AimeeM Posted July 26, 2014 Share Posted July 26, 2014 If you haven't read my previous posts, to sum it up: my 5 year old son was born with congenital heart, lung, and vascular defects. He has always been incredibly small, weak, and slow to meet physical milestones. Cognitively he is well above average. He had surgery in 2010 to correct the vascular and lung defects, and at the last visit to his Cardio, the hole in his heart "was closing" (not closed, at last check, but actively closING). Even after his surgery, he has always presented as so small he isn't on the growth charts, and very "fragile". He currently sees his pulmonary team for check ups (clear right now), and is seeing an endocrinologist. The Endo recently (a few months ago) did a complete bone age and full body scan. He also did a very long list of blood work. Apparently everything on his end came back fine. He wants to monitor growth, and there is talk of growth hormone shots in the future, but he doesn't need to be seen by him again until October. Nico is currently around 30 lbs, and roughly the overall size of a 2.5 year old. According to the Endo, my son also presents with some abnormal physical features: an abnormally large head (over the 99th percentile, always, but scans show nothing abnormal), also that the head is "abnormally shaped", that his body also presents with abnormal features - short legs, long torso, short neck, etc. He spoke of wanting to refer him to genetics, but I guess we'll talk more about that in October, as no referral has been made. In the mean time, my son is still complaining of "hurting". His back, his legs, his arms. Mostly his back and legs. This evening we went to Target and he was hurting (sitting in the cart) in his leg again. He had tears in his eyes. This isn't a child who lies, or exaggerates. He complains that the sun hurts his eyes always when outdoors. He's tired frequently. He has dark circles under his eyes. I wondered about his levels, considering he's also a picky eater, but blood work looks great. Is there anything I can do for him? Any point in making an appointment with his pediatrician (who has been very helpful during all of this). Anybody else for him to see? I feel like we're already seeing the gambit of specialists for already diagnosed issues and general care (just upkeep with his pulmonary and endo for the growth issues; we have been discharged from the cardio's care as the hole was closing). Quote Link to comment Share on other sites More sharing options...
Luanne Posted July 26, 2014 Share Posted July 26, 2014 I think I would definitely make an appointment with his pediatrician. I wouldn't want to see him suffer if something can be done for him. Quote Link to comment Share on other sites More sharing options...
BlueTaelon Posted July 26, 2014 Share Posted July 26, 2014 I dont know what the current PC term is but could your son be a little person? Genetics would dx that. Quote Link to comment Share on other sites More sharing options...
AimeeM Posted July 26, 2014 Author Share Posted July 26, 2014 I dont know what the current PC term is but could your son be a little person? Genetics would dx that. No worries. He has been checked for dwarfism, to the best of my knowledge, a couple times. Quote Link to comment Share on other sites More sharing options...
AimeeM Posted July 26, 2014 Author Share Posted July 26, 2014 I think I would definitely make an appointment with his pediatrician. I wouldn't want to see him suffer if something can be done for him. Well, my concern is that there isn't anything she can do. I'm not sure there is anywhere else for her to refer him to. I have no problem taking him in, but she's seen him for this before. This is out of the scope of what a ped generally deals with - between this and his growth, she is the one who referred him out to Endo. Quote Link to comment Share on other sites More sharing options...
OneStepAtATime Posted July 26, 2014 Share Posted July 26, 2014 I agree, talk to your pediatrician. See what they recommend. And if necessary call back his other specialists and just ask. Poor guy. My heart goes out to him. We crossposted. Push this. Tell them all that he is hurting and you would very much like to see if there is anything to help his discomfort and pain. Be polite but firm. Don't let them brush you off. They probably don't have easy answers either but they have a greater knowledge base from which to make suggestions. Big hugs, Aimee Quote Link to comment Share on other sites More sharing options...
zoobie Posted July 26, 2014 Share Posted July 26, 2014 Dark circles--dairy allergy? Poor kiddo, and I can't imagine the mama's pain! :grouphug: Quote Link to comment Share on other sites More sharing options...
Jean in Newcastle Posted July 26, 2014 Share Posted July 26, 2014 Ask for the referral to genetics. Quote Link to comment Share on other sites More sharing options...
