Before Ehran diagnosis in 2016, we searched long and hard to answer questions of why Ehran wasn’t developing at the rate of his peers. At the age of five months, Ehran had a rectal prolapse that resulted in two weeks of fighting for his life in the PICU. He was finally discharged weeks later with a temporary colostomy bag. During this time, geneticists used a different type of testing and told us that the odds of a diagnosis were extremely rare.
However, six months later I received the phone call that neither I nor my husband was not prepared to hear. Ehran was diagnosed with White Sutton Syndrome and we were told that it was extremely rare. At the time it seemed like the diagnosis of POGZ Mutation was cruel because nothing significant was known about it. Even though having a diagnosis was better than not having one, as a mother I felt even more confused and scared. It was not until I started connecting with other families that everything started to make sense. From the extreme acid reflux to the global delays, Ehran’s symptoms resembled a lot of what other POGZ families go through on a daily basis.
Ehran has been hospitalized on many occasions for many reasons, from a common cold to extreme vomiting. I am happy to say that as time has passed, things have gotten better. He is a healthy and extremely happy little boy. He is starting to crawl, bear weight, sits, communicates with us in a nonverbal way and loves kisses. Instead of focusing on what he can’t do, we celebrate what he can. As with any child, he is unique and he is such a joy; we are lucky to have him here with us. I have nothing but hope for the future and feel that the sky is the limit for Ehran and our White Sutton family.