Magnus33, I'm sorry that you have been going through this upsetting situation.
I'm not a doctor, but I can give you some ideas based on my own experience and what I've learned.

Right away I see a possible connection between the broken bones and the nerve problems---I think they may only be related to gluten problems as well as iron.

One frequently sees nerve damage and weak bones in people with undiagnosed celiac disease---but also in people with gluten intolerance. What happens is the gluten in food destroys the cells in our intestines that absorb nutirents from our food. The bone breaks can be from not absorbing calcium/magnesiun in food; the nerve damage is from lack of vitamin B12 because your intestines couldn't absorb it from food.

One way to test and see if gluten and the malabsorption and malnutrition that go with it are your problem is to do 2 things:
#1 Get all the gluten out of your diet. ALL. A little gluten in the diet is as bad as a lot. Google "gluten free diet" and you will find many helpful websites.
#2 Daily take a good multi-vtiamin that contains B-complex in liquid form under your tongue. This bypasses any gut damage done by gluten and gets the vitamins right into your system---but---also find a B12 pill (lozenge) that is dissolved under the tongue. It is lack of B12 that causes muscle twitches and other nerve problems. I have had good luck with finding B12 "lozenges" for under the tongue/ and liquid vitamins at any health food store or at the Vita Cost web site. P.S. Make sure that the B12 label says "Methylcobalamin".

It can take a few weeks or up to 6+ months to notice an improvement in health after starting gluten free and vitamins. It depends on your individual genes and situation.
I hope this was helpful

Not a Dr. either but I would not blame this on HH. I would ask your Dr. to keep looking and I would be assertive about it. JMO

The bone break was do to a fall from a height and the bone is otherwise normal.
The nerves themselves are perfectly normal as i done a never conductive test to check this.
In fact the test was done twice the second time more extensive to test my nerves and though i am no doctor its not hard to know i failed a couple of those tests.
I suspect they already have a idea of what going on but are waiting to neurosurgeon to confirm it.
Romberg's test was easy to know since nearly falling on your butt gives that away..lol. I also had to touch the thumb and fingers together on my hands but couldn't get the action correctly started tell he helped.

So either the nerves where damaged in my neck which appears not to be the case since i had that mri or its something in my mellon.

Also my b12 fine and iam not allergic to gluten.

Doctors aren't talking about it and avoiding my questions tell i see the neurosurgeon but it doesn't take much figure out two likely things may have happened.

One the fall did damage but that tends to showup and they tend to freak out over stuff like that.
Or something else has done damage which doesn't showup on a catscan.

It may not be HH related but its suspect and one of the doctors let slip when he was talking with his colleague in the hallway that pd was suspect.

I have some very similar symptoms...it got very pronounced in my left thumb, moving and twitching involuntarily, mostly at rest, but it can and does happen when I clench together like holding a pen or paper...it got to driving me crazy the other day, and I have been researching the other problems I have with muscle twitching and cramping, in my feet, legs, thighs, internal...all very painful, but what I found was called Benign Fasciculation Syndrome. It is already something I know I am having trouble with and then when I googled "left thumb twitching" I came upon many sites that talked about that, and it relates to BFS...with the cramping it can also be called Cramp Fasciculation Syndrome or CFS...so I gues i have both. I suffer terrible from RLS and have since a kid and unbearable aching and cramping legs and muscle twitching drives me crazy.

So, long and short...I had my B12 tested and I am a little lower than optimal, which is anywhere from 500-800...BUT what is related to this other twitching thing is magnesium deficiency...sorry for the technical terms and all...lol. I have iron loading, am waiting for DNA testing later this week or next, but in the meantime, I do not know why I have high iron, TSAT and ferritin. I am 42 female, pre-menopause and so the iron would be higher under different circumstrances.

As a carrier with H63D, your risks are very low to iron load, UNLESS there is another underlying condition, like something realted to liver, or anbother gene you have that they do not test for. This is more and more talked about in the field and research on what causes iron loading in some and not others, both as homozygous and heterozygotes.

So, don;t dismiss the possible connection to iron and neurological damage...it is there and it is real. Parkinson's and MS and ALS are all motor function disorders that are being found to be related to iron on brain, the immune syatem is also compromised in people who are carriers for HHC gene, leading to auto-immune disorders.

As a carrier you can still develop iron overload. And everyone is different how they respond to excess iron and the symptoms they get. Do you have any numbers on ferritin, TSAT, or TIBC? Liver enzymes?

i personally have learned of two people recently with H63D heterzygous mutation and one had ferritin over 2000 and the other over 400. It can and it does happen. My husband is compound heterzygous C282Y and H63D which is also supposedly lower risk, 5% chance, yet his level was 863 ferritin and 71% TSAT...but he has underlying condition that precipitates and encourages hepatic iron absorption.

Best thing to do, get all your numbers currently and then deal accordingly to your situation with your symptoms. Look into the BFS and CFS, and magnesium, and have the dr run a B12 just to see. Also get thyroid checked while they are at it, and not just the TSH...VERY IMPORTANT to run FREE T3 and FREE T4 and insist on those two with the TSH. (Make sure they say FREE). Run cortisol, testosterone, and DHEA tests. You'll cover the basics and the hormones at the same time.

Cheerz, C

Sorry, meant to give you a link I had for BFS...

http://en.wikipedia.org/wiki/Benign_fasciculation_syndrome

Just talks about it and explains it some, but there are more sites too.