AimeeM Posted July 26, 2014 Author Share Posted July 26, 2014 Ask for the referral to genetics. I plan to put another call in for the referral on Monday. Unfortunately, referral or not (and I think they are the one specialist that we do need a referral to see), it will take months to get in. Quote Link to comment Share on other sites More sharing options...
Alessandra Posted July 26, 2014 Share Posted July 26, 2014 Oh, the poor boy. I would take him to see one of your doctors. How awful for him to be in such pain! My dc's pediatrician always tells me that I am doing a good job. I imagine you need to hear that too. Let us know how your ds is doing. Quote Link to comment Share on other sites More sharing options...
AimeeM Posted July 26, 2014 Author Share Posted July 26, 2014 Dark circles--dairy allergy? Poor kiddo, and I can't imagine the mama's pain! :grouphug: No dairy allergy. The only thing that occasionally pops up in blood work is an abnormal white blood cell count, but then when they re-do it, it's fine again. Quote Link to comment Share on other sites More sharing options...
Alessandra Posted July 26, 2014 Share Posted July 26, 2014 I plan to put another call in for the referral on Monday. Unfortunately, referral or not (and I think they are the one specialist that we do need a referral to see), it will take months to get in. I have had good luck calling doctors offices and asking what day they confirm appointments, fill in for cancellations. I call religiously on that day. And tell them that I will drop everything and rush in whenever there is an opening. I have shaved months off wait times this way. (Not because I am a pest, lol,, but because I can fill a hole in their schedules.) Quote Link to comment Share on other sites More sharing options...
AimeeM Posted July 26, 2014 Author Share Posted July 26, 2014 I have had good luck calling doctors offices and asking what day they confirm appointments, fill in for cancellations. I call religiously on that day. And tell them that I will drop everything and rush in whenever there is an opening. I have shaved months off wait times this way. (Not because I am a pest, lol,, but because I can fill a hole in their schedules.) Oh, that's a good idea. I didn't realize that some specialists confirm on one day (our ped's office calls the day before each scheduled appointment to confirm; it makes sense that specialists would confirm on one day. Thank you! Quote Link to comment Share on other sites More sharing options...
AimeeM Posted July 26, 2014 Author Share Posted July 26, 2014 I agree, talk to your pediatrician. See what they recommend. And if necessary call back his other specialists and just ask. Poor guy. My heart goes out to him. We crossposted. Push this. Tell them all that he is hurting and you would very much like to see if there is anything to help his discomfort and pain. Be polite but firm. Don't let them brush you off. They probably don't have easy answers either but they have a greater knowledge base from which to make suggestions. Big hugs, Aimee I think I'll call the Endo. I really believe that the pediatrician has done all that she can do. Quote Link to comment Share on other sites More sharing options...
Dory Posted July 26, 2014 Share Posted July 26, 2014 I have no advice to give beyond what these awesome ladies here have already given you, I just wanted to sent you a :grouphug: . It's stressful when your child is hurting and you don't know how to help them. I hope you get answers soon. Quote Link to comment Share on other sites More sharing options...
Corraleno Posted July 26, 2014 Share Posted July 26, 2014 Has he ever seen a pediatric rheumatologist? They treat many other autoimmune diseases, in addition to arthritis, which have symptoms that include growth problems, poor appetite, fatigue, joint/muscle/bone pain, elevated white cell counts, heart & lung problems, and sensitivity to light. Many of those also have genetic components that can be tested for, so even if you are seeing a geneticist anyway, a rheumatologist might be able to narrow the focus of what you're looking for. It was actually a pediatric rheumatologist who diagnosed DS's Lyme disease, when no one else thought to test for it in the previous 2 years that DS was having issues. Quote Link to comment Share on other sites More sharing options...
Whereneverever Posted July 26, 2014 Share Posted July 26, 2014 I would definitely want a referral to genetics, and I'll second calling a bout filling cancellations. I've done that before when we really need to get in fast. Quote Link to comment Share on other sites More sharing options...
mysticmomma Posted July 26, 2014 Share Posted July 26, 2014 How about some magnesium oil? Quote Link to comment Share on other sites More sharing options...
