It wasn’t long after John was born that doctors realized they wouldn’t be able to treat his imperforate anus diagnosis locally. That’s when Children’s Hospital of Philadelphia (CHOP) was called to join the fight.

And that’s how Brian, John’s father, found himself driving alone in a car behind an ambulance carrying his day-old son and still-recovering wife, Eleanor.

“He looked all nice and comfy in his little incubator,” Brian recalled. “But yeah, the whole process, even the [CHOP] drivers were all very kind and helpful.” A short time later and with John now 36-hours-old, the family arrived at CHOP’s Neonatal Intensive Care Unit (NICU). 

Testing, Testing

As Brian and Eleanor would discover, imperforate anus is part of an association of conditions which can often occur together.  

Dubbed VACTERL, each of the letters stands for a system in the body that can be affected.  

V for vertebrae. A for anorectal. C for cardiac. T for trachea. E for esophagus. R for renal. L for limbs. 

“So, when a child is diagnosed with one, they do testing to rule out issues in those other systems,” Eleanor explained. For John, that meant an array of visitors. Neonatal. Neurosurgery. Cardiology. Genetics. A small hole was discovered in John’s heart. An ultrasound revealed a tethered spinal cord in his back; another condition requiring surgery. 

“So, he had the V.A.C. of VACTERL and later in life he's been diagnosed with a thumb abnormality and so that's the L,” Eleanor said.  

In John’s case, that L looks like hypoplasia – essentially a small thumb on one of JOHN’s hands – which can affect his grip strength as he grows. Treatment for which is, fortunately, non-surgical. 

Procedures Planned 

On his third day of life, John underwent a procedure to place a colostomy. Completed at CHOP by Pablo Laje, MD, it created an avenue for John’s body to flush waste.  

“He was in [the NICU] for maybe about a week after that, just until they could get everything else settled and keep an eye on him for a little bit,” said Eleanor. “And teach us how to do the colostomy care on a little wiggly baby.”  

When John was about five months old, he had surgery at CHOP to treat his tethered spine with neurosurgeon Gregory Heuer, MD, PhD. 

Reconstruction of the anus was done about a month after because John needed to grow and gain strength first. That procedure was also completed at CHOP, in part by Myron Allukian, III, MD. 

A few months later, John underwent a colostomy reversal, reconnecting his bowel to the reconstructed area, and removing the colostomy.

Following a re-do anoplasty this past May, not at all uncommon in patients like John who have recurrent rectal prolapse, the now-6-year-old has undergone a total of five surgical procedures since birth.

Gaining Control of the Future

After the colostomy reversal, John began seeing Dr. Allukian for long-term bowel management.

It was a waiting game to see how his bowels would work on their own, with the family trying things like dietary restrictions, prune juice, a stimulant laxative and increased fiber to help. This was moderately successful for a few years but eventually, the restrictions and medications simply became too much. 

“John is very calm and open,” Brian said. “He thinks through things and so he was very open to trying something like an enema. And he did really well with it.” 

In fact, John did so well that after four months with enemas and few issues, the family asked Dr. Allukian about a transanal irrigation system, which uses water, a catheter and pump to empty the bowels. 

This change would allow John to be on the toilet instead of lying on his side in bed. More importantly, it would allow him to be alone in the bathroom.

“It gives him some control and responsibility for his own care,” Eleanor said. “Even though we still need to be heavily involved as parents at this age, it gives him some sense of ownership and privacy too.”

It has also made a clear space for tablet time, his only screen time of the day. Per Brian, John enjoys playing games and watching reruns of shows like “This Old House” while he irrigates. 

Looking Ahead

“Credit to John for his resilience and his bravery and also to the team for knowing how to meet him as a child where he is and us as parents,” Eleanor said.

These days, John returns to CHOP for check-ups twice a year, with another procedure under consideration.

“We're going to kind of see how things play out and give him the opportunity later on to have more say in whether he wants to do that or not,” Brian said.  

Fortunately, keeping in touch with the CHOP team to discuss such things has been especially easy, thanks in part to MyCHOP.

“I know I can contact Lisa and Steph, and they're going to know John; they know where we're at, what we're doing,” Eleanor said. “They're knowledgeable about the condition and the treatments.”

And they make a point to bring John into those conversations.

“[The doctors] talk to John, and they ask him questions and he's able to tell them too, which I know not all kids are there yet,” said Brian. “But they've really included him in the decisions and giving him the explanations of things.”

In the end, Brian and Eleanor know they made the right choice in CHOP, Dr. Laje, Dr. Allukian, and their teams, including nurse practitioners Lisa Jang, CRNP-AC, MSN, BSN, RN and Stephanie Collins, MSN, BSN, RN, CRNP.

“Just the care and compassion and knowledge that they have and share with us,” Eleanor said, explaining why the family has felt so supported at CHOP.

“And the way they interact with John is really, really sweet.”