Renee’s Story our Journey with Ea/Tef and T18 a rare condition

Our daughter Renee was born in February of 2009. She was born a month premature weighing 4lbs 1oz. She was quickly found to have an issue with her esophagus when the team caring for her attempted to suction her and were unable to pass the suction catheter deeply enough. Upon x-ray, it was noted that the suction catheter was coiled up and unable to pass due to a suspected EA/TEF.

Renee was transported from the small hospital where she was born to Boston Children’s Hospital. She was evaluated by the surgical team there and she was operated on at less than a day old by Dr. Russell Jennings. He repaired her short gap type C EA/TEF, and she was transferred to the NICU to recover from her surgery. It was an emotional and agonizing few days for me and my husband as I was still recovering from my C-section at the hospital where I delivered Renee. He, along with my parents, had to split their time between me and Renee until I was released and able to go with them to visit her.

We met with Renee’s team in the NICU and found out that she would soon be facing further surgery to correct several heart defects. They hoped that surgery could wait until she grew and gained a bit of weight, but it quickly became apparent that she was burning too many calories just by breathing and that they would need to do the surgery ASAP. So, at a mere three pounds, our very little girl went into surgery for the second time. This surgery would close one ASD, two VSDs, and a PDA. I will forever be in awe of the skill of her surgeon, Dr. Emil Basha. How he operated on an organ approximately the size of a walnut I will never understand but I am profoundly thankful for it.

When Renee was first admitted to Boston Children’s Hospital, they took blood samples to attempt to identify any possible genetic conditions that might help explain the cause of her EA/TEF, her heart defects, and other issues noted during my pregnancy. About a week after Renee’s heart surgery when she was six weeks old, we were given the results of that testing. We were told that Renee was born with trisomy 18, specifically, partial trisomy 18 with -8p deletion. If you would like to read more about what that means you can look here:

We were blindsided by the news and were unsure of what to do. We received little positive information from the team about what to expect, whether Renee would live to see her first birthday, and if indeed she would live long enough to come home with us. I recall vividly standing at Renee’s crib side with my husband Billy and my parents, we were still reeling from the news when one of the nurse practitioners came up to talk with us. She looked at my husband and me and said, “I know you have to go back to work; you can always look

into long-term care for her.” I paused for a moment, then turned and looked at her and said, “We are her long-term care, and she will be at home with us for however long she lives”. I believe strongly that there are moments in everyone’s life that act as turning points or moments where you can feel your resolve strengthen. This was very much such a moment for me. I knew that we could care for her with some education and that she would never be alone and would never know a day without the love of her family.

Arrangements were made to have Renee transported back to the small hospital where she was born so that we could learn how to administer her medications, and tube feedings, and how to monitor her vital signs before bringing her home.

We ultimately were able to bring our girl home and after much trial and error, we settled into a routine. The four of us decided that we should live together to best care for Renee. Initially, my husband and I had moved in with my parents temporarily while we were renovating the house we had purchased while we were engaged. Once Renee came along, we decided it would be in her best interests to have more help and, although it wouldn’t work for everyone, it was a smart decision for our family. As Renee grew, our initial worries over her life expectancy eased a bit as each birthday passed. She grew from an adorable baby to a sweet toddler, and ultimately into the sweetest teenager you could ask for. Renee, though nonverbal and completely physically dependent, was the heart of our home, and the four of us delighted in caring for her.

Initially, Renee while delayed due to her genetic disorder, was making gains toward rolling over, sitting independently and even standing in her infant exersaucer. However, as her epilepsy began to take hold those achievements slowed and, eventually, stopped. And her emerging language also stopped as her seizures became more prevalent.

Renee’s EA/TEF diagnosis was essentially in the background of our lives. We were fortunate that her initial surgery corrected the issue and never required any follow-up interventions beyond periodic endoscopies to make sure all was well. She was completely G-tube dependent by the age of three. We had always used either an NG or a G as her primary nutritional delivery method, but when she was small, we could feed her small amounts of food if it was thickened. However, like many other aspects of her life, the seizures caused by her epilepsy eventually made it unsafe to feed her by mouth.

While the medical aspects of Renee’s life dictated the rhythm of our lives, I didn’t want that to be the primary focus of her story. She, like all the children featured on this website, was so much more than just a collection of medical diagnoses, and that is the story I truly want to share with everyone.

