My daughter was a planned pregnancy after marriage. My husband and I were planting roots making a family together. Never did I expect my first child to be born with a rare syndrome, so rare I never knew it existed. And I worked in mental health with individuals with disabilities.
At our 24th week checkup is when my journey really began. We learned that we were having a girl (that was my dream for motherhood) but we also learned that the baby only had a one vessel cord not two like they should. I had to go see a specialist. That’s where my husband and I learned that our baby had a congenital heart defect, and the plan was she needed heart surgery after birth.
My husband and I were beside ourselves. The type of news we kept getting from all the doctors just got deeper and heavier and more overwhelming as days and months went further along into the pregnancy. I was asked to get amniocentesis testing done because depending on what syndrome or chromosomal abnormalities the baby had would depend on if the Doctors could even operate on her. The test came back negative…We are just having a baby with a heart condition. Well, 39 weeks into my pregnancy I’m ready for an induced labor down in Boston at Brigham and Women’s Hospital because my baby girl was being transported to Boston Children’s Hospital for her heart surgery. I was in labor for 72 hours; my baby did not want to make her special debut entrance into the world. With a little vacuum assisted in labor she finally came out!
My husband and I had a plan that he goes with our baby girl and my mom stayed with me! My poor husband watched our daughter die for 3 minutes in the NICU, the doctors brought her back but not without complication, her esophagus didn’t fully develop in utero. She had what the doctors call esophageal fistula. Her bottom part of her esophagus was attached to her lungs air tube and her top part of the esophagus stopped midway through. Basically, her belly was being pumped full of air and she herself couldn’t breathe. My husband thought he would have to come back and tell me our baby girl died! Thank God he didn’t.
This was a surprise to all. The ultrasounds never picked up this key abnormality. She had to be put on machines overnight to breathe and went into a 7-hour life or death surgery the next morning! My mother just kept saying “This is not how it is supposed to be, having your first child.” Well, that is how it went.
She survived but not without complication. A seizure, a few blood transfusions, some pneumonia, failing her eye test and her hearing test and having to be fed through her nose with an ng tube. It was 56 days of pure hell. And during it all I had a geneticist come to my daughter’s bed side in the hospital to tell me that given our daughters physical feature an abnormalities he was positive she had CHARGE syndrome. The keyhole shaped pupils in the eye, the short chin, the low set ears with not much of a lobe, the short chin, the asymmetrical face, and my response was CHARGE what?
Well, I educated myself and fast. The geneticist said we would have to do a test to be sure which takes 3 months for results, really 3 months, okay then. And while I traveled back and forth from New Hampshire where our home was and Massachusetts to where my daughter was, I continued to ask questions and educate myself and find support! My ultimate goal was to have all her needs met before I brought her home and she needed one more surgery before she came home a feeding tube called a Mickey. She was born in July and was discharged from the hospital in September, a very happy day for our whole family!
Our journey certainly wasn’t over, these children born with CHARGE need so much love, time and patients and I am very lucky that I could give her all three of those things. I worked with her every day on learning to feed by mouth. Her heart condition that was the number one concern to start with became a “lets monitor and see” situation because it wasn’t as bad as the doctors all thought it was. Thank God for that, our family had a lot on our plates!
Once she was home, I just built a team of doctors and we just keeping going to all those yearly appointments. We keep scheduling those surgeries and procedures like ear tubes, endoscopies, low vision evaluations, EEG’s EKG’s, development clinic and the list keeps going on and on. My daughter sat up for the first time at age 1, my daughter stood up by age 3, she walked independently by age five with a walker and said her first words at age 6.
Now she is 10 years old and she’s pretty independent. She still needs that 1:1 care and right now our big to-do is behavior and emotions alongside of her visual impairment and hearing impairment. And much of the behavior and emotions are typical 10-year-old girl stuff. She doesn’t want to be told what to do, she wants all the control, and she wants to have fun!
I wouldn’t change anything about our journey if I had to do it over again. She was a gift and I’m her biggest fan and she teaches me the biggest life lessons, be patient, be kind, give grace and if not today try again tomorrow!!!
What would you like to tell other people about CHARGE syndrome?
It’s unique, unlike anything else I’ve ever seen or learned. Patients and Humor will get you through. These children do not come with a manual. And every child with CHARGE is completely different from the next so expect the unexpected. And build a good support system because raising these children takes a village!
The 2023 global theme for Rare Disease Day is “Health Equity.” What does equity in health mean to you?
Equity and health means to me that everyone has the chance at quality of life regardless of their financial status. People with disabilities are a minority group and they just shouldn’t be treated that way. The world needs to adapt to the disabled versus the disabled adapting to the world.
