Striving towards a new tomorrow
The International Family Study is pioneering research into the causes of cleft working in partnership with the University of Southern California.
A mother slips during pregnancy. A baby sucks his thumb in the womb.
Joemar and Shennene were told that’s what may have caused their 1-year-old son, George, to be born with a cleft condition – but they have many reasons to believe otherwise.
Sitting in the waiting room during Operation Smile’s 2018 medical mission in their hometown of Iloilo City, Philippines, Shennene and Joemar rattled off their family history.
Shennene was born with a cleft lip and palate and received care when she was young. And Joemar, with relatives who have cleft, understands the impact that the condition can have on a person and members of their family.
When Shennene was five months pregnant with their second child – a girl – an ultrasound suggested that their baby could be born with a cleft. “Family must cause this,” Shennene said through a translator, with Joemar nodding in agreement.
Joemar said that they would’ve believed that these conditions are caused by slipping or sucking a thumb in the womb, but with such an overwhelming history of cleft in their families, there’s no other answer.
While there are still many misconceptions surrounding the cause of cleft, Operation Smile has teamed up with the University of Southern California (USC) and Children’s Hospital Los Angeles to conduct the International Family Study (IFS) in an attempt to better understand why the condition happens in the first place and, hopefully, find a way to ensure that no more people are born with cleft.
Trisha In, member of the four-person IFS team assigned to the medical mission in Iloilo City, said, “It’s really important for us to find out what we can do to prevent it because that’s one of the best ways to lower that burden in these countries.”
For IFS team member JR Lado of the Philippines, nailing down the cause of cleft – and finding a solution – is a personal mission.
In 2009, JR received surgery for his cleft condition from Operation Smile and has been a dedicated volunteer ever since, working for medical records and then serving on the IFS team.
I’m really looking forward to learning the real reason. I’m really looking forward to that day, if it happens, and I hope so. Me personally, I want to really know why or what the reasons are, or if there is any medication or any vaccination that will prevent it so that there will be no more children born with a cleft lip and cleft palate.JR Lado, Operation Smile volunteer and IFS team member
The IFS team follows a series of steps to conduct their research during medical missions in a handful of countries – from Guatemala to Madagascar to the Philippines – where there are especially elevated numbers of people born with cleft conditions, Trisha said.
First, and very importantly, the team stresses to patients and their parents that participating in the IFS study is completely optional and has no bearing on whether their case is selected for surgery.
Once they receive consent from the patients and parents, each mother provides answers to a very thorough questionnaire; topics include their pregnancy, occupation, lifestyle, exposure to chemicals and more. If the father is present, he’s also asked to answer a complementary questionnaire.
Next comes the genetic analysis. During screening day, the IFS team provides cotton swabs to every consenting patient and parent to collect saliva samples.
Almost 90 samples were collected during Operation Smile’s medical mission in Iloilo City – a drop in the figurative bucket of the number of samples that the IFS has amassed since its start in 2009.
As of 2019, the study has collected more than 16,000 individual saliva samples representing more than 7,000 families, creating the largest and most diverse genetic repository of cleft samples globally.
The team also receives samples from other patients around the hospital who were born without a cleft condition. This data serves as the control group.
All of the data is sent back to the U.S., and we run that through the USC labs. We have people who look at the epidemiology behind it who take care of the data analysis, and they’ll look to see what trends exist to find out why oral clefts happen.Trisha In, IFS team member
Sifting through this research has revealed a potential connection between smoke inhalation from cooking over an open flame and a significant increase in cleft conditions.
In many of the low- and middle-income countries where Operation Smile conducts its medical missions, it’s common for families to prepare meals over open-flame cook stoves fuelled by burning wood or coal inside their homes. This widespread cooking style typically lacks effective ventilation, creating an environment that could have detrimental effects on a pregnant mother and her developing baby.
We all have different genetic predispositions, and that means different exposures can affect us based on our genes. The same environmental exposure can affect two people differently over time because each person has a different genetic makeup.Freddy Brindopke, IFS Project manager
During Operation Smile’s 2018 medical mission to Iloilo City, George passed his comprehensive health evaluation and received surgery to repair his cleft condition.
George turned 1 year old just days after his surgery – an advanced birthday gift from Operation Smile his mother said. But to Shennene and Joemar, George has been their gift.
“The Lord gave George to us, and he is a blessing,” Joemar said.
Joemar and Shennene said that they feel happy that George received surgery for his cleft lip because he won’t be bullied when he grows up – he won’t have to endure the hardships that his mother experienced.
“Growing up was hard, but I don’t really keep the grudge inside me. I shrug it off,” said Shennene, who received surgery for her cleft palate 14 years ago. “If I keep it within me, I’ll just cry, so I don’t mind other people.”
Seated side by side with his wife, Joemar gently placed his hand on Shennene’s leg. And with affection shining in his brown eyes, he said, “I just love her so much. It’s been hard, but she’s managed it well. We’ll be happy after George’s surgery, and we think the sacrifices will be over.” JR and Trisha hope that one day no child will be born with a cleft condition and that no parent will have to endure such sacrifice.
As the IFS continues in its search for both the answer and solution, it’s important for communities worldwide to fight the stigma surrounding cleft and accept these children as they are.
“Society needs to destigmatise cleft lip and cleft palate because a lot of people would just look at a child and automatically assume these things when our study has demonstrated that there is no clear-cut reason why this happens,” Trisha said.
“If it’s a lifestyle, if it’s environmental, if it’s genetics – that’s why we’re collecting more and more samples.”