I have one here about the H63D gene...just to show that it too is important predicter for disease and conditions related to iron overload.

http://www.irondisorders.org/Websites/idi/files/Content/854268/ST%20H63D%20APR%202010.pdf

Take care. C

After talking to my doc about it and he says the h63d was thought to be very low for developing iron overload.
He says no research is being to suspect they made simple error but one very easy to make.
Once you lump h63d in with all the other forums of the mutation its becomes statically rare for a person to develop iron overload.

The problem being is that because h63d cases are so rare it gets drowned in all the other cases and becomes statically insignificant.

In my case its clear i have iron over load as both my saturation and ferritin where very high. 76% and over a 1000.
My ferritin is around 400 now and still has quite a ways to go.

Had my lungs/heart/liver/pituitary and thyroid checked. and the liver is the only thing showing changes..fatty enlarged liver enzymes off but not hugely so.
My viiataims are in normal range with the except of iron of course.

The problem with and why iam guessing they suspect pd is that its gotten worse of the last nine months.
Both hands have lost a certain degree of feeling with it having started in the left, control is spotty at best and i can't sign my name in a way that's readable anymore.
Add to that my balance and stiffness issues plus the moments where i can't remember things and even i can see why there thinking this.

Funny i done my damnedest to ignore or pass symptoms off as no serious but its gotten kind of hard to ignore.

Time to see the family doc tom and fess up and see what he thinks before i see the neurosurgeon.

Funny thing is after reading the doc on h63d i already had one of those problems. I had leukemia in my younger days.

Well, with the elevated liver enzymes you have someliver inflammation going on. Liver inflammation leads to scarring...etc. So you need to find out why they are elevated. Iron loads onto liver first so, if you have liver inflammation and higher than safe ferritin you want to make sure they asses the situation carefully. Fatty liver will definitely cause some liver stress. But fatty liver, whether it is NAFLD (without alcohol as factor) or not, does lead to more severe liver damage like NASH.

Interesting you had leukemia as younger child. There are 4 main groups of leukemia but many sub groups...did you have the ALL type, as mentioned in the article? Or another? The ALL type is most frequently found in children. What type of treatment did you have for it?

Have you ever been tested for Hepatitis viruses. We are all exposed more frequently than we think, but due to a compromised immune system and a environment that viruses thrive in for replication, Hepatitis is one that is difficult to fight off with a weakened immune system.

So, I guess some scans and more tests will be your plan of attack, to get to the bottom of your iron loading, and treat it appropriately. Regardless of the mechanism or cause, you are iron loading and this needs to be remedied. Iron is iron. In a body that does not "know" how to deal with iron appropriate;y and safely this is even more dangerous. So you are doing the right thing and investigating. Biopsy is something they may suggest.

Another link for you...

http://www.fattylivertreatment.info/fatty-liver-disease/difference-between-fatty-liver-disease-nafld-nash/

Well, hope it all turns out well for you and you get all the answers you need. Sounds like you have agood handle on the procedure to get there...take care. C

I had acute myeloid leukemia in younger days.
No hep as they checked for that and i think they do it as soon as possible for there sake too.

My doc was straight forward as always and didn't bet around the bush.
He says i got classic signs of it and the pattern fellows what one would expect for early stages.
And given the tests i already done most other possibility are ruled out.
Now until i see the neurosurgeon it wont be confirmed or at least tested to see how i respond to the meds to confirm it.

Well, keep us up to date as you go, and I hope they find the source of your liver inflammation, but my guess is it has to do with the fatty liver...it causes the liver to load iron that much faster, so you can take steps to reduce that issue with lifestyle changes. They will coach you on those methods. What meds are you speaking of? Is it for the fatty liver? There are no meds for iron, unless they are doing chelation... so just curious. Sometimes fatty liver is due to diabetes, or metabolic syndrome, so I'm sure they will track that and check into it. Important to get to bottom of why your liver is fatty, and if it has to do with diet then you can modify it, same as if it has to do with alcohol, it can be modified. If your cholesterol is high, making diet and lifestyle changes and adding more excerice will help bring those down. If it is fatty liver you don not want to let it go and it turn into NASH. Liver inflamation leads to scarring. Simple. No matter the source. Once it begins to scar you have decreased function and it begins to affect other organs and blood vessels, bile ducts...on and on. Gotta take care of the liver! There are no pain receptors in liver so the pain we feel due to liver inflammation and damage is usually in surrounding organs getting encroached upon. That is why so meany people are alking around with progressive liver damage and don;t know it. There is no pain in liver.

So let us know what you find out and keep in touch, Take Care, C

It would be meds for Parkinson since there no real test for that they put you on meds when they think you have it and then take you off to see how you react.
Basically there way to confirm it i believe since if you get better on them and then get worse again off them its confirmed.

Funny i think i known for something more was going on but i wanted to ignore it on some level.

I did read up on the MS and Parkinson's and ALS thing when I researched my muscle twitching etc, and scared myself half to death but there can be simpler possibilities, so don't get too down about it. Hopefully it is nothing as serious as what you fear and can be ruled out with further tests. Many of the symptoms you describe can be attributed to other things, and not PK. Do you have that in your family or a history of neurological disorders? Do you know where the gene you got came from?

It's hard not to think the worst. The symptoms of iron overload can be very similiar to what you describe. Simple magnesium deficiency can cause tremors and twitches. With iron it can be anything.

Keep in touch and try not to think the worst. Easier said than done, but just take one thing at a time.

Take care, C

Sorry typo...meant PD not PK...ha

Also, PD is one of the things that is related to iron, and iron on the brain. I have some links for you, and the good news is that getting iron down will help you. They do use chelation therapy for PD...

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2756717/

This one is very recent...June 2012.

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3382398/

Maybe that can help you when talking to your dr or neurosurgeon as well coming up.

Cheerz, C