Unicorn. Posted July 26, 2014 Share Posted July 26, 2014 I agree with Corraleno- I was thinking autoimmune disorder. Can you put him on a gluten free diet- it might take a few months to notice anything, but it is recommended for most auto immune disorders. Bags under the eyes are a sign of allergies. He could still have a dairy allergy, too, even if he's tested negative. Poor little guy- I hope he gets some relief soon. Quote Link to comment Share on other sites More sharing options...
Tap Posted July 26, 2014 Share Posted July 26, 2014 A couple of thoughts...growing pains. Or maybe muscle pains due to his small structure trying to support a full size head. Maybe a PT or OT evaluation? Quote Link to comment Share on other sites More sharing options...
mathnerd Posted July 26, 2014 Share Posted July 26, 2014 A couple of thoughts...growing pains. Or maybe muscle pains due to his small structure trying to support a full size head. Maybe a PT or OT evaluation? These are my thoughts, exactly. Please see your pediatrician even if you think that she cannot do anything else for him - if it is muscular pain due to the above reasons, she can send you to a PT or OT. But, please do not assume that the pediatrician cannot do anything else for him - he is in pain and it is the doctor's job to evaluate it and let you know how to help him. Good luck. Quote Link to comment Share on other sites More sharing options...
kiwik Posted July 26, 2014 Share Posted July 26, 2014 Agree with PP. Check you are on the waiting list for genetics then do everything you can to jump the queue. If he is a picky eater be careful about dietary limitations. Ds7 has bad growing pains and can get very pale and have dark circles when unwell. He used to get much worse before I took him off gluten but it was bowel issues that made me do it. As far as we can tell he has IBS. The reaction to light is ringing a bell but I can't remember which onen Quote Link to comment Share on other sites More sharing options...
mom2samlibby Posted July 26, 2014 Share Posted July 26, 2014 I'd have him checked for a Vitamin B12 deficiency. http://www.ncbi.nlm.nih.gov/pubmed/24596481 He's has several signs that point to that. There is a book called Could It Be B12 that has a whole chapter on Vitamin B12 deficiencies in children. Quote Link to comment Share on other sites More sharing options...
Pippen Posted July 26, 2014 Share Posted July 26, 2014 Some good ideas listed already. I'd definitely pursue the geneticist, as well as OT/PT evaluations. There have been times when my kids had aches and pains that have been fixed with new pillows or mattresses. In fact my husband's grandma spent several days in a hospital for back pain that turned out to be from sleeping on an old mattress. We're replacing my daughter's mattress now because she discovered her TMJ-like symptoms disappear when she sleeps on the sofa. You might want to consider taking him to a reputable chiropractor while waiting for other appointments to see if that might give him some relief from the pain. Quote Link to comment Share on other sites More sharing options...
AimeeM Posted July 26, 2014 Author Share Posted July 26, 2014 All vitamin levels came back fine (which surprised me; given what a picky eater he is, I expected a deficiency somewhere). He has not seen a rheumatologist, but I am pretty sure that autoimmune everything is something the endo ran tests for, considering my family history (heavy in the Lupus and RA department). I can definitely ask his ped to make an appointment with a Rheum if y'all think that he could run tests that the endo couldn't/didn't. Quote Link to comment Share on other sites More sharing options...
mom2samlibby Posted July 26, 2014 Share Posted July 26, 2014 All vitamin levels came back fine (which surprised me; given what a picky eater he is, I expected a deficiency somewhere). He has not seen a rheumatologist, but I am pretty sure that autoimmune everything is something the endo ran tests for, considering my family history (heavy in the Lupus and RA department). I can definitely ask his ped to make an appointment with a Rheum if y'all think that he could run tests that the endo couldn't/didn't. Have the specifically tested his Vit. B12 level and is folate and ferritin levels? Those are all tied together. Most doctors don't test for them. I just had lab work done for me on Vit. B12 because I have had several health issues that indicate I'm deficient. My lab work came back with 3 items flagged, yet the doctor told me I was just fine. My Vit B12 level was extremely high, higher than it's supposed to be. Doctor said that was fine too, but in reality it means my body is not utilizing B12, so it's saying in my blood. I'd specifically ask for those to be tested and get copies of the lab work. Many doctors aren't familiar with the issues that Vit. B12 deficiencies can cause or how to treat them. Sad. :( Here's another link to check out. http://b12deficiency.info/children-and-b12/ Quote Link to comment Share on other sites More sharing options...
