Wilson's Disease Support Group - UK

Striving to promote the wellbeing of patients with Wilson's disease, their families and friends

Patients' Stories

Each year patients very kindly contribute to our newsletter by writing their stories relating to their disease diagnosis.  As these are very popular among our readers and are a good educational resource for all, a selection of these stories has been put together here to illustrate how Wilson's disease can be different in its presentation.  The youngest patient ever to be diagnosed was in vitro (done genetically) and the oldest patient reputedly in their eighties.

The stories have been grouped under certain headings, but more often than not the WD diagnosis spans more than one category.

If you would like further information about any of these patients, please contact Valerie at val@wilsonsdisease.org.uk direct.


Patients' Stories


World’s First Ever Successfully Treated Wilson’s Disease Patient

This is the story of the World's first ever successfully treated Wilson's disease patient - written in April 2017
Valerie  Wheater ©

You can download this story below.

Neurological Presentation - 22 year old female

This is the story of Verity, a patient presenting with Wilson's disease at the age of 22 ©

February 2020

I first wrote about my Wilson's disease story for the newsletter back in 2008, not long after my diagnosis and treatment. In the 12 years since, I have achieved things I would never have expected and am writing to give an update on my life with Wilson's disease.

I first developed symptoms of Wilson's disease in July 2007 aged 22, after developing tremors in my hands, dystonia in my toes, falling over, illegible handwriting and choking on water. I received a diagnosis quickly, four months after developing visible symptoms, and started treatment on penicillamine immediately. As the months progressed I got worse, having more trouble swallowing, dystonic hands and wrists and fatigue. In October I went back into hospital and switched to trientine. However, by November I could barely swallow, so was rapidly losing weight and was constantly tremoring. Eventually, after struggling to drink even sips of water, I was readmitted into hospital and given a naso-gastric feeding tube. I could only walk with the help of two people, my hands had closed up and no one could understand my speech. I was switched back on to penicillamine and it was decided to try that in combination with dimercaprol injections on the advice of Dr Gillett and Dr Walshe. This rarely used treatment was unfamiliar to all the staff. I had injections three times a day (in alternate bum cheeks), first with a local anaesthetic then with dimercaprol. I remember it being very unpleasant; it's a deep intra-muscular injection so hurts a lot. Whilst all this was going on, I had a PEG inserted in my stomach for feeding. The dietician spent months developing a copper-free feed for me, as they are non-existent commercially. This combination of dimercaprol and a copper-free feed allowed me to go home for a few days at Christmas.

In January I was moved to a neuro rehab unit and walked into my room without any help. In two months I had turned around and, although I still had the same problems, I was visibly improving every day. The arrival of me and my dimercaprol confused the new ward as much as the last, but I kept having injections three times a day. I lost a lot of weight and was green from bruising from injections. After being in rehab for six weeks, I had started eating meals with the other patients and was soon discharged on only one feed a day. After three-and-a-half months in hospital I went home, with my mum having to continue with my injections. In the end I could only handle one injection a day as I was so bruised. After two six-week courses with numerous breaks I had had 180 injections, which finished in April 2008; my PEG was removed in May. I attended a work rehabilitation service until September to build up my stamina, and had splinting on my hand to treat the dystonia.

In the 12 years since, I have remained on 500mg penicillamine twice a day. I have regular outpatient appointments and am monitored by my GP. I have moved around the UK quite a bit so am well-practised at self-managing my condition and explaining it to doctors. Luckily, I have always had flexible work and good managers; I need time off for appointments every 3 months or so. The remaining problem that affects me is difficulty with handwriting, so I have had to manage this when studying and at work.

In September 2008 I went back to university part-time to study Occupational Therapy, and there I started to pursue my interest in neurological rehabilitation borne out my experience. I had studied Psychology pre-diagnosis so have always been interested in how the brain works. I started working in research for stroke survivors, and in 2018 I completed my PhD focussed on rehabilitation for people after stroke. I now work as a university lecturer in Psychology, quite an achievement given the speech difficulties I had at my worst, which are now non-existent. I would never have ended up working in this field had it not been for Wilson's disease, which is an odd thought. I appreciate that I have used my experience to my advantage; whilst it's taken me a long time to get to where I am, I realise I am very lucky. It's hard to imagine quite how ill I was if you see me now. I've got the dimercaprol and Dr Gillett and Dr Walshe to thank for that.

