December 1979 through January 1980, I was on a family holiday. When I guessed there was something wrong with me. All I wanted to do was sleep, and use my bowels A LOT. I did notice my bowel movements were black in colour, but what did I, a 14-year-old girl, know?

I was misdiagnosed with Hepatitis (type A) (don’t quote me though). I do remember my mum being told to wash my dinner utensils and bedding separately from the rest of the family.

I finally ended up being diagnosed with WD age 15 in 1980, mainly due to my Nanna (Maternal Grandmother), who remembered that I had two first cousins die from this thing called “Wilson Disease” on my father’s side of the family. Not long after, my younger brother was also diagnosed with WD (unlike myself, he refuses to talk about WD). As this is my journey, I will not go into details about his.

Living in Australia, the doctors here are uneducated on this rare illness, so I figure the more people I can tell, the better.

Early Diagnosis

At age 15, I had just started my Upper School with the intention of being a Physiotherapist, until my cousin, who was one, said, “Oh, you get to play with dead bodies”. So I changed my mind and was going to be a school teacher. However, the WD had other plans. My fatigue was so bad that I was falling asleep in class. I’m not a time-waster so I ended my schooling.

I was put on the Disability Support Pension at 15 years old.

I do remember the blame game amongst my Mum and Dad. Believe it or not, I took it in stride. Until, and this memory that still haunts me, I could hear Mum out in the kitchen doing the dishes. I thought I could hear her crying. I went out to her gave her a hug, and asked, “What’s wrong?”

She replied, “It’s my fault you’re sick”.

I almost cried with her, seeing her in pain. Instead, I said to her, “I understand you think it’s your fault. I’ve heard you and Dad blaming each other. From the little I know, it took you both to make me, and I don’t blame either of you, BUT IF YOU’RE GOING TO CRY, JUST PLEASE DO IT WHERE I CAN’T SEE IT OR HEAR IT!”

Then I spent close to two years in bed with my legs raised. I had Oedema so bad that my legs began to split. All said and done, I didn’t want to remain on a Disability Pension (yes, it would have been easier, but I didn’t want easy). I wanted to LIVE.

In July 1982, I started at the Melville Rehabilitation Centre. Within two days of arrival there, I was asked if I would like to sit for Public Service Exam. HELL YES!!

I sat for it and must have passed 27th July 1982. I started working for the Australian Customs Service, doing clerical duties. During that time, I wrote a DOS Program to facilitate the movement of cargo in and out of the Port of Fremantle. It was adopted.

I don’t remember exactly when, but the Customs Service wanted Officers who were already employed. I put my hand up; I learned the law (in regards to Customs) amongst other things. In the exam, I scored a 100% mark. I was Dux of the class.

Okay, back to it, I was put on D-Pen, to which I ended up allergic to (I got med-induced Lupus), given some more meds to keep the Lupus under control (the Lupus meds had side effects every 6 months). I would need to go to Sir Charles Gardner Hospital to get my retinas checked (I won’t bore you with the detail of the type of testing, suffice to say they took 2 hours). Basically the meds to treat the Lupus had the potential to make me blind.

I was on D-Pen for a total of 13 years, by this time I was married and it was time for me to try and have a baby. It was 1987 or thereabouts.

I need to add in here, before I even considered getting pregnant; I went to my specialist and asked a whole series of questions. Two of which I remember. The first, and for to me, THE most important, was would my baby suffer from WD. The answer was “no”. The second question was would my baby, in any way, shape, or form, carry the recessive gene. The answer was “no”.

I was taken off D-Pen and put on zinc (the beginning of the end). In 1990, I gave birth to a healthy baby boy Steven. He is my pride and joy.

Neurological Wilson Disease

I was working for the Australian Customs Service, when unbeknownst to me, I was on the downhill run to getting the neurological aspect of the disease.

I was never told that my liver could become overloaded with copper, and that it could attack the brain, therefore I wasn’t aware of what to look for.