Ottakee Posted July 26, 2014 Share Posted July 26, 2014 Might be way off but we see a neurologist for mitochondrial issues and those can have a lot of weird and varied symptoms that dont' all seem to be tied together but really are. I am assuming he has seen a peds opthamologist to check his vision, perception, etc. I know how hard all of this can be. Until we got our diagnosis of 3 different mitochondrial myopathies (only known case in the world with the combo dd has) her main diagnosis was "hmmmmmmmmmm, interesting". I agree with the cancellation list idea and calling frequently. I too have shaved months off our wait time by willing to be there within an hour if needed. Quote Link to comment Share on other sites More sharing options...
AimeeM Posted July 26, 2014 Author Share Posted July 26, 2014 He was cleared by a neuro initially. The very first thing every doctor says when they see him is "has he seen a neurologist", lol - his head is very, very large, and oddly shaped. It's to the point where we automatically, before any specialist says anything, say "yes, he's had head scans" :P I'm not sure how we would go about getting another referral since he's been cleared there, but I can ask. He has NOT seen an opthamologist. The light sensitivity is only within the past year or so. I'll go ahead and make an appointment there (no need for a referral, but there are only two here, who will see children under 6 or 7, so I need him on the list now). Might be way off but we see a neurologist for mitochondrial issues and those can have a lot of weird and varied symptoms that dont' all seem to be tied together but really are. I am assuming he has seen a peds opthamologist to check his vision, perception, etc. I know how hard all of this can be. Until we got our diagnosis of 3 different mitochondrial myopathies (only known case in the world with the combo dd has) her main diagnosis was "hmmmmmmmmmm, interesting". I agree with the cancellation list idea and calling frequently. I too have shaved months off our wait time by willing to be there within an hour if needed. Quote Link to comment Share on other sites More sharing options...
AimeeM Posted July 26, 2014 Author Share Posted July 26, 2014 Yes, I'm pretty sure the Endo did run those tests. One reason that the pedi sent us to him is because he (the Endo) can run tests, and knows which tests to run, that she didn't feel confident she could run for. Since it seem so difficult to get into the Endo, I think my next course of action will be to call his ped. She was helpful when I was having a hard time getting his test results from the Endo's office (to be fair, he is the only pediatric endo in town, so his office is crazy busy). The pedi, as Nico's primary, was able to pull his lab and scan results right there in the room with us. I can ask her to take a close look at them. Have the specifically tested his Vit. B12 level and is folate and ferritin levels? Those are all tied together. Most doctors don't test for them. I just had lab work done for me on Vit. B12 because I have had several health issues that indicate I'm deficient. My lab work came back with 3 items flagged, yet the doctor told me I was just fine. My Vit B12 level was extremely high, higher than it's supposed to be. Doctor said that was fine too, but in reality it means my body is not utilizing B12, so it's saying in my blood. I'd specifically ask for those to be tested and get copies of the lab work. Many doctors aren't familiar with the issues that Vit. B12 deficiencies can cause or how to treat them. Sad. :( Here's another link to check out. http://b12deficiency.info/children-and-b12/ Quote Link to comment Share on other sites More sharing options...
mysticmomma Posted July 26, 2014 Share Posted July 26, 2014 Normal levels might still not be optimal for him. Quote Link to comment Share on other sites More sharing options...
Jean in Newcastle Posted July 26, 2014 Share Posted July 26, 2014 It's usually easier to get into a specialist once you've been seen by them because then you qualify as an established patient. That's one reason our ped. told us to get our dd into the geneticist even though we really don't need their expertise right now. He said it's better to "waste" a visit asking general questions about things you know than to try and get in if things take a weird turn and you need to get in right away. Quote Link to comment Share on other sites More sharing options...