Neurological Presentation - 25 yr old male

This is the story of Scott, a 30 year old male who was diagnosed with Wilson's disease at the age of 25.  It is written by his mother. ©

February 2012

Scott was born in 1982 along with his twin brother, which was a bit of a surprise as we were only expecting one baby!  They were born seven weeks early but they were healthy.  By the time the boys were five they had been joined by two little sisters.
 
Scott started to develop within the normal ranges but by three was starting to lag behind.  He had difficulty with fine motor skills and was a regular visitor to the local A & E department to have stitches (this may have been due to his inability to walk anywhere, doing everything at full speed).  At school he had a statement of special need to help him keep up.  He was a great character and had lots of friends, being popular with the children and staff alike.  He managed to leave school with a few GCSEs before going off to college.  After college he worked as a gardener for a while.  After a period of unemployment Scott got a placement working with the Broads Authority on the Norfolk Broads.  He loved this job and regularly came home covered in mud.
 
He then learnt to drive, passing his test first time, which was a huge achievement.  Once he had a car we didn't often see him as his main interest in life was spending time with his friends, including a lot of girlfriends!  Eventually, Scott got a job in a toy shop in Norwich and he did this until he became unwell.  He received a letter from his employers one day asking him to allow them to consult his doctor as they were concerned about his health. Shortly after this Scott decided that he couldn't face work anymore.
 
This was four years ago when Scott started to become very emotional if anything worried him. He became so bad that I persuaded him to visit our G.P. who started him on anti-depressants, which made no difference at all. He tried relaxation exercises and even hypnotherapy, all to no avail.  He became more and more withdrawn and following a late night car crash began to lose all interest in going out.  This was very worrying for us as he had been such a sociable lad.  Around this time I had started to notice a tremor in his hands which to begin with I put down to stress.  This gradually got worse and when we consulted our G.P., she prescribed him beta-blockers.
 
Next I noticed that his face started to look different.  I later described it to his neurologist as if his features had closed down.  His eyes were droopy and his smile was rigid and fixed, not at all natural.  We went back to the G.P. and explained that the tremors had become so bad that Scott could no longer eat without help and I was having to clean his teeth and shave him.  Scott was referred to the local hospital to see a neurologist. The neurologist was very interested and took a full medical history.  He then asked how long Scott's leg had been shaking, which was a new development that was barely visible so I was impressed that he had noticed. Scott was sent for blood tests and urine tests (which are not easy when you have a small bottle and hands that tremor) and also he was filmed so that any future changes in his movements could be noted.  We were given an appointment to return some months later.
 
After a few weeks we received a call bringing the appointment forward. The neurologist said that the copper levels in the urine and blood samples were not as expected.  Scott should do a 24 hour urine test.  He was being sent to a gastroenterologist and an eye specialist.  The neurologist explained a little about what he thought was happening to Scott and said that he was 99% sure that his condition was something called Wilson's disease.  I am sure that before diagnosis most of you, like us, had never heard of it.
 
We attended the eye clinic where Scott caused great excitement when the young doctor he saw could see Kayser Fleischer rings in his eyes.  She went to get the consultant to check her findings and he brought lots of other doctors in to look.  He explained that doctors may go through their entire careers without ever seeing these rings.  By now Scott's speech was deteriorating rapidly and his legs were becoming stiff.  The tremor in his hands made independent life impossible.
 
An appointment was made for us to see a gastroenterologist a few weeks later. While waiting for this Scott became very poorly.  His behaviour became strange and a friend found him walking one day along the middle of a main road in rush hour and so brought him home.  He kept trying to climb out of first floor windows and in despair we called in our doctor.  Scott was admitted to a psychiatric clinic for two weeks for his own safety.
 
During his time at the clinic we saw the gastroenterologist who prescribed D-penicillamine.  By the time Scott left the clinic his speech was incoherent and he drooled constantly.  On one occasion he was in a music shop and the staff called security (I think they thought Scott was drunk or drugged.)  He had only wanted to buy a CD, but he couldn't make himself understood nor could he write down what he wanted.
 
He had several falls and when he fell he couldn't get up again.  Scott couldn't stand up from a chair without help and when he tried to sit down he just fell backwards as he couldn't bend to sit.  It was as if he had forgotten how.  He became disinhibited which put him at great risk.  He wanted to hug and kiss everyone, male or female and told girls they were beautiful, even commenting on a lovely bust once.  This of course bothered people in the street.  At one time he couldn't sleep alone and I spent some weeks sleeping on his bedroom floor.  He couldn't get in the bath or shower so I had to help him which didn't bother him at all.  A great moment in his recovery came the day he said, "Get out of the bathroom; I'm going in the shower."  He had regained his modesty!
 
