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Waiting for KF test, Wilson's likely

Neven
0 Recommendations

Hi everyone,

I don't believe I qualify as a newly diagnosed member yet, but I thought I'd post here anyway. Here's my story:

When I was 23, I started a vegetarian diet which soon turned pescatarian, i.e. vegetarian+seafood. Over the next 2.5 years, I went from 225 lb to 160 lb, just slightly below my recommended weight. Other than that, I didn't experience any symptoms for which I'd see a doctor. I saw a gastroenterologist and he chalked this up to a change in diet and lifestyle.

A year ago, I had a routine check-up which revealed elevated liver function on my blood tests. This was re-run, and in the absence of any symptoms or anything pointing to an obvious diagnosis (e.g. viral hepatitis, alcohol and drug abuse, HIV - they were all negative) my physician decided to re-run the test after 6 months.

The results were the same, so I was referred to a hepatologist, who ran most of the same tests. Finally a 24-hour urine copper test was ordered, and this showed high levels of copper. I'm currently waiting for my KF ring test with an ophthalmologist, but the hepatologist is guessing at Wilson's as the best candidate.

This makes sense in some ways; my diet has included great amounts of shellfish, mushrooms, and nuts for the past several years.

I am, however, free of any of the neurological or physiological symptoms I see typically listed for Wilson's. In fact, I've never felt better in my life - if my weight loss was indeed caused by Wilson's, I guess I need to thank it to a small degree. I've never been as physically active or willing to do so as I am now. My fiancee would probably list crankiness as a symptom, but that's probably hereditary in other ways.

I see that "buddynusa" has posted a similar story, in that he's diagnosed with serious liver problems without experiencing any symptoms. I'm glad I'm not the only one who felt like a liar telling my doc that I really, truly didn't feel bad in any way.

If my diagnosis is confirmed, I plan on learning as much as I can about Wilson's and becoming active in the community. It appears not to be a very well understood or known disease (though my doctor was impressed that I knew what it was, from seeing it on an episode of the TV show "House" - go figure).

I look forward to discussions with everyone here. I do have one small question which I didn't see addressed elsewhere: is there a brand of multivitamin supplements without copper? I've scanned many a pharmacy and all the multivitamins included copper. I'd hate to skip my supplements completely.

Thanks in advance!

Explore topics in this discussion:

Cancer Wilson disease Drug abuse Hepatitis Syprine Cuprimine Penicillamine Liver transplant Stress

22 replies

-Melissa-

Have you had your Ceruloplasmin level checked? Even if you don't have KF Rings, that doesn't rule out a diagnosis of Wilsons Disease. The ultimate test would be a liver biopsy to check for copper accumulation. How high were your levels of copper in your 24 hour urine? Anything above 100 is diagnostic criteria for Wilson's disease.

I'm not sure which vitamin would be without copper. I just take individual supplements like Calcium, vitamin d, B vitamins, etc...

I would also try to stay away from eating animal livers, shellfish (shrimp, seafood, etc...) and if possible, avoid alcohol...at least until after the Wilsons diagnosis is confirmed or ruled out.

I would recommend taking a look on the Wilson's Disease Association website www.wilsonsdisease.org because they have a lot of information and also how to go about getting diagnosed and information for doctors too.

Good luck and let us know how things turn out for you. If you have any further questions, feel free to ask!

~Melissa
(diagnosed 01/2007, liver presentation)

Neven

Thanks for answering!

My doctor hasn't mentioned a ceruloplasmin check yet. I've only talked to him on the phone since he (tentatively) diagnosed Wilson's, so I haven't seen the labwork, but he said that my copper levels were "high" and "indicative of Wilson's."

I haven't eaten "land meat" in years so I'm on safe ground when it comes to liver and organ meat, I think. I'm definitely eliminating shellfish.

Two low-copper-diet charts I found recommended eliminating *all* soy, mushrooms, and nuts. This leaves me on shaky ground when it comes to my protein intake. I know I should see a nutritionist at some point - any advice for now? I eat lots of dairy as it is.

