my daughter is believed to have wilsons please advise me!!!!!!

my daughter has had seizures since she was about 7 all the things of wilsons has 12 doctors thinking maybe its wilsons waiting on last tests .well hayley was admitted in convulsive and non-convulsive status on monday and we were released on friday they only released us because they didnt want her to catch anything in the hospital.she has very elevated liver enzymes and her cuesrulorplasmin is below normal that is what carries the copper in u making it so it doesnt accumulate so copper seems to be building in her system.we are waiting on a couple autoimmune tests to come back to fully diagnose hayley.so far though everything about wilsons disease fits with the seizures adhd learning anemia ect...it also explains why her seizures have been so hard to control.since the cannabis has made her eeg almost normal(except for the recent status at which normal liver enzymes are 30 and hays were 787)it explains so much just got a couple more things we are waiting on so we could start treatment.they are looking at everything and hay is delusional right now only mildly though it gets worse then better.anyways any ideas or help would be MORE than apreciated
thank you
cheryl and hayley

By -Melissa-
Posted August 16, 2008 at 10:32 pm
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Hi Cheryl,

I'm sorry that Hayley has been so ill. Hopefully you'll find out what is causing her to be so sick very soon. How old is Hayley?

In order to diagnose Wilson's disease, the doctors will usually check a 24 hour urine copper level, ceruloplasmin level, liver enzymes, slit lamp exam of the eyes to check for Kayser-Fleisher Rings (K-F Rings), and ultimately a liver biopsy to find out how "sick" the liver is and how much copper has accumulated.

Have they checked the urine copper levels or her eyes or done a biopsy yet? Having a low ceruloplasmin level and elevated liver enzymes alone aren't enough to diagnose WD, I don't think.

Here is a link to a great resource. It is the guidelines for diagnosis and treatment of Wilson's disease. It wouldn't hurt to maybe print it out and show it to the doctors.
http://www.aasld.org/practiceguidelines/Documents/WilsonDisease2008.pdf

Best of luck to you both. Let us know how things turn out.

~Melissa

By crose
Posted August 16, 2008 at 10:38 pm
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we are waiting on the urine tests to come back and they r doing ena and ana and anti double stranded dna just to rule out things.i am at the moment looking for an optomitrist in vancouver bc to see tomorow they want the eye exam asap.it sounds bad to say this but a proper diagnosis of anything would be such a great thing.i have a facebook page cheryl t rose and anyone can see please look if u get time.i am going to put her on a wilson acceptable diet to start according to her pathologist it wont hurt anything any ideas?

By crose
Posted August 16, 2008 at 11:31 pm
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oh sorry hayley is 15 yrs been fighting behavior stuff maybe wrong diagnosis?or not? seizures since 7 yrs and refactory seizures tried everything even looked at stem cells.well just trying to learn everything possible

By -Melissa-
Posted August 17, 2008 at 12:05 am
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It's recommended that an Ophthalmologist should be the one to look for the Kayser-Fleisher Rings, not an Optometrist. If you do see an Optometrist though, make sure that they are aware and know what they're actually looking for.

It doesn't sound bad that you said it would be good to be diagnosed, because at least you would have a diagnosis and know what you're dealing with.

By Heron
Posted August 17, 2008 at 9:33 pm
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Hi Crose,

Welcome to the group! I am sorry that you and your daughter have been through such difficult times, but hang in there. It makes perfect sense that a diagnosis will be a relief, and if the diagnosis is Wilson's then it makes even more sense, because treatments for Wilson's exist and can help most people a lot.

Now might be a good time to start reading up on the treatments, because there are important differences between them, especially for patients with neurological symptoms. Not all doctors understand WD, so Melissa's recommendation of bringing them the practice guidelines is a good one.

If you haven't already looked at http://www.wilsonsdisease.org, I highly recommend it. You can learn a lot there and find out about support, doctors who are knowledgeable, etc.

Good luck with finding out the basis of Hayley's symptoms soon. Let us know the test results if you get a chance.

By GH
Posted August 17, 2008 at 11:56 pm
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Cheryl and hayley,

Being a father of a WD patient , i can understand your difficulties.
But please do not worry , good medication is available & things will be all right.
Good luck .

By crose
Posted August 25, 2008 at 1:33 pm
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ugh no still no answers the results rnt in yet no keyser-fleisher rings but they rnt always visable i was told.her alanine aminotransferase results r still high.i was told to talk to the childrens hospital gi team.also instead of waiting 14 days to run that test again they want it done again in 5 days.so frusterated.
cheryl

By Rose5
Posted August 29, 2008 at 8:42 pm
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Well you make sure you keep on them until they come back with some sort of diagnosis -- took my daughter 5 mths before they diagnosed her with WD.
I am not saying your daughter has it but make sure they are thorough...

If we dont push, they dont listen..
That mothers instinct is a strong vibe ..

stay safe an Good Luck
Rose
xx

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