Signs In Children?

[Friedbrain]

Not sure what to do about my concern, so am asking for as much advice and/or opinions as you have. I have a host of health problems (adrenal insufficiency/AI, autoimmune and dysautonomia among them); however, all but Hashimoto's hypothyroidism showed up in my 30s+. I have a 12yo son I'm wondering about......

My main concern right now is his abnormally large pupils. For the longest time, I kept thinking "what beautiful eyes he has" because they were so stunningly different (all that stuff about the interpretation of large pupils is true!). It was only recently that it dawned on me that it was because his pupils are so large, and that they probably shouldn't be. Then I started comparing his with other family members and, sure enough, they were abnormal. Standing under light, if I cover his eyes and then uncover them, the pupils immediately constrict and then expand right back to large (at least they do it in tandem-whew).

I don't know where to go with this concern. I called the family doctor and asked if I should bring him in for a general or take him to an opthalmologist-they said opthalmologist. Ok, scheduled but then I started second guessing. I would think it's a systemic problem, so maybe endo or neuro (whom I see; maybe it's dysautonomia or AI?) I hate wasting time on a wild goose chase, so I decided to search for advice....

Other problems he has....possible Ehlers Danlos (which I first learned about from here! My sister probably has it, too); constipation on and off; headaches (that I kept thinking were stress/school related but now am wondering....large pupils can cause that, too); I asked him about being tired, and he said yes, after he gets to school and in the early afternoon (but is that just typical complaining or real? I was diagnosed with hypothyroidism around 15yo but the fatigue was decimating, and hit around 10am); he's had bouts of tachycardia (fully checked out by a cardiologist first time; nothing physically wrong with his heart, so accompanying chest pains were attributed to chest joint inflammation).

I know these symptoms don't sound like a perfect dysautonomia match, so I'm wondering what early-stage dysautonomia looks like in kids. He's getting bloodwork done next week, but it's just the general stuff. I'm wondering if I should ask for anything extra, like cortisol (one sign of AI is enlarged pupils); or if I should schedule him to see a different speicalist.

Thanks for any and all thoughts!

[MomtoGiuliana]

I think if the symptoms are bothersome enough, or of concern to you, he could be evaluated by a specialist. EDS can be diagnosed also by a specialist. There isn't a blood test or simple test as you probably know, you would need to see a geneticist with expertise in connective tissue disorders, from what I understand. I have considered going to Fracomano in Baltimore (nearby for me) with my child, just to rule it out for both of us. My 10 yr old has not shown any signs of dysautonomia, so far, but I am also concerned b/c I have a sister who also has POTS.

[Friedbrain]

Thanks. I did take him to a geneticist because I was concerned. He has a bunch of anomalies that match up with EDS (the bones in his feet are abnormal, his eyeball is misshapen, etc...things that can be caused developmentally by EDS, on top of the hyperflexibility), but the genetic tests did not confirm......so possible but no confirmation. However, he has easy bruising that the pediatrician thinks may "just" be from the EDS, too. And this unusual chest joint inflammation....she thinks may be from EDS, with loose joints getting irritated and then inflammed. Since my sister has health issues related to her loose joints, like the arm falling out of the socket, etc...I feel like it's something I should keep in mind with him for the longterm but nothing that I can have confirmed at this point.

The pupils.....modulated by the autonomic nervous system....wondering what's causing this.

[MomtoGiuliana]

Maybe another member with experience with EDS and pupil abnormalities can answer from their experience.

It does seem that some of us w POTS have abnormally large pupils. I do too. That alone may not be evidence enough to diagnose w dysautonomia, but b/c of the fact that EDS is possible for him, if there is a neuro or other specialist in your area perhaps he could be evaluated by them rather than an eye doctor who may not be familiar with dysautonomia. I have had large pupils all my life and this was never even commented on by any eye doctor or optometrist I ever saw--and I started needing glasses at age 11. I definitely understand what you mean by wild goose chases. With your family history too it makes sense, in my opinion, to go the path of evaluating for dysautonomia rather than an unrelated eye problem as a first step--unless he is having vision problems of course,

[looneymom]

My son is 12 and does have POTS. His was a classic textbook case. It started with a virus and went down hill from then on. It sounds like your child has some of the symptoms and needs to be evaluated. My son was evaluated by MAYO but there are other places that also do this evaluation such as Vanderbelt and Cleveland Clinic.