The story of Brianne
Brycen was born November 26th 2011. For the first 2-3 months everything seemed fine. We noticed when he was 4-5 months old that he was not able to hold his head up by himself yet and his body was limber. I said to myself that kids grow at their own pace, I didn’t think I wanted to admit to myself that something might be wrong with our child. When Brycen was 6 months old he got sick, a very high fever, fatigued, and just wasn’t himself. I took him to the doctor to get checked out and five minutes after being there the doctor came running back in with an oxygen tank, and told me that the ambulance was on its way to take him to the emergency room. My heart immediately sank and I became very scared not knowing what was going on. We were later transferred to a children’s hospital where they found out that Brycen had an Adenovirus which caused a severe respiratory infection and pneumonia. He was hospitalized for 2 weeks, in and out of an oxygen tent, and all kinds of wires hooked to him. While we were there we found out that he aspirates when he eats, so that meant a feeding tube as well.Â
A couple months later (October 2nd) while at a routine visit at the Children’s Hospital with his pulmonologist, a team of geneticists came in to talk to me about tests results they had gotten from when Brycen was in the hospital. They told me that Brycen had been diagnosed with Kleefstra syndrome. Again my heart sank… and my head filled with a million questions. What is Kleefstra Syndrome? What does this mean for Brycen? Is he going to be ok? The doctors answered some of my questions but there were still so many uncertainties. Not knowing what other health issues may come along, if he’ll ever walk, ever talk… and so many more.Â
We learned that Kleefstra Syndrome is a genetic disorder in which part of the 9q chromosome is missing. With this diagnosis Brycen has: physical and developmental delays, hypotonia, respiratory issues, reflux/aspiration issues, (had a feeding tube for 4 years), sleep apnea, and he is non verbal.Â
With the therapies that he receives and the wonderful support system he has, Brycen is thriving and has come such a long way since he’s been diagnosed.Â