Eventually we managed to get social services involved and things improved in a practical way.  They organised for us to have a stair lift installed, together with an inflatable bath lift and a lift on his bed (which they raised on stilts) to help him get up.  Finally, they provided him with a comfy rise and recline armchair.  One of the awful aspects of an illness like this is the isolation.  You find out who your friends are.  Only a couple of friends stuck with Scott throughout.  We found a wonderful day centre run by Headway, who were prepared to take Scott on although they had no experience of Wilson's disease.  Scott was and is picked up in a taxi to go there three days a week.  I wrote to the local press who ran an article on our family in the hope that the publicity might draw in other families living locally affected by Wilson's. Then I managed to find the Wilson's Disease Support Group, what a lifesaver!
 
Scott has now been on penicillamine for two years. I think his neurologist is amazed at the improvement and it is certainly more than I expected.  Most of what Scott says can be understood if you listen carefully to him and the drooling has disappeared.  His legs are still stiff but he doesn't fall and we have removed all the aids that we had in the home.  His behaviour has improved to a socially acceptable level and he can now go out by himself locally.
 
We have a cafe close by and the owner has been so kind to Scott, providing a straw in his hot chocolate that he thinks I don't know about.  Scott's hands get quite stiff but the tremor, while still pronounced, is better and he can write a bit again.  He can use his computer, which has a large keyboard. Originally it also had a perspex cover with holes in to stop Scott tapping the keys he didn't want, but he doesn't need that anymore.
 
Scott is becoming more independent and is thinking of leaving home (with help).  I know that everyone's experience of Wilson's is different, but what I would say to those at the beginning of this traumatic journey is "have hope." It can get better. If you live in the UK involve social services who are able to make life easier.  And finally, talk to anyone who will listen.

February 2021 - An Update

Scott is now 38 years old and, with assistance, lives in a local authority bungalow close to my home.  He has a visit from a care company twice a day to help him to eat.  He also has a carer to help with housework and to get him out twice a week.  He couldn't manage without this help.  He is supposed to wear an alarm while at home (usually to be found anywhere other than where it should be) so he can call for help in an emergency.

His symptoms continue to make life difficult.  He has had several falls including one which resulted in a broken jaw, which couldn't be plated because of his dystonia, so it was a long painful healing.  His hands, arms and legs are very stiff.  He can pick things up and hold them, but it sometimes takes two or three attempts.  Because the movement in his hands and arms is often erratic, it is not possible for him to prepare his own meals and drinks.  As he only drinks cold drinks this is easily managed as his carers prepare them and leave them in his fridge.  They also make and leave him smoothies which he enjoys.  We have a stock of tall beakers with lids and a hole for a straw, which is a great help.

Scott does need to be fed his food, which is not very dignified but is part of his life. He has a very limited diet; he has always been selective about what he will eat but this is now exacerbated by what he is able to eat.  His swallow is rather disjointed and he chokes very easily, so stodgy things like bread and cake are a huge problem to him.  He currently lives on Readybrek laced with golden syrup and double cream and eats copious numbers of bananas also with double cream!  The plan is to get as many calories into him as possible.  Scott did try pureed meals from a delivery company once, but he didn't like them at all!   

As far as exercise is concerned, he is anxious to stay mobile and tries to get out for a walk whenever he can.  Because of the stiffness in his legs and back, he doesn't find it easy.  We got him a very smart wheeled walker, which has a seat which is great when he tires.  It took a while to find one that was suitable for his height.  He has also had some hydrotherapy which was very helpful and which he enjoyed very much.  Before the advent of Covid-19 he was attending a very good local gym, but this has had to stop and he does miss it.

Scott's speech is understandable as long as he is not overtired or stressed and medication has controlled the drooling.  Occasionally he will say something odd that reminds me of how disinhibited he used to be, but not very often.

Meanwhile, he takes a cocktail of medication to help with his symptoms, the downside of which is that some make him very drowsy.   He continues to take his penicillamine and understands how vital this is and recently he has received his first Covid vaccine.

We keep in touch with dieticians, physiotherapists and speech therapists for help and advice.  Scott amazes me with his stoicism.  He deals with all of this and doesn't complain except for how isolated his symptoms make him.  His greatest desire is to have a lady in his life other than his mother!

I wish you all good health.

