Waiting for an official diagnosis

Last Friday I was called into my doctor's office to hear that my ceruloplasmin level was low and my AST/LST levels were high. My doctor mentioned that it could be Wilson's and sent me in for a sonogram and an eye exam. My sonogram was this morning and my eye exam will be on Friday. She said she did not want to go into the "what's next" because of its complicated nature. However, she also said that even if my eye exam comes back negative she'd like to keep testing. She's pretty sure it's Wilson's and now after doing the research and comparing the notes, so am I.

I am glad I found the site with all of this great information. Any additional thoughts are welcome. I am 33 and 3/4's old and trying to figure out how badly those neurological signs have been as I've had symptoms but have not wanted to share that with anyone (the perils of a degree in psych is that you can self diagnose and thus ignore professional help ;-).

The waiting, is the worst, though...

By Margus
Posted December 9, 2008 at 7:23 am
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Yes, the waiting is the worst. Its been more than two months now since they told me it could be wilsons. And I will get the liver biopsy results on monday. Then we can start the treatment.

I hope you get through this waiting period without letting the fear and stress out of proportion...

anyway, let us know if you get any news..

best of luck,

Margus
Estonia

By -Melissa-
Posted December 9, 2008 at 8:49 am
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Glad you found this site. The WDA website has a lot of good information, if you haven't seen that site the address is: www.wilsonsdisease.org

Your doctor should really be having you complete a 24 hour urine to test for copper. If that comes back elevated then a liver biopsy is usually done to confirm the diagnosis.

I hope that your doctor is aware of any neurological problems that you've been having, so that he/she is able to piece together everything.

Also, I think its strange that your doctor won't discuss potential diagnosis' with you because of its complicated nature. You should ask questions and be an advocate for your health to get the answers and information that you want/need.

Here is a link for the Practice Guidelines for Diagnosis and Treating Wilson's Disease. It is a great source of information: http://www.aasld.org/practiceguidelines/Documents/WilsonDisease2008.pdf

I wish you the best and let us know how your tests turn out.

~Melissa

By Sili
Posted December 9, 2008 at 10:05 am
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Thanks Melissa! I did find the site and that's where I've received most of my education from in the last few days. I have a good picture of what this is and what we do next and I will be heading in to my next appointment with that in-hand so that we can formulate a game plan.

I think perhaps she didn't want to freak me out although with the advent of the internet, there's little that's not out there for one to find. I will definitely go to the pdf file you've suggested.

I will be calling the office today and requesting an earlier appointment because I really don't want to go into the holiday season without knowing one way or another.

Sili

By -Melissa-
Posted December 9, 2008 at 9:02 pm
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Thats a good game plan Sili. It's best to know for sure than to worry about not knowing.

I agree with being able to find stuff on the internet. When I was diagnosed just about 2 years ago now, when I first heard Wilson's Disease was suspected, I went online and scared the crap out of myself. I think the first link that came up showed a person in a wheelchair and I freaked! I thought to myself, "oh my gosh, am I going to end up in a wheelchair?" and that pushed me to find out and get diagnosed quicker!!

~Melissa

By Sili
Posted December 9, 2008 at 10:02 pm
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Thanks, Melissa. I am so tired today. Didn't sleep well at all last night. The waiting is killing me and people all around me tell me to stop looking up information because I haven't heard back from the doctor about an official diagnosis.

My family and close friends keep asking me how I'm doing but I don't think they want to hear that I'm worried. I wish they'd stop asking me because I don't have a response for them either and I'd like them to just let me feel the way I feel for the moment. I can prepare for the battle later, but for now, I just want it to be ok for me to stay in bed & do nothing...

By Rose5
Posted December 10, 2008 at 3:43 am
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Yep, doctors can be such inconsiderate people

welcome to the community Sili :) and good to have you here..
Keep on those doctors to MOVE IT...

Your family care about you and just checking that you are ok..

stay safe

Rose
xx

By pedsrn9999
Posted December 22, 2008 at 11:37 am
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Hi Sili...
As both a health care provider (NP) and the mom of a WD patient all I can say is that knowledge is power. When Dimitri was diagnosed with WD in August of this year I had never heard of WD before. I started doing research immediately and because of my medical background I was able to truly grasp the information I was reading. Dimitri was in the hospital the entire time from diagnosis to transplant (3 months) and I was able to not only offer him comfort as a parent but I taught him to advocate for himself. I had him request copies of his daily labs and tests and we'd go over them and then I'd coach him on what questions to ask his doctors. Before any labwork or test was done I taught him to ask what was being done and WHY. You would not believe how many times we were able to avoid unnecessary tests and labwork because of this. I discovered that his different providers didn't communicate very well and that they would order duplicate tests. This was a very difficult lesson for a "just turned 21-year old" to have to learn but I am confident now that if I were not able to be by his side 24/7 like I was in the hospital that he knows how to watch out for himself and ask the "right" questions. At first some of his providers were impatient with all our questions but when we were able to point out some things that were ordered that were not appropriate they began to show us more respect and were more willing to work with us. WD IS scary but the more you know about it the more you can advocate for yourself. Remember that doctors are not Gods and that sometimes even they are stabbing for answers in the dark. Your questions will challenge them to really think about the care they are providing to you because they will realize that they will be held accountable. I wish you the best of luck in this journey.
Shirley

By Sili
Posted December 22, 2008 at 1:26 pm
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Shirley, thank you so much for your advise. I know exactly what you mean. I was my grandmother's "case manager" while she was ill and I can tell you that I had some of the same experiences with unnecessary tests done. At one point we even had them trying to take blood from her for a test that was already performed. Because she had dementia and was mostly unresponsive and completely non-verbal, I was very protective of her and made sure that tests were done with a purpose. I know that we had some issues with nurses and doctors but personally I did not care. They were there to offer a service and if they did not know what they were doing then they'd have me to deal with. I pulled no punches when it came to that.

I've read as much as I could over the last few weeks. I have copies of the first tests done with abnormal results and I am keeping track of every test done from this point forth. I am a project manager by trade so as you could imagine, planning and documenting are my middle names! I am SO happy that I found this support group because it has been difficult to speak with family & friends. Everyone is supportive but everyone's telling me to "wait" until the results are back. I can't take a backseat to anything and my health is very important to me so I continue on and I've learned to just not talk about it as much and come here if I have some thoughts or concerns until I can get a definitive response from the doctors.

I await the last round of blood work and will be prepared with questions and a demand (for the 24 hour copper urine test) as soon as the tests come back. My plan is that if the tests come back abnormal again, I will request the urine test so that I can get that going prior to going to see a gastroenterologist who will need the test anyway.

Again, thanks so much Shirley! It brings me a bit of peace of mind to know that I'm not losing it...

blessings to you and your son,
Sili

Welcome to Inspire!

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