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...