Neurological Presentation - 31 yr old female

Neurological Presentation in a 31 year old female ©

I am 31 years old  and live in Scotland.  I had a very normal, happy and healthy childhood, the eldest of three sisters, and did well at school.   I went away from home to study Primary Teaching for 4 years, graduating in 2011.  In 2014, I got married.

In 2015 I had a temporary numbness in my leg that was investigated with an MRI and lumbar puncture.  It happened again in 2016 and multiple sclerosis was considered.  The numbness disappeared and the tests weren’t repeated.

During our marriage we suffered three miscarriages and in April 2017 I had a psychotic episode which resulted in me being admitted to hospital.  I was put on antipsychotic medication and was referred to the mental health team.  I saw a community psychiatric nurse weekly and was prescribed antidepressant medication and also medication to help me sleep.  I was very confused, anxious and unable to understand what was happening to me.

In July 2017 a tremor started in my left hand, then in my arm.  It also started in my legs and then my head. When walking, my balance was affected, my gait was different and I had poor coordination. The tremor in my hand made it very difficult to eat and drink and I got special utensils to help.  Writing became very difficult, as did performing everyday chores, and eventually my husband and family had to feed me.  I became increasingly worried I had Parkinson’s disease like my grandmother, as our symptoms were very similar.  I mentioned it to the consultant, but he reassured me that I hadn’t.  By now I had stopped driving as I found my leg tremor made it difficult to control the clutch.

My temporary teaching contract came to an end in April 2018, by which time I was very low emotionally.  I saw a clinical psychologist for 10 weeks and he concluded I had anxiety issues and told me to continue with CBT (Cognitive Behavioural Therapy) and medication.  My local GP practice had various locum doctors, which meant I didn’t have much continuity of care.  It seemed nobody was taking my symptoms seriously.  I tried several different private therapies; acupuncture, a private chiropractor and also energy healing sessions.  None of them made any difference but I felt I had to try something.

By June 2018 we were extremely concerned about my worsening tremor and my mental health.  I had been on mental health medication for over a year, but it didn’t seem to be helping at all and might be causing the tremor.  We asked for it to be stopped.   It made no difference to the tremor, but I was glad to be off the medication as I felt more in control and could think more clearly.  In July 2018 I was finally offered a CT scan, but the results showed no abnormality and the consultant therefore said there was no need to have an MRI.  He diagnosed me with FND (Functional Neurological Disorder), as there was no structural problem with any part of my body, brain or nerves.  It was a ‘malfunction of how the nervous system was working’ which was causing my tremor.

 

"I was warned that my symptoms could worsen"



It was suggested I look on the FND website for information and help.  I had monthly physiotherapy appointments which initially seemed to help, but it wasn’t sustained and by December 2018 I was extremely poorly. We insisted on seeing the consultant again and he asked the neurologist to refer me for an MRI scan.  By this stage, I needed assistance with everything and borrowed chairs, stools and aids from occupational therapy to help me around the house.

In January 2019 I had a video conference with the neurologist who mentioned that the symptoms I was displaying—severe tremor in hands, arms, leg and neck and loss of balance—could possibly be a condition called Wilson’s disease.  My new local GP agreed.  I was told that it was very rare, but that a blood test could be done to confirm it.  A caeruloplasmin blood test was ordered and the result was so low, the laboratory thought there must have been an error. The test was repeated with the same results.   At last I had a possible diagnosis.   I was relieved, but a bit worried at the same time.

I attended hospital again and from an MRI scan, slit lamp test, further blood tests and 24hr urine copper collection, a diagnosis of Wilson’s disease was confirmed.  It was 28 February 2019 and Dr Gillett was contacted and medication begun.  I started with 125mg of penicillamine, doubling to 250 mg two weeks later when I returned home.  I was warned that my symptoms could worsen.  Indeed over the next three months, they did.   My right arm and hand became very dystonic and unusable. The tremor in my legs was terrible.  I could hardly walk and needed two people to shower and dress me.  My speech became faint and slurred and I had swallowing issues.  I couldn’t sleep at night because my arm was so painful and I needed somebody with me at all times.  I could virtually do nothing for myself.  The local rehabilitation support team was very good, helping me every morning to get up, showered and dressed.

