Well, I haven't been diagnosed yet, and I don't seem to have any symptoms. An insurance-related blood test revealed high indirect bilirubin, though AST and ALT were fine. My doctor referred me to a gastro who wanted to run a few more tests before diagnosing Gilbert's syndrome. My ceruloplasmin came back low, so he wants to do a liver biopsy. He didn't order a 24 hour urine test or a serum copper test, nor did he recommend getting my eyes checked. I went to an eye doctor anyway, and she saw no evidence of KF rings. I have three weeks before my biopsy, and I'm wondering why my gastro didn't order the other tests. Does it make any sense to go straight to the biopsy? Is a biopsy the best test? Is it possible to have low ceruloplasmin without WD? I'm thinking about requesting the other tests, so that I can get some sort of feedback while I wait. Getting in touch with my doctor is tough, and the frustration and the worry is starting to wear on me. I'm 31 years old and have had no symptoms (is that unusual with WD?), though I know WD can appear at any age. As a precaution, I'm going ahead with some of the diet changes, figuring it can't hurt. If copper is going to make me sick, I want to cut back now. My biggest fear is that this will prevent me from taking care of my family. I appreciate everyone's insight. This seems like a great community. I've never met anyone with WD before, and it helps to know there are people out there supporting each other.
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anxiously waiting
- By anxiousATL
- Posted February 19, 2009 at 7:29 am · 7 replies
- In Getting a diagnosis
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- Edited February 19, 2009 at 7:30 am
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- By -Melissa-
- Posted February 19, 2009 at 12:15 pm
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Hello~
Glad you found this forum.
It seems strange that your doctor would go straight for the biopsy before doing a 24 hour urine copper. Your doctor could have you collect the urine and get the results back in the time that you're waiting to have your biopsy. How low was your ceruloplasmin? Also, not everyone with WD has the KF Rings.
Here's a algorithm showing the steps to follow to rule out or diagnose WD: http://www.wilsonsdisease.org/pdfs/WDbrochureAlgorithm.pdf
I would probably try to be persistant to get your doctor to test your 24 hour urine copper.
Good luck and let us know how things turn out.
~Melissa
- By anxiousATL
- Posted February 19, 2009 at 1:57 pm
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My ceruloplasmin was 14.5, with the low end of the indicated range being 16.2. My gastro said I was only slightly low, but reading some of these other posts, it looks like 14.5 isn't unusual for WD. Is it common for someone with WD to be a lot lower than that?
I'll press on him for the 24 hour urine copper test. Getting in touch with a doctor on the phone is a nightmare! Thanks for your help.
- By anxiousATL
- Posted February 26, 2009 at 4:18 pm
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Well, several calls to my gastro to request the 24 hour urine test and the serum copper never got returned, so I bumped up the biopsy date. I had it earlier this week and am waiting on the results (calls requesting the results go unreturned). I have a follow-up appt. next week, so I hopefully will get the results by then.
Is this typical of doctors' offices? I have very little experience dealing with doctors. I guess they are busy and shorthanded, but when you call and leave a message every day and never get a return call...that's frustrating....to the point that you are ready to take your business elsewhere.
But, I'm counting my blessings in that I currently seem healthy, if I have something, I think I caught it before it did any damage, I have health insurance and have access to doctors, my wife has patiently listened to all of my complaining and took me to and from the biopsy.
- By SearchingforAnswers
- Posted February 27, 2009 at 9:34 am
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Hi,
I'm sorry that your doctor's office has been so unresponsive - I know how frustrating it can be! You don't need the added stress and should seriously think about finding another doctor.
Please keep us posted as to your progress. My husband has high bilirubin (may I ask what yours was?) and my daughter has low ceruloplasim.
I'm searching for solutions.
- By anxiousATL
- Posted February 27, 2009 at 10:24 am
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SearchingforAnswers,
My bilirubin stays around 2.5 (0.1 direct, 2.4 indirect). Since all my other liver tests came back clean, my doctor initially said it looks like Gilbert's Syndrome, but wanted to run some more tests, which revealed the low ceruloplasmin.
- By Scribner
- Posted February 27, 2009 at 10:59 am
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I probably shouldn't be the one to give advice....but..... Through everything my 2 children have went through in the last 6 months, I have gotten very thick skin and big shoulders. I do not ask for anything anymore - I demand (when we are waiting for test results and all). Please don't think I am hard core - I was so frustrated and hurt and frightened and felt like nobody would help my kids. It started with my son and they kept running all these tests on him and miss diagnosing him. I got sick of waiting. I became a nuscience - I started calling daily -then when they didn't return my calls I asked to be transfered to someone who "had time" to treat my son the way he deserved to be treated - after all who pays these doctors wages? We all have the right to good medical care and when they tell you a result will be in on a certain day - they should make sure that someone has a notation to contact you - being busy is not an excuse - then they shouldn't over book patients. I understand that some days are hectic - but every time we went there it was that way! I have also called every hour on the hour when I had to. Honestly - nobody should have to do that. But I did, and I will continue to do that - my kids are my life and there is NOTHING I won't do for them. Where my daughter see's her specialist now is a city of 90,000 people - they have never had a Wilson's Disease case until my 2 children went there - needless to say - they know both of my kids and myself by site and by name. So the medical care where we live is not necessarily bad - it is just that they don't know anything about the disease and should have transfered us immediately and kept us going to Mayo Clinic. My daughter just saw the Mayo specialist in January and will see him again in March -I requested that (he travels to Duluth - where our "local" liver specialists are-2 hours from where we live). Her copper is currently coming out at the level they want and we are hopeful that she will be off Syprine at her March appointment. My sons new liver is doing great (knock on wood). Like I said, I am not mean or anything, but I have had to be very persistent with the majority of both of their medical care. Once they went to Mayo Clinic they received top notch medical care - the doctors are experienced in their disease and know what to look for, what tests to run, and all necessary care they will need. I would suggest you question the knowledge of your doctor with Wilson's and if he has little to no knowledge - GET TRANSFERRED RIGHT AWAY. My son had no signs prior to July of last year and the end of August went into complete liver failure. My daughter never had and still does not have any signs of Wilson's (she has an enlarged liver - but nothing visible to the human eye) I am not trying to scare you - just stressing the importance of action. You have the right to request whatever tests you want - I would do the DNA testing for Wilson's. Also the 24 hour urine copper so they have a base to know where your copper level is at. Changing your diet habbits is a great start - you could seek advice from a dietician as well - you would be surprised at everything that has high copper. Check your city water (ask your city water department for their consumer confidence report - it will have the copper levels in your water)! No kiddin - my daughter has to drink Ice Mountain bottled water (some bottled water has copper!). But a least that is something you can get a start on while waiting for your results. In addition, it will occupy your mind for a bit so you don't worry so much. Also - you could lower your sodium intake. Start reading food labels - you would be surprised how long grocery shopping takes.... There is a lot of Ms Dash flavoring out there as well. Just some suggestions. Take the advice you like and leave the rest behind. Keep us posted. I wish you well.
- By anxiousATL
- Posted February 28, 2009 at 8:24 am
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Thanks, Scribner. It sounds like you are a great person to give advice, and your kids are fortunate to have you fighting on their behalf. I appreciate the input.
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