Regarding vitamins - Gummy Bear Vitamins contain only iodine and zinc in addition to vitamins, so I'm taking those now.

doonie

Hi Neven,
Thanks for your post. You sound like you are really on top of things. I also recommend the Wilson's Disease Association website. If my daughter is diagnosed, then through them I'll have found a neurologist who has a Wilson's clinic.

I have a 2 and a half year old who we are testing for Wilson's. She has slightly elevated Ceruoplasmin (haven't got hte spelling down yet), slightly high copper levels, and she has neurological symptoms such as tremors, lowish muscle tone, she has a gross motor delay, and strabismus. The test was a simple blood test. Well, simple when you're an adult. Kind of noisy when you're two and half.

We are currently waiting for the urine test to come back, and she has a brain MRI scheduled for Friday. And an upcoming appointment with a geneticist.

It's a little tricky with such a little one - that is, getting the testing done. However, we are on our way.

If the diagnosis is confirmed, I'm in on this Wilson's community!

I don't know much about protein, but I think brocolli also has protein. Given that you are vegetarian, a nutritionist sounds like a good idea. Medical insurance may cover the cost.

Take care,
and keep us posted,
Doonie

doonie

Hi Neven,
I think that you might have more luck with a liquid multi-vitamin. It has less stuff in it, but that includes no copper.
See if this link is useful:

http://www.koshervitamins.com/shop/stores_app/Browse_Item_Details.asp?showp age=1&page_id=23&Item_ID=2127

Doonie

-Melissa-

Hi Neven,

You can't really have a "tenative" diagnosis of Wilsons disease without having a Ceruloplasmin level checked, 24 hour urine copper and serum copper. Also an eye exam by an Ophthalmologist to check for KF Rings needs to be done. However, you can't rule out a diagnosis of WD if the rings aren't present. If your 24 hour urine copper is high and Ceruloplasmin is low, and no KF rings then you'll need a liver biopsy to check for copper accumulation. If you have KF Rings and a low ceruloplasmin or high urine copper than a diagnosis of WD is almost always positive. However, there are also cases where a person can have normal Ceruloplasmin levels and still have wilsons disease. Liver biopsy would probably still be needed to find out how much copper and to what degree of damage you might have.

You should definitely find out the values of your labs and to see what exactly was tested, keep a file at home of these things. Please make sure to advocate for your health, because if your doctor just takes his/her time to diagnose or not diagnose and you do end up having WD, you could get worse. Sometimes doctors think they know everything about this disease when they really know very little, which is why I really hope you keep pushing the doctors to get an answer. I had to run through the mud with my doctor because she was so positive that I didn't have WD, because "it's so rare, how could I possibly have it" and eventually ended up travelling to Michigan (I live in Minnesota) to be diagnosed and treated by Dr. Brewer. Thank goodness I did, otherwise I could have gotten a lot worse or even died.

I would recommend that you contact one of the Wilson's disease specialists from the WDA website www.wilsonsdisease.org There is a doctor "somewhat" close to your neck of the woods (well since your profile lists Portland, Oregon) who is very good with Wilsons disease who you could contact. At least you would be able to feel confident in his knowledge about the disease and diagnostic criteria.

Here is his contact information (taken from the WDA site):
Sihoun Hahn, M.D., Ph.D.
Director, Biochemical Genetics Program
Children's Hospital & Regional Medical Center
4800 Sand Point Way NE, Mailstop: A6901
Seattle, WA 98105
Phone: 206-987-7610
E-mail: sihahn@u.washington.edu
The pediatric team will see adult patients at the University of Washington.
For information/appointments (pediatric and adult) please contact:
Lisa Sniderman King, M.Sc., CGC
Appointments: Fax referral and records to (206) 985-3121
E-mail: Lisa.sniderman-king@seattlechildrens.org

Also, Dr. Brewer, who is a well known WD specialist says that the only things you should limit in your diet are animal livers, shellfish and alcohol. There are other long lists out there that say to avoid chocolate, nuts, mushrooms, etc...but according to Dr. Brewer eliminating those things all together isn't necessary. Also, as far as your protein shakes...make sure there isn't any copper in them. A lot of times those have a significant amount of copper in them, so you really need to be careful and read labels.