On 15 May I flew down to London with my husband and mother to see Drs Gillett and Shribman at their clinic in Queen Square.  Travel was difficult and I had to use a wheelchair,  but I was so glad to meet them both so they could see my condition.  I had another MRI scan and was given a botox injection in my right arm and hand to relax the dystonia and help relieve the pain.  On my return, things deteriorated further and I was admitted to my local hospital.  A gastro nose tube was fitted so that I could be fed and given my medication.   By now, I could do nothing for myself, not even push the hospital buzzer for help.  My consultant could see the extent of my deterioration and contacted Dr Gillett again, who advised acquiring  dimercaprol injections from the US.  They aren’t licensed in the UK, so we had to wait four weeks for them to arrive.

My recollection of the next 8 weeks is hazy.  I remember having a peg feed tube fitted in my stomach for my food, drink and medication.  Special low copper feeds were arranged.  I had casts made for my legs, which had also become dystonic.  My tongue became dystonic and I could no longer speak—only grunt.   My neck was affected, my mouth gaped wide open and I stared blankly into space.  I had regular suctioning in my mouth and I lost nearly 2 stone in weight.  The Dimercaprol injections were started on 22nd June and were administered into the muscle, alternating the injection sites between my upper arms and buttocks.  They were very painful!  I had 1 injection each weekday and none at the weekend.  On Saturdays and Sundays I had to give my body a rest!  The first batch lasted 6 weeks, followed by a 2 week break, then another batch was ordered for a further 6 weeks.

This routine continued until the end of October.  It seems that once the injections started, so my health gradually improved.  I had no complications or side effects from them.  I was getting more movement in my arm, which ironically became overflexed requiring a splint to correct it.  I was referred to a psychiatrist, and had help from speech and language therapists, occupational therapists, physiotherapists and dieticians.  I spent my 31st birthday in hospital.  In mid-July my husband walked away from the situation leaving me in the care of my mum, dad and two sisters, who took it in turns to stay in a flat nearby so that they could visit me every day in hospital.

The staff were amazing and my spirits and health improved as various friends and family came to see me.  My speech slowly started coming back at the end of July, the dystonia became less and my mobility improved.  I started to get out of bed to sit in a chair, then I was able to stand with a zimmer and eventually I was able to walk with a stick.  By the end of August I was eating normal food.   I was transferred to a Neuro-Rehabilitation Unit, where I remained for the month of September receiving further specialist help from the various disciplines.   I eventually went home at the beginning of October.

My dosage of penicillamine was increased to 1000mg when I started dimercaprol and I remained on this dose until December 2019.  By then I had noticed my legs were quite swollen (because of nephrotic syndrome when penicillamine causes the kidneys to lose protein), so I was changed to trientine.  I have been on this ever since and have had  no side effects or problems from changing medication.

It’s now February 2020 and I am driving again, doing voluntary work and have just started working back in local schools.   I go to a variety of classes at the leisure centre several times a week and my fitness has never been better!  My diet is varied and good; I just stay away from high copper foods and avoid alcohol altogether.  My tremor has virtually disappeared and my right hand, which received the botox, is very much improved, possibly because of all the embroidery I have been doing recently!

The separation from my husband has been heartbreaking  but I am so grateful to be here enjoying the littlest things of life.  I am also grateful for the help, care, advice and support given to me by my treating physicians and the staff at the various hospitals I attended not to mention my mum, dad and sisters who stayed by my side throughout.

With thanks to WDSG-UK for their support and for giving me the opportunity to share my story.

Hepatic presentation requiring emergency transplantation - Patient Story 1

This is the story of a 64 year old male whose health suddenly declined at the age of 60 ©

I am married with four children and six grandchildren.  My story of Wilson's disease is a little different from most.  I was only diagnosed with the disease less than four years ago.

I have always been athletic.  I am 6'4” tall and spent fifteen years playing Rugby for my local Club.  In addition, I was a keen runner and always took advantage of this pursuit whenever I went on holiday.  In March 2017, I had taken my wife to Grasmere in the Lake District for her birthday celebration.  We know the area well and I love running over the surrounding fells.  However, on this occasion I noticed that I lacked my usual energy.  I pushed myself, but it was difficult.  When I returned home to Essex, I went to see my GP to express my concerns and he ran a few tests, but nothing conclusive was found.

A few weeks later I noticed my legs were getting heavier and I had even less energy.  Then one weekend in May 2017 I was decorating the house and my legs had become so swollen I couldn't bend down.  My wife had commented that she thought my face was changing colour slightly.  I took myself down to the Out of Hours surgery at Colchester General Hospital and they took one look at me and sent me straight to A & E.  From there I was admitted, but my condition only deteriorated.  By Thursday, 15 May, I was confused and  very ill.  I have little recollection of events after that until I woke up in Addenbrooke's Hospital seven days later.

