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I went to the genetic specialist today and after a few hours of clinical diagnoses, counseling etc... I ended up having 7 (yes 7!) tubes of blood drawn and the possibility that I have yet another rare disease called Fabry.

I was just curious if anyone here has been tested for this or even has it. They gave me a lot of information to read and of course I sat in the parking lot of the hospital and read it in my car and cried. It is going to take a while before any of the testing comes back so I am trying not to think about it and to stay positive....but I would be lying if I said I wasn't really worried about it.

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(((((((Stace)))))))))

I'm sending gentle hugs your way- very disconcerting. I know nothing about Fabry, but I did look it up. Sounds scary, but try not to panic until you have results. Easier said than done :) When I saw a geneticist recently, he strongly suspected EDS, type IV- where the average life span is 46- the age I was at the time- YIKES! I ended up not having it or the other diseases he strongly suspected. One couldn't be ruled out with a blood test, so I did some preventative diagnostic screening.

Even if you do have Fabry, keep in mind that knowledge is power. I am certain that there are diagnostic tests and preventative measures you can be doing to keep yourself healthier. Study and see if you think it fits. Check out all of the resources that you can. Keep us posted. I'm keeping my fingers and toes crossed until you repost back.

Julie

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Stace,

My mom always said this, "No news is good news."

Today you don't have the dx and let's all pray that you don't.

Keep yourself as stressfree as possible.

Let it all out here.

You know you have all of us here for support. That's

what is so wonderful about this forum, there is love

all around sweetheart. I just said some prayers for you.

You keep us posted, and if It's driving you nuts. everytime

you start thinking about it try this, I say, "cancel, cancel."

I hope the results come back soon. Remember we are all here

for you. So, try to relax and don't even read about it. If you were

to have this then by all means educate yourself.

HUGS AND GOOD THOUGHTS~

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Hi,

I know you are in Columbus too, (well, I was... now in Cincy) I wonder who you went to go see? I saw a neurologist that did some testing that was for Fabry's disease. (weird, you posted this, I was just looking this back up last night!) (among a multitude of other things... I think I got 7+ tubes drawn that time too!) :)

The test that tests for Fabry's for me came out high, but no one ever addressed it to me. I think in the notes from the test it says that I may be a carrier (test not definitive), but that I do not have it. Not sure, but had just kinda had hoped that since no dr addressed it with me or made the diagnosis, that I don't have anything to worry about. My alpha galactosidase was .251. So, hopefully nothing to worry about...

I wish they would have discussed it more with you, instead of sending you out to your car upset! Sounds overwhelming! I can see where you are concerned about the testing. I think that they are just trying to be thorough, and look for any possibilities. The fact they drew 7 vials means that this was not the only thing the are testing for. They are just wanting to look into any possibilities diagnosis-wise. Try not to worry too much about it. I have not ever seen it discussed in any of the dysautonomia information I have seen, so there does not appear to be much link between the two.

I hope that the results don't take too long and that it will be negative for Fabry's.

Try not to worry to much!

:(

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I went to the genetic specialist today and after a few hours of clinical diagnoses, counseling etc... I ended up having 7 (yes 7!) tubes of blood drawn and the possibility that I have yet another rare disease called Fabry.

I was just curious if anyone here has been tested for this or even has it. They gave me a lot of information to read and of course I sat in the parking lot of the hospital and read it in my car and cried. It is going to take a while before any of the testing comes back so I am trying not to think about it and to stay positive....but I would be lying if I said I wasn't really worried about it.

{{{ HUGS }}}

I am sorry you are struggling so. I really dislike when MDs tell you the worse case scenario without full proof!!

Do you have family/friend support?? You know you are not alone..there is a forum I noticed on this disease. Its not fatal. Just like all these crummy diseases you learn to reduce the stressors and symptoms the best you can.

But..you MAY NOT HAVE it either. What are they basing it on?? Could they get the symptoms confused with POTS/Autonomic disease symptoms??

