Prader-Willi Syndrome (PWS) is a genetic disorder that occurs in one out of every 15,000 births. It does not depend on your race or whether you are male or female. It is an abnormality in the 15th chromosome—and it is recognized as one of the rarest genetic disorders.
PWS affects many different things in a child’s body.
Growth is affected, leading to weak muscles (if they are not treated with growth hormones). Metabolism is affected because the child uses a lot fewer calories, but they are always hungry. In our brains, we have a switch that says we are full, but in the brain of someone with PWS they do not. They will keep eating until either someone tells them to stop or until they die.
Joshua lives in Dumas, Texas, with his mom and dad, Severo and Josephine, and his 4 siblings. Severo and Josephine were told that Joshua would not live past 5 years. He is now well past that; last August he celebrated his 22nd birthday.
Joshua was diagnosed with PWS when he was having a “bad day” at a preschool program for children with disabilities. He did not want to do any of the activities, but just wanted to lie down. Josephine took him to the emergency room, which sent them to a hospital in Amarillo. They said his breathing was weak.
The family ended up seeing a lot of different doctors while in Amarillo. One of them was Dr. Garcia, a cardiac specialist. Dr. Garcia consulted with the family due to a heart mummer that Joshua had.
Dr. Garcia then referred them to a specialist at the Cook Children's Medical Center in Fort Worth. He suspected that Joshua had a rare syndrome. At the age of 4, Joshua was the first child in the Texas Panhandle to be diagnosed with PWS.
PWS is a lifelong struggle. When Joshua was old enough, Josephine and Severo educated him and his siblings on what PWS is.
To this day, the family all agree that it takes teamwork and support to help Joshua with his PWS. Josephine said, “I am proud of Joshua for the work he has done. He graduated high school with honors in band and is very active in the community and in his church.”
Joshua said, “I am thankful for my parents and glad that they educated me on PWS—and for not giving up on me.”
The daily struggles of raising a child with a disability can cause immense stress. But one look at that little smile makes it worth it.
Palliative care is about making the most out of life while supporting complex patients and their family. I am so glad we found them.