Rare Disease Day, a chance to talk about Prader-Willi Syndrome

It’s here! Rare Disease Day. 10 facts you might not know about PWS:

random facts in no particular order gathered and shared by me

10. Prevalence: 1:15,000. [Anne’s note: we are some of the lucky ones who got a very early diagnosis. PWS was suspected for Katie at 4 days old]
9. The constant hunger of PWS is thought to be due to dysfunction of the hypothalamus and/or (not sure) disregulation of hormones of the gut. [Anne’s note: some describe it as “decreased satiation rather than increased hunger”…I never realized there was a difference…doesn’t not feeling satisfied mean feeling hungry? I don’t get it.]
8. The most common genetic cause of life-threatening childhood obesity is PWS.[Anne’s note: the good thing about the current, national hysteria over obesity is that PWS is getting some attention and being used as a “control” group in some hunger-related studies.]
7. Individuals with PWS typically have intellectual disabilities and exhibit more behavior issues compared to individuals with similar intellectual disability. [Anne’s note: I, too, have behavior issues when I am hungry.]
6.The constant need for behavioral management and food restrictions may cause stress for the family members. [Anne’s note: the use of the word “may” in this sentence cracked me up.]
5. PWS is a two stage syndrome. Stage one involves low muscle tone, feeding problems and poor weight gain in infancy. [Anne’s note: feeding “problems” become the main focus from the start. A cruel sense of humor has parents doing everything they can to get nourishment into their baby, only to have to restrict it in the next stage.]
4. Of people with PWS, 1 in 35 die from gastric rupture after eating too much in a short period of time. [Anne’s note: clearly the reason for vigilant supervision]
3. Speech, Occupational and Physical therapies are all beneficial for people with PWS. [Anne’s note: and if you are lucky enough to have a Lisa Nordstrom in your school district, a PH itinerant teacher is fantastic!]
2. Growth Hormone Therapy for PWS not only increases final height, but increases bone density, muscle mass,& stamina. [Anne’s note: thanks to Katie, who was a test subject for the research project discovering this]
1. More important than any of the facts you have just learned is this: There is LOVE! [Anne’s note: yes, there is love.]