Floppy, Quite or Sleepy Baby – Does my Child Have Prader-Willi Syndrome?
My Baby was Floppy, Quite and Sleepy
“My 2 year old baby was floppy, quite 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.
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Here is some more information About Prader-Willi Syndrome
If you have a diagnosis, go to Newly Diagnosed, What Now?