Ottakee Posted July 26, 2014 Share Posted July 26, 2014 He was cleared by a neuro initially. The very first thing every doctor says when they see him is "has he seen a neurologist", lol - his head is very, very large, and oddly shaped. It's to the point where we automatically, before any specialist says anything, say "yes, he's had head scans" :p I'm not sure how we would go about getting another referral since he's been cleared there, but I can ask. He has NOT seen an opthamologist. The light sensitivity is only within the past year or so. I'll go ahead and make an appointment there (no need for a referral, but there are only two here, who will see children under 6 or 7, so I need him on the list now). One of mine was "cleared" by neuro as a baby but then when she was a bit older we went back and more issues were evident. I would try for that esp. if he hasn't seen one in over a year. Could the pain and light sensitivity be some form of migraines? When you see the neuro ask about mitochondrial issues. The field is exploding with new knowledge and things have changed dramatically in 5 years. Our neuro also orderd a bunch of the genetic stuff along with the mito stuff. Hopefully they are in the same "system" so they can look up what tests have been run and what the results were, etc. How long ago where the head scans? If more than 1-2 years old they might be worth repeating depending on what the doctors see/think. Hard to know when everyone agrees there are real issues here but they can't figure out the what and why of them. Quote Link to comment Share on other sites More sharing options...
Whereneverever Posted July 26, 2014 Share Posted July 26, 2014 Has he seen a craniofacial specialist? With the head thing warranting that much commentary, plus headaches and light sensitivity, I'd want to see one. Quote Link to comment Share on other sites More sharing options...
Catherine Posted July 26, 2014 Share Posted July 26, 2014 I have one thought: check his temperature. People with any kind of heart malformation are at higher risk of infection of the valves. The symptoms are often vague: weird pain, weakness, fatigue, but one more specific sign is a low grade, or even high, fever. Does he complain (recently) of feeling cold? Quote Link to comment Share on other sites More sharing options...
tabinfl Posted July 26, 2014 Share Posted July 26, 2014 Even if his specific issues are outside the pediatrician's realm, a generalist can still be helpful in keeping tabs on the big picture. Often the specialists are very narrowly focused; the ped might be able to see things that overlap specialties. Quote Link to comment Share on other sites More sharing options...
AimeeM Posted July 26, 2014 Author Share Posted July 26, 2014 The head scans were about a 2.5 years ago. After his surgery, I know that (his pulmonary is the one who sent us, if I remember correctly). The endo is concerned that all of his issues (including the congenital birth defects) are part of a bigger picture issue (which is why he mentioned genetics), and he feels that each specialist has just been treating/looking in his/her respective "corner" instead of considering that everything is connected. It is frustrating. My husband is pretty anti-anymore specialists, to be honest. I'm with him - Nico has been through too much already, but there is also no denying that he is hardly living a "full" life right now either. Part of is honestly just his personality (he's much more the intellectual type, and does genuinely simply prefer to be inside with his books and blocks), but I would like for him to have the option, physically, to pursue things as he gets older, if he wants. Right now I do not think he could keep up, energy wise, even if he WANTED to. We constantly have to steer clear of large indoor play places, or anywhere we know is having any type of virus (church, co-op, etc) because when Nico gets sick, it's x10 compared to us and the other children. I could simply be overreacting. Nico could simply be what my grandmother refers to as "frail", and there's nothing wrong with that, in the grand scheme of things. I worry, though - a lot. One of mine was "cleared" by neuro as a baby but then when she was a bit older we went back and more issues were evident. I would try for that esp. if he hasn't seen one in over a year. Could the pain and light sensitivity be some form of migraines? When you see the neuro ask about mitochondrial issues. The field is exploding with new knowledge and things have changed dramatically in 5 years. Our neuro also orderd a bunch of the genetic stuff along with the mito stuff. Hopefully they are in the same "system" so they can look up what tests have been run and what the results were, etc. How long ago where the head scans? If more than 1-2 years old they might be worth repeating depending on what the doctors see/think. Hard to know when everyone agrees there are real issues here but they can't figure out the what and why of them. Quote Link to comment Share on other sites More sharing options...
