Need help, advice on genetic testing, Prader Willi/PWS

[fnpmama]

Okay so i have been lurking and I've finally got the guts up to post here. 

My 20mth old DS has been having problems for a while now.  I have been concerned and brushed off my my Pedi, but it is not going away...

Where to start - welll I guess I will list what I am seeing

• He is 20mths old and is always hungry, constantly. He can never get enough and sometimes chokes due to voracious eating and not enough chewing. He cries/screams, throws a fit at the end of every meal.  He seems never satisfied. Meals have become so stressful due to his fits. I feed him resonable toddler portions and allow seconds and thirds of healhty foods.  (We don't do desserts,cookies,chips, processed foods, etc.) Everything is home-made from scratch and organic when possible. He refuses milk, so doesn't drink any of that, but he does eat just about everything else, cheese, yogurt, fruits, veggies, chicken, fish, pasta, rice, couscous...
• He is 29-30lbs and 33 inches tall
• He has all the facial features of Prader Willi (almond shaped eyes, thin upper lip, down turned corners of mouth, small appearing mouth) as well as small hands and feet and very small genitalia. 
• He was a normal neonate, formula fed due to my supply issues (IGT), but generally good suck and no hypotonia
• He achieved most developmental milestones on time except for crawling, crawled at 12 mths, walked at 13mths
• His language development seems good, he has 3 -4 word sentences right now, sings songs.

I was concerend about Prader Willi after a friend brought it up when I was describing to her his insatiable appetite and how it seems like he is always starving even though he is well fed and pretty chubby.  I became very concerned about the possibilty of this diagnosis and brought him to the pediatrician who told me I was nuts to bring my healthy kid to the office just because he was "greedy". I left feeling pretty bad - but he hadn't answered any of my concerns about Prader Wili, infact he mentioned to me that he had never actually seen a patient with Prader Willi syndrome; he had only seen it in his textbooks.

Now I do have an older DS who is nothing like this.  So I know a little about more normal toddler eating habits. And certainly to me younger DS's appetite and behavior seems really abnormal.  Most people who see him can't believe how much he eats.  And everyone jokes about him all the time.  But I am not finding his chubbiness and appetite funny, I am just really worried about the distinct possibilty that he could have Prader Willi or another medical problem.

Can you mama's help me advocate for him?  Any thoughts on how to get him tested? We have an HMO and there are no geneticists in network and without a referral from my primary I don't think I can get in.  Anyone with a child with PWS that can help me?

Edited by fnpmama - 1/4/11 at 1:59pm

[Emmeline II]

You can read below the videos--HMOs and referrals

http://www.videojug.com/interview/hmos-and-referrals-2

After reading the above, I think I would type up a referral later and try to get him to sign it--your son is too young to be "greedy." You may also be able to request in PCP.

Diagnostic Criteria 

How to Appeal an HMO's Decision Regarding a Medical Procedure, Prescription, or Specialist Referral

[fnpmama]

Originally Posted by Emmeline II 

You can read below the videos--HMOs and referrals

http://www.videojug.com/interview/hmos-and-referrals-2

After reading the above, I think I would type up a referral later and try to get him to sign it--your son is too young to be "greedy." You may also be able to request in PCP.

Diagnostic Criteria 

How to Appeal an HMO's Decision Regarding a Medical Procedure, Prescription, or Specialist Referral

Thanks for the reply, I've been worried about this for close to 4-5 months now, so I have looked at diagnostic criteria for hours, also working in the health profession I have access to and an understanding of medical literature so I have read alot.  .  My son did not have neonatal hypotonia with poor suck, so he does not fit that characteristic which is supposedly a hallmark for the syndrome. And so on that grounds I should feel reassured, but I can help looking at him and watching him eat, feeling that something is very wrong.  His facial features are exactly like any picture I have seen of a child with PWS.

Thanks for the HMO info.  I am pretty sure if I get a letter of medical necessity from my primary then we can see the out of network geneticist and have it covered. I also am pretty sure as an educated health professional I could write the letter myself and then try to have him sign it.  But I am too much of a play by the rules person for that.  If the pediatrician doesn't think seeing a geneticist is medically necessary, I do not want to presure him to sign a letter that states that. He has to make the decisions he is most comfortable with as a provider, and he needs to stand by those decisions. 

