Floppy, Quiet or Sleepy Baby – Does my Child Have Prader-Willi Syndrome?

Our mission is to eliminate the challenges of Prader-Willi Syndrome through the advancement of research.

My Baby was Floppy, Quiet and Sleepy

“My 2 year old baby was floppy, quiet and sleepy.  She also had trouble lifting her head.  We kept trying to find a diagnosis, but it took the doctors 2 years until they diagnosed her with Prader-Willi Syndrome.”, said Shawn Johnson father of Ellie Johnson (3 years old with PWS).  “Now that we have the diagnosis we have started Prader-Willi Syndrome specific treatments like Growth Hormone and Ellie is doing amazing.  If your child seems to be floppy, quite or sleep, I recommend you ask you pediatrician or geneticist about Prader-Willi Syndrome.” 

How is Prader-Willi Syndrome diagnosed?

A suspected diagnosis of PWS is usually made by a physician based on clinical symptoms. The diagnosis is then confirmed by a blood test. Two types of tests can be used to confirm the diagnosis. A “FISH” (fluorescent in situ hybridization) test will identify those patients with PWS due to a deletion, but will not identify those who have Prader-Willi syndrome by “UPD” (uniparental disomy) or via an imprinting error. Methylation analysis will detect all three forms of Prader-Willi, so if PWS is suspected but a FISH test is negative, a DNA methylation test is warranted.

Almost all cases of PWS can be confirmed by one of the above tests. However, in the rare event that laboratory tests do not confirm PWS, a clinical diagnosis can be helpful for the development of a management plan.

For more information, please contact tanya.johnson@fpwr.ca

Here is some more information About Prader-Willi Syndrome

If you have a diagnosis, go to Newly Diagnosed, What Now?

3 Responses to "Floppy, Quite or Sleepy Baby – Does my Child Have Prader-Willi Syndrome?"

  1. AnnaLisa Holland Says:

    My granddaughter is 6 months old, she sleeps 12 to 14 hours a night plus takes 2 2 hours a day.She is little over weight. She does babbly’s but she should be in me opinion a lot more, very quiet baby.She is just starting to roll over, however most of the time she just lays there.I’m very concerned about her and her doctor says” everything is find’. I’m a mother of 5 children and grandma of 8 grandchildren. I feel that she is not developing normally.

    Very concerned grandma

    Posted on July 27th, 2010 at 9:34 am

  2. lucy Parrott Says:

    Life expectancy of a pws child

    Posted on August 8th, 2010 at 7:17 pm

  3. Sharon Says:

    My sister in law lived to 63; we only realised in her late 50’s her PW syndrome. We knew she was developmentally delayed. She did have behavior and health issues typically described of PWS. She was challenged in some ways and not in others. She led a long life considering her weight, her heart and diabetes condition. She never lived independently. She lived with family until age 49 then in a sheltered living situation until the age of 57. when she went to live in a nursing home ; she was mobile but her personal care was demanding. We believe that because of the present awareness of PWS; that children with this condition, in a behavior managed environment , might avoid the chain of complications of obesity that my sister in law experienced. She was a happy individual , very sociable and well liked by many.

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