My son's doctor thinks my son might have Prader-Willi. This was tossed out from left field as we were in the doctor for something totally not related.
I asked what it was and she said, I really cant tell you, but my partner thinks its a possibility given my son's short stature and weight. I said "short stature"? He is 4 feet tall and he is only 4 years old. He also weighs 87lbs. I have done some reading about it and there might be some similarities which I always thought were behavior issues that we needed to address, till Prader-Willi was told to me. My son is scheduled to have testing for this done on April 30. I was hoping maybe you can shed some light on this subject for me and possibly tell me what I need to be asking the person coming to take the blood, and if they have a counselor what kinds of questions should I be asking them. I refuse to believe that my son has this disorder till he is tested. Thanking you kindly in advance.
My son is 16 weeks old and has PWS. He was diagnosed at birth. Don't panic till you get the blood work. Blood work takes a couple of weeks to come back with any results. You should visit a Dr. Moris Angulo who specailizes in PWS but is also a endocrinand a genetisist. He is the best. he is out of Long Island NY in Winthrop Pediatrics group. So, even if your son dosen't have PWS you are going to someone who could help you figure things out and if he does you are already at the best.
PS - don't read ANTTHING on the internet related to PWS, most of it is outdated information. You wouldn't even know my son has anything wrong with him at all, he is growing fine, thanks to the growth hormone and is considered AGE appropriate for all skills. he just is not walking yet but that should be in a few weeks or so. So don't panic. If you need anything or have anymore questions about PWS please contact me. Until you find out remember Don't Panic it really isn't that bad, honestly.
I have been terrribly ill this past week so I am sorry I didnt reply sooner. My son walked at 15 or 16 months also. He didnt crawl until about 12 months and that was only Army crawling, never on his knees. He got up on his knees later tho. The doctors never told me anything was wrong and that he would do it in his own time so I never thought anything of it.
The problem with the doctor your suggesting is he is in Long Island, NY correct? I am in Montana....LOL. We have a genetic hospital here in the state capital so I more than likely will use them unless I find they are not up to par. I do appreciate the referral.
Is there any information on the net that is up to date? If there is would you please direct me to it so I can be prepared for what I might be facing here.
My son was six weeks premature at birth but was large for that time. He was 5lbs 4oz. I have no background as far as I am concerned because I was adopted. I only have his fathers. I , however have Immune system problems (ie: Lupus, Fibromyalgia) and suffer from Arthritis (Oseto) as well. At age 40, I am in bad shape. My husband is 50 and his son from his first marriage is also having immune problems. He was diagnosed with MS when he turned 25 I believe. So I worry about those things with my son also.
Right now we are trying to get him well. We also think he has Asthma and he has been sick for some time now. I am taking him to Denver to a Pulmonary hospital to get these issues resolved so I can come home with a treatment plan for his doctor here in Montana. We have hardly any specialists where we live and it is so frustrating. I am glad to know that I am not alone,Please know that I am truly sorry for your son having this) but thank you so much for responding to me. My son is AGE appropriate also and is right on...with his cognitive development. Other than being a bit immature emotionally he is fine. He is very smart. I had him in Pre School this year at Montessori here and he was put in an Early Learner class (he would not POTTY TRAIN till end of last year..I mean REFUSED and we could not get him to go no matter what we tried-can explain more later on that) and they decided he was too smart for that class. He turned 4 n January and moved him up to a larger and older class once he did potty train. The only real thing I am concerned about is his always telling me he is hungry all the time(its every 1/2 hour and will not stop till he gets something or gives up because he doesnt like his choices.) (sometimes i feel its boredom because he is only child) and the fact when he was younger that I had to lock the fridge because he would not stay out of it and would eat cheese all the time. He is a very very very very very picky eater. He smells everything that is put in front of him before he eats it. He loved all foods till he learned how to say NO.and became stubborn. I have an inkling some of this if not all is behavior and resolved to him being a big kid. My husband was a big kid growing up. But I do see some similarities to PWS. It goes both ways.
Like I said, I refuse to believe anything till the test is done. Should I be asking them any questions before he has this test? Should I have him tested for other things other than PWS? Is there any genetic testing that can predict some things later on in life, since I have no background on myself.
Well thank you so much for replying and if you want I would love to email back and forth with someone who knows what its all about. If you write to me at my email ***@****, I would be more than willing to talk with you and give you my personal information. Thanks again.
The best person to contact would be JanaLee Heinemann at the National Prader Willi Site. www.pwsausa.org. She can lead you in all the right directions and where to go from here. You should also have a Prader Willi Chapter located in your state that supports children and adults with PWS in Montana. They would know who the best Doctors are and where they are located closests to you that have experience with PWS.
