Amalia's Story

Amalia is a very cool toddler who remembers the name of every animal she meets. She enjoys painting, listening to her one record repeatedly, and reenacting The Three Bears. She is incredibly social, making sure to greet every person in the waiting room at her appointments. If you want to ask her a question, be sure to give her plenty of time to process and she will likely say the best thing you ever heard. To know her is to love her.

When she was born she had low muscle tone and a very difficult time feeding. At 5 weeks old a genetic test confirmed she had Prader-Willi syndrome (PWS). Prader-Willi syndrome is considered rare affecting 1/15,000-1/30,0000 births with an estimated 10,000-20,000 living individuals in the US.

Prader-Willi syndrome has many symptoms, but the big one is what is what is known as “hyperphagia” and that is the inability to feel full which leads to dangerous food-seeking behavior. A person with PWS needs constant supervision around food to keep them safe. Hyperphagia usually sets in around ages 4-8, so Amalia isn’t there quite yet. But she is on the diet she will need to be on for the rest of her life. Thanks to her personal chef aka her dad; she eats only very delicious, clean low-carb foods. Her dietary needs are a gift to her whole family because now they are all healthier, too!

As with most rare diseases, there are NO treatments for the most challenging aspect of her disorder. Luckily, Amalia is part of a bigger community fighting to change that. Her family’s hope is that by the time her hyperphagia sets in, there will be a treatment available so she can focus on being her cool self rather than being hungry all the time. Thank you for taking the time to learn about Prader-Willi syndrome, for awareness is the first step toward securing meaningful treatments for rare diseases.

Prader Willi Syndrome

Prader-Willi syndrome (PWS) is a genetic multisystem disorder characterized during infancy by lethargy, diminished muscle tone (hypotonia), a weak suck and feeding difficulties with poor weight gain and growth and other hormone deficiency. In childhood, features of this disorder include short stature, small genitals and an excessive appetite. Affected individuals do not feel satisfied after completing a meal (satiety). Without intervention, overeating can lead to onset of life-threatening obesity. The food compulsion requires constant supervision. Individuals with severe obesity may have an increased risk of cardiac insufficiency, sleep apnea, diabetes, respiratory problems and other serious conditions that can cause life-threatening complications. All individuals with PWS have some cognitive impairment that ranges from low normal intelligence with learning disabilities to mild to moderate intellectual disability. Behavioral problems are common and can include temper tantrums, obsessive/compulsive behavior, and skin picking. Motor milestones and language development are often delayed. PWS occurs due to abnormalities affecting certain genes in the proximal long arm of chromosome 15 when deleted from the father’s chromosome 15 and hence referred to as a genomic imprinting disorder which depends on the sex of the parent donating the chromosome leading to the chromosome defect in the child. These abnormalities usually result from random (sporadic) errors in egg or sperm development, but are sometimes inherited.