One mother's story: Pentalogy of Cantrell


This story was written by Sarah Doyle, mother of Aidan.

I’m sure that I’m one of many parents who credit Children’s Hospital Boston with having saved their child’s life. But I don’t think many parents have had an experience quite like ours. Aidan was born in April of 2007, with a giant omphalocele, a defect in which the abdominal organs develop within the umbilical cord, outside of the abdomen. This only occurs in an estimated 1 in 2,500 pregnancies. The defect was detected during a routine ultrasound at 20 weeks gestation. It’s pretty hard news to take when you are told your unborn child has a life threatening defect, and that the defect may be associated to chromosomal abnormalities or that other anomalies may be present. We thought ourselves lucky; the omphalocele appeared to be isolated, and his chances of survival seemed pretty good.

Aidan was born at UMass Memorial Medical Center in Worcester; it was immediately obvious that he was in respiratory distress and he was placed on a ventilator. We decided to do non-operative management of the omphalocele, a decision that was not supported by the surgeons, but they respected our wishes anyway. After a few weeks, Aidan remained on the ventilator, and without any answers as to why he was still having respiratory difficulties, we made the choice to have Aidan transferred to Children’s Hospital Boston. He was 5 weeks old when he became a patient on 7 North, in the NICU. It was then that we met the wonderful team who would work so hard to save his life, which included Dr. Mary Mullen from Cardiology, Dr. Lawrence Rhein from Pulmonology, and Dr. Russell Jennings from Surgery. With the team in place, we began to get some answers.aidan_doyle_3

Tests were ordered, and a CT scan revealed that Aidan’s ribcage had not grown to proper proportions due to the omphalocele. His lungs were long and skinny, as was his ribcage. He also had a cleft sternum. Cardiologists performed a heart catheterization, which revealed two small holes, a ventricular septal defect (VSD) and patent foramen ovale (PFO), but more concerning than that was their finding that Aidan had pulmonary hypertension. We knew then that Aidan would have a long road to recovery, and that the ventilator would be necessary long term. He had a tracheotomy performed when he was 7 weeks old. One of the ideas that was brought up was to create a prone bed with a hole in it, which would allow Aidan to lie on his belly without compressing the omphalocele. The NOPCO brace shop was brought in, and Rusty Miller made a bed that accommodated Aidan’s needs. The doctors also decided on a new course of treatment for Aidan’s pulmonary hypertension (PH): Viagra. Although the effects of the drug have not been fully studied, it does appear to help improve PH in infants. We decided it was worth the risks.

As the weeks and then months passed, Aidan seemed to become more stable. In August of 2007, Aidan appeared to be stable enough to transfer to Franciscan Children’s Hospital. Just before being moved there, nurses noted that you could see a pulse high up on Aidan’s omphalocele, which had grown quite large at that point. The doctors didn’t feel that this finding should prevent Aidan’s transfer, and so he was moved to the rehab hospital. He spent a total of 16 days there before needing an emergency transfer back to Children’s, this time as a patient of the M/SICU on 7 South. Aidan had become extremely sick with a respiratory infection and was very dehydrated. But most concerning was that we could now fully see his heart beating in his abdomen. This was something Dr. Mullen had not seen before, and she was uncertain how dangerous this might be. What Dr. Jennings realized was that Aidan had a congenital diaphragmatic hernia (CDH) that had gone undiagnosed up until this point. Aidan’s heart had migrated through that hernia, and was now in aidan_doyle_6his abdomen, a condition known as ectopia cordis. At 5 months old, Aidan was finally diagnosed with Pentalogy of Cantrell. This is an extremely rare condition, and one that exceptionally few babies survive with.

We waited for months for Aidan to be stable enough to endure surgery. That day finally came on December 3, 2007. Dr. Jennings took Aidan into surgery along with a heart surgeon. That as well as the CDH repair went without complication, but when Dr. Jennings went to repair the omphalocele, there was too much swelling, and much of the skin that had covered the omphalocele had become useless. Dr. Jennings had to resort to unconventional methods to save Aidan’s life. For weeks, Aidan was placed on heavy sedation and paralytics, and a traction device was devised which attached to the muscle and fascia of Aidan’s abdomen, and stretched it out. Twice a week, Aidan went back to the OR to have the organs reduced further into the omphalocele. After three weeks, the combination of stretching muscle and fascia and reducing the omphalocele resulted in a partial repair of the defect, requiring the use of Gore-Tex to complete the closure of Aidan’s abdomen. That final surgery happened on Christmas Eve, and our hearts were filled with joy as we witnessed a true miracle in the beginning of a new life for our son.aidan_doyle_11

The recovery following those surgeries was not easy. Aidan spent the next two months struggling to be weaned off the sedation he had become used to. My husband and I worked with Lauren Perlman of the Respiratory Department, and she trained us on how to use the ventilator which would accompany Aidan home. Finally, on March 4, 2008, Aidan left Children’s to come home for the first time ever. We had waited 328 days for this. There were many hugs and tears of joy, and even songs for Aidan as the entire staff said farewell. What a bittersweet moment as we took our baby home, but left behind the doctors, nurses and staff that had become like family to us.

aidan_doyle_8cropSince coming home, so much has changed. Aidan was able to come off the ventilator and oxygen in July of 2008, and a month later he welcomed the arrival of a baby sister. For his second birthday this past April, Aidan had his final closure surgery on his abdomen, and Dr. Jennings created a beautiful little belly button for him. There are still struggles; Aidan has oral aversions and will not eat by mouth. He is 100% dependent on tube feedings. He is also about a year behind in his development. But his days are happy, and for the most part he is healthy.

aidan_doyle_10There isn’t a day that goes by that I don’t think about the challenges we faced in that first year of Aidan’s life, or of the wonderful doctors and nurses who not only cared for my son, but for my husband and myself.  I will never be able to thank them enough for their compassion, their talent, and their commitment to Aidan. My son is now a proud survivor of Pentalogy of Cantrell, and there are few who can say that. That could not have happened without Children’s Hospital Boston.

~Sarah Doyle