Wilson's Disease???

[Andrea Danielle]

Hi everyone,

I have just come from the BiPolar (BP) specialist apt. where we were told that our difficult child might have Wilson's Disease, a really rare disease. He suspects this because of the test results on blood work which he had us do twice to be sure. Here is the description:

"Wilson's disease causes the body to retain copper. The liver of a person who has Wilson's disease does not release copper into bile as it should. Bile is a liquid produced by the liver that helps with digestion. As the intestines absorb copper from food, the copper builds up in the liver and injures liver tissue. Eventually, the damage causes the liver to release the copper directly into the bloodstream, which carries the copper throughout the body. The copper buildup leads to damage in the kidneys, brain, and eyes. If not treated, Wilson's disease can cause severe brain damage, liver failure, and death."

He was diagnosed 6 months ago with Tourette's Syndrome and Early Onset Bi-Polar (EOBP) and those diagnoses sure fit him. Now, when I read the symptoms of Wilson's Disease I wonder if this is what it is. He has a lot of the symptoms: yellowish skin (last year), mood swings, involuntary movements (tics), migraines, depression, neuroses, personality changes, psychosis.

He will be going to see a specialist soon I hope. Now I am so freaked out about this. It is treatable with medications but I just want to know soon so that he doesn't have irreparable damage and I want to get him off Risperdal as this can damage his organs too

Has anyone else heard of this disease?

I am trying hard not to freak out until we know for sure....

Andrea

 

[Big Bad Kitty]

That is a new one on me. I am so very sorry.

Prayers for you and your son.
Hugs that you may be comforted.
A large Chicago cyber-shoulder to lean on.

There is plenty of support here. We will get through this together.

 

[flutterbee]

What's the next step in determining if this is what your child has?

The only reason I've heard of this disease is from the tv show "House". One episode had a patient with this disease and she had been diagnosis'd with schizophrenia before they figured it out.

Hugs to you. Keep us posted.

 

[Hound dog]

Andrea

I certainly hope this can be determined for your difficult child quickly so that if he does have it treatment can begin. If he does have it, be grateful it was caught early.

I'm glad you shared the info about this disease. I swear I learn more interesting facts on this board than anywhere else.

((hugs))

 

[TerryJ2]

Hi Andrea, you had me going there for a minute... but I looked it up, and my grandfather and brother have Gilbert's disease. Basically, it's a disease that makes you appear to have liver disease (and since my grandfather drank and owned a bar, we considered that a given) but in fact, it doesn't really affect anything. It's just good to know because it skews test results.

Wilson's disease is more serious and you are very, very lucky it is being caught early. I can see that you're panicking, but take a deep breath and try to be thankful. Although there are some medications you may have to cut back on, once you get the copper absorption under control, you may not need as many medications. If he does in fact have it, you may be treating the symptoms rather than the cause, which, again, makes it doubly important that you get the correct diagnosis in re: to his liver function. You are very lucky.

It will all work out. You just have to get through the testing and diagnosis. Let us know and we'll all be here for you.

 

[Marguerite]

Hang in there, don't panic. It takes time to get the diagnosis confirmed and if it is, it really is good news. Caught early, this is treatable and manageable.

In the meantime, while you're waiting to find out for sure - talk to your GP. Maybe see if you can restrict copper-containing foods while you're waiting to find out. Talk about it, see what the doctor thinks. It may be a good idea to restrict the diet, or a bad idea (because it might make it harder for a blood tests to show higher Cu levels in the blood). You really need expert advice on this one. You could do some research in the meantime, so you at least have some idea of how to plan menus when/if you have to make the changes.

And in the absolute worst case scenario - they can do liver transplants these days. But from your description, it's nowhere near this yet.

If difficult child tests positive, you should get easy child tested too.

Marg

 

[LittleDudesMom]

Andrea,

I know they are only words, but hand in there. You are very fortunate that his "anticipated" condition was caught. They will now follow through with testing, then make treatment recommendations. Only the doctor can accurately make the decision regarding the medications. If you have a concern, address it with the doctor right away.

You difficult child will be in my prayers.

Sharon

 

[timer lady]

Andrea - sounds like your doctor is on top of things - I'm glad this was caught. Keeping fingers crossed for a successful treatment.

