A Community for Carter: The 5q22.2 Diagnosis That Changed Our Lives

April 4, 2017

by Kristen Cleveland 

Carter was born a beautiful healthy baby boy on September 7th 2014. He had eyes as blue as the sea. I remember looking into them and just having the warmest feeling. Everything seemed perfect.  

In the spring of 2015, we started to notice odd things that stood out to us. We took carter to his check up with his primary doctor. A million thoughts were running through my mind. Was Carter normal? Was something really wrong? 

When we met with the doctor he told us he suspected that our son had a case of what they call the “A” word. This “A” was autism. I thought ok I can cope with that. Autism is common. There are tons of children with autism.

He then referred us to a specialist with the Knights of Columbus. That specialist told us some shocking news: Carter wasn’t showing signs of Autism. She opened Carter’s palm and muttered, “I can’t believe this.” Then she went out into the hallway and brought in with her about six of her medical students.

“Look at this,” she said to them, opening Carter’s palm once more. “This may be the last time you will ever see something so rare.”

Of course, by then, I was telling myself to prepare for the worst. I had no idea what they were even looking at. She said “only 10% of children with down syndrome have this,” but she quickly reassured us that Carter didn’t have down syndrome.

I was so confused and puzzled. I felt like my son was being examined like a side show freak. Finally, the doctor explained that what we were look at was called a Simian Line, or a line that goes straight across the palm of the hand.  So what exactly did this mean? Did they know what my child had? Why he was so behind? This specialist was one of the top specialist around, and she was known around the St. Louis area as someone who could always “connect the dots” on difficult cases.

But she didn’t know what Carter had. I felt like I lost my faith, I felt numb. I didn’t know if I was supposed to be angry or sad. The emotions and the fear of the unknown was so powerful.

By this time Carter was getting therapy in all areas of development physical, occupational, speech, and development.

During October of 2015, after I dropped my oldest off to school for the day, I received a phone call from the genetic specialist.

She said she had the final results of Carter’s blood test. My stomach twisted into knots. I kept praying that she would say “everything is great”! Carter is just a little behind, but he will catch up in no time!”

That wasn’t the case.

“I’m sorry to tell you but, we found a duplication of your sons 5th chromosome,” she said.

I asked her what the name of the disorder was called. She Said “5q22.2” I thought in my head 5q22.2 what the in the world is that? I asked her what she could tell me about that disorder. Then, she said those awful famous words to me “We don’t know.”

 It’s now December,  it’s been three months since we heard the news. Therapy was getting pretty intense now. And we were seeing all types of doctors. It felt like SSM (Children’s Hospital) had become our second home. From MRI’s to surgery’s it was the real deal. I was living in constant fight mode. I had to stay strong and be the voice for my child.

 In the mix of all that Shiner’s Hospital stepped in and was able to fit Carter for his AFO’s (leg braces) which would help him walk straighter and build up his leg muscles. I called the doctors and therapists my own personal SWAT team, because that’s what it felt like. Everyone would talk among each other to help us in any way they could.

I completely gave into the stress. It took over my whole body, mind and spirt. It took me a while to find a balance in dealing with the anxiety and frustration that I was experiencing. What really helped was finally finding other parents who were going through the same challenges on social media and in support groups.

In the last few months, Carter’s health has been a little bit off balance. His head circumference has now reached 55cm. He had his MRI done. What they found was a pocket of fluid located on the back of his brain. He also recently was prescribed medication for epilepsy. Every day is a new adventure and we have our bad days and we have our good days, but there is never in-between.

Staying positive and building a strong support system is the key to parents who care for special needs children. My parents, therapist, and doctors have had such a huge impacted on my son’s health and overall wellbeing. I guess in a way you can say that they have also helped me keep my faith. If there is something that I’ve learned it’s to always believe in something much bigger than yourself. 

My relationship with Carter is more than just a relationship, it’s an understanding of something bigger, his dreams, goals and treating every milestone as a celebration.  It’s more than just the relationship between me and my son — it’s about having a relationship with the community of doctors and therapist who you undoubtedly bond with as the team works to make life work for Carter.


Stay Connected

Sign up for updates straight to your inbox.