A long-term study to understand clefts

An early antenatal scan detected that Dylan had an underdeveloped chin. Since this can be associated with an opening in the roof of the mouth – known as a cleft palate – Dylan’s parents were referred to the Cleft Lip and Palate Team at Great Ormond Street Hospital (GOSH).

At birth, Dylan was diagnosed with a very wide cleft in his hard and soft palate, a floppy tongue, a small chin and, given those three characteristics, Pierre Robin sequence. Dylan’s mum Catherine tells us why Dylan, now 16 months, and her family are taking part in a research project on regarding clefts.

Why we are participating in the research 

What if scientists found a way to prevent one of the most common birth defects from occurring? What if prevention then became widespread and the defect progressively disappeared? 

“What is this condition?” you ask.

Cleft lip and palate.

“Oh,” you say, “Just that? Isn’t that fixed with surgery?”

If I had a penny for every time someone said that, I would sport a broad smile.

In the clinic held before Dylan’s palate repair surgery, our consultant dispelled my dream that surgery would be a panacea for Dylan’s cleft-related issues. Yes, even as a mum of a baby with a cleft, I had clung to that myth.

The consultant also made a point to warn us that sometimes more than one operation is needed. A baby born with a cleft may have surgery to close a gap in her lip. Surgery to repair her nose. One or two operations to bridge gaps in her hard or soft palate. Further surgery to mend tears that may develop or to facilitate speech. Bone grafting to support her teeth growth and eating.

One in 700 babies in the UK are born with a cleft; this means more than one thousand each year. That’s a lot of surgeries. Children born with clefts also have feeding difficulties, dental problems, hearing loss, speech and language difficulties and, sometimes, developmental delays. So that also means thousands and thousands of children needing hearing aids, grommet-insertion surgeries, speech and language therapy sessions and developmental support. Thousands and thousands of children at risk of being bullied and facing related knock-on effects, and parents who may carry unfounded guilt for their child’s congenital condition.

I had a healthy lifestyle before conceiving and then was conscientious during my pregnancy. I have racked my brain asking what did I do (or not do) that may have caused Dylan’s cleft. Science, I am told, has no answers. So far, science only knows that for too many us, in the first few weeks after conception, our babies’ facial features just don’t come together. 

Research, we hope, may reveal more. My family and I are participating in this project to help to find ways to prevent clefts and improve the lives of children born with them.

What Dylan’s experience has been 

A young, male GOSH patient playing with a toy truck

How can I describe Dylan’s experience? I’d rather tell you about my little explorer’s laughter and his single-mindedness . . . But, ok. Here goes.

Shortly after his birth, we noticed Dylan breathing difficulties that are associated with Pierre Robin Sequence. Our respiratory consultant at GOSH said, “It is as if he is jogging all day and night”. This worsened when he tried to feed. As is typical for babies with clefts, he had little suctioning power. His little heart raced as he tried in vain to pull milk from a bottle or breast. Dylan burned more calories from drinking and breathing than he consumed. He did not gain weight as babies should. We anxiously guarded against the risk of “failure to thrive”. 

By six months old, he outgrew the breathing issues. And we celebrated. What remained were challenges primarily stemming from his cleft palate, and chief among those feeding difficulties.

As with many babies with clefts, Dylan received his first feeding tube shortly after birth. This tube allows Dylan to get enough nutrition but it also allows fluid to slip back up his oesophagus, burn his throat, and come gushing out. Vomiting frequently and needing to repeatedly replace the tube have made Dylan wary of anything coming close to his face, including food. 

Having virtually no hard palate, when food made it into his mouth, it then went up into his nasal cavity. If he was able to get food to the back of his mouth, he had difficulty.. Apparently we use our soft palate when swallowing. Dylan had no soft palate. 

Dylan’s palate repair surgery at GOSH has improved his drinking experience immensely. I am in awe of the work done. But as forewarned, it did not solve his feeding issues. At 16-months, Dylan has not yet weaned onto solids or off the feeding tube. We are delicately working to replace his fears with the pleasure of playing with, tasting and—maybe just maybe—eating food. 

How we became involved 

Shortly after Dylan was born, the GOSH Cleft Team’s research nurse Caroline Lodge invited us to participate in the study. She explained that this long-term project is being conducted across the UK to understand the causes clefts, the impact of clefts on families, and how care of those born with clefts can be improved. 

What participation entails 

Participating in this research project is not taxing and is very much worth the potential benefits. Every once in a while, Dylan’s dad and I each receive a survey to complete. For me, this is a good excuse to go to a café, sit for an hour, and tick which options apply to us. Dylan’s dad and I have given our saliva samples for DNA analysis and contributed Dylan’s tissue sample, which was taken during his palate repair surgery. There will be more surveys over time and, I am told, information from Dylan’s health records will be requested. 

A thank you to generations prior and hope for generation to come

The myth that surgery is the panacea for cleft-related issues exists for a very good reason: in the last few decades, surgeons and healthcare professionals have made great strides in caring for children with clefts. These gains have resulted in part from the willingness of other children and their families to participate in research, and their courage to try untested procedures. Our participation is in part a thank you to them and a continuation of their tradition. 

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