At Customs we were required to keep notebooks. I noticed my writing was getting worse. I can remember saying to myself, “You’re getting lazy, Susan,” on my last working day.

Another sign that the neuro WD was raising its head, was I started drooling, which was laughed off by both me and my then-husband. We said, “Oh, like mother, like son”.

Then came the most dangerous sign. I started rear-ending cars (usually big ones with tow balls so my car came off worse).

It was at that point neuro WD hit HARD.

I went from a working wife and mother to being bedridden, unable to talk, walk, feed, dress, or even toilet myself without assistance. I was 28.

Because I worked for the Federal Government, I had to go and see their Medical Officer, who told me to come back in 6 months. I waited the 6 months, went back and saw him, he took one look at me, and I was forced into retirement at age 30.

Now back to my life with neuro WD. I’m not tooting my own horn but I’m highly intelligent.

One of the things that I can remember was asking for a drink. To my own ears, it sounded like I was asking for a drink, when in fact my speech was unintelligible. This lead to my first PC (an old 386 DOS base). It was my only means of communication and with it, I could ask for a drink.

The loss of my speech was probably one of the hardest things for me to cope with personally.

Prior to all of this, I, my son, and my husband weren’t receiving any form of outside help.

I was in and out of hospitals. No one knew what to do with me. Here in Australia, I was a first.

With my own personal journey with neuro WD, I got Parkinson-like tremors x 1000. Every part of my body shook from the head down. The right side of my body was more affected than the left (and of course I’m right-handed).

I can remember that for no apparent reason, mainly my right arm would shoot up in the air, go behind my head, go back to my lap, and then repeat. My husband ended up sewing some Velcro on the family room chair, so that when I could join the family, I could open the Velcro, slide my hand on it, close the Velcro, which then stopped the right arm bursts.

The whole body movement was non-stop 24 hours a day, so I got no sleep.

Then came trouble with eating. It was not uncommon that more than several times around the table my food would go down the wrong hole and my husband had to perform the Heimlich manoeuvre.

I can remember my approximately 3-year-old son tying up my shoelaces (and doing a damn good job of it, for his tender age). He also used to button up my blouses.

Falls were a common occurrence.

Help From Doctors

As I said, no one knew what to do to help me. In the end, they decided if I was healthy enough, I would go on the liver transplant waiting list. I came home from the hospital with a pager. I was now on the list.

I am sure I have probably left a heap of things out that happened between the first neuro symptoms, and while I’m not a believer in crying over spilled milk, what has happened has happened. I deal with it.

I was officially put out to pasture from the Australian Customs Service, a job I had been in for close to 13 years on 17th May 1995. A job had that if I not gone neuro, I would still be in today.

I had a brain MRI done. It showed exactly what parts had been killed off by the copper, my fine and gross motor coordination. I can now at least hold a pen without it flying across the room, however, my handwriting has never recovered. I will try my best to write a note to take out, let’s say to the pharmacy, of things I need to get, but in the short two-minute drive it takes me to get there, I cannot read what I‘ve handwritten.

Which then leads me to the second part of my brain killed off, my short-term memory.

Don’t worry I will get to Dr. Schienberg and BAL.

Mrs. Wobble Goes to School

My son had just started Primary (Elementary) School and as his Mum, I wanted to walk him up to his classroom. My lack of coordination and the WD gait meant for me, I would take a step, kiss dirt (fall over), get back up, take another step, and kiss dirt again. Rinse and repeat for the entire walk up to his classroom, and then back again. My son knew me no other way. He was patient.

The thing got to me, though, was NOT ONCE did a parent ever come over and ask me if I was okay or did I need a hand. I am not the person who ever asks for pity, and if I can do it, I bloody well will. What eventually did get to me was I could see the other parents all huddled in groups whispering behind closed hands. Assuming because I couldn’t walk a straight line and combined with all of the falls every day, I was either a drunk or a drug addict.

It got me thinking if a parent can judge someone based on outside appearances alone, what sort of message would they then pass onto their own children?

