Fabry Disease??
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April 28, 2010 at 12:46 pm
[FONT=”Georgia”]Has anyone ever heard of this? I was doing a little research, as my latest neuro has suggested I may have “Small Fiber Polyneuropathy”, and some sites suggest that it is the number one cause of Small Fiber neuropathy.
It is an X-Linked genetic disorder, that is commonly overlooked. Effects boys/men much more frequently than girls/women, for obvious reasons.
Just wondering.
On a different note: did the local MS Walk this past Saturday, supporting some friends…dang near killed myself! I’ve been paying for it ever since…incredible fatigue, pain, increased tremors, etc. Really bothers me that I can’t even walk three miles anymore without paying for it for a week afterwards! 😡
Thanks for your support!
Elmo[/FONT]
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April 28, 2010 at 1:51 pm
I have a friend who has a daughter who was recently diagnosed with Fabrys. She has gone for years and they did not know what was wrong with her. She is 12 years old. The mother said that she finally asked to see someone in genetics and they started by testing one thing at a time and they found Fabrys. If you google it, it sounds awful but there are enzyme infusions for it. The mother was convinced that she was the carrier and even started feeeling like she had sympotoms and then they tested the dad and they were like, here’s the carrier. I know that it is a genetics test to confirm. best wishes
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April 28, 2010 at 2:00 pm
If you go to the attached link, you’ll see that it couldn’t have been “the dad”…
[url]http://www.ninds.nih.gov/disorders/fabrys/fabrys.htm[/url]
Unfortunately, people will feel “responsible”, but there’s no guilt to accept or hand out. How can someone be “responsible” when they have absolutely NO idea they had it in the first place??? I, too, had these thoughts when I first read about it, because my daughter shares a lot of symptoms, but there’s NO WAY I could pass it along to my daughter…only my wife. And the chances of her having the gene, as well as I, are almost impossible.
So, I think someone was just trying to comfort your friend.
Elmo
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May 3, 2010 at 3:43 am
Hi Elmo,
If you have CIDP, especially after a few years, a simple skin biopsy can confirm, “small fibre atrophy”, with your neuropathy, (CIDP).
This will most likely mean your CIDP will hit your autonomic system.
I can attest to the above, as that is what happened to me.
Slowly, every few months, the CIDP would hit another organ or system of the autonomic system, thus bringing on another specialist to deal with that, (and doing tests to prove it was the CIDP attacking it), and more pills to take.
It hit the nerves controlling my heart, (giving me tachycardia), my bladder, (giving me a neurogenic bladder with a permanent catheter now), my digestive/swallowing system, (of which the nerves controlling the stomach do not work, and I must take pills to make the stomach “dump”, as well as difficulty swallowing and choking–my doctor said if it gets worse then it is time for a feeding tube), and the worse it hit was my phrenic nerve, which controls the diaphragm, which leaves me with very shallow breathing, and both my pulmonologist and GP have both said that is what will do me in–I will be too weak to fight off a flu or pneumonia, and that is what will do me in.
Four of my doctors told me I am dieing. I have advanced CIDP.
I have gone through the various treatments of the protocol for treatment of CIDP, and failed. The best that helped–it did not put me into remission, but slowed the progression of CIDP, was Cytoxan. But I was on it for 1 1/2 years, and being on it that long, it was then doing damage to my body from the drug itself, (I now have osteoporosis which the Cytoxan contributed towards, and mildly damaged kidneys). I am on the absolute last med there is for CIDP, which is Rituxan–and I have little hope it is doing anything.
Though, having seen a top neuro in the country at UCSD, he told me after 6months, if the Rituxan didn’t do anything, I would go for stem cell transplant evaluation. Though, he said I have to be “healthy enough” to get the s.c.t.,
that is a catch-22…I need it to possibly save my life, but yet the CIDP has given me a terminal prognosis.
Go and ask for a skin biopsy–the neuro does it in the office–very simple two jabs with a thick needle in the thigh, and it’s done. Then you get the test results. There are many of us here on this site, where the CIDP has hit the autonomic system. Just ask.
All the best,
Ken
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May 3, 2010 at 7:46 pm
Thank you, Ken, for taking time to write to me.
I’m actually waiting right now for approval to go to the only neurologist in the state of Utah that does skin biopsies for diagnosis of neuropathies. His name is Gordon Smith, and, as is my luck, doesn’t take my insurance. But, I’m supposed to hear back this week on when an appointment can be arranged, then start the battle with the insurance.
I knew I probably didn’t/don’t have Fabry’s, but was interested in what is associated with SF neuropathies.
Thanks again,
Elmo
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May 4, 2010 at 3:53 pm
Elmo,
I was checked for small fiber neuropathy. The neuro did a sweat test and a skin biopsy (2 places on the leg, ankle and thigh). My tests came back negative, but I was told that if it was positive, then IVIG would be an option.
I really hope that you get a diagnosis and some treatment. It makes me angry, all of the people on here, including myself, who cannot get a diagnosis or doctors who care or the appropriate treatment. All you can do is keep trying…I just take a break for a while and then start up again. Good luck!
