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Patients and Families
For Those Affected By Wilson Disease

Jeff's Story


The following link takes you to a website dedicated to the memory of my son, Jeffrey Dirlam. He passed away on August 30, 2002 at the young age of 25. He had Wilson's disease which is a rare, genetically inherited malfunction of the liver. It causes the liver to store excess amounts of copper until it becomes saturated and eventually, the accumulated copper starts to destroy the liver and also enters the eyes and the brain. If the brain is involved, the person with Wilson's disease will exhibit many possible presentations. Some of these include drooling, slurring of speech, problems with swallowing and problems with walking. In some instances, a person can also either manifest psychological problems with or without the other presentations. If the disease is detected early enough, tests can be performed to determine the extent of the damage if any. Then, the person simply goes on a maintenance therapy plan using some form of zinc, the most common and FDA approved is Galzin or zinc gluconate. If the person is in a more advanced stage, then he or she must start on a chelation therapy with either Trientine or Tetrathiomolybdate (TM) and the last choice would be the most popular but also the most dangerous of the three called Penicillamine. The reason Penicillamine is the most dangerous is because in approximately 50% of the patients who use this medication, their neurological condition worsens and does NOT improve over time. This can be devastating to the patient since a majority of patients seem to start showing symptoms in their late teens or early twenties when they are in the "prime of life."

Visit Jeff's Website

 


NOW AVAILABLE!

Swallow Safely How Swallowing Problems Threate The Elderly and Others

SWALLOW SAFELY
How Swallowing Problems ThreatenThe Elderly and Others.
A Caregiver’s Guide to Recognition, Treatment, and Prevention

by Roya Sayadi, Ph.D., CCC-SLP and Joel Herskowitz, M.D.

Selected Reviews:

“Don’t wait for a swallowing disaster. This book tells you how to keep a swallowing problem from becoming fatal.”

--Henry J. Heimlich, M.D.
Author of Heimlich’s Maneuvers
1984 Recipient of the Albert Lasker Public Service Award

“For people affected neurologically by disorders such as Wilson disease or Parkinson disease, swallowing problems are common and often serious. This book is written for the layperson and provides a much-needed guide for patients and their families or caregivers.”

--Carol Terry
Co-Founder, Past President & Secretary
Wilson Disease Association

Dr. Herskowitz is also the author of Twisted: The Carol Terry Story. The one act play, features Dr. Herskowitz acting as the characters of Berton Rouche, Carol Terry, and Dr. Geroge Cartwright. The play was performed at the WDA 2008 Annual Conference in Chicago.

The authors are generously donating $2.00, from the sale of each book, to the WDA. When you place your order, please state on the payment form “WDA MEMBER”.

Order Your Copy

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Common Queries and Questions

The course of liver disease in Wilson's disease stands in contrast to other forms of cirrhosis for many people. The chronic liver injury in Wilson's disease is caused by excess free copper, and the liver disease often stabilizes or even improves once the excess copper is treated with zinc acetate maintenance therapy. While some people do progress to need liver transplantation, others may actually see long-term improvement in their liver function over time. It is important to be attentive to issues such as immunizations for viral hepatitis, avoiding excess alcohol consumption, and treating complications of portal hypertension in order to give the liver its best chance to mend. Fred Askari, M.D., Ph.D. Assistant Professor Director, Wilson's Disease Center of Excellence Clinic at the University of Michigan
Generally, the brain is affected symmetrically with excess copper deposition, although symptoms can be worse on one side of the body than another. This may have to do with factors of asymmetric neurologic development, such as being right or left-handed. The copper is often seen most prominently in the basal ganglia, the area deep within the brain that coordinates movements. The face of the giant panda sign refers to a characteristic appearance of the basal ganglia in advanced Wilson's disease. This is a description of the appearance of the basal ganglia wherein one can get an impressionists image of the face of a giant panda. Fred Askari, M.D., Ph.D. Assistant Professor Director, Wilson's Disease Center of Excellence Clinic at the University of Michigan
High serum copper is not an indication of Wilson disease. Since most Wilson patients have a low ceruloplasmin they actually have a lower than normal serum copper. Ceruloplasmin is the protein that binds with copper to remove it from the body. It is the unbound (to ceruloplasmin) copper that is free to roam around the body and accumulate in organs causing Wilson disease damage. An elevated serum copper is more often due to an elevation of the level of serum ceruloplasmin since it contains ~90% of the circulating copper bound to it. Elevations of ceruloplasmin can occur with inflammation, in response to estrogen therapy and in pregnancy. Note: The exception to this is when there is severe liver injury (acute liver failure) caused by Wilson disease. This causes very large amounts of copper to be released into circulation and causes markedly elevated serum copper. When this occurs, patients are very ill and usually have jaundice (yellow eyes and skin color) and very abnormal lab results with respect to liver function and blood coagulation. - Michael Schilsky, M.D., Weill Cornell School of Medicine, WDA Medical Advisor
Hepatic: Asymptomatic hepatomegaly; Isolated splenomegaly; Persistent elevated AST, ALT; Fatty Liver; Acute hepatitis; resembling autoimmune hepatitis; cirrhosis (compensated or decompensated); fulminant hepatic failure Neurological: Movement disorders (tremor, involuntary movements); drooling, dysarthria; rigid dystonia; pseudobulbar palsy; seizures; migraine headaches; insomnia Psychiatric: Depression; neuroses; personality changes; psychosis Other symptoms: Renal abnormalities: amino-aciduria and nephrolithiasis; skeletal abnormalities: premature osteoporosis and arthritis; cardiomyopathy, dysrhythmias; pancreatitis; hypoparathyroidism; menstrual irregularities: infertility, repeated miscarriages From: A Diagnostic Tool for Physicians (3/04)
If the water is over 0.1 ppm (parts per million) (which is 0.1 mg/L), I recommend an alternative source. While 0.1 ppm isn't particularly hazardous, it indicates that significant copper is coming from somewhere, and at certain times or under certain circumstances the level might be quite a bit higher. George J. Brewer, M.D. Department of Human Genetics, University of Michigan Medical School
Yes. Since Wilson's disease often affects the liver, many Wilson’s disease patients cannot afford additional injury to the liver. Hepatitis A or Hepatitis B vaccine is as safe for Wilson's disease patients as it is for others. - H. Ascher Sellner, M.D.
If you have a question that isn't answered, please let us know and we will see if it can be added.