent the past three years working as a preschool teacher on a Navy base in Newport. Before that, she worked at Cornerstone School on Dyer Avenue. Growing up, she attended Norwood Elementary School, Park View Middle School and Cranston West which she graduated from in 2006. She also attended Rhode Island College and majored in political science and minored in sociology. Today, Topp lives in Edgewood with her husband and cat.

The resolution recognizing February as Turner Syndrome Awareness Month will go before the City Council for a vote at the February full City Council meeting.

In 2022, TSF served 20,000 individuals and more than 140,000 people from around the world have accessed online resources. During February, TSF will host special webinars, events, fundraisers and more surrounding TS. More information can be accessed at www.turnersyndromefoundation.org.