Renee was truly a joy to be around. I know that sounds like such a “mom” thing to say about one’s child, but she was. Renee had a way of drawing people to her like no one I have ever seen. Without saying a word, she could convey whatever was on her mind with either a

smile or often, one of her sassy side-eyed glances. Her nurses, therapists, and teachers would regale me with stories of how Renee would respond to whatever activities or therapies they had planned. I recall fondly one photo of her when she was maybe two years old, and she was at her daycare program. Her nurse was bravely attempting to engage Renee in a finger-painting project and the look my adorable child was giving her was icy, to say the least! I often joke that Robin, her steely-nerved nurse, should have received combat pay that day based on the look she was getting!

She loved being in school, spending time with her classmates, as well as the teachers and therapists, and paraprofessionals. However, if there was one activity, aside from sticky finger painting, that she didn’t enjoy, it was her vision therapy. Her poor vision therapist would try in vain to get Renee to participate, only to have Renee sleep through each session. Or so she thought. Renee’s teacher was onto her shenanigans though and she pulled her therapist aside one day and said, “Just watch her and see what she does once she thinks you have gone.” Sure enough, once Renee thought her vision therapist had left, she opened her eyes and started to move. Her therapist was surprised, to say the least!

I could go on and on talking about my daughter, I have always said that she was my favorite subject, and I could talk forever about her. Unfortunately, I no longer have forever as our sweet girl passed away on July 10^th, 2023.

For approximately two years before Renee’s passing, we had been attempting to get to the bottom of her increasingly frequent bouts of reflux/pneumonia/seizure clusters with little success. Finally in the fall of 2022, after much exhaustive pushing and prodding by me, Renee had a procedure called a triple scope. The GI and pulmonary specialists who performed the scopes confirmed what I had thought that Renee’s scoliosis was the root cause of her ongoing issues. The scoliosis was so severe that it had pulled her aorta over to the point that it was compressing her lower esophagus. The team also discovered that she had a condition known as an aberrant subclavian artery. The aberrant subclavian artery was in turn causing something called a vascular ring around her trachea and esophagus. The result of these findings was that Renee would likely need several procedures to correct these issues.

We went through an incredibly stressful and exhausting time trying to keep Renee healthy enough to attempt the first of several planned surgeries/interventions. We had to postpone her first planned admission for her to be placed into halo traction because she had contracted COVID-19 for the third time in seven months. Finally, it was the weekend leading up to her second scheduled admission for halo traction. She again became ill with a respiratory infection. I worked feverishly around the clock giving her respiratory treatments, her chest PT vest, and her C-pap machine. Ultimately though I had to call for emergency assistance and have her transported to Children’s Hospital in Boston for care. She was admitted to the ICU and had a quick enough response to their treatment that she was able to proceed with the planned halo traction application.

The purpose of the traction was to correct the curvature of her spine as much as possible, before the next step in the surgical plan which was to expand her chest to alleviate the compression from the aberrant subclavian artery.

The traction was working and within the first week, we saw a significant correction of her curvature.

Unfortunately, we began to see issues with Renee’s seizures. Or, what we perceived to be seizures. Like many parents of non-verbal children, we were often playing a guessing game as to whether Renee was truly having a seizure, was in pain, or who knows what. And that is what was happening in this instance. We didn’t know for sure, so the team treated her based on her presentation and they worked diligently to try and stop the episodes she was having. This resulted in Renee being moved six times in approximately two weeks from the MICU to the step-down unit, to a floor, back to another ICU, back to the step-down unit, and then back to the MICU.

By the time Renee made it back to the MICU she was in full-blown septic shock from a UTI. She was immediately started on multiple medications to bring her blood pressure up and they had an arterial line and a PICC line placed. By the next morning, they intubated her and told us that if there was any real hope of her being able to have the planned surgery, she would need to have a more stable airway, in other words, she would need to have a tracheotomy placed.

We were reeling from all that had happened to our girl. Many times, throughout Renee’s life my husband and I had talked about what we would decide if we were faced with the decision to have a trach placed and we were always of the agreement that should it come to pass we would not put Renee through such a procedure. That is in no way a judgment on any other family who chose to pursue that, it was simply how we as Renee’s parents felt about what we would or would not do and if we felt strongly that it would prolong any suffering for Renee, we would not do that.

Billy and I prayed about the best decision to make on Renee’s behalf. It was absolute agony for us to decide not to go ahead with the trach. We knew though that had we done that there was no guarantee that she would survive any other surgical interventions, or even the surgery to place the trach. It would also have meant that we could no longer care for her at home and that she would have to be placed in a long-term care facility that was an hour away from our home.