11 yr old daughter diagnosted- bi-polar, mild mental retardation, premature adrenarche

[lookingfwd2]

She has excessive hunger.  She can eat well balanced meals with water to fill her up and she doesn't seem to get full.  Obsession with food to a point that it is unhealthy.  She will eat until she feels sick.  She is 5'4" and weighs about 300lbs.

I am wondering if she could have "prader-willi syndrome".  What tests would her physician need to order to rule out?

Thanks in advance.

[cead]

Dear lookingfwd2

I beg to disagree with BeeFree with regard to what she said about "If she does have it, it does not necessarily mean forever."

PWS is definitely a "quite forever" thing!  It is genetic!  

Prader-Willi Syndrome is genetic.  She will have PWS throughougt her lifeftime.  That is, IF she should be diagnosed with PWS.  It does not go away.  One cannot change their chromosomes.  

PWS can be managed. It is a very difficult syndrome to mange but can be done with great diligence, hard work, and dedication by ALL care providers. Including family, friends and school.  You will probably have to lock all food sources. Cupboards, trash cans, etc. and advise your neighbors not to give any food no matter what clever excuse she makes up to get it.  

People with PWS are very creative in their food-seeking behaviiors.  But not always very creative at hiding it (often leave the wrappings in plain sight when they finish eating).

The symptoms that you have mentioned that go with PWS is that she can eat and drink water to fill her up and still doesn't seem to get full, her food obsession and her weight. People with PWS do not sense satiety and never feel full.   You also mentioned a diagnosis of bi-polar which could describe some of the bizarre behaviors that people with Prader-Willi Syndrome can display.  

PWS is a multi-dimentional disorder. They have very phenotypic dysmorphology.  They look like they are all in the same family!  

PWS has a good national website and it also can refer you to your local PWS chapter.

I agree with BeeFree that you should do methalation testing. The "certain chromosome" that Bee Free is referring to is #15.  With a paternal 15 q11-q13 deletion.  You would have the testing performed by a genetics doctor.  A geneticist can usually be found at a good major teaching hospital or your GP can refer to one.  You seem to live in an excellent part of the country to locate a good genetics doctor.

I believe that the top medical genetics specialist in the country in the field of PWS is Dr. Suzanne B. Cassidy, M.D. and I think that she might be located in San Francisco at the moment. University of San Francisco, genetics dept.

The doctor who originally discovered the link to PWS and the # 15 chromosome (in doing his masters or doctorate thesis, not sure which) has his lab at Emory University genetics dept. at the moment.

The national PWS association has its own website and you can google it.

She has signs of PWS but you cannot say it for sure until devinitively confirmed.  

It would still be a good idea to treat her as PWS for the moment, for lack of more specific diagnosis, and feed her accordingly.  They have great ides for feeding and diet menus and recipes at their website or at the chapter sites.

Get genetic testing done. maybe FISH, Cgh microarray, and methalation.  

Something should show up somewhere if it does not run in your family and especially I would have FISH and a Cgh array done in case it is something different, as you did also say mental retardation

Cead

[BeeFree]

The doctor would need to do genetic testing; specifically methylation testing for a certain chromosome to detect Prader Willi Syndrome. She has some of the common symptoms of PWS but don't jump the gun until you do the tests to know for sure. Good news is PWS can change throughout the person's lifetime. If she does have it, it does not necessarily mean forever.