Our story began with a causal comment at a routine ultrasound when I was 30 weeks pregnant. The ultra sound tech mentioned that I had excess amniotic fluid and would need further tests done. Even at that moment, I didn’t think anything could be wrong. I have a beautiful healthy little girl and just always assumed I would have healthy children.

It was thought that Carter would need surgery immediately after birth because of a suspected blocked bowel – Causing the excess amniotic fluid or ”Polyhydramnios”. After he was born in December 2011, almost a month early, tests determined his bowels were working properly. At first we thought all was ok and we could take him home, but after keeping him for observation, they found Carter had other issues. Doctors discovered a heart defect – ASD/VSD, contractures in both hands, a small mouth making it difficult to eat, as well as a few other small issues. We were able to take Carter home a week after he was born, but after three weeks, feeding became more and more difficult and he wasn’t gaining weight. He was not able to finish a whole bottle and just seemed to tire out very quickly. It was decided his heart defect was in fact causing more issues than they originally thought.

On January 16th of this year, Carter had open heart surgery where they noted a missing Thymus glad which lead to a FISH study that determined Carter’s 22nd chromosome was partially deleted. Doctors also decided a g-tube placement and Nissen Fundoplication was the best course of action. After five weeks in the hospital, Carter came home in February and is currently still on a feeding tube. We still struggle with major GI related issues: he still can take nothing by mouth, has horrible retching episodes that put him in a catatonic state that no one can explain, and is behind in basic milestones such as rolling over. We work with Occupational Therapy, Physical Therapy, Speech Therapy and Early Intervention. He sees Endocrinology, Cardiology, Urology, Pulomonology, and a slew of other specialists.

We are heading up to CHOP in August to hopefully get answers as most doctors in South Carolina have never seen a child with this deletion. It has been very frustrating walking into a doctor appointment and soon realizing that I know more about my son’s condition than the doctor does. That is the most important point regarding this deletion. The parents have to educate themselves so they can be their child’s advocate. Only the parent truly knows what is going on with their child. Take notes, keep a journal, make a list, what ever needs to be done to keep up with your child’s care.

But with all of this said… I wouldn’t change anything for a second. Yes, I would trade places with my son in a heartbeat when he’s going through a bad episode. I would walk to the ends of the earth to find out why he can’t tolerate his food and isn’t growing like he should. I would never want to see him suffer another minute. But the gift he has given us — The gift of perspective and the joy he adds to our lives is immeasurable. His little milestones he does accomplish are our own little victories that we celebrate. No longer do we complain about the little things, because now we truly know what it’s like to have a rough day. But these tough times have made us so strong and we are now wiser, kinder, and better people. How lucky are we?