My son Jeff was diagnosed about 3 years ago with Wilson's disease, a genetically
inherited degenerative disease that affects the liver and the brain. The disease
is so rare that only 1 in 30,000 people get it. Both parents have to carry the
recessive gene as well as a normal gene, and then a recessive gene from each
parent has to be passed on before a child can be affected. The possibilities
are as follows: husband-2 normal, wife-2 normal = normal child; husband-1 normal,
1 recessive and wife-2 normal = normal child, but a carrier; husband-2-normal
and wife-1 normal, 1 recessive=normal child, but a carrier; husband-1 normal,
1 recessive and wife-1 normal, 1 recessive = child with Wilson's disease. The
parents are simply carriers with no symptoms, passing the gene on to one, several
or all of their children. In other words, if both parents carry a recessive
gene, the chance of each child inheriting this disease is one in four. From
my research however, it appears that in larger families, the ratio is always
much higher with only one or two children not being affected. The liver does
not process copper like it should thereby causing a toxic accumulation of copper
in the body. If it is not diagnosed and treated in time, the patient will suffer
irreparable liver and brain damage and eventually die. There is no cure for
this disease but it is treatable, and if a person gets diagnosed before any
major symptoms appear, they can live a totally normal life by taking a zinc
supplement 3 times a day for the rest of their lives.
Unfortunately, Wilson's Disease is very rarely diagnosed until all other more common diagnoses are exhausted, and even then it is still overlooked. The list of improper diagnoses can include Hepatitis, Multiple Sclerosis, Parkinson's disease, palsy, insanity and so on and so on. The sad thing is that if the neurological symptoms continue to worsen to the point of irreparable brain damage, there's not a lot anyone can do. The initial test is so simple it is scary to think that the disease is usually not detected until well into doing its damage. Jeff had gone to a local optometrist (fortunately well-trained) to get contact lenses. During the exam the doctor recognized the telltale Kayser-Fleischer copper-colored rings around his irises. He advised Jeff to see a doctor immediately which Jeff did. After a special blood and urine test he was positively diagnosed and put on Penicillamine, a de-coppering agent with many adverse side effects for most people, Jeff included. For some reason, a new doctor wanted a second opinion after the problems with side effects, not realizing that the medication was causing the side effects. Jeff was sent to a specialist who ordered a CT Scan. The doctor decided Jeff had a brain tumor! After several agonizing weeks of waiting, the doctor informed Jeff that he didn't have a brain tumor. The entire family was relieved. Even though Wilson's Disease is incurable and we were all really upset about that, it is treatable if it is detected early enough, but a brain tumor was just plain scary! The doctor then decided that Jeff had a degenerative sinus bone disease and would need a special operation to repair it before his entire sinus structure dissolved. Once again the family was in turmoil. The main point to make here is that the original Wilson's disease diagnosis, which in itself was amazing on the part of a very astute optometrist, just sort of got lost and forgotten in the madness. I looked up Wilson's disease on the internet and Jeff didn't seem to have any of the neurological "presentations" (or symptoms) associated with Wilson's so I felt relieved knowing that the doctors had also ruled that diagnosis out. I did not do any further research into Wilson's and completely forgot all about the most common presentations of the disease. Jeff decided against doing anything about the sinus problem. After all, the doctors weren't very encouraging with multiple incorrect diagnoses. Once Jeff was off of the medication for a couple of weeks, most of the side effects cleared up anyway. Unfortunately, Jeff STILL had Wilson's disease even though he didn't have any symptoms yet, and neither we nor the doctors realized the seriousness of what the future held.