It was then I put the English language to use. I wrote and self-published, Mrs. Wobble Goes to School. It was written for children aged between 5 – 10 and illustrated. I presented at a mother’s day assembly. I won’t lie, the look of all the parents who had prejudged me, and the “OH WOW” factor gave me great personal satisfaction.

However, what I gained more satisfaction from, was traveling from Primary School to Primary School, not so much telling my story, but teaching children not to judge anyone who may be in a wheelchair or anything out of the normal. My parting words to every child I had the privilege of speaking to were, “Don’t judge a book by its cover, open it, and you might be surprised at the gift that awaits you.”

The Right Doctor

One day, I was laying in bed, with nothing to do. I picked up the Yellow pages, was trying to flick through the pages, and all of a sudden four letters jumped out at me W.I.S.H. (Western Institute of Self Help). I rang them and said, “Please help. I’m dying.”

“From?” was the response.

“Wilson Disease.” To keep this part short, that is how I found the WDA in the States. I was given Dr. Schienberg’s name and number.

I can remember my now ex-Husband, ringing him, telling him I was at home with a pager for a liver transplant. The doctor said, “Take back the pager. Get your Doctor to call me”.

I did the very next day. It was from there I was put on BAL Injections, one per day for five out of the seven days. I ended up on BAL for a total of twelve months, at which point I was the best I was ever going to be.

My neuro WD then remained steady, right up until around mid-2017, when I noticed the lethargy had kicked in again and my drooling was back. Then the falls started again, anywhere up to four per day, 7 days a week, except this time I couldn’t even use furniture as a prop get myself back to my own feet.

Now, almost 25 years later, for some unknown reason, my copper levels have risen. I have been compliant with whatever medication I have been given, fortunately, while nowhere near as severe as when I first went neurological.

I am also now unable to walk without assistance. I need a walking frame, I also have an Electric Wheelchair (provided by disability services), for two reasons, one to reduce my falls, the other so I can get out and about again.

I am now unable once again to clean my own home, mow my own lawns, and cook my own meals.

40 years after I was officially diagnosed, and now 25 years after being neurological, my health started on its downward spiral. I didn’t know if I had a new illness to add or whether it was WD. To a degree, I’m thankful it was WD (better the devil you know).

I reached out to my treating doctor of 25 years ago, since he was the only one who knew of my history (WD), I didn’t know what to do. Did I need to go back on the BAL injections, up my medication, finally have that liver transplant? I was lost. My doctor of all those years ago had no idea what to do with me again.

I ended up thinking, “To hell with this! I need to do something,” so I upped my Trientine intake from 1200mg per day to 1800mg. While progress has been very slow, my WD seems to be responding. I am still falling over randomly; HOWEVER, I have gone from falling 4 times in a 24 hour period, to now one to two falls per month (hush, Susan. You will jinx yourself).

As for any distance, still something I’m unable to do (for every negative there is a positive). I am now able to do some house cleaning. I push myself to my limit, but I also know when to call it quits.

The other thing that happened, I was no longer able to clean my home, granted it used to take me time before my neurological condition went downhill, but I was able to clean it.

This time, however, as luck would have it, six months earlier I had applied to WANDIS (Western Australian National Disability Insurance Scheme), I had just been approved.

With WANDIS I suddenly had home help. A lady would come in and clean for me, still to this day I have trouble letting someone else clean for me, and whenever my body allows it, I will help out. I feel guilty just sitting and watching, I know I shouldn’t, but I do.

I had an Occupational Therapist who came into my life and made it easier for me to cope with the return of the living difficulties. She started with small things initially, like a toilet raiser, grab rails, and then we moved onto the bigger things.

The Doctor’s over here still have no idea as to treat this illness, so it was left up to me.

I decided that while it is a slow process, I would keep up my intake of Trientine.

It’s now gotten to the stage in order for me just to walk around the home, I need a walker.

Its life, s#@t happens

E&OE