What is Wilson's Disease?

I thought I would start by talking about Wilson's Disease. It has been about six months since my daughter was diagnosed with it and two years since I first heard about it. Let me tell you about that since I think it is critical. If your child has any issues with copper then PLEASE explore the idea of ruling out Wilson's. Don't wait because the sooner you catch it, the better chance your child will have of leading a normal and relatively healthy life. When you google "Wilson's Disease" there is really not too much information about patients who have it who AREN'T sick or struggling with liver disease. The reason is....most patients don't find out until they are symptomatic. Doctors told us that our child is an "enigma" of sorts. They don't really know how to treat her. That is so reassuring.....NOT!!

Wilson's Disease is caused by a mutation in the ATP7B gene. Usually it is diagnosed by laboratory testing (abnormal copper levels, low ceruloplasmin, elevated liver enzymes) and looking for a ring of copper in the eye called a "Kayser Fleischer" ring. These are good indications that you should have further testing. The genetic testing is outrageously expensive and so unfortunately, you have to do all the screening tests first. (Otherwise insurance won't cover it.) Take it from me, you don't want to skip any steps. I am still fighting for insurance coverage for my family for the genetic testing we had to do. You see....once you find out your child has this genetic mutation there is a big chance that others in your family might have it too. You definitely don't want to wait until there are symptoms. By then, your liver could be ruined and you could have copper built up in your brain. All of this could be avoided by a simple blood test! All you have to do is test serum copper. Imagine that....a simple blood test could prevent this. Then why don't they test babies? Well...that's my big crusade. I am determined to make that happen. The same way they test babies for other deficiencies they could test the copper. My mom told me today that she found out they have added the serum copper level to the newborn testing in her city. I am so excited that some progress is being made.

So...why should this matter to you all? Well, look at the statistics:
"One in 100 individuals in the general population carries one abnormal copy of the Wilson disease gene. Carriers have one normal and one abnormal gene. All (100%) children of those afflicted with Wilson disease receive at least one abnormal copy of the Wilson disease gene. One half (50%) of a carrier's children receive at least one abnormal copy of the Wilson disease gene."

In my opinion, this isn't such a "rare" disease after all. We found out that my husband and I, along with our other three kids are carriers. If any of my children marry a carrier and have children then they have a good chance of passing the mutation to their kids. It's good to know. We will definitely educate them to always be mindful and have it in the back of their minds just in case any of their children happen to have liver issues. At least they could tell their doctors that they need to screen for Wilson's.

Always trust your instincts. If you feel like there is something wrong with your child, don't just dismiss it. My daughter's laboratory testing showed something was wrong (she had extremely low copper with value of 7 when normals are 90-180, slightly elevated liver enzymes, anemia, low ceruloplasmin, among other abnormal values) and even then the doctors wanted to dismiss it. I still don't understand that. I went online right away to research and then talked with other doctors. I got a second opinion, then a third, then a fourth. FINALLY, I was blessed with a doctor that was a Genetic Specialist and Pediatric Neurologist. I definitely hit the jackpot with her! She had a lot of experience and although she was hopeful that my daughter did not have Wilson's, she still tested her for it. I still can't get over how easy it was to diagnose her in the end.....with a simple blood draw. We had done EEG's and MRI, 24-hour urine copper tests, multiple serum copper tests because the doctors did not want to believe the levels were right (that is another loooong story right there), various other laboratory testing, and even did a tissue culture from her arm to send to Europe for further testing. In the end, it was the ATP7B genetic test that proved it. The technology is there and we need to educate the doctors to use it.

My biggest frustration right now is that since my daughter is healthy the doctors pretty much don't have any answers for me. For now, I am following a low copper diet (because I researched it and mentioned it to the team of doctors), but otherwise I would be doing nothing else. There are no drugs she can take because the side-effects would not be worth it and although her liver enzymes are elevated, her urine copper is within normal limits.

I feel VERY blessed to have a healthy child and I want to keep her that way. Therefore, I am going to keep on doing what I am doing (since it seems to be working), and I will treasure every day I have with her because I know that there are many parents out there who are not so fortunate.

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Make an effort to listen to your child today....they might just surprise you.
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