You gave me a bit of your medical backround but only less than 5% of PWS births are genetically passed down. Usually this is just a fluke. There are basically 2 ways to have a child with PWS. 1) On conception part of Chromosone 15 fell off which is called a deletion or 2) On Conception you made two MOTHER chromosone15's and kicked the father chromosone 15 out or the father didn't make a Chromosone 15 so you made and extra one this is called UPD (Uni parental Disomy). Now this is extremely important ******** Make sure when they test him for PWS they give him 2 tests one is called the FISH and the other is the Methelaytion test. Because if they just give him the FISH they are only testing him for the 1st example I gave you (The Deletion PWS). My son showed up negative for the FISH TEST but positive for the Methelaytion test which is UPD Prader Willi. So it's very important that he is tested for both because one test could be
(-) and the other show up (+) but still have the syndrome.
The fact that your son was premature raises question because usually PWS babies don't want to come out. You usually have to be induced and then end up having a c-section because they are breached.
Also, being that your son is intellectually right on is NOT normal for children with PWS. For the most part the average IQ is 77. My son is onlyof age I believe because he was put on the Growth Hormone at 6 months of age. he started crawling at the age of 13 months most if not all PWS children DO NOT crawl due to low muscle tone. Also, the average age for walking is 3.5 years of age for these children. But once again this is all research done when these children were NOT given Growth Hormone. So if your son was doing all those things hardly delayed and not even given Growth Hormone then thats questionable.
Also, as far as his behavior goes. Children with PWS need to have a VERY regamented Schedule. Does he get thrown off if he not on a set schedule, do you have one? If you don't have one I would start to see how his behavior progresses. Also, a real great tip for the eating is this. Buy a chalk board and put it in your kitchen. every night before YOU go to bed write down a menu and the times next to each meal or snack when you will be eating them, so that way he knows he will be getting fed and when so he doesn't keep asking. Also, keep a small box in the refrig with his name on it and fill it with healthy snacks. When it's snack time tell him to reach into his snack box and pick out one snack he can have. Children in general like this because it gives them a choice and also makes them feel like that they are in control and you can also control his calories.
1) Does he have thick syliva or secretions? If so, his teeth might be hard to keep clean no matter how much you brush them.
2) You said that he is being tested for Asthma? Prader Willi children/adults have some breathing difficulties/Apnea do to having low muscle tone.
3) If you look at his hands, does the outside of his hand outline starting at his pinky curve out or is it flat? If you look at your hand facing the plam of your hand you will see what I mean.
4) Does he have definition in his calves or are they flat/striaght up and down. No muscle tone?
5)Are his ears low set?
6)Does he have amazing eyes?
I can go on on..........just keep asking me questions!
Also, as far as being able to predict anything later in life, if there is something wrong with a chromosone it shows when they are fetus. That's why people choose to get Amnios. For the most part most things show up in amnios. But if he has something wrong with ne of his chromosones it will show up when he gets genetically tested. As far as testing for anything else I'm not so sure. You definitly should seek out a genetisist to speak with who has experience with PWS. I will keep in touch. Keep asking as many questions as you wish. GLAD TO HELP
I was reading up on some of your past write ups and some things caught my eye.
My son too had strider when he was an infant but eventually grew out of it. I notice though when he is sick because having thicker secretions he is as my doctor would say, more musical than most. Having thicker secretions could quite possibly be causing post nasal drip which is making him cough. The thicker secretions going down the throat could make it extremlely uncomfortable for him. I also have another question for you. Has your son ever fully vomitted on his own? Prader Willi children usually DO NOT vomit and if they do it's serious.
When reading one of your other posts I was extremely disturbed when I read that your doctor told you to just google Prader Willi Syndrome, how insensitive!!!!!! She prob. just has absolutly NO knowledge on the subject. If I were you I would def. get yourself a new doctor who is a bit more compasionate!!!!! Because if your son does have Prader Willi Syndrome most Docs that you run across will have NO experience with someone who has PWS because of how rare it is, but I will tell you that you need to find a doc who is willing to educate themselves and wiling to listen and be understanding and get you whatever it is you are going to need to raise your child.
Yes my son has very thick secretions. I also believe he still has apnea. When he was born he had it also....his doctor took him off the monitors at 4months and had no apnea treatment after leaving the NICU. I think he still has it. He snores badly and when he is sick he will be snoring then I hear like this gasp, then back to snoring. Yes his doctor is very insensitive. In fact she came in and threw it in my lap after she told me he had pneumonia. When we had his xrays done she finally looked at them (because the radiologists reports say atalectasis only) and said he had pneumonia. These doctors here I am afraid dont have the training that is needed to take care of my son. I am so saddend by this because we are having problems with him and its going to be costly to take care of him if we have to keep going out of state. We are in the process of getting him to Natl. Jewish in Denver for pulmonary testing done and to get to the bottom of why whenever he is off antibiotics he is sick and coughing. He has had a terrible winter so far. Been sick since November and I get Viral, Croup, Asthma, Pneumonia, Scarlett Fever (strep) etc etc. Then I get these Atalectasis , Nodularity, left upper lobe, 2.9cm consolidation in right middle lobe...its driving me crazy because I cant get a definitive answer from anyone or a definitive diagnosis. He wasnt treated with Antibiotics until February and needed them in November IMO. We had 3 ER visits from November to December and its always Viral. He has been on 3 rounds of AntiB's since February. Zpak, 2 sets of Augmentin (one he finished here a few days ago) along with Pedia Pred for 24 days. (steroids-which dont help me with his hunger at all). Albuterol treatments every 4 hours thru the night when in flares and they had him on Flow Vent, Singulair, Inhalers, all not doing a thing for him...the last time he did antib's and pedia pred, it took 6 days before he came down sick again with fever and mucous and COUGHING. So I am waiting for the shoe to drop here in a few days.
