Marckis Mountz is the youngest of seven children, all raised by loving parents Jana and Ken. Marckis grew in his mom’s heart and not her belly. Marckis was born at 37 weeks weighing 2 pound 2 ounces and only 14 inches long. Being so small Marckis had to overcome many obstacles including a smaller head, limb differences in his right thigh and hand, a heart defect which required open heart surgery at 4 months and hearing loss. During his open heart surgery recovery Marckis had to be treated for gastroesophageal reflux disease (GERD) and feeding aversion – this resulted in having a fundoplication and a g-tube inserted. While he was in the hospital, his parents were only able to spend about an hour with him at a time. During one visit, Jana was planning on spending an hour with him, however, when she got to the hospital they told her she could stay longer with Marckis and she did. For two weeks she stayed with her son to make sure he was going to be okay and had a caring parent to watch over him.
He was finally able to go home in November of 2014 to the welcoming arms of a large, loving family. Ken and Jana knew something wasn’t right. Marckis was referred to a geneticist at birth due to his physical differences and medical issues which his parents were informed it was related to fetal alcohol syndrome. He was tested for different genetic disorders and each one came back negative; it wasn’t until during one of Marckis’ following appointments that his doctor and Jana came across articles about Cornelia de Lange Syndrome (CdLS).
The genetic testing was inconclusive because Marckis’ exact variation had not been seen before. They traveled to the Center for Cornelia de Lange and Related Diagnoses at Children’s Hospital of Philadelphia and met with Dr. Ian Krantz, a member of the Foundation’s Clinical Advisory Board. Dr. Krantz reviewed Marckis’ genetic results and did a thorough examination of him and then gave Ken and Jana exactly what they needed to hear – Marckis has mild CdLS.
“I’ve been there and have felt what others feel,” says Jana. “The frustration of hearing doctors opinions. Trying to make the best choices for your child and worrying about what the future holds. Marckis is now 5 years old. We have been told he’ll never walk, he runs. He’ll be deaf, after his second set of ear tubes he hearing is perfect.”
They don’t see CdLS as a disability. They see very special people in their own unique way touching peoples hearts. As for Marckis, he’s gonna move mountains and his parents pray that he’ll have a lot of CdLS friends besides him to do so.