I have to rely on my medical notes and also my family's memories to fill in the gaps.  Colchester had transferred me to Addenbrooke's when they realised I was in end-stage liver failure.  Addenbrooke's believed that I was too ill to receive a transplant.  However, I am eternally grateful to Prof Watson, Dr Jacobus Prellar and Dr Jo Leithead at Addenbrooke's who pushed for me to go to the top of the transplant waiting list, because within twenty-four hours they had found me a suitable match, which they gave me straight away.

I have a wonderful family who were always at my bedside.  When I came out of a coma after my transplant, I was told that they had found that I had Wilson's disease.  I had never heard of it.  However, the doctors concentrated more on the transplant side of things and making sure that my liver wasn't rejected.  I was in hospital for six weeks fighting a fungal infection that I had contracted there, before finally being allowed to go home.  I could hardly walk as I had been off my feet for so long.

 

"I have little recollection of events after that . . ."



However, being so active beforehand I was determined to get myself fit again.  Slowly my strength returned and in May 2018, just one year later, I competed in a half marathon raising funds for the Addenbrooke's Charitable Trust.  Also around that time I decided to look more into Wilson's disease.  My sons, daughters and grandchildren have all been checked, and the next step for me was to see what support there was for patients with the disease.  I found out about the UK Support Group off the internet and made contact with them straight away.  

I am only too happy to do what I can to help others with Wilson's and also to publicise my own story to a wider audience.  I understand it is unusual for a patient to reach the age of sixty without having had previous symptoms of the disease.  I suppose looking back that I had noticed my handwriting had started to deteriorate, but other than feeling tired I can't remember any other unusual symptoms for me.

I am very happy also to put myself forward to take part in the CROWD Study being carried out by the Institute of Neurology at University College, London.  So far I have completed the online questionnaire and sent off a saliva sample for the doctors running it to process and have now been invited to take part in the second stage of the research. For those of you who are undecided as to whether or not to take part, may I encourage you to do so.  In my case, it is a small way of giving something back for all the help that has been given to me.  After all, I feel so lucky to be alive.

Hepatic presentation requiring emergency transplantation - Patient Story 2

This is the story of a 32 year old woman who presented with acute hepatic Wilson’s disease  ©

I am the daughter of a Wilson’s disease patient who was diagnosed in 1973 at the age of 9.   When I was 8, dad was contacted by the Genetics Department at the hospital where he is treated asking him if he wanted his children to take part in a genetics study they were doing into Wilson’s disease.  Happy to oblige, dad took my older sister and me to the hospital to get tested.  The results came back that we each had one faulty ATP7B gene, which as dad has Wilson’s disease, was no surprise at all!

I’d always been in excellent health.  As a child, I was very active.  I loved playing outdoors and at school I was a promising swimmer and gymnast.   I had my first child in 2011 when I was 23 and sailed through my pregnancy without any problems at all.  However, four years later I embarked on a second pregnancy and things didn’t go quite so well.  I was diagnosed with gestational diabetes and was closely monitored after that. The baby was delivered at 40 weeks and all seemed to be well again apart from my iron levels which were low and for which I was given tablets.  I had put on a lot of weight during the pregnancy and didn’t seem to be losing it afterwards, as I had done in the previous pregnancy.  In fact, by the time the baby was nine months old I was heavier than I was at the end of the pregnancy and I noticed that my ankles were ballooning up and down!  By March, when the baby was 1, I was completely exhausted and had put on a further 3½ stone, in just a couple of months.

My husband came home one Sunday evening and found me very confused.  I was lying on the bed and asking him to fetch something from out of the window that was normally kept in a cupboard downstairs!  Alarmed to say the least, he called 111 for help.  A paramedic arrived first, assessed the situation and called immediately for an ambulance.  I was taken to the Leicester Royal, where over the following two days tests including a CT scan were run and a heart monitor was fitted.  Nobody knew what was going on until my husband happened to mention to the doctor that my dad had Wilson’s disease and asked if my condition might be connected.  The doctors immediately contacted dad and asked for his medical history.  Dad told them that I had been tested 21 years earlier and he had been told that I was just a carrier.

 

"I lost over 7 stone in just a matter of weeks!"



