Thanks for your reply.
I'm from Israel. Money is not an issue right now, and I also have an insurance.
Before we had our second pregnancy we did some gene testing and they found a mutation in IKBKAP gene IVS20DS.
Another genetic thing I'm trying to explore are those papules I have on my palms and feet, which I think are Acrokeratosis veruciformis which involves ATP2A2 gene.

I think I also see petechiae on my skin.

Any idea about these?

I have started today to take some supplements: B complex, Alpha lipoic acid and probiotics.

Did another run of blood tests yesterday, RNP is again high - 2.2(prev was 1.5), ANA pattern and titer are still WIP, i really pray it will return negative as last time.

I should see another neurologist in 10 days.

Hi madmax80

The IVS20DS variant of IKBKAP is relatively common in people of Ashkenazi Jewish background and can lead to sensory neuropathy. The "Molecular Genetics" section here might help you in discussing this with your health care team OMIM Entry

- * 63722 - INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, KINASE COMPLEX-ASSOCIATED PROTEIN; IKBKAP.

Acrokeratosis verruciformis is an autosomal dominant condition associated with mutations in the ATP2A2 gene. What that means is that it has a strong family genetic history - if one of your parents (and either of their parents, etc) has it then there is a 50:50 chance that you will.

The information here might help you in this context Acrokeratosis Verruciformis of Hopf: Background, Pathophysiology, Epidemiology.

Thanks kiwi.
I am Ashkenazi Jewish. But as far as I'm aware the xymptoms of familial dysautonomia are much more severe comparing to what I feel.

As to acrokeratosis - it seems like my father and sister have the same papules on their feet dorsal, but they dont have any neurological symptoms at all.

Did you look up those genetic results?

It appears to me that you have various risks for several diseases, which are all rare. (including dysautomnia, and malabsorption of fats because of pancreatic failure, and nervous tissue problems).

It might be best to see a good genetic specialist to find out which nutrients would be best for you. For example, if you cannot absorb fats from the diet well, you may need Vit A and E supplements.

Genetics is still an infant science, but you need to find out more about yourself. Getting MTHFR DNA test may show you have methylation failures and you may need methylcobalamin and methylfolate to correct that.

Genetic errors manifest differently in different people.

Not all cells share the mutation equally.

I have a friend with a daughter who was diagnosed with Turner's syndrome. When she went to a specialist, this doctor tested cells all over the girl's body and found only about 50% of her body was missing the X chromosome.

But this illustrates that the expression of DNA mutations are variable. One cannot take them literally. This is why having a specialist is a good idea to formulate answers or treatments.
Sometimes environmental stressors (illness/infections, excessive exercise, etc) may trigger symptoms.

Thanks mrsD.
I did see a genetics specialist something like 3 years ago. He sent me to do the brain MRA which returned normal.
Who is the best genetics doctor you know or best center i can try and reach?
I should have a full genetics panel next week where they will try to search for a sodium channel mutation.

You can search just as well as I can. I have no idea what is in the area you live in. However your heritage where you are suggests to me there must be genetic specialists where you live.

Ask to see what is in the test you are getting. Will it be a full genetic screen? Or only a partial for neuropathy? I think you should get a full test like janieg got for her issues.

Some doctors only test for specific problems and do not give a full workup. Did you check out her new thread yet?

It is sometimes difficult to shift from patient to being your own advocate. With time you'll learn much more if you are less passive with the doctors and do some research on your own.
Also make sure you get your B12 tested to see if that is seriously low. No supplements for several days before the test.

But for now, try not to overdo physical exercise, and eat a varied diet, avoid too much sugar and carbs. Look up each coded mutation and see how it impacts your metabolism. I found alot in just a few minutes. The malabsorption error you have suggests what nutrients you should concentrate on.
I would avoid the lipoic acid supplement as it takes up the multivitamin transporter, and prevents other crucial nutrients from getting to your tissues.

All you can do in the end is support your tissues with non-stressful activity, good food, good rest.

Madmax80, I have been thinking a bit about your genetic issues.

As far as your familial dysautonomia is concerned, this, coupled with the fact that genetic testing has shown that you have the IVS20DS genotype means that both your copies of the IKBKAP gene (on chromosome 9) have this mutant form of the gene. This is because familial dysautonomia has what is called an autosomal recessive pattern.

I do not know if your wife has had similar testing for the IVS20DS genotype but if she has it, (in the absence of frank symptoms), that means it is found on only one of her copies of chromosome 9. If so, that means that all of your children have a 50% chance of developing familial dysautonomia.

Acrokeratosis verruciformis is very rare and is not correlated with people from any given ethnic background. You could get tested for mutations in the ATP2A2 gene if you want to.

I appreciate that there are many hard concepts in genetics and molecular cell biology here. If you and your wife are not very familiar with these hard concepts then it might be an idea if you saw a professionally-trained genetic counsellor.

S/he should be able to talk you both through the implications of your genetics in ways that you can both understand.

Thanks kiwi for thinking about the data i provided.

I do not have familial dysautonmia, just to be clear. just the mutation in the gene. My wife doesnt have this mutation, so we should be safe.

The acrokeratosis verruciformis diagnosis is mine and not the doctor's, yet. This is my assumption due to the fact i see those papules on my father's and sister's dorsals also. I should see a dermatologist with genetic diseases interest by the end of the month.

Thanks mrsD.
I should be doing an Exome sequencing. Is this the right direction to try and find everything?

Because of the diarrhea i have been having for the lat several months i have started today a hipo-allergenic diet based on brown rice, vegetables and fruits. I also need to treat the blastocystis hominis parasite i have in my stool using antibiotics, hopefully to start next week after more stool tests.
My blood B12 levels are at 525 pmo/L after 2 days i didnt take my supplement.
I currently take a B-Complex, Alpha lipoic acid 600mg(should go to 1200mg in couple days, and a week after go to 1800mg daily) and probiotics.

Until last week when I met my neurologist and he let me know it's likely a small fiber neuropathy, I used to go to the gym 3-4 times a week, I'm running, I play professional table tennis. Now i'm afraid, although I dont think I should be.
I'm also having tiny fasiculations all over the last couple of days. I used to have those in the past, usually one area at a time and then it will go. I guess from the current stress i'm having, this is all over.

I have read that Phosphatidylserine might help with IKBKAP gene mutation symptoms. I'll consult with my doctor.