Maybe we should see a new pediatrician (my plan has no restrictions on that) and see if a second set of eyes and possibly a better listener, might be more helpful.  Possibly, next time I won't let them call him "greedy". (That kinda hurt...)

[chiefmir]

I've only had two experiences with children who had PWS (both definately had it- both were diagnosed via genetic testing).  One was a child I met when he was 13- I didn't work with him often directly, but was doing my intership for graduate school at a site where he recieved mental health services.  The other is a child I know much more about-- she's now 7 years old, and is (I think) my 2nd cousin (a few times removed?) or something.  In both cases, the children had obvious hypotonia and feeding problems due to poor sucking.  These issues were obvious pretty much from birth on.  Neither met developmental milestones on time.  In paeticular, they had speech and OT issues related to their low muscle tone when they were young... each recived services through early intervention starting in infancy, as these delays were significant and obvious.  I don't know when the child I worked for was diagnosed definatively, but my cousin was diagnosed via genetic testing some time shortly after her 1st  birthday?... I don't know exactly.  I also know that, for both of them, the voracious eating issues didn't emerge then they were toddlers.  For the 1st kid, I believe he began to have behavior issues around eating towards the middle of preschool age (maybe 3-4?) and with my cousin, she is now 7 and still doesn't exhibit significant evidence of problems with eating.  This may be at least partly due to the fact that she had a diagnosis before she was really an "eater" so her mother has had strict control and rules about food pretty much from the beginning which may be helping the issue to some degree.

I definately would continue to push for a referral which would get you to see a geneticist or other dr who has some experience in these areas.  Is there a large children's hospital available to you?  Maybe you could find a pediatrician who works in an academic setting (usually affiliated with a med school/university/large hospital) who is more likely to have seen a child with PWS or to have access to supervision/consultation with peers who might.

Good luck! I hope you are able to get the right person to help you on this journey!

[fnpmama]

Originally Posted by chiefmir 

I've only had two experiences with children who had PWS (both definately had it- both were diagnosed via genetic testing).  One was a child I met when he was 13- I didn't work with him often directly, but was doing my intership for graduate school at a site where he recieved mental health services.  The other is a child I know much more about-- she's now 7 years old, and is (I think) my 2nd cousin (a few times removed?) or something.  In both cases, the children had obvious hypotonia and feeding problems due to poor sucking.  These issues were obvious pretty much from birth on.  Neither met developmental milestones on time.  In paeticular, they had speech and OT issues related to their low muscle tone when they were young... each recived services through early intervention starting in infancy, as these delays were significant and obvious.  I don't know when the child I worked for was diagnosed definatively, but my cousin was diagnosed via genetic testing some time shortly after her 1st  birthday?... I don't know exactly.  I also know that, for both of them, the voracious eating issues didn't emerge then they were toddlers.  For the 1st kid, I believe he began to have behavior issues around eating towards the middle of preschool age (maybe 3-4?) and with my cousin, she is now 7 and still doesn't exhibit significant evidence of problems with eating.  This may be at least partly due to the fact that she had a diagnosis before she was really an "eater" so her mother has had strict control and rules about food pretty much from the beginning which may be helping the issue to some degree.

I definately would continue to push for a referral which would get you to see a geneticist or other dr who has some experience in these areas.  Is there a large children's hospital available to you?  Maybe you could find a pediatrician who works in an academic setting (usually affiliated with a med school/university/large hospital) who is more likely to have seen a child with PWS or to have access to supervision/consultation with peers who might.

Good luck! I hope you are able to get the right person to help you on this journey!

Thanks so much this is really helpful and reassuring.  It sounds like you work in healthcare as well.  I am in a very large urban area (CHicago) and we have 2 large University affiliated Children's hospitals.  I think I will go ahead and find a pediatrician at University of Chicago which is just a few blocks away and in network.