My condition deteriorated further and in the early hours of Wednesday morning, I was transferred on blues and twos to the Queen Elizabeth Hospital, Birmingham and admitted to Critical Care.  More tests followed.  I didn’t appear to be jaundiced, but doctors visited in droves and Kayser-Fleischer rings were detected and my kidneys were found to be failing.  Dr Armstrong, the lead transplant surgeon, put me to the top of the list and within two days I had received a liver transplant.  I remained in critical care for a further 5 days and then spent 2 days on the high dependency unit.  Luckily for me the liver was a perfect match and I am on the lowest dose of anti-rejection drugs possible.  My kidneys have since recovered and I lost over 7 stone in weight in just a matter of weeks!

My diagnosis of Wilson’s disease lasted just under a week!  With a new liver, I don’t technically have it any more.  As a result of my experience, all my siblings were tested and my older sister, who was tested back in 1996 was confirmed as just being a carrier whereas my younger brother, who didn’t take part in the Study in 1996, was diagnosed with the condition.  He was immediately started on meds. but the strange thing is after liver scans, brain scans, blood tests and copper collections the doctors still can’t find any evidence of copper in him at all.   He remains on zinc while they keep looking!

Meanwhile, I am happy to report that I am back to normal again, living life to the full with my husband and our two lovely children.   I am told that recent research suggests that the incidence of WD carriers in the population is 1:40.  It’s just a shame that my mum happens to be that 1 and more to the point, that she passed her abnormal gene on to me and my brother!

Early Onset Diagnosis – Patient Story 1 – Childhood Presentation

This is a story written by a patient who was diagnosed with hepatic Wilson's disease at the age of 10  ©

Hi!  I am 23 years of age and from Lancashire.  It has been over thirteen years since I was diagnosed with Wilson's disease.  It has been very challenging, both physically and mentally, but if there is one thing I can say about WD, it is the fact that I have never really felt angry towards it.  I've known people to really despise this disease and I can understand why if their condition has been worse than mine, but I have never found myself feeling such hate towards it.  Ok, so I may have hated it a little when I first got diagnosed, but I think that was only natural.  Knowing I was sick but not knowing why or if I would ever get better, was extremely scary.

It was hard being around people and not being able to eat and drink what everyone else was eating and drinking.   I wasn't allowed to do small, simple things like put salt on my chips, or drink hot chocolate or have mushrooms on my pizza.  While my cousins were playing outside, I'd sit inside because I didn't have enough energy to play.  To make matters worse, I'd have to drink a horrible medicine to keep my liver working (great way to kill an appetite).  I guess being different from other kids wasn’t that bad but at times it did bother me.    As many people with WD know, this condition doesn't just affect the body, it affects the mind too.  It challenges you daily;  physically, mentally and emotionally.  I can go from feeling super happy and super active to feeling sad and apathetic.  I think of it as a roller coaster ride and personally, I hate roller coasters!

So how did I find out that I had Wilson’s disease?  I remember when I was 10 years old, I woke up one morning with a very sharp pain in my stomach.  I visited my doctor and was sent to my local hospital. After two days of baffling the doctors, I was then transferred to a Children’s Hospital in Manchester.  I spent a further month undergoing many tests until finally I was diagnosed with my lovely rare disease.  It came to the point where I was having four blood tests done every day.  Eventually nurses had to take blood from my feet, which was not a pleasant experience!

I never really fully understood what WD was or how I should manage it, until my late teens.  I was bad at taking my medication on time or at all.  Reading about the effects of Wilson's disease terrified me, so I never tried to learn more about it.  I didn’t know anyone else who had it and my doctors were just as clueless as I was.  I was under the care of a doctor who specialised in rare diseases but, nice as he was, he was learning about my condition at the same time as I was.  I became very unsociable and didn’t like leaving my home.  I had lost all confidence due to missing a lot of school.  I was just plain angry in my late teens and I didn't even know why.  I now know that it wasn't the fact that I was suffering from a disease, but more that I didn't understand how to manage it properly or ask for the help that I needed.  I never had hope that I would get better.  I come from a large family and amazing and supportive as they were, they never truly understood how I was feeling.  Now that I think back, I’d say that I suffered more emotionally than I did physically.

 

"I woke up one morning with a very sharp pain in my stomach"

 

As a teenager, I didn't think it was possible to have depression, but I did suffer from it.   One day when I was twenty, I had had enough of feeling the way I did.  Family and friends were great but I needed somebody who understood how I was feeling.  I went on to facebook and typed in “Wilson’s disease” in the search box and hey presto, I came across some groups and pages dedicated to my disease.  After messaging a few fellow sufferers, I came to know how they were dealing with it in their lives.  It was interesting reading their stories and comparing them with mine.  I discovered the group WDSG-UK not long after that.  It was more active than the previous groups and pages and the support that was given on it was amazing.  I had learnt more about my condition through talking to others in this Group than I had from years of talking to my doctors.

