It’s here! Rare Disease Day. 10 facts you might not know about PWS:
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 whenever 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.]
I had all the car windows open and the radio blaring as I was approaching the Bagnell Dam Bridge. My hands began pounding the steering wheel as I shouted, yes, I SHOUTED, “omg! Omg! OMG! I’m here, I’m here, I’m HERE! Alone!” The fact that I was approaching the Bagnell Dam Bridge is probably totally irrelevant. I could have been approaching any place other than home and I would have had the same visceral excitement engulf me.
I had just dropped my daughter and our two friends off at a camp in Missouri that devotes an entire week to people with Prader-Willi Syndrome. PWS is a condition which requires constant vigilance on the part of the responsible party in the household. Twenty-four hour supervision is needed with policing of any morsels of food in the house. Sure, the cabinets and refrigerator are locked, but for the brief moments that they are unlocked during meal preparation, items can quickly and stealthily go missing, so I sleep with an ear to the door listening for mid-night raids of hidden stashes of goodies. All this being told to you to explain my exuberance at having some much-needed and long overdue “me” time.
As soon as the plan to take her to camp and to stay nearby for the week formulated in my head I began researching resorts on the Lake of the Ozarks. Price, of course, is always my most determining factor with second on the list being a decent swimming pool. Even though I would be on a lake I wanted a pool so I could swim laps. I had a resort picked out simply due to price and pool and thought it looked very wild which did not appeal to me. I was looking for serenity and restorative peace. I came upon a place that featured a nice looking rectangular pool at a reasonable rate, including a month of June discount, I phoned and spoke to the proprietress telling her that I had been reading other advertisements that showed lots of activities, bars, and restaurants all on site. She stated that if I was looking for that type of activity hers was not the place for me to stay. That statement cemented my decision that I had found the perfect resort at which to stay. I had an adorable little one bedroom unit with a kitchen. The balcony had a bistro table which overlooked the pool, docks and lake.
My first Ozark morning after a winter of not swimming laps,( just water ex classes) started in the pool (well, AFTER a cranberry scone and a cup of decaf Gevalia coffee turned into a mocha with the addition of cream and Russell Stover chocolate!) and am quite impressed with myself.
I swam sets in increasing increments with a 45 second rest in between and stopped at 140
thinking that was a decent workout, then followed it up with 1/2 hour of ai’ chi.
I returned to my balcony for breakfast round two, a bowl of luscious berries, almonds and creamy Greek yogurt. The proprietor walked by so I inquired about the length of the pool and found that it is 12 yards which means that 146 laps is a mile, my instinct had me at just 6 short of that, not bad.
Anyway, my plan was to write this while eating breakfast round two, but my computer battery was dying, so I carried the laptop and camera inside. As I stepped inside, I received a phone call.I didn’t want to sit on any furniture in a wet suit so I shimmied out of it and just then realized I had forgotten breakfast round two on the balcony…..I knew I SHOULDN’T be naked to go out and get it, but was unable to get dressed without the use of both hands and my conversation was taking priority, so I left it for later. After we hung up, I threw on a long shirt and went out for my food….but a squirrel had beaten me to it!! There is a sign on the inside of my unit door that says “Please don’t feed the ducks”, I think they targeted the wrong critter. If a squirrel eating my breakfast is the biggest stress of the day, I will happily feed him daily. Come back for more Ozark Observations. The pool is again beckoning.