AimeeM Posted July 26, 2014 Author Share Posted July 26, 2014 Has he seen a craniofacial specialist? With the head thing warranting that much commentary, plus headaches and light sensitivity, I'd want to see one. I didn't even realize there was such a thing as a craniofacial specialist. Quote Link to comment Share on other sites More sharing options...
AimeeM Posted July 26, 2014 Author Share Posted July 26, 2014 I have one thought: check his temperature. People with any kind of heart malformation are at higher risk of infection of the valves. The symptoms are often vague: weird pain, weakness, fatigue, but one more specific sign is a low grade, or even high, fever. Does he complain (recently) of feeling cold? Yes, he's pretty consistently cold. Except when he feels "hot" (to him). I can check his temp. I could go back to his cardio, just for a "check up". Although he was discharged from his care, the hole wasn't completely closed at his last visit (it was actively closing, but not closed). The vascular deformities were, if I remember correctly, more serious (or, rather, more difficult) than the lung or heart malformations. The vascular problems he presented with were out of the scope of our local surgeons, initially, and there was talk of sending him out of state, but they decided the travel wasn't worth it for him, and they did it here. They had never seen his presentation before, and knowing as much, they still aren't sure if there are going to be any long term problems directly related to the type of redirection and cuts they had to make in that area. The hole, if I remember correctly (please forgive me - it's been a long time since cardiac care for Nico), was not directly in his heart... a PFO... something about the valve... they said it wasn't a big deal. I do think I'll call his cardio. Quote Link to comment Share on other sites More sharing options...
AimeeM Posted July 26, 2014 Author Share Posted July 26, 2014 Even if his specific issues are outside the pediatrician's realm, a generalist can still be helpful in keeping tabs on the big picture. Often the soecialists are very narrowly focused; the ped might be able to see things that overlap specialties. His ped is fabulous about keeping tabs. She kind of yelled at me at his last visit. Apparently the Endo's office didn't ping her that we'd been, but they were supposed to, so she thought we hadn't been. When she found out we HAD been, she immediately starting accessing the main outpatient file for Nico, so that she could look at his scans and blood work. His Endo, too, seems really great about looking at the big picture. He is the one who suggested that his problems may be related, and that we needed to not be "narrowly focused" on each problem -vs- looking at the overall. Quote Link to comment Share on other sites More sharing options...
J-rap Posted July 26, 2014 Share Posted July 26, 2014 I don't know where you live, but have you considered taking him to a hospital like Mayo Clinic (in Minnesota)? I believe they have opened other clinics now as well, in Arizona and Florida. I can't speak highly enough of it. It is an amazing, extremely organized system. All of the doctors work together, and you don't keep going back and forth (at least that's their goal); they try and do everything over the span of your visit. They'll get you in with one doctor, who will then arrange other specialty appointments and tests. They are considered some of the best in the world, and specialize in diagnosing and treating mysterious conditions. They also have every specialist there imaginable. I don't know if this is something your insurance covers, but it may be worth it to check. If you have any questions about Mayo, you can PM me. I have several relatives who work there. Quote Link to comment Share on other sites More sharing options...
bzymom Posted July 26, 2014 Share Posted July 26, 2014 I have no suggestions, and it seems you have received great advice from many, but wanted to add :grouphug: :grouphug: for you and your little one. Quote Link to comment Share on other sites More sharing options...
Ewe Mama Posted July 26, 2014 Share Posted July 26, 2014 First off, :grouphug: Next, I would start with his ped. She knows him and she will see immediately how "off" he is from his regular visits. Perhaps she can do some of the legwork and pushing that needs to be done with the right doctors and tests. Plus, it sounds like she might get PO'd with you if you don't keep her in the loop! :D Quote Link to comment Share on other sites More sharing options...
Katy Posted July 26, 2014 Share Posted July 26, 2014 Has he been cleared for progeria and werner syndrome? Quote Link to comment Share on other sites More sharing options...
