Luca's CDH Story — Tiny Hero: Real Hope for CDH

With Luca's first birthday approaching, we want to tell other parents who were asked if they wish to terminate their pregnancy after being told their CDH diagnoses that there is hope and a fight that can be won. We chose to fight and give him the best chance at life we could. Although I was high-risk and he was high-risk, we were given a miracle for a reason and chose to fight for him and with him in any way we could. We were told if he was born at our local hospitals, he would not survive as they could not care for him due to the CDH and the potential need for ECMO. We relocated from rural upstate New York to Boston, leaving our seven-year-old son Jacob, our home, and many fur babies behind in the care of our parents.

After being told we could not have more children for many years, we were surprised when Luca was conceived in December 2021. After so many doctor's appointments, we were sent to a high-risk MFM due to being a high-risk pregnancy with previous delivery trauma and medical complications. At our 20-week scan, we were told our baby had a birth defect called RCDH, right-sided congenital diaphragmatic hernia. They were unsure if he had one lung or two or neither due to his liver being up so much, and they were unable to get a clear view through ultrasound. They told us we would have to decide to either terminate or be sent to a further advanced doctor. Termination was not an option for us, and we were transferred to Boston's Brigham and Women's Hospital, which is connected to Boston Children’s Hospital because of its specialized CDH team and ability to care for complex pregnancies, deliveries, and babies.

After being told to relocate sooner than planned, we relocated on June 29, 2022, due to an added pregnancy complication, severe polyhydramnios, that was getting worse daily. On July 7, I was admitted for preterm labor, and we successfully delayed delivery for 12 days. Luca was born at Brigham and Women's Hospital on July 19th with a planned induction. This was a well-planned birth in the OR with teams from both the women's and children's hospitals present. As soon as Luca was born, I could not hold him. Instead, he was immediately taken to the corner of the OR, where he was intubated. Once stabilized, they did let me see him and touch him quickly, but he was whisked away from the OR by dozens of doctors and nurses as they ran across the hospital and the adjoining bridge to Boston Children's Hospital's Medical Surgical ICU unit.

While in postpartum recovery, we were told he needed to be placed on ECMO, and we had to be brought over to Boston Children's to sign the consent forms. So three hours after delivering, I was signing papers for my baby to be put on life support. From there, the procedure of ECMO took place just four hours after birth. He stayed on ECMO for the next 14 days. A few hours after being placed on ECMO, we were told it was not working properly, and they tried to redo the circuit, but it still was not working, and complications were because of his organ placement due to the CDH. Repair CDH surgery was needed immediately in order for the ECMO machine to work correctly. At only 19 hours old, on July 20th, Luca had his CDH repair surgery. They moved his organs into the proper positioning and sewed in a large Gore-tex patch on his entire right side, sewing it to his ribs and muscle to close his diaphragm. He was considered severe right-sided CDH with a class C defect. He was more severe than we thought, with most of his liver and bowels up. His liver was up so high and tipped that it blocked the other organs from moving up but also squished his lungs and pushed his heart under his armpit area. Once the repair was done, we found out he indeed had two lungs, one very small left lung and a small right lung that was completely hidden and deflated underneath the liver.

For the next five months, Luca fought for his life and to be able to come home. He spent 76 days in critical condition in the medical ICU and 71 days on the surgical floor, totaling 147 days inpatient. During this time, we almost lost him multiple times from daily bradycardias, desaturations, cardiac arrest, multiple strokes and blood clots, intracranial hemorrhages, multiple intubations and extubations, and various trials with oxygen ventilators and other machines. Day by day, hour by hour, sometimes we did not know if we would ever take him home. Daily life was non-stop; doctors and nurses, specialists. He had cat scans, MRIs, chest scans, ultrasounds, EKG, EEG, blood work, and more, all multiple times a day, every single day.

He has been diagnosed and fought a battle with so many things, but not limited to pulmonary hypertension, strokes, Chiari malformation, obstructive hydrocephalus, intracranial hemorrhages, dozens of blood clots, withdrawals, overdoses, patent foramen ovale (PFO) of the heart, subclavian vein thrombosis (SCVT), GERD, malrotation of the bowel, reflux, and inability to orally intake feeds and meds. He has had six OR visits and was having daily bedside procedures to drain his hydrocephalus pocket. He has had four brain surgeries for a subgaleal shunt pocket placed, ETV, CPC with ETV repair, and a VP shunt.

Two weeks before his first Christmas, we got the best Christmas present ever! On December 12, 2022, we were discharged! Just two days later, on December 14th, we relocated home and brought Luca home for the first time to meet his big brother and fur siblings. He came home only with a G-tube due to not being able to feed orally.

CDH is a scary rollercoaster hour by hour, day by day, and it is lifelong. Luca will always fight with his multiple other diagnoses. The diagnosis is frightening, and so is ECMO, but he would not be here without being where ECMO was available. It's scary and comes with unknown complications and risks, but without it, we would not have our sweet Tiny Hero. Luca is thriving and catching up with his milestones in his own fashion which is very Luca. The nurses always said it was because he never did things as planned but on his own terms of doing things. For example, getting off ECMO was unplanned after a planned failed first attempt. He is a very happy boy who loves to laugh, smile, make noises, and babble/screech, especially at his brother and fur siblings! Luca loves to wave at everyone all day long, including himself. He always smiles and brings smiles to everyone he meets. Luca loves being outside swinging and going for walks, and we are learning he loves to be in the pool too!