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May 5, 2010 at 10:05 am
Thanks, Jessica!
After waiting for three weeks to hear back from “THE guy”, I decided to call yesterday and check the status of my referral. I was told that they’d reviewed my records, and could see me THIS Thursday! WHOO-HOO! (I Think…)
So, the good news is that the doc that is considered to be the top neuro in Utah for this sort of thing will see me; the bad news is that he’s NOT covered by my insurance. The call was at the end of the day, but I was able to get one phone call in to my insurance company. All I could get was some “automoton” who could only recite from his script…”If the doctor is outside our plan, then [we] won’t pay”.
So, today I get to fight with my insurance company, talk to the hospital where the doctor is working and see what their policies are for pre-arranging payment methods, call the doctor’s office and see if they can give me an estimate of what this initial visit may cost, and weigh it all out. I DO NOT have the resources to “just pay it” myself, out of pocket.
We’ll see what the day brings! Keep your fingers crossed!
Elmo
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May 10, 2010 at 12:43 pm
Hi Elmo,
Just wanted to give some friendly advice about insurance companies…DON’T GIVE UP….Keep after them, I know how frustrating they can be to deal with. I certainly hope everything
goes well for you. You’r in my prayers! -
May 10, 2010 at 7:47 pm
I was a little disappointed last week when I saw the “new” neurologist; he seemed to think that what I’m going through may not even be a peripheral neuropathy, let alone CIDP. He said he thought it was probably either musculo-skeletal or pulmonary in origin. I couldn’t believe it! So, needless to say, I was depressed over the weekend as I thought about how I can’t even get two doctors to agree on what I “don’t” have, let alone what I “do” have.
But, today, I was speaking to an old friend, and she asked about my health. I explained that things were getting worse, rather than better, and she asked about my symptoms. She was shocked, and started telling me about her daughter. Her daughter has struggled for two years going from doctor to doctor, with numbness and tingling in her arms, legs, and face, extreme fatigue, etc., etc., etc. She was convinced she had MS. She went to a local neurologist, who ran an exhaustive battery of tests, and then called her, asking her to come to his office, because he KNEW what was causing her symptoms. My friend, her mom, said she called her, bawling, because she just KNEW he was going to tell her she had MS.
Turns out she has a PFO…Patent Foramen Ovale…a hole in her heart! She is having a “minor” surgery tomorrow to implant a screen device that will allow tissue to start growing onto it, and will completely close the hole within six months. The cardiologist said she’d feel like a completely new person when it was all said and done. It seems that about 30% of all humans have this, but it is only detected when it causes other symptoms, and even then, it’s overlooked in a lot of cases. Patients go from one doctor to another, much like with CIDP, and are often looked at like they’re crazy, hypochondriacs, drug-seekers, etc.
The reason I’m hopeful is NOT because I necessarily think I have a hole in my heart, but because of the way her neuro handled everything. He was determined to find the cause; ran several days worth of tests, and then spent a few more days pouring through the data. Guess who I’m going to be calling for an appointment tomorrow!! 😀 I DO have to say, though, there are a lot of things that are ringing bells; my last brain MRI showed four lesions, and the radiology report stated that they appeared to be the type caused by “ischemic” events. I had coffee with another old friend last week, and she’s a long-time pulmonary ICU nurse; one of the first things she said was, “[Elmo], your fingers are “clubbing”…did you know that?” I told her I’d heard the term, but wasn’t aware what it meant. She explained it to me. Ischemic events and “clubbing” fingers are two of the most prominent signs of a PFO, so…who knows? :rolleyes:
So, maybe…just maybe…there ARE doctors out there that are willing to earn their pay! 😉 Hear that “chugga-chugga-chugga”…it’s the roller-coaster heading back up the tracks! 😀
Elmo
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May 11, 2010 at 8:27 am
Jessicah,
My husband wa diagnosed (in NYC) wiht autoimmune based small fibre neuropathy. He had 4 days of loading doase of IVIG and it helped for the first 2 1/2 weeks. It is back now with some muscle weakness as well , We are desperately trying in Canada to get more IVIG but– They don’t give ot yout unless it is definitley CIDP.
Do you have some references for us to support its effectiveness in Small Fibre Neuropathy?
Greatly need your information. Thanks.
Kathy
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May 11, 2010 at 11:30 am
Kathy, I was not diagnosed with small fiber neuropathy, just tested for it, so sorry I can’t be much help. My tests were negative. Frankly, my neuros at University of Chicago were really not much help and resistant to answering my questions.
Elmo, hope you have better luck with this next doctor. There is definitely something going on with you, the question is what? That question plagues me too, since I have all these symptoms and no definitive diagnosis. I too have been hoping for a doc to take an interest and to try to figure it out. I am in the service industry and I cannot tell my clients, “Sorry don’t know, can’t help you.” No, I have to do whatever I can to answer their question, research etc. I had hoped docs would be like that, intrigued and research it, call other colleagues. But my mom says, “they don’t have time.” What did they get into medicine for then? Research, money? The whole basis is to try to help people. Good luck with your next venture and keep us posted.
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