I've had some faith-promoting things happen in my lifetime. However, the events that have occurred in the past two years involving my daughter with Wilson's Disease have truly been nothing short of a miracle. I wanted to briefly summarize my journey through symptoms, diagnosis, and treatment so far. I will then discuss a book that should be in EVERY doctor's library. I think this is one of the most important entries I will ever write because Wilson's Disease is rare and my daughter's case is even more rare.
My daughter was a healthy normal child until about the age of two when I noticed symptoms such as her lips, hands, and feet turning purple when she sat in her high chair for long periods of time. She slept more than normal. It was not rare for her to have two naps a day, each consisting of at least 3-4 hours. I tried getting the doctors to pay attention but they ignored these symptoms.
When my daughter was 2 1/2 we decided to evaluate her for speech therapy. She showed a regression in speech. I had some experience with this since my older two sons also had to have speech therapy. During her evaluation the therapist suggested I see a neurologist. She noticed that my daughter was having staring spells. I had never heard of that before and it was shocking to hear those words. However, I listened to this "angel" of mine and before long I had an appointment to see a pediatric neurologist.
The pediatric neurologist we ended up seeing is the one doctor who finally made sense to me. I give him credit for saving my daughter's life. He was not a conventional doctor by any means. He believed in more untraditional medicine and some of his ideas were not respected by other doctors in our area. One of the things he did was do a thorough evaluation of my daughter's blood. He checked many things that are not traditionally tested such as copper, ceruloplasmin, and various other enzymes. He ordered an EEG and CAT scan. He also told me to put her on a special diet of milk-free food for a while and see what happens. He also suggested a liquid multi-vitamin that I purchased at a health food store. There is one other thing he told me that goes against everything I was taught in school. He told me that there was evidence to show that vaccines caused neurological damage in some kids. Could this be causing my child's neurological symptoms? We just will never know.... even to this day.
The labwork was shocking to my doctors. My daughter barely had any copper in her blood. Normal values are 90-180 and she had values that ranged from 7 to 9 after repeat testing. Her ceruloplasmin was also low and almost nonexistent. Her liver enzymes were slightly elevated. When we went for her follow-up the doctor told me that there was a chance she could have Wilson's Disease and we needed to rule it out. That was the first time I had ever heard of that. Of course, that night I googled it and found out everything I wanted to know and a lot I did not want to know.
Her first test was the EEG. The results were inconclusive. The neurologist saw "some abnormal discharges" during the test, but nothing shocking. The CAT scan also came back normal. We took my daughter to an optomologist to check her eyes for the Kayser-Fleischer rings (which are basically distinctive rings of copper that accumulate in the eyes of many Wilson's patients but cannot be seen except by an expert). The optomologist did not see anything wrong with my daughter's eyes. She basically failed all of the "screening tests" for Wilson's Disease at this point. However, the neurologist was not convinced that she was okay. He knew something was wrong and he was determined to find out what. That is what I liked about him. He did not give up. The next thing he did was order the ATP7B gene testing to rule out Wilson's for sure. However, there was a laboratory error and it was never done. He tried a second time with another lab and for some reason it just never got done.
Unfortunately, this doctor moved shortly after this vital step in the process. The next thing that happened is very hard for me to even recall. I felt so hopeless during this time. I felt like the only person who could help my daughter had left me abandoned and all alone. However, I was not going to give up that easily. I searched and searched for another pediatric neurologist. I found out that there was only one left in my city and so I tried her next. She seemed very capable the first time I saw her. I liked the fact she was also a mom and that for some reason reassured me. Little did I know that it would not matter in the long-run. I told her about the previous doctor and what he was trying to do. She told me that he was a "quack" and did not understand why he did all those "crazy" tests on all of his patients. I was shocked to hear her say that. I expressed my concerns about ruling out Wilson's. She was not convinced. She said that my daughter was fine and healthy and that I did not need to do any more testing. However, she hesitantly ordered a 24-hour urine copper. Unfortunately, it came back normal and so she was convinced that my daughter did not have Wilson's.
(This is the main reason I wanted to write this post. I want to urge all of you out there who have a child with ANY copper and/or liver issues to rule out Wilson's Disease. Although it is considered a very rare condition, I am here to tell you that MY daughter has it and it's not rare to me! Listen to your gut and don't give up.)
A year later I decided to take my daughter to the Children's Hospital in Birmingham, Alabama. That is where I was blessed with a Pediatric Neurologist who had previously worked as a Genetic Doctor. I hit the jackpot!! When I told her about my daughter and how I wanted to rule out Wilson's Disease, she only hesitated for a moment and then ordered the very critical test that eventually diagnosed my daughter........ the Wilson's Disease work-up at Mayo Clinic! It consists of the ATP7B genetic test and other specific markers. Her results came back conclusive as diagnostic for WD. Finally, we had a diagnosis!! It took us almost 2 years, but we finally found an answer to why her liver enzymes were elevated and her copper was so low. I was referred to a liver specialist and a GI doctor. The rest of the story will probably not surprise you.
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To be continued......
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