An update on Connor...

One of the most terrifying things a parent can hear is that there is something “wrong” with their child. As a young, girl I dreamt of the day I would have children of my own. I had chosen names and had visions of what features they would inherit from me. Those names changed over the years and they look nothing like I pictured, but my dreams finally came true on January 31, 2008. We welcomed our first child, a healthy 8lb 8oz baby girl. Becoming a mother was much harder than I could have ever imagined, but also something I was meant to be. It took a while, but we settled into our new life. Two years later, I was pregnant with our second child. We were over the moon with excitement.

The pregnancy was uneventful and on November, 1, 2010, Connor was born weighing 7lb 9oz via cesarean section. He had the most beautiful red hair and tons of it. He seemed so tiny compared to his sister, but he was perfect! I remember looking at him soon after he was born and thinking he had eyes shaped similarly to individuals with Down Syndrome. I quickly brushed the thought out of my mind. At the time, I didn’t know much about any disability, but felt certain that if he had any underlying condition(s), we would know. This tiny baby had the sweetest, softest cry and the cutest tiny mouth. Given the difficulty I had breastfeeding our first, I wasn’t surprised by the difficulty I had nursing him and so began my pumping journey. Everything else was so much easier and I was in my mommy groove.

Along the way there were some hints that Connor may have some challenges ahead, but they eventually resolved or were explained away. We now know these things could be attributed to 22q11.2 Deletion Syndrome(22q)-nasal regurgitation, reaching milestones later, difficulty breastfeeding, that soft cry, and his tiny mouth. At 18 months, Connor had his first febrile seizure and was eventually diagnosed with a brain malformation: Perisylvian Polymicrogyria (PS PMG). What this means is that when Connor’s brain was developing, too many gyri, or folds, were created and they were unusually small. This type of PMG commonly affects the right side of the brain and is often associated with the 22q11.2 deletion, though we didn’t know about that yet. A few months later he was also diagnosed with an Atrial Septal Heart Defect as well as 22q11.2 Deletion Syndrome.

He was almost two years old before we had these answers. In our case, all of these diagnoses came as a relief. They explained the developmental delays, brain malformation, some minor health struggles and gave us a checklist and timeline to follow. The 22q diagnosis opened up doors to therapies and doctors we never knew existed. Connor started physical, speech, and occupational therapy by the time he celebrated his second birthday. Soon after diagnosis we discovered Nationwide Children’s Hospital had a clinic that specialized in treating children with 22q. I was expecting our third child at the time, so a month after he was born, the four of us boarded a plane to Columbus, Ohio. We were welcomed with open arms. The visit spanned two days, but was so eye opening. We were able to speak to doctors that specialized in working with children just like Connor. They were so knowledgeable and we were left with no question unanswered.

We have been very fortunate that Connor has always been a fairly healthy child. Other than frequent ear and respiratory infections, he hasn’t been plagued with multiple bouts of pneumonia or had any major hospitalizations. At two years old, he had his first of three sets of tubes. When he was three, he had his heart defect repaired via cardiac catheter. Both procedures were performed at our home hospital in New Orleans, Louisiana. Although our local ENTs are amazing, when it was time to address Connor’s velopharyngeal dysfunction surgically, we knew Nationwide Children’s Hospital was the only place we would feel comfortable having it performed. Everything from the facility to the doctors, nurses, and support staff was beyond our expectations. Connor’s speech has improved drastically due to his years of speech therapy and this procedure. Today Connor is ten years old. With the help of his therapists and special education team he is thriving in third grade. He loves Pokemon Go, playing at the beach, and visiting Disney World with his family.

How old was Connor when he was diagnosed with 22q? - Connor (now 6) was almost 2 years old when he was diagnosed.

How has 22q changed your family for the better? - Since Connor was diagnosed, we have grown closer as a family.  Our priorities have changed a lot and we don't take things for granted like we did before.  We've come to realize some things just aren't important and we don't really sweat the small stuff.  Every accomplishment is celebrated no matter how insignificant it may seem.  We've also become more compassionate and understanding of not only Connor's struggles, but the struggles of others.

What is Connor's greatest challenge with this diagnosis? - Connor's greatest challenge is overcoming his speech delay.  Due to velo-pharyngeal dysfunction and his palatal structure, it is extremely hard/impossible for him to make most sounds.  He has been in speech therapy since he was two and recently had velo-pharyngeal flap surgery.  We are optimistic that with continued speech therapy, he will make great strides in the coming months!

What is Connor's greatest accomplishment? - He's probably going to kill me for this one when he is older and reads this, but potty training has been a huge obstacle Connor has recently overcome.  One day it just clicked and he hasn't looked back!

What one thing do you need most from the 22q community and/or our foundation? - Resources for families and education for the community!  There is so much misinformation about 22q.  Families need to be equipped with the appropriate resources and information to navigate doctor's visits, therapy sessions and educational goals.

What is something that you enjoy about being part of the 22q community? - I love that I have "family" all over the world.  We may deal with a variety of symptoms from the deletion, but we come together and cheer one another on.  I know my 22q family feels just as much pride when Connor accomplishes something as I do and I feel the same about their children.  Some of my best friends have been gained through the 22q community.  I have also been afforded many opportunities since joining this family.  I have been able to speak to my state senators and representatives to help pass legislations surround 22q education (Thanks Joy!).  I was also able to join a team of 11 other wonderful people to raise awarness and funds for 22q by running a 200-ish mile relay (Thanks Katie!).  These are things I would have never considered before.