Slartibartfast Posted July 26, 2014 Share Posted July 26, 2014 Has your ds been checked for Noonans Syndrome? My ds has Noonans, Noonans is relatively common and you have already listed several symptoms in this thread. They use a different growth chart for kids with Noonans. One of the symptoms of Noonans is unexplained muscle pain. I give ds hot baths and I massage his legs when it is bothering him. I would ask the cardiologist what they think, genetics would confirm but a cardiologist would be familiar with it. Quote Link to comment Share on other sites More sharing options...
AimeeM Posted July 26, 2014 Author Share Posted July 26, 2014 Has your ds been checked for Noonans Syndrome? My ds has Noonans, Noonans is relatively common and you have already listed several symptoms in this thread. They use a different growth chart for kids with Noonans. One of the symptoms of Noonans is unexplained muscle pain. I give ds hot baths and I massage his legs when it is bothering him. I would ask the cardiologist what they think, genetics would confirm but a cardiologist would be familiar with it. Noonans is something that his Endo mentioned. He wanted to clear him of other growth issues, and then said he would refer to genetics. There were a couple of things that he was confused about, as while it does seem Nico presents with most of what Noonan's presents with, there are a couple of "biggies" that he DOESN'T present with. With that said, my husband is pretty resistant to it. Honestly, I think that's because the doctor mentioned that since Nico has exactly my husband's body type, it's possible that if Nico has it, so does my husband (just mild enough that it was never dx'd). I have no clue why, when nothing was found in the endo's work, the referral to genetics was wasn't made. Worst case scenario - I can ask the pedi to make the referral. Quote Link to comment Share on other sites More sharing options...
AimeeM Posted July 26, 2014 Author Share Posted July 26, 2014 Has he been cleared for progeria and werner syndrome? He hasn't been checked for anything that is genetics related (are those?). Quote Link to comment Share on other sites More sharing options...
AimeeM Posted July 26, 2014 Author Share Posted July 26, 2014 First off, :grouphug: Next, I would start with his ped. She knows him and she will see immediately how "off" he is from his regular visits. Perhaps she can do some of the legwork and pushing that needs to be done with the right doctors and tests. Plus, it sounds like she might get PO'd with you if you don't keep her in the loop! :D She's a good woman to have po'd - so long as she isn't po'd at me, lol. Quote Link to comment Share on other sites More sharing options...
Slartibartfast Posted July 26, 2014 Share Posted July 26, 2014 Noonans is something that his Endo mentioned. He wanted to clear him of other growth issues, and then said he would refer to genetics. There were a couple of things that he was confused about, as while it does seem Nico presents with most of what Noonan's presents with, there are a couple of "biggies" that he DOESN'T present with. With that said, my husband is pretty resistant to it. Honestly, I think that's because the doctor mentioned that since Nico has exactly my husband's body type, it's possible that if Nico has it, so does my husband (just mild enough that it was never dx'd). I have no clue why, when nothing was found in the endo's work, the referral to genetics was wasn't made. Worst case scenario - I can ask the pedi to make the referral. There is a variety of presentations. There are several different genes associated with the condition and there can be large differences between them. Ds' is pretty mild and he doesn't have the learning disabilities that are pretty common with Noonans. A lot of the kids take growth hormones. My own ds is six and weighs 37 lbs. He still wears some 3t pants. I wouldn't take missing biggies as an indication that he doesn't have it. It isn't unlikely that one of you have it, it is autosomal dominant. It can be either mutated in the individual or one of the parents has it, there are no carriers. Quote Link to comment Share on other sites More sharing options...
AimeeM Posted July 27, 2014 Author Share Posted July 27, 2014 There is a variety of presentations. There are several different genes associated with the condition and there can be large differences between them. Ds' is pretty mild and he doesn't have the learning disabilities that are pretty common with Noonans. A lot of the kids take growth hormones. My own ds is six and weighs 37 lbs. He still wears some 3t pants. I wouldn't take missing biggies as an indication that he doesn't have it. It isn't unlikely that one of you have it, it is autosomal dominant. It can be either mutated in the individual or one of the parents has it, there are no carriers. 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. Quote Link to comment Share on other sites More sharing options...
unsinkable Posted July 27, 2014 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? Quote Link to comment Share on other sites More sharing options...
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