My son does get a little thrown off if we are not on schedule. Most days we are home and we have tv, reading time, play time and independent time (which he does not like one bit-its when I do my household stuff-he helps with that also but would rather play but gets very mad when I have to do these things. I have noticed that since we have pulled him out of his pre school he is just so irritable. And he was like that all through the ages of 2-3. We placed him in school at the end of age 3 and he seemed to get better when he would go there 3 days out of the week for 6 hours each day. (its been difficult for him tho..my husband worked out of state his first 3 years of life, then moved in when he retired from his job, and we separated for 2 months due to some marital problems over the holidays-we are together again now) So he could be irritable from those issues as well. I had him in counseling with a fun therapist a few times and she said he was as normal as kids come...his doctors are calling him emotionally immature. IMO he is a bit. He is also high anxiety.
My son is doing fine in most areas .Still cries very often and when someone says NO to him, also hides his face if someone corrects him for saying something he should not have or if he is corrected by someone he does not know very well (like a teacher or another parent etc) He still wants to be a baby sometimes. He will also fight getting dressed and things of such sort because he wants his mom to do it all the time for him so he can be a baby. (my opinion is BEHAVIORAL)
His calves are thick. I have that also. I mean not because they are chubby he just has short legs like me with bigger calves. Now that could be due to his weight. The more you tell me about this , the more I am believing he does NOT have PWS.
When my son Vomits he vomits profusely. He will projectile but it comes from coughing so hard.
Most of the things you described for PWS are not happening with my son. His muscle tone is good. He has some trouble in the legs when he has to push...lets say a bicycle pedal.
The reason for my son coming early is because I ruptured. But I ruptured on a Sunday and had no contractions for 3 days after that. I was in the hospital 3 days before all the water drained out and was put on Antibiotics and given Betamethasone . On Wednesday evening I finally started to contract and thats when they did the C-section. I had no pain of contractions becuase the minute he started moving and I was feeling it they took him. He stayed in the NICU for 2 weeks. No incubator. Nothing gave those doctors any indication he had PWS. He was a pretty normal preemie and did very well.
When the doctor came in and told me about PWS, I was floored when she told me to google it etc. She told me her partner mentioned it to her because of my son's weight and she thought he had a short stature which he does not. He is 46inches tall and weighs 87lbs. Most of what you said physically my son does not have. And what do you mean by amazing eyes? I think they are...they are beautiful blue. A real pale blue at that. My husband is blueish/hazel and I am brown. I will call the pws foundation and see if my state has a chapter. I cannot thank you enough for all your help. I will be back in a day or so to check to see if you replied ok? Thank you so much. Its late and I better get some sleep. My son has a follow up ped's check from his strep throat , Scarlett fever. Oh get this...we went to the doc this last round on being sick and my son had a strawvberry tongue. It looked exactly like a strawberry. So we showed the doc and she had never seen that, so then they checked my son for a rash..and he had that sandpaper feel to his upper arms and in his upper back. You know they never told me anything about that. She called her partner in to look, they whispered something and she got us on another course of antib's...and she said she didnt know...but that he needed antib's. So we did this round of antib's and pedia pred for 12 days now. He is doing ok at this time. Still has some slight wheezing..going on but lungs are clear. I hope his pulse ox comes up past 92 tomorrow. Well anyway, I came home and googled strawberry tongue and Scarlett Fever came up (it has been going around up here for that last 3 years). So I called her office back and it was put in his chart I called back with that..and she came in and talked to us last week and said it could have been lets test him for strep...I said after the fact he has already been on antibiotics? NO..NO. why make him do that if he has already been on them and he wont show it anyway? This is our 3rd doc up here. I hate all the peds up here so far...I am going thru them like water. But we did do a throat culture on him to check him for staph. No calls about his culture so I am assuming its negative. Antib's for the last 25 days should have killed whatever is going on with him...would you assume?
Ok well going now...just had to tell you that story and give you more of an idea what I am dealing wtih. Take care.
Just wanted to let you know we had our genetic appointment and they didnt even do a blood test they were so convinced he did NOT have Prader-Willi syndrome. Thank you for all your help and information you made available for me. I do hope you have great success in treating your child for Prader Willi and that your son will benefit from the treatments made available to him.
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