I am not sure if this is allowed on the forums, but can any one reccomend a pediatrician at University of Chicago?? If so, PM me.

[Emmeline II]

Originally Posted by fnpmama 

Originally Posted by Emmeline II 

You can read below the videos--HMOs and referrals

http://www.videojug.com/interview/hmos-and-referrals-2

After reading the above, I think I would type up a referral later and try to get him to sign it--your son is too young to be "greedy." You may also be able to request in PCP.

Diagnostic Criteria 

How to Appeal an HMO's Decision Regarding a Medical Procedure, Prescription, or Specialist Referral

But I am too much of a play by the rules person for that.  If the pediatrician doesn't think seeing a geneticist is medically necessary, I do not want to presure him to sign a letter that states that. He has to make the decisions he is most comfortable with as a provider, and he needs to stand by those decisions. 

Maybe we should see a new pediatrician (my plan has no restrictions on that) and see if a second set of eyes and possibly a better listener, might be more helpful.  Possibly, next time I won't let them call him "greedy". (That kinda hurt...)

If you can just see another Dr., I would do that. Doctors are wrong all the time, for many different reasons.
 

[half-pint]

Hi! I have a 4 year old son who happens to have  PWS.   Generally, most all babies with PWS  have trouble meeting at least a few milestones and most all have significant feeding issues and failure to thrive in the first year.  It is a spectrum disorder so not every child fits the "typical" mold of PWS but I really have not heard of a child with PWS that did not have at least one major delay (speech, fine,or gross motor) and/or the FTT phase (most have all of these issues)  The hyperphagia (inability to feel full and food seeking )  usually starts around 2-6 years, average around 3-4.     At 20 months, my son was in the 10th percentile for weight and height and spent his first year barely registering on a chart at all.  He crawled at 18 months and walked at 2.5.  His speech is very delayed.  After getting through the feeding issues, once he started solids he has never turned down food.  He likes everything and it seemed as though we could keep filling his plate (but of course did not try this).  In the last year or so his food seeking has increased considerably and we now have a door with a lock to the kitchen.  We do limit his food and he is on growth hormone.  These things have helped him stay at 50% or lower with weight.   Without growth hormone, most kids with PWS are of short stature and this is evident from toddlerhood, if not infancy.

One important fact is that in boys, something like 90%+  have one or more undecendend testes.

Has your child ever vomited?  This is rare in PWS, but can happen (if they do vomit it is not frequently)

Is your child blonde or pale even though the rest of the family is not (children with PWS and the deletion subtype are usually fair)

There are a few pws-like syndromes that are not confirmed with genetic testing but these are usually based on behavior and developmental delays.

I don't have any advice for getting a referral as I am in Canada.  If you like, you can pm me and send a picture of your child and I could give you my unprofessional opinion about his pws-like appearance.

Good luck and I hope you find an answer.

[fnpmama]

half-pint- Sent you a PM.  Thanks again for your perspective. 

Now that I have decided to take him to see a new pedi ( who comes recomended)  I need support with how to approach the subject at the visit.

Do you ladies think I should just come out and ask for the testing or referral?  Or should I ask for her opinion on the possibility of PWS?

Should I come prepared with the diagnostic criteria to discuss with her?  Sometimes, I worry that showing up with lists makes the doctors more likley to dismiss you as an over-worried parent that just needs a pat on the back.

I guess I should just put it out there that I am a nurse, and in my career I am used to doing what doctors tell me to do.  Some of the docs I have worked with in the past have been, uhh  how shall I say, frustrated when a parent wants to tell them what to do or demands referrals and testing they do not think are warranted.  Maybe I should not tell them I am a nurse, so I don't feel pressured to agree with them as a fellow health professional.  I think when it comes to my children's health I need to be a mother first, not a nurse - but for some reason I find that hardest to do in the doctors office. 

Okay, so most of this is about me.  I am just so easily bullied in the doctors office and since I know mama's in this forum spend a bit of time in doctor's offices, maybe you can help me figure out a way to express my concerns that accurately reflects their seriousness and is at the same time respectful of the professional advice I am seeking.