Friend's 12 year old son is dying. Doctors can't figure it out. Calling Dr. House! (or FBG doctors) Edited for update on 10-28-19 (1 Viewer)

[Hagger]

Props to you for helping out as a friend.  A few random thoughts in case any of them are helpful:

Getting him to the best hospital possible, wherever that is, sounds like the best first move.

Reddit is a great idea - the breadth of audience there is amazing.  There's almost certainly already some subreddits that deal with helping diagnose unusual symptoms.

Not trying to find a match for the symptoms necessarily, try googling weird diseases and how they were diagnosed... every now and then I'll read a story about someone that had strange symptoms and it took them a long time to finally get it diagnosed.  Maybe reading one of those cases will give some more ideas on a way to get help, or provide something unexpected to consider.

Maybe try to find a Hawaiian doctor/resource to help out?... they might be more familiar with something local that causes some of those symptoms.  Maybe focussing on a few of the symptoms will help lead to an answer if the son turns out to have an unusual combo of symptoms that are complicating being able to zero in on the primary symptom(s).

Ask the family write down everything they remember doing while they were in Hawaii, maybe that will help jog their memory (or give a doctor a clue) of something they did which could provide an area of focus.  E.g. did he go swimming in a pond?... walking in an area where there might have been insecticides, pesticides, mushroom spores, ???

If you can, please keep this updated when there's news, I really feel for the kid and his family.

Obviously, this is going to be an on-going process for my friend and his family.  Everything that everyone has said here I've taken to heart, and I've passed along the suggestions for the hospitals that have been mentioned here.  As for myself, I've found nothing that really has been able to help the situation.  Like my friend, I feel a bit helpless.  I appreciate those of you who gave me valuable feedback.  Eventually I will come back and update this thread when there's something noteworthy.  Thanks, all.

 

[brun]

Wishing for the best for the kid.

Just curious. Have they tested his cerebrospinal fluid to eliminate a parasitic meningitis?

 

[jabarony]

Try returning the Tiki idol to an ancient burial site.

Lol.

Sorry.

 

[dickey moe]

Was thinking Lyme, but I would assume they have tested for it multiple times at this point.  Or some kind of autoimmune issue, or something viral that went after his central nervous system.  Ugly.  I sympathize - having a problem that they can't diagnose is maddening.  I my case a family member had "atypical shingles" - basically shingles without the rash.  Never seen someone in so much apparently warrantless pain.

If there is a connection between the boy's illness and his trip to Hawaii then I doubt the source is Lyme disease. The tick that transmits Lyme disease isn't found in Hawaii.

 

[Terminalxylem]

Not sure if this is still ongoing, but two thoughts come to mind: heavy metal poisoning (somebody mentioned already selenium, but there are many others - lead, mercury and arsenic are the classic ones) and porphyria. It’s highly unlikely to be infectious, and definitely not Lyme or any tropical infection from Hawaii.

Some of the symptoms also sound like ciguatera food poisoning, but the duration is waaaaaay too long.

 

[AAABatteries]

@Hagger - update?

 

[bucksoh]

Does the kid have hard, leathery skin?

 

[Penguin]

As far as some sort of poison or toxin, I'd think it would require continued exposure. I can't imagine where it was a one time thing (Hawaii) and for to have been so potent that he is still sick and deteriorating a year later that he wouldn't have died shortly after the initial exposure, but I'm not an MD.

 

[Terminalxylem]

As far as some sort of poison or toxin, I'd think it would require continued exposure. I can't imagine where it was a one time thing (Hawaii) and for to have been so potent that he is still sick and deteriorating a year later that he wouldn't have died shortly after the initial exposure, but I'm not an MD.

Sure. I think the Hawaii trip is a red herring. Although his symptoms' onset coincide with the incubation of many tropical illnesses, infection is unlikely for some of the same reasons.

Abdominal pain, allodynia (altered pain sensation), seizures and changes involving all of his nails are the key symptoms. Chronic heavy metal ingestion can lead to all those, but he'd need an ongoing exposure. 

I also wonder about inherited metabolic diseases, like glycogen/lysosomal storage diseases, especially Fabry's, but most of those present much earlier or in early adulthood. Plus his spleen would likely be enlarged, which would have showed up on the abdominal scans. And the poster who mentioned Munchausen's by proxy has a valid point, though that is a diagnosis of exclusion. 

The specialist to see is a pediatric neurologist +/- dermatologist.

 

[Doug B]

@Hagger - update?

I don't know if he lurks, or is here under another user name -- but the user name Hagger hasn't posted or reacted to anything on FBG since Sept 3, 2017 per his profile.

 

[Apple Jack]

Not sure if this is still ongoing, but two thoughts come to mind: heavy metal poisoning (somebody mentioned already selenium, but there are many others - lead, mercury and arsenic are the classic ones) and porphyria. It’s highly unlikely to be infectious, and definitely not Lyme or any tropical infection from Hawaii.

Some of the symptoms also sound like ciguatera food poisoning, but the duration is waaaaaay too long.

A friend of the family just died after getting poised from metal in an artificial hip get in her blood and there was nothing that could be done about it.

Anything nobody can figure out, get to NIH or Mayo immediately. Sell whatever necessary to get there. If you can't get in either, Cleveland or Johns Hopkins. Do not #### around with doctors who are not getting anywhere.

ETA: Mayo now has affiliates in places other than MN, Scottsdale and Jax. That gets you access to all of the doctors, as they can't figure it out where you are they will consult with doctors from elsewhere.

 

[Hagger]

Bump for update on first post.

 

[AAABatteries]

Man - that’s crazy but really happy for your friends boy.

 

[Terminalxylem]

A friend of the family just died after getting poised from metal in an artificial hip get in her blood and there was nothing that could be done about it.

Anything nobody can figure out, get to NIH or Mayo immediately. Sell whatever necessary to get there. If you can't get in either, Cleveland or Johns Hopkins. Do not #### around with doctors who are not getting anywhere.

ETA: Mayo now has affiliates in places other than MN, Scottsdale and Jax. That gets you access to all of the doctors, as they can't figure it out where you are they will consult with doctors from elsewhere.

Yeah, cobalt toxicity is a thing for some types of older implants. There is a documentary on Netflix about the medical device industry that mentions it.

 

[Terminalxylem]

Great to hear the kid is doing better. It looks like mirror therapy has been used for phantom limb, but the OP sounds nothing like that. I'd be really interested to hear the exact diagnosis, as the seizures, nail loss and other findings are hard to reconcile.

 

[Hagger]

Great to hear the kid is doing better. It looks like mirror therapy has been used for phantom limb, but the OP sounds nothing like that. I'd be really interested to hear the exact diagnosis, as the seizures, nail loss and other findings are hard to reconcile.

Yeah, it's all very strange.  Unfortunately I didn't have the chance to really hash out many details.  The diagnosis wasn't actual phantom limb pain, but a neurological disorder that has similarities.  I have no medical experience at all so a lot of it was foreign to me.  I know he's still on some medications that are treating other symptoms.  If I get a chance to find out more specifics I'll come back and update again.  But this whole ordeal really did seem like an episode from 'House' where unusual symptoms led to unusual treatments and no one has a true grip on the full condition.

 

[OrtonToOlsen]

Doctor:  I think the best treatment for your pain would be "Mirror Therapy".

Dracula:  Uh...

 

[Man of Constant Sorrow]

Doctor:  I think the best treatment for your pain would be "Mirror Therapy".

Dracula:  Uh...

1st thought ... Vitamin D Deficiency.