Slartibartfast Posted July 27, 2014 Share Posted July 27, 2014 Yeah - he's about 30 lbs at age 5. I can't see any learning disabilities at the moment - he is pretty academically advanced, if anything, but I do know that the Endo was concerned that if it is Noonan's, it wouldn't necessarily be dx'd as "mild" because of the heart/lung/vascular defects (which I guess can also come along with Noonan's). Nothing big, he said, just that he may require a bit more monitoring. My ds was born with pulmonary stenosis, 3 VSDs, and a narrowing of the pulmonary artery, he also a bleeding disorder. "Mild" is relative I guess. Quote Link to comment Share on other sites More sharing options...
AimeeM Posted July 27, 2014 Author Share Posted July 27, 2014 My ds was born with pulmonary stenosis, 3 VSDs, and a narrowing of the pulmonary artery, he also a bleeding disorder. "Mild" is relative I guess. The endo didn't know a ton about it, to be fair, lol. After looking at some sites, I have to agree with you that if my DS does have Noonan's, his is certainly mild. Quote Link to comment Share on other sites More sharing options...
AimeeM Posted July 27, 2014 Author Share Posted July 27, 2014 Can't you give him some pain reliever for his muscle aches while you're working this out with his docs? If I can get him to take it. Quote Link to comment Share on other sites More sharing options...
AimeeM Posted July 27, 2014 Author Share Posted July 27, 2014 My ds was born with pulmonary stenosis, 3 VSDs, and a narrowing of the pulmonary artery, he also a bleeding disorder. "Mild" is relative I guess. Does your son have dental problems? Quote Link to comment Share on other sites More sharing options...
Slartibartfast Posted July 27, 2014 Share Posted July 27, 2014 Does your son have dental problems? Yep. His teeth are terrible. He had dental surgery when he was two!! A lot of kids don't even see a dentist by that age. I would estimate his teeth have cost us about $5,000 even with regular brushing. He is only six! AAAH! Quote Link to comment Share on other sites More sharing options...
AimeeM Posted July 27, 2014 Author Share Posted July 27, 2014 Yep. His teeth are terrible. He had dental surgery when he was two!! A lot of kids don't even see a dentist by that age. I would estimate his teeth have cost us about $5,000 even with regular brushing. He is only six! AAAH! I feel you. Nico went in before his main DX, and his teeth were "perfect" - he was one; by the time he was two, he had six cavities. Now, at five, we just put down $1500 for two more procedures - total was actually over 3K for this one, but we have fantastic dental insurance, which covered 90% of almost everything, but NONE of the sedation, and minimal for the partial that is being cemented in, so our portion is $1500. Fun times. Sorry y'all are dealing the dental fun too :( Quote Link to comment Share on other sites More sharing options...
Slartibartfast Posted July 27, 2014 Share Posted July 27, 2014 I feel you. Nico went in before his main DX, and his teeth were "perfect" - he was one; by the time he was two, he had six cavities. Now, at five, we just put down $1500 for two more procedures - total was actually over 3K for this one, but we have fantastic dental insurance, which covered 90% of almost everything, but NONE of the sedation, and minimal for the partial that is being cemented in, so our portion is $1500. Fun times. Sorry y'all are dealing the dental fun too :( Oh I hear ya, the sedation is ONLY $475 sure no problem! Then they want to do things in two procedures instead of one. :glare: :( Quote Link to comment Share on other sites More sharing options...
AimeeM Posted July 27, 2014 Author Share Posted July 27, 2014 Oh I hear ya, the sedation is ONLY $475 sure no problem! Then they want to do things in two procedures instead of one. :glare: :( I know! Lol. He has to have two procedures. The hygenist even told me that it would take longer for the sedation to work, than the procedure takes! And two types of sedation? Oral sedative AND laughing gas? Quote Link to comment Share on other sites More sharing options...
Whereneverever Posted July 27, 2014 Share Posted July 27, 2014 Are you dealing with a big children's hospital? Or lots of different offices? Quote Link to comment Share on other sites More sharing options...
IfIOnly Posted July 27, 2014 Share Posted July 27, 2014 Light sensitivity can be a low cortisol symptom. I agree that his dark circles are most likely allergy "shiners". Maybe a cal/mag supplement for the muscle cramps? ((((hugs)))) Quote Link to comment Share on other sites More sharing options...
JudoMom Posted July 27, 2014 Share Posted July 27, 2014 My middle son was diagnosed with Juvenile Rheumatoid Arthritis at age 4, after going from one specialist & appointment to another. Starting at age two, he would hold his knees and cry because of the pain. His other pain points are his ankles & back. He was also lethargic, pale, had dark circles, and had what we called "sad eyes". Just not much joy in them, which is understandable with chronic pain. It was rare that he had joint swelling, and his lab work is also always inconclusive--but I think that's genetic because I have an autoimmune liver disease and my autoimmune markers don't present "correctly" with the lab work. All this to say, take him to the doctor. I know what it's like to feel like you're chasing your tail, but it's not "normal" for a kid to complain of pain consistently. If it is an autoimmune thing, there are meds that can help. :grouphug: :grouphug: :grouphug: Quote Link to comment Share on other sites More sharing options...
AimeeM Posted July 27, 2014 Author Share Posted July 27, 2014 Are you dealing with a big children's hospital? Or lots of different offices? Both, kind of. We have a pretty large, great children's hospital here, and all of the specialists are housed on campus at the children's outpatient building. His cardio, pulmonary, endocrinologist, etc are all housed together there, and all are with the children's hospital. ETA: "Large" is relative, I suppose. I live in a smallish city, and there tends to only be one or two specialists per speciality field. His pulmonary is one of only two peds pulms, the peds endo is the only, the peds cardio is, I think, one of two, etc. Worst case scenario is that my mother does live near Emory, and I could probably get him in there, if need be. Quote Link to comment Share on other sites More sharing options...
wonderchica Posted July 27, 2014 Share Posted July 27, 2014 Not to beat a dead horse, but it really sounds like something genetic to me. Nothing I can pinpoint off the top of my head, but the variety of symptoms and atypical features such as the large head really scream genetic to me. I hope you will be able to get some answers from them! Even if you don't, as I'm sure they'll tell you, genetics is a constantly expanding field. The technology and knowledge is moving so quickly, even if they can't identify something now, if you go back in a few years the tests and knowledge may have evolved to the point you can get a diagnosis. Quote Link to comment Share on other sites More sharing options...
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