Keep on truckin' to get either a diagnosis or to rule this out. If you have any other questions, please feel free to ask.

~Melissa

Dvora

Neven,

Melissa's given you all the right "ingredients" for how to diagnose Wilson's. As she said, there are two pamphlets at the WDA web site your docs can use and a set of Guidelines that give more detail.

As long as you're not eating a pound of mushrooms (predominantly shitake) or nuts a day, it's more likely the shellfish was a contributor to your high copper levels. (BTW, the WDA website also points you to a US Dept of Agriculture listing of copper levels in food).

At this point it sounds like you're on the right track. Good luck. Also know that if you ARE diagnosed with having WD, there are meds available to help lower your copper and/or prevent more copper from being absorbed. You'd have to take them for life, but most of us can live a 'normal' life with it.

Dvora,

diagnosed at age 41 (also with only mild wonky liver numbers)

Neven

Update: had my KF exam today - the ophthalmologist swears he can't see any rings. I trust him, I suppose, though he had to pull a book off a shelf to remember how to look for KF rings. He says he can't think of the last time he's heard of anyone looking for them. Oh well.

I'll take mjaffeldt's advice and be more aggressive with my doctor about getting tested further etc.

Re: protein shakes, every brand I've checked contains copper EXCEPT Slim-Fast (and the knock-off Slim-Rite).

-Melissa-

Not everyone with WD has the KF Rings. I'm glad that you're going to be more proactive with your doctor to try to figure out whats going on.

I think Slim-Fast does have copper in them. I looked at them at one time and so do the protein bars. Please be careful with the protein shakes...most have copper in them and you have to read every single ingredient because sometimes it has other names, but it is copper. (hopefully that makes sense.)

How high was your 24 hours urine copper? Have you had a biopsy to check for dry weight copper? That will help either diagnose or exclude a diagnosis of WD.

Also, like I previously posted to you...maybe try contacting the WD specialist who's located in Seattle, Washington. Maybe he can help you either get diagnosed or rule out the diagnosis.

Good luck!!

~Melissa

Dvora

So Neven, is the "official" diagnosis WD?

Dvora

mic

the best way and most accurate way to know if you have WD is by a DNA test

mac2

My 26 yr old daughter was diagnosed april 2007. she always had elevated liver levels and i took her for many tests looking for answers. luckily she never had any other symptoms.
she found out about wilson's by going for a routine eye exam. the opth saw the kf rings. (by the way she was tested for wilson's years ago and the blood test were negative. they didn't give her a 24 hour urine test at the time)
the good news is she feels fine, is on syprine and watches the "don't eat" foods.
it is a scary thing when you can have wilson's and really not know it.

McVeggie

mac,

your daughter is so lucky! never had other symptons of WD beside the KF rings.

Neven

Hi again, everyone.

As I'm sure you've noticed yourselves, getting appointments with Wilson's-experienced doctors takes a while. It was a few months before I could talk to a doctor, get more tests, get a strong diagnosis, and start my treatment course.

After further blood and urine tests, I had a liver biopsy for liver scarring/inflammation and copper levels. My scarring is medium-to-high and inflammation fairly low, indicating a chronic problem. Copper levels were compatible with a diagnosis of Wilson's.

My doctor (Dr. Flora with The Oregon Clinic) doesn't think dietary restrictions play a huge role in the treatment, though it's obviously a good idea not to stress my liver or fill up on foie gras.

I'm starting on penicillamine this week. I'll report on the side effects.

My one concern now is the long-term cost of the treatment. I'm switching healthcare plans next month (new job) but with my current plan, I'm paying $250/month (that's just my share of the cost). Then there's the regular 24-hour urine copper tests. I was also advised to get an abdominal ultrasound once a year because of the possible increased rick for cancer.

I consider myself lucky to have a good job and a supportive family, but it's pretty scary to think how a low-income person would have to deal with this.

Anyway, I *seem* to have my answer now - the doc doesn't think another diagnosis is likely at this point - and that's the good news!

