On July 3, 2014 at 11:51am Chaya Helen Appelbaum was born. She was small and had a weak cry, but otherwise looked healthy.
Several hours later it was clear that things were not going as expected. It became alarmingly apparent that there was something very wrong with our baby girl. On July 4th around 11pm Chaya was transferred to Seattle Children’s Hospital. On her 4th day of life her little body could not keep up and she went into acute respiratory failure. Chaya was rushed back down to the NICU. The next time we saw our baby girl she was limp and lifeless with tubes and wires connected to almost every part of her tiny body. The doctors did not know what was wrong, but she was very sick. Many tests later and about five weeks into our journey we got the ill-fated call from our geneticist. She tested positive for Prader-Willi Syndrome.
For those not familiar, PWS is a rare, medically complex genetic syndrome that results from a defect affecting multiple genes on chromosome 15. The syndrome affects all aspects of life– growth, metabolism, cognitive function, behavior, and appetite. Global developmental delay, low muscle tone, feeding difficulties, excessive sleepiness, sleep apnea, and behavioral challenges are just a few symptoms that infants, children and adults with PWS can experience. However, the cruelest symptom of all is hyperphagia, which is an involuntary and uncontrollable chronic feeling of hunger that left unsupervised can lead to morbid obesity and death. The chronic hunger is paired with a slower metabolism – people with PWS metabolize food differently and only need 60-80% of the calorie requirements of a typical person.
Despite all that is stacked against Chaya, she is thriving. She is determined, brave, smart, and funny. She loves animals, music, reading, and gymnastics. She works hard every day to master skills that come naturally to her typically developing peers. I believe Chaya will overcome many obstacles over her lifetime, but the hyperphagia with undoubtedly hold her back. She may never be able to live independently due to the life-threatening risks associated with an insatiable appetite.
The Foundation for Prader-Willi Research (FPWR) is committed to eliminating the challenges associated with the syndrome through advancement in research and development of therapeutics. FPWR is currently funding a number of studies and trials that target the treatment of hyperphagia. In addition, they are funding cutting-edge research to further understand the manifestation of the chromosomal defect on a cellular and molecular level in the brain and body tissues.
The foundation is offering hope for Chaya and all her friends around the world that are affected by PWS. Please give to support research that will change the future for Chaya and others with PWS.