 

[1 Day At a Time]

Andrea,

I can only imagine how overwhelming this diagnosis is for you. By a strange coincidence I watched a "medical mystery" show on TLC last week and one of the case studies was about this disease. The woman who was finally diagnosed with it had seen many physicians for many, many years in attempts to understand why she kept having such unusual symptoms. I realize that a show like this only skims the surface due to time limitations , but the narrator stated that there was treatment that was very effective at removing the excess copper and that the young woman portrayed had a complete and total recovery of her symptoms once the disease was identified and treated. I hope this holds true for your family as well.

 

[dreamer]

My son was tested for this at SHriners- of all the docs who were evaluating my son, it was the genticist who thought to test for this. (my son turned out NOT to have it, whew )

Good luck to you!

 

[Lothlorien]

I've heard the name before, but didn't know anything about it until reading this thread. If this is the case, then it's caught early and it's a blessing that's it's caught early and that he can be treated. If this is truly the cause of his symptoms and treatment can take the symptoms away, you'll have your baby back and hopefully he can get off the other medications. Hugs.

 

[TerryJ2]

I love medical mystery/educational shows. When I was a kid, Marcus Welby was one of my favorites. I still remember the episode on leprosy/Hansen's Disease and how I learned that there are so many forms of it, and most are not contagoius. (In fact, the drugs used to stop necrosis are used for blk widow and brn recluse bites.)
I wish there were more shows like this on TV instead of some of the junk that's on now.

 

[totoro]

Andrea- one step at a time. Just like every other diagnosis you have gotten, take your time research, breathe. He is getting help, thankfully you they caught this. Now you can move forward and help your little guy!

You might also check your water if you are drinking city water, our's has a high copper level. We filter our's.

Sending big hugs and lots of support.



http://www.wilsonsdisease.org/
http://www.ninds.nih.gov/disorders/wilsons/wilsons.htm

 

[Andrea Danielle]

Thanks for all of the very kind responses everyone! I have been thinking about it all weekend of course. I am so anxious to get all of the testing done. I will be on the phone with my family doctor tomorrow to get the referral to see an Optamalogist to see if he has copper coloured rings around his eyes and then I will need to get one of those pee jugs so that I can get a 24 hour pee collection. That should be funny handing to his classroom teacher on Tuesday morning

Well, even if he doesn't end up having it and it is just Tourette's Syndrome and Early Onset Bi-Polar (EOBP), we'll all have learned about a disease which can look like either of these disorders. It's worth considering.

It makes me think back to when he was 4, I took him to our family doctor and said that people were commenting that his skin looks yellow and that he gets headaches, but it was never looked into further. I even forced her to send us for blood work because I was convinced that there was something really wrong with him and of course at that time I was only hearing "might be ADHD". We got the blood work done then but she obviously wasn't looking for the right things... Thank God we have found this Early Onset Bi-Polar (EOBP) specialist who knows what to look for.

Happy Mothers day! It was a good day here, I heard "I Love You Mom" so many times and the boys didn't fight too much. It was a happy day!

Andrea

 

[Marguerite]

Andrea, can you get a copy of those blood tests done way back when? I'd pass a copy to whichever doctor is investigating Wilson's. A history of blood results as well as what's been tested, can help with a complex medical history. If ANY liver function tests were done it would be valuable. I doubt very much that they would have tested for copper, but other things might still have been within normal limits, but give a hint, with 20:20 hindsight. Alternatively, it can be reassuring to see a past history of beautifully normal results, to work out that IF this disease proves is really happening, it may have only been for a short time (meaning the damage is reversible).

The liver is an amazing organ, in the way it can regenerate. Copper can be removed in various ways.

And as you said, whatever it turns out to be, you've been part of a very thorough medical investigation that frankly, is NEVER wasted.

Marg

 

[Andrea Danielle]

Thanks Marguerite. Good idea to share the information with the doctors.
Today is the 24 hour peeing in a bottle day. difficult child is pretty excited about the idea, it makes it easier that he is a boy

Have a good day everyone,
Andrea

 

[jodyice]

My thoughts and prayers are with you. ~sending big hugs~

 

[SearchingForRainbows]

Andrea,

I'm keeping you, difficult child and the rest of your family in my thoughts and prayers... Please update when you can. Cyber hugs, WFEN