This is Skylar Rayne Doak. She was born on March 2, 2016 and is only five months old. Shortly after coming home, Skylar began having trouble keeping food down. This continued for a few days and eventually she was admitted to the Children's Hospital of Philadelphia. A week after being admitted, she was transferred to the NICU as she began developing additional symptoms and issues with kidney function, hormone production and began developing blood clots.

Originally, Skylar was diagnosed with congenital nephrotic syndome and we were anticipating that she would require a kidney transplant to survive, but her mother Jessica met with geneticists and metabolic specialists on Wednesday, August 10th, and received some devastating news. Their initial diagnosis of  was only partly correct. As it turns out, Skylar has an even more rare genetic disorder called PMM2-CDG, which brought on the nephrotic syndrome.

PMM2-CDG has only been found in approximately 800 individuals worldwide. It is an inherited condition that affects multiple body systems. While there are cases of individuals that survive infancy and into childhood and even adulthood, it seems that Skylar’s condition is more severe, and sadly, more life threatening. There are a number of severe complications that she may face before inevitably succumbing to her condition. Individuals with PMM2-CDG often experience poor brain development in the cerebellum which controls movement, are at risk for build-up of fluid around the heart, stroke and multiple organ failure.

At this point, her team is working to get Skylar stabilized and off the ventilator. The doctors have already found a build-up of fluid around her heart, but there is still a possibility that Jessica and Jimmy may be able to take her home and the hospital has offered to get her set up with palliative care, and eventually hospice care. Unfortunately, her team is not certain she will stabilize. 

Her mother has been lucky to be staying at the Ronald McDonald house in Philadelphia and has been by Skylar's side every day, but she is really struggling to make ends meet at home and provide for her other two children and even herself. As hard as this is to say, Jessica and Jimmy will be looking at funeral costs as well.

Thank you for taking the time to read about our beautiful girl. This is truly the worst news that a parent could ever be given.