-Melissa-

Glad you were finally able to get the proper diagnosis. Penicillamine isn't the recommended treatment anymore. I think most doctors will prescribe Syprine, since it isn't as toxic as Penicillamine. You might want to check into that a bit.

McVeggie

hehe yeah Neven, when I first got diagnose with wilson. hospital visit to my doc per visit starts at 250. That is only sit in the doctor's office with him checking me out for 15 to 20 min. Not including medication nor all the extra MRI, Cat scan, blood work, urine test. my parents flip when they recieve my hospital bills. Their entire saving would be pay just one or two bill. And then there are the hospital stays. I had to file tax for independ as soon as I hit 18. So, I can get on medicaid on my own. This way my parents could have their saving for real emergency.

Heron

Hi Neven,

Glad that you got a diagnosis, but I'm concerned when you say that your doctor put you on Penicillimine, which can have very serious side effects. Melissa is right, you should look at alternatives. In fact, a doctor who doesn't mention the alternatives may very well be out of touch with the latest research, which is also cause for concern.

In the long run, once copper levels come down, zinc is the treatment of choice for most people.

Ann

Neven

Let's not jump to conclusions - I was told about other drugs, but the doctor's feeling was that Penicillamine was the most conservative treatment and the most reliable, assuming I don't suffer serious side effects from it. I've read elsewhere that most patients have mild side effects. Penicillamine is still listed as the #1 drug of choice in any source I've looked at.

In any case, he offered to switch me to another drug should penicillamine prove too taxing.

I'm aware of zinc as the post-normalization treatment; it's not a replacement for penicillamine or other chelation meds.

We'll see how it goes - I'm starting today!

-Melissa-

I don't think neither I or Heron were jumping to conclusions. We have been around WD for a little while and in all of the material on the Wilson's Disease Association website it doesn't show that Penicillamine is the drug of choice anymore. At one point (several years ago) it was, but not really anymore. Syprine is more frequently used now than Penicillamine. If your doctor knew anything about WD and the current treatments, I can bet that he/she wouldn't have even suggested Penicillamine.

I also hope that your doctor watches your levels very closely in the coming weeks. I think different labs are supposed to be checked weekly for the first month of any chelation therapy on any drug to show if any side effects or negative things are happening in the body from the medication. Also, I think Penicillamine has a higher chance of worsening Neurological effects, so just keep an eye on that, if you have experienced any so far.

McVeggie

I'm aware of zinc as the post-normalization treatment; it's not a replacement for penicillamine or other chelation meds. <--oh my god!! that sounded like my current doctor who has no knowledge whatsoever about Wilson Disease. I had to request her to give me certain tests such as MRI of the brain and cat scan of the abdomen. She doesn't want to send me out for these tests because she doesn't get pay. All she wants to do is write me more prescription for the side effect that were create by cuprimine. Gives me 2 month supply of the medication so I have to go back to see her frequently for the med. I have to ask her to give me 6 month supply of med. I don't think she ever give me the 24 urine test ever, nor proper blood test either. I had read the report that she fax over to my primary care provider. The report indicator shows no specific test done that are specific for wilson disease. I haven't gone to her office to request a copy of my record yet. I think I will next week. I know I am doing better in terms of my Wilson Disease. But what are the copper level in me that's what I don't know.

stedfast93

Neven,

I suggest having your doctor consult with the liver team at U of M Ann Arbor, MI. That's were ground breaking treatment was developed by Dr. Brewer. My husband should know, he was their guinea pig back in the late 80's. He's 42 now. He nearly died before he got a real diagnosis however because the dr's in our area (1 1/2 hr north of Ann Arbor) had no idea what they were dealing with! Long story short, hubby has done very well all of these years on Zinc, now Galzin, treatments recommended by U of M. So he's lived well over 20 yrs on this treatment and did fine. Although, he is now on the liver transplant list with a low MELD score of 10... (due to be checked again real soon). They say hubby has done remarkably well for his age and his liver lasted him a considerable amount of time given it was nearly ruined by his late diagnosis initially. We are looking forward to getting a new liver, if the Lord should find us one. I wish you well and highly recommend your doctor consult with a WD pro for sure. Keep us posted!

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