Experience stories

Caring for a Medically Complex Child


My first-born son has given me a greater voice than I knew existed in my soul.

Greater Voice

During our twenty-week ultrasound, my husband and I found out that we were expecting a baby boy. At that time, we were referred to a specialist and told he had Congenital Diaphragmatic Hernia (CDH), which would entail many medical complications and specialty care at the hands of Boston Children’s Hospital. We were counseled by geneticists and offered amniotic testing to test for an additional syndrome with the CDH diagnosis, we were additionally offered an abortion. I remember that appointment being the starter fluid I needed as a mother to use my voice.

At thirty-seven weeks Abel was born and immediately intubated. He was placed on ECMO (a machine that works as the heart and lungs) for an entire month. It felt like time was standing still as he battled pulmonary hypertension and he still needed to have the hole in his diaphragm patched and his organs surgically moved to where they were meant to be. Geneticists became involved during this time because Abel showed physical characteristics of CdLS. After almost two months the genetic results confirmed that Abel’s NIPBL gene was mutated. Our truth as parents at that time was that we didn’t “care” about his syndrome and didn’t talk about it, frankly because his clinical status was too critically ill to put energy into the unknown world of CdLS.

Most of Abel’s first eleven months in the ICU stemmed from how sick his heart and lungs were, as well as a long course of sedation caused by being intubated for so long. Abel eventually underwent a tracheostomy and surgical G-Tube placement. After 323 days in the hospital, he came home to New Hampshire.

I was fortunate enough during Abel’s stay in Boston to be in driving distance of the hospital. This allowed us to rent an apartment next door to Boston Children’s with the help of a military organization, while my husband commuted to the National Guard full-time for work in New Hampshire. My career diminished as I stayed by my son’s bedside. The stress of commuting and living in two different places came with its challenges, but we knew that Abel depended on us staying strong as a unit. The “hurry up and wait” military mindset kicked in, but the pressure of keeping our heads above water through the roller coaster of emotions taunted us many times. We wanted so badly to bring our little boy home. Staying bedside was one of the greatest starts to our marathon as a family. We gained so much insight and knowledge on how to properly care for Abel that it became second nature to be his voice. I was his continuity of care around the clock and I knew that I was not only his mother, but I was about to become the advocate that my son needed for the rest of his life.

Some of the hardest things that have come across in our journey with Abel has been knowing that we live in constant fight or flight. Abel is ventilator dependent around the clock and requires twenty-four-hour monitoring. He likes to keep us on our toes with his spit fire personality, glowing smile, his need to be on the move and his love for pianos and music. One of his favorite new tricks is pulling his trach out. Abel has a kind group of nurses both in Boston and at home, which keeps all of our spirits energized and more grounded comfortably at home. Medically and developmentally Abel is reaching milestones that we questioned if ever would reach. In the midst of Abel’s day to day care, comes all of his medical coordination. With over a handful of specialists, DME and prescription suppliers, dual insurance companies and in-home supports, it has been quite the juggling act. I rely on coffee, e-mail correspondence and the use of a large shared calendar for effective communication and to not lose track of appointments or deadlines. Some of the hardest things I’ve had to fight for have been nursing coverage, emergency medical equipment and medications. I live for appealing the denials and knowing Abel’s rights by educating myself, researching into the late hours of the night online.

I knew I had found my purpose within the time I’ve spent caring for Abel. My passion is to help other families advocate for their loved one and to feel like they aren’t alone.

I opened up a business (My Hero Calls me Mama, LLC) as an avenue to share my perspective. Although it is a small advocacy-based business where I share ideas and market medically inspired apparel, the long-term goal for my business will take me into social work. The personal goal is to keep rippling positivity and share the raw and real moments with other families, and to inspire them to do the same. AbelEventually I hope to assist others in taking their voices and medical needs and assist in transitioning from the hospital to the home setting. I think it’s important to know that although so many of us might share similarities in diagnosis, that our journeys are all very different. Leaning on each other for support is something I am grateful for as a young parent coming into the CdLS community over the last few years. My personal message to others that have a loved one with not only CdLS, but any medical challenge is to remain non-judgmental of the peers around us who might be going through something we deem as a similar situation that we’ve been through. I am proud to know and be part of the CdLS community. Without my Abel, I would’ve never been connected to so many others who live around the world and can understand the feelings that I can’t put into words sometimes.

It’s exceptional to have a community that we can rely on, but we must be gentle with others. We all need to keep our voices strong, but in doing so we first need to be kind to ourselves and others. For every person I’ve met along Abel’s journey I refer to them as “Team Abel”. We are all a team in this medically complex world, no matter how similar or different we feel during the ups or downs, the happy moments or through the moments of terrifying grief or loss.

Find other pages that share the same topic as this page Family Empowerment7 Cornelia de Lange Syndrome (CdLS)? Family Empowerment2
Deana Taylor
Deana Taylor

We thank Deana for sharing her Story about Abel with us.

Page history
Last modified by Gerritjan Koekkoek on 2021/07/04 22:01
Created by Gerritjan Koekkoek on 2020/03/12 08:50

About the website contents

All of the information on this WebSite is for education purposes only. The place to get specific medical advice, diagnoses, and treatment is your doctor. Use of this site is strictly at your own risk. If you find something that you think needs correction or clarification, please let us know at: 

Send a email: info@cdlsWorld.org