Dr. Stall's Wilson's Disease Experience by Robert S. Stall MD

Medications: 1989 penicillamine, tetrathiomolybdate; 1989-12/2004: Zinc Acetate (Galzin); 12/2004-present: trientine (Syprine)

My care primary doctor noticed I had a tremor in my jaw as well as my hands and that I couldn't walk a straight line. He recommended I see a neurologist. The neurologist I went to had seen Wilson's patients during his training. He diagnosed me on the spot. However, this was over a year after I started developing a tremor, and several years after I had severe depression.

I was treated with TM (tetrathiomolybdate) after a short course of penicillamine during which my neurologic symptoms worsened. This was the trigger (neurologic worsening) by which Dr. Brewer recommended I come to Ann Arbor for TM treatment rather than continue on the penicillamine. His initial studies found half of patients treated with penicillamine suffer worsened neurologic symptoms and half of those suffered irreversible neurologic symptoms.

Before TM treatment, I could not lift a cup of coffee to my mouth (or any drink, for that matter) without spilling it (I had to use straws while bending my head over to the glass rather than lifting the glass). My wife had to cut my steak when we went out for dinner. My gait was unsteady. I spoke slowly with irregular rhythm (I thought I had developed a stutter from anxiety). I had tremors in my hands, arms and jaw. I was able to drive but my leg was difficult to control when pressing down on the clutch. My writing was very slow, micrographic and tremulous, similar to a Parkinson's patient (in fact, I measured the tremor frequency through my writing and it came out to 6 Hz, approximately the same as the usual Parkinsonian tremor). I had partial KF rings which were difficult to see because of my brown eyes.

My treatment began in 1989. Most recovery occurred during the 1 year after start of treatment. I still feel like I am improving though this may be through practice and retraining in specific tasks such as sports.

Now, no one can tell anything is wrong with me (including neurologists and gastroenterologists). I am living a full life in my medical practice (though I never missed a day of work throughout my acute illness except for when I went to Ann Arbor for eight weeks for inpatient treatment). I can play baseball, basketball and golf as I did in my youth. I speak frequently to community and professional groups about geriatric medicine. Most nurses wonder how I could be a doctor with such good handwriting. After eight weeks of TM, I was transitioned to maintenance zinc acetate 50 mg tid which is the only medication for Wilson's that I am on now.

- At what age were you when you were told you had Wilson's Disease? What year?

August, 1989 at age 31

- Your recovery began in 1989, what was your mental and physical state at that time?

I had severe tremor with writing and speaking difficulty. After my diagnosis my mood was quite good. It's actually a relief when you know exactly what you're dealing with. My symptoms were improving by the time I finished my 6 week inpatient stay at the University of Michigan Medical Center. Noticeable improvement continued until about a year after my initial treatment.

- Currently, do you feel you healthy and normal? If so have you felt any side effects to the medication as well as any symptoms that Wilson's could be returning?

I do feel healthy and normal. I take my medications regularly (compliance is often a problem with Wilson’s patients)and get annual 24-hr urine testing which confirms that treatment copper is not recollecting in my body.

No one can tell I have Wilson's Disease. I do all the things I want to do, including work, sports, playing piano etc. My balance and coordination is not quite as good as it was in my youth, particularly repetitive motions (e.g. playing piano fast, repeating hand movements on neuro testing).

The main residual is with regard to my psychiatric status. Before I was diagnosed, I had a fairly clear-cut bipolar disorder, with severe depression and fairly high highs (though never self-destructive either way - no suicide attempts, didn't spend excessive money, no sexual promiscuity). Now, what happens is sometimes a fine line between the following bipolar excesses and my "normal" personal characteristics:

Obsessional - highly focused
Grandiose - ambitious
Expansive - creative
Highly reactive - irritable
Impulsive - spontaneous

I tend to generate a lot of new ideas, which a psychologist has recently termed "Multi-ideational". But then I went to MIT and I've always enjoyed finding the connections between things which generates something "new".

I am much better at handling concrete projects than "emotional noise".

- After your experience with Wilson's, do you feel your life has changed in any way?

I feel fortunate that I'm alive, have raised three healthy (they’ve been screened for Wilson’s) beautiful children (twin boys 16 yo and girl 11 yo) with my wife, able to function normally and productively, and try to help others with Wilson's and without (I'm a physician specializing in geriatrics, who my wife says finds time to help others more than my family). I’ve always had a helping mindset, but I feel more compelled in believing that life is worthwhile only when we spend it trying to help others. In Judaism, the concept is Tikun Olam – “repairing the world”.

- I understand you speak in front of audiences to share your experience, you have obviously made a difference. Did you experience intrigue you into exploring Wilson's disease or contribute to the research for Wilson's?

I have stayed active in working on ways to identify people with Wilson's, get other doctors up to speed about when they should consider the diagnosis and screen for it, maintaining my own Wilson's web site (http://www.acsu.buffalo.edu/~drstall/wilsons.html), and moderating the wilsons-list listserv for the benefit of Wilson's patients and caregivers. I am currently working with a local HMO to identify patient members who have been diagnosed with Wilson's in order to get educational and other resource information to them, as well as to ensure that they are receiving optimum treatment for their disease, that their siblings have been screened, and that appropriate genetic counseling has been done.