Sunday, July 19, 2009

The Wilson's Disease "Bible" (Part I)

I accidentally came across a book while doing my research one night. The site I found actually had some excerpts from it and so I was able to read them and was excited about what I had found. The book is entitled: Wilson's Disease: A Clinician's Guide to Recognition, Diagnosis, and Management. The author is George J. Brewer. If you remember, I discovered him recently and found him to be a dedicated doctor who has treated hundreds of WD patients.

My husband recently found it online for a fair price and so we purchased it. Initially I was hesitant because it is a rather expensive book and it IS intended for physicians. However, considering my background in medicine AND my history with doctors and treatment for my daughter, I thought it would be an invaluable investment. This is a book I intend to keep on my bookshelf for a very long time. I just wish ALL doctors did too. It is written so plain and simple and I devoured every word the first chance I got. I read the book from cover to cover in one night. I was so excited about the information and the optimism Dr. Brewer has. He wants doctors AND patients alike to know that a Wilson's diagnosis doesn't mean the end.... it's just the beginning. It is critical that patients receive treatment right away! Asymptomatic patients can't wait for symptoms before doing something. The following information is from the book and I am so excited to share some of what I learned.

The one thing that I was impressed with about the book is the format in which it was written. It doesn't waste your time at all! The first chapter informs doctors about what chapters to read depending on the circumstances of the patient they are inquiring about. It has possible situations and the recommendations. The first chapter basically explains the cause of Wilson's and how it is acquired. It explains the clinical manifestations and ways to recognize it. The last part I was really excited about was the prognosis. Dr. Brewer explains that "it is unfortunate to have a genetic disease, but if you're going to have one, Wilson's is a good one to have, because it is so treatable." Those words have echoed in my mind ever since I read them.

The second chapter explains something that is sooooo critical. He discusses the challenge of recognizing Wilson's. Early recognition is what saves lives. It is the difference between leading a normal life or ending up with serious neurological symptoms or liver failure. Since WD only occurs in approximately 1 in 40,000 births that means that most doctors will not see a diagnosed case in their entire career. The main thing I learned from this chapter is that there are many ways WD can manifest itself. It can be neurological symptoms, hepatic, or behavioral changes. I had heard of the neurological symptoms and liver symptoms, but the behavioral changes was something I had not read much about. Among these symptoms are: difficulties in school or work, temper tantrums, anger, bouts of crying, depression, loss of inhibitions, insomnia, and hallucinations. Dr. Brewer also discusses unusual situations that may present or precede the usual clinical manifestations of WD. I can only imagine all the people who are put on medicines or even institutionalized wrongly! One thing that REALLY impressed in my mind were the various examples he gives of disasters or near disasters caused by patients being misdiagnosed. That part brought me to tears.

Chapter 3 is filled with invaluable information regarding the screening and diagnosis of Wilson's. There are many tests that are underutilized and yet others that give false positives or false negatives. It's so important for doctors to know how to interpret laboratory results they order. They need to understand that some tests are just "screening tools" while others may give more definitive answers. Since WD can present itself in so many ways that means that laboratory tests will also present itself in many different ways for various patients. He discusses the presymptomatic patient as well in this chapter. These are the most difficult to diagnose. It is important for doctors to screen ALL family members who are at high risk once a diagnosis is made.

Chapter 4 was a VERY interesting one for me to read. It talks about the anticopper drugs available to treat Wilson's. He goes over each and every one of them and discusses the pros and cons for each one. He goes over the mechanism of how each works and explains how long it takes for each to work and how they can be monitored. That is something that is critical during the "maintenance" phase of treatment. He carefully discusses how to test the patient to ensure that they are taking their medication. Noncompliance is definitely an issue, especially with asymptomatic patients since they don't realize how sick they can become. If you are not on ANY treatment and you have been diagnosed with Wilson's Disease then PLEASE take my advice and discuss treatment options with your doctor. There are various medicines and treatment options for you!
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(To be continued.....)
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