As some of you know, my nephew Dax has recently been diagnosed with a very rare genetic disorder, Phelan-McDermid Syndrome, a deletion on Chromosome 22. I remember when I first heard the diagnosis and how scary it felt when the doctors said they really didn't know much about it due to it's rarity. Phelan-McDermid Syndrome consists of global developmental delays, intellectual disability, speech abnormalities, and Autistic symptoms. Kids with this disorder fall on a spectrum of these symptoms with no certainty of how severe it can get.
For Dax, it started with delayed muscle growth which led to his inability to hold his head up and ongoing Pneumonia. After he was diagnosed, he was signed up for Physical Therapy and Occupational Therapy in order to strengthen his muscles. Dax's low muscle tone eventually led to him aspirating into his lungs which resulted in a nine day hospital stay and surgery for a G-tube that will most likely be permanent. The G-tube allows him to feed directly into his stomach and prevents him from aspirating as his muscles are not strong enough for him to swallow. We also learned during that hospital stay that his brain MRI has worsened which also is affecting his low muscle tone and swallowing abilities. We've recently found out that Dax will have to have another surgery in a couple weeks called a Nissan fundoplication. It tightens the stomach around the esophagus and will hopefully prevent him from refluxing his G-tube feedings into his lungs. Although we are still in the unknown about the progression of his disorder, we are certain this is the beginning of an uphill battle.
Now let me tell you a little bit about my sister, Kendra. She is one of the strongest people I know. These obstacles she's had to overcome and the ones she will continue to have to overcome, has never stopped her from being the amazing mother that she is. She has recently had to quit her job as a nurse due to the multiple appointments and constant care Dax requires. She tackles every day with laughter, kindness, and love despite the struggles. She makes a constant effort to give Dax and his sister Reese the best life possible and rarely asks for help. With her not working and the multiple hospital bills and special equipment she has had to purchase for Dax, I am reaching out to ask for help.
Kendra will soon have to purchase a special bed for Dax that costs $3000.00. This bed is designed to provide safety and elevation that he needs for his G-tube and reflux. This bed is also unique as it provides a safety area for his special feeding equipment. Any little bit helps. Even if you cannot help with donations, you can help spread the word. Share our video and our page and spread the love. Awareness is the first step to helping other families who experience this diagnosis.
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