In April of 2001, Jeff switched from his employers medical plan to a well known HMO because he thought he could get better care and better doctors there. His girlfriend Betty worked there and was allowed to add Jeff to her plan. Then around June of 2001 his speech started to slur. This was right after a wisdom tooth had been pulled. Jeff saw a speech pathologist at his new HMO, and she thought maybe a nerve was damaged when the tooth was extracted or maybe he had had a small stroke. He went to many doctors and they all seemed to agree on the same diagnosis - Jeff had a speech problem! When I asked him why, he said they didn't know. At the same time he was having problems at work. His co-workers were making fun of and mimicking the way he talked. This brought Jeff's emotional level down dramatically. At this point one doctor decided that Jeff needed a psychiatric evaluation because of his speech problem and his emotional state. He told Jeff that he was imagining all of his problems and they were "all in his head." I remember Jeff calling me on the phone, crying, and telling me what the doctor said and that he knew there was something physically wrong with him. I told him to demand that the doctors take a serious look at his problems and for him NOT to give up. Jeff was missing a lot of work because his speech was getting worse and other symptoms such as bloody noses, chronic headaches and insomnia had him going back to the doctor. At this time he lost the lease on the condo he was sharing with his step-brother Danny. He moved in with his girlfriend Betty and continued to work the best he could with all his problems. Jeff continued to get sicker and missed more work. On a weekend in August he spent in the hospital for blood tests and observation because he knew something was wrong, his employer, a huge Indian gaming casino in the area, fired him for excessive absences. Jeff was devastated. It was bad enough that he was sick and didn't know what was wrong, but to be ridiculed and then fired by job he had held for 5 years and worked his way up to a good-paying position put him over the edge! His employer fought his unemployment benefits and Jeff had to appeal. He won and had until the middle of February to find a job. Jeff had no money and nowhere to go so I welcomed him with open arms to my little house on 2.5 acres on the central coast of California which I shared with his step-mother, Linda.
On his last day in Fresno on his way out of town, Jeff's Camaro was broad sided in the front by an old man in a big truck. The man said it was his fault, gave Jeff his information and left. As Jeff was trying to figure out how to get his car off the road since he had no money for a tow truck, a police officer came by to offer assistance. Jeff told him what happened and the officer asked for his ID. The next thing Jeff knew, his car was being impounded and the officer confiscated Jeff's license. It turns out Jeff had a speeding ticket about a year earlier and although he paid it, he paid late and the court doesn't send out late notices, just warrants! At this point Jeff was so demoralized, I am surprised he could even go on with these new problems added to his health problems. He was supposed to move in with a friend but just before he got here, his friend was evicted from the property his mobile home was on. It seems that the owner of the property put it there illegally. Add another obstacle to his already confusing life! Jeff is a good young man so why was this happening to him? I told him he was at the bottom and now he needed to start looking up and things would get better. Were we ever in for a reality check! Jeff did not want to impose on me and his step mother since we didn't even have a bedroom for him, but I told him he could stay until he found another place and a job. It was early September when he moved in. I watched him over the next few months try without any luck to get a job. A great position at the local nuclear power plant came up which was in Jeff's line of expertise. He told me that they did a psychological exam as well as verbal interviews. He was not chosen for the job even though his qualifications and experience were more than enough to land it. Jeff sank even deeper and again I reassured him.
Around November right after his birthday, I noticed that Jeff's walking seemed a bit labored. I asked him if he had injured himself and he said his legs just felt a little bit stiff. I suggested that he go and get a complete checkup and try to find out what was wrong with him this time. His girlfriend Betty took him to the doctor, or I should say a physician's assistant since doctors were abundant but hard to see in that HMO hospital. They ran some tests on Jeff but found nothing wrong other than his speech and sent him to the speech pathologist again to help with his slurring. I should also mention at this point that Jeff told the physician's assistant during several of his first visits that he had been previously diagnosed with Wilson's disease. Over the next two months Jeff's speech and walking deteriorated rapidly. The HMO hospital ran different tests on him with no luck. Finally at the end of January, Jeff went back to Clovis to stay with Betty. I told him to go back to the hospital and take Betty with him, and if he didn't get some answers I would kick his butt! I think Jeff is typical of a lot of young men at that age. They just assume that if a doctor says they are ok then they must be ok and they don't want to worry about it. I told Betty to make sure the PA (physician's assistant) was aware of Jeff's disabilities and how they were rapidly getting worse. This time the PA took notice, threw up her hands and said it was over her head and finally referred Jeff to a neurologist. The neurologist ordered an MRI to see if Jeff's brain was ok. Visions of brain tumor raced through my head again. The results of the MRI were not good. The doctor said there were what appeared to be plaques in the brain tissue and there was a good possibility that Jeff had Multiple Sclerosis since he had all the other symptoms as well. The neurologist conferred with a specialist who looked at the MRI and said it wasn't MS. He was pretty sure Jeff had Wilson's disease. Jeff had only told them this several times months earlier! By this time Jeff's hands were shaking with the traditional tremors of Wilson's and he was drooling constantly.