Take care... lots of blood vials mean they are running multiple tests..to rule things OUT as well as diagnose.

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  • 4 weeks later...

The genetic counselor called me a few days ago, she said the first test came back "inconclusive" but on the border and abnormal. I asked what other reasons the enzyme level would be abnormal and she said there is nothing that they are aware of. They attempted to get the next test covered by insurance but they said without a male in my family having a confirmed diagnosis they will not pay for the test (it would be $4000 out of pocket!), I have to call them again tomorrow and try and get it covered because I am not in contact with my father so there is NO way for me to find that out. Once the second test is actually run (its a DNA gene test) it will take another month for the results... I don't have a good feeling.

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How awful to wait for results but not get a conclusive answer. I hope that you manage to get the test covered by insurance.

I don't know if you are wanting information on Fabry but if you do this UK website looks good (it has been written by the genetics branch of Shire a biopharmaceutical company).

Let us know how you get on with the insurance company and further testing.

Flop

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A friend of mine asked me about this the other day. Her son has it, and in comparing "weird stuff that happens", she always has to remark how like her son I seem. I asked if it were one of those diseases in which women get a milder version...ofcourse, this she said, was sparking much controversy in support groups as some are now questioning if this is entirely true. Looked it up again, and it was a little creepy. However, I'm long past the need to go investigating every little possibility.

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visualize them saying yes they will pay and make it happen.

I wish you the best and will be waiting to hear your up date.

(((((((HUGS))))))) BellaMia~

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Stacie,

Would it help change your insurance company's decision if your doctor would write a note describing how important it is for your health to take the test? I had good results with this one time when I was in a similar situation. Make sure it gets to the head of the company, otherwise you'll have to deal with reps who have been taught rote answers for everything. At least get it to a supervisor - and you write one, too. It's very important to send something in writing, directly to this person, and keep copies of everything for yourself.

Here's wishing you the best of luck! My insurance company ended up paying almost all of my Mayo costs, so I know it can be done! Let us know how it's going...

Jana

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I just got off the phone with the insurance co, they said the next step is having the genetic specialist send a letter of medical necessity so I am waiting for the geneticists counselor to call me back and laying in bed feeling like **** today. I guess this never ends!

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This is just a thought and I may be wayyyyyyyyyyyyyyy off but, as I read the last post in my in box I get ads related to my emails. they are spying on me...

By would there be an outside company that would do the test cheaper????? I remember not long ago, a friend of mine child's has brain cancer and the hospital wouldn't pay for a certain test and the parents went to a outside company who tested the baby and found a certain gene for ca that had been overlooked and that they were able to try one last drug on the baby. Hospital said the test cost too much they paid 150 dollars privately. Sadly, this baby died a week before her second birthday. She left behind her twin sister.

But they learned this important piece of information to pass along to others pressed by insurance and hospital telling them they wont pay for tests.

Good luck and hang in there.

BellaMia~

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I just got off the phone with the insurance co, they said the next step is having the genetic specialist send a letter of medical necessity so I am waiting for the geneticists counselor to call me back and laying in bed feeling like **** today. I guess this never ends!

I went through the same thing when I recently was tested for EDS, Type IV and Loeys-Dietz. I do recall that it was an insurance nightmare. BUT, your genetic counselor will quickly put together a letter of medical necessity. They do it all the time. Please ask her to send you a copy, send the insurance co. a copy & fax them a copy. My problem was that the insurance co ALWAYS claimed to never have received the letter (a little game they play :P.) If you have your own copy, you can also fax and send it to the insurance co.- certified. Once they get that, I'm sure it'll be approved. The 1st line person at the insurance co. always told me "NO." Once I got through to a supervisor, it always turned to "YES."

It's hard to wade through all of their crap when you are so worried about your health. I feel for you, Stace. Let us know what you find out.

Hugs-

Julie

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