The benefits of FOP screening by looking at the toes at birth are clear and cost-effective. In fact, this type of newborn screening costs nothing.
When a neonatal check is performed to identify the malformed big toes, which around 98% of FOP patients are born with, not every FOP patient will be diagnosed, but it could certainly decrease the number of patients not getting a diagnosis early in life.
With this screening of the toes in place, it could prevent unnecessary suffering, reduce the time to diagnosis, as well as prevent misdiagnosis.
This was the quest of Dr. Patricia Delai and two Brazilian mothers of children with FOP when they wrote a letter to the Brazilian First Lady Mrs. Michelle Bolsonaro.
They couldn’t have hoped for a better result when the First Lady herself called Dr. Delai to better understand FOP and the terrible reality of FOP patients living in fear and isolation.
After hearing about FOP, the First Lady agreed to officially become a patron for FOP—to give the condition a voice. With plans already underway to celebrate the internationally recognized Rare Disease Day, she decided FOP would become the focus of their celebration.
Dr. Delai reached out to the Tin Soldiers Global FOP Patient Search team and arranged for a private screening of the Tin Soldiers documentary, a multi-award-winning film, during the event. The film, which tells the deeply personal stories of people living with FOP, was screened in Brasilia, the federal capital of Brazil, to an audience of government ministers and the First Lady.
During this event, the First Lady spoke about her commitment to being a patron for FOP, and how she would, through her alliance with First Ladies of Latin America, help to spread information in order to find more patients.
Dr. Delai and FOP mothers Mrs. Sandra Gomes and Mrs. Kryscia Napoli shared their stories and experiences with FOP. Due to COVID-19 travel restrictions, the Tin Soldiers team did a virtual presentation.
A powerful result of the event and bringing awareness to FOP is that Deputy Marcelo Aro has written a Bill to be passed into law requiring observation and documentation of malformed big toes at birth. The Bill is PL5090/20 and has been named after Marianna Gomes who lived with FOP and passed away in 2018. The First Lady is personally following the progress of this Bill to ensure its approval.
FOP Brazil, the Brazilian FOP community and the Tin Soldiers Global FOP Patient Search program are working tirelessly to spread the word about FOP to find the "missing" members of our FOP family and end isolation.
We hope that one day we will be able to write, "Once upon a time, there was a rare disease called FOP that very few people knew about. Today, the whole world has heard about it."
This article was written and provided by FOP Brasil. It's important to note that newborn screening laws are different in every country and, in the United States, they are different in every state.