The neurologist scheduled a 24 hour urine test, an ophthalmologist appointment for the next month to verify the Kayser-Fleischer rings and a liver biopsy for sometime in a couple of months to determine if there was any liver damage. I saw Jeff deteriorate rapidly in less than a week and these guys were talking tests that could take up to a month or longer to verify the disease? I told him "months' were not an option and these tests needed to be done within a week at most so Jeff could be started on a treatment plan. Once the "Wilson's" word resurfaced, my wife Linda, and I immediately got on the internet to find out as much about the disease as we could. I was amazed by the amount of information available and the constant references to misdiagnosis and ignorance of treatment options by physicians. The neurologist finally called and confirmed that Jeff indeed had Wilson's disease. The fact that Jeff told them that 3 months prior was not mentioned. The neurologist put Jeff on 500mg of Penicillamine 3 times a day, which is the drug of choice of physicians living in the dark ages. The problem with Penicillamine is that it has extremely detrimental neurological side effects and devastating brain damage if the patient is already experiencing neurological symptoms in at least 50 percent of patients. It basically back-flushes the toxic copper out of the liver, which is a good thing, however, in doing so it sends it to the brain which just adds to the damage already there. The additional damage is generally irreversible! When I discovered this widely available fact, even to the lay person, I was understandably upset. I found a support group at wilsonsdisease.org, joined and immediately told our story to the group. Dr. Ascher Sellner sent me an email to call him. I thought it was an 'autobot' response from the group so I ignored it at first. Several people emailed me and told me Dr. Sellner was serious so I emailed him my number. He called later that day and when he heard that Jeff was on Penicillamine and how much the dosage was, he emphatically told me (and I do not quote) "if you don't want a vegetable for a son in a couple of weeks, get him off Penicillamine immediately!" I called Betty and told her to stop Jeff's medication and why. She didn't argue. Dr. Sellner told me about the best research center in the country at the University of Michigan Medical Center run by Dr. George Brewer. Dr. Brewer, along with a few other doctors in the country, is probably the foremost genetics research doctor on the planet for Wilson's disease. Dr. Sellner gave me Dr .Brewer's number and I called Dr. Brewer's office immediately. His receptionist got some pertinent information and asked if I could fax the test results. I contacted Betty who works at the HMO hospital where Jeff was seen, and she faxed me the results. I then faxed those to Dr. Brewer's office. Dr. Brewer contacted me and told me to tell Jeff's neurologist to take Jeff off the Penicillamine immediately and why, and gave me his number if there was a problem.
There was a problem! The neurologist didn't understand why I went through an internet doctor so I gave him Dr. Brewer's number. Dr. Brewer told me later that Jeff's neurologist called him and that they had "a nice educational chat!" He told me he was conducting a research study on a new medication for Wilson's disease at the University of Michigan Medical Center to get FDA approval. It is an 8 week program where a standard double-blind study is done with one of two medications to test the efficacy of the experimental medication compared to an approved FDA medication. The FDA approved medication is Trientine which is as effective as Penicillamine but without the permanent adverse side effects and brain damage. The new medication is Tetrathiomolybdate or TM. It appears to work as fast as or faster than Trientine, but seems to have less side effects. Dr. Brewer told me I should get Jeff there as soon as possible because in his case, every day that we wait, Jeff will deteriorate that much more. I could see this happening before my eyes, and it was emotionally devastating to me as well as Jeff. I called American Airlines and they gave us both a "compassion" fare which enabled multiple changes in return dates for both of us. I called my employer Barry and told him I had a medical emergency with my son and had to get him to Michigan ASAP. Barry understood and told me to do what I had to do. We were to leave Wednesday, February 13th. Since Jeff was in Clovis now with Betty, I would have to drive from my home 165 miles away on Tuesday and from there to San Francisco. When my wife Linda got home that night I told her the news. She was very upset but at the same time worried about taking care of the house and property by herself. I told her I was only going to stay for about 1 1/2 weeks, then Betty was going to fly out for a week, then Jeff's mother would drive up from Kentucky. Finally, Linda and I would fly out the last week to pick Jeff up. Little did we know how all of these plans and our lives were about to change drastically forever! This is where our journey begins...