The advice, support and friendly chats from other members were just great.  I finally had hope!  I couldn't have asked for nicer friends.  Learning more about how other people had managed to control this disease and still lead a normal life was very inspiring and had made me accept my life the way it was.  I saw that I was very lucky compared to many people.  I learnt to deal with my illness better and even found the courage to talk to my doctor about my depression.  I've never considered myself a particularly religious person but I do believe everything happens for a reason.  I have been through a lot from a young age, but my experience has turned me into a stronger person today.  I appreciate the smaller things in life and thanks to modern medicine and the support of friends and family, my illness is manageable and I am grateful to it for making me the person that I am today.

Thanks for reading my story.

Early Onset Diagnosis – Patient Story 2 – Childhood Presentation

This is a story written by the father of Olivia, a Wilson's disease patient who was diagnosed in 2011 at the age of 2. ©

Our daughter, Olivia, was born in London in 2009 and two years later we went on Sabattical to South Korea.   While there, Olivia became ill one evening with breathing difficulties and we attended the A&E of our local hospital where she was diagnosed with croup.  We were told to take her to a larger hospital that same evening, which we did.  We were then told that croup was not uncommon in children and were given the choice of remaining in hospital or returning the following day.  We opted for the former even though we didn’t think her condition was serious and neither did the doctors.

Blood tests are carried out routinely in hospitals in S. Korea.   With our daughter being so young, we were not very happy but they went ahead and we were told that some of the results were abnormal.  The senior doctor asked us if our daughter had taken any Chinese herbal medicine recently and if she had any sleeping problems or eating disorders.  We said that she was otherwise very well and the doctor said that he expected the results would be normal in a few days.  But her liver test results remained the same.   

The senior padiatrician at the hospital asked a paediatric hepatologist to look at our daughter.  We stayed in hospital a few more days so that her liver levels could be monitored.   They reduced a little bit and we were told we could go, but we were unhappy and asked to see the liver specialist again.  A Dr Kim, who was a young professor, was sent to see us.  We call Dr Kim our life saver.  He said that there were various reasons why the liver levels might be elevated and that sometimes there was no obvious answer.

Olivia was in hospital for 10 days and my wife and I stayed with her throughout.  Professor Kim suspected that Olivia might have Wilson’s disease and suggested she had genetic testing and a 24 hour urine test looking for copper.  By then Olivia’s blood results were still improving, so we strongly believed that she must be fine.

Later in April 2012, we met Dr. Kim again.  He didn’t say much and kept typing on the computer.  He told us that the 24 hour urine copper test results were normal and we were very relieved.  However, he continued and said that unfortunately, the results of the genetic testing confirmed that Olivia did indeed have Wilson’s disease.   We were told not to worry and that Olivia was a very lucky girl to have been diagnosed so early.   At the time we thought it was the end of the world.  Olivia was referred to the Wilson’s Disease Special Clinic at Seoul National University Children’s Hospital.

Dr. Kim was once a trainee doctor under Professor Dr. Seo, a Wilson’s disease specialist at Seoul National University Children’s Hospital. That was the reason why he was especially interested in Olivia’s case and was keen to rule out a diagnosis of Wilson’s disease.  In July, we met Professor Seo for the first time.  By then,  Olivia was two-and-half years old.  It had been heartbreaking for us at the beginning, but we gradually learnt to accept it and were so grateful that the diagnosis had been made early.  In Seoul, all the tests were repeated including the DNA test.  Olivia’s caeruloplasmin level was very low 3.6 and Wilsons’s disease was confirmed with the detection of missense mutations.  Dr Seo had around 100 child Wilson’s disease patients in his clinic, but Olivia was his very youngest at that time.

As such an early diagnosis is rare, Dr Seo had difficulty deciding which medication Olivia should commence.  He started her on zinc acetate (Wilzin).  There were some difficult moments as she had mild vomiting and nausea which were particularly intense in the morning (she was advised to take a morning medication 1 hour before breakfast) and then another small dose in the afternoon.  Olivia complained of consistent tummy ache and the doctors closely monitored her symptoms reducing/increasing her medicine as blood tests, 24 hours urine samples and scanning her tummy on a regular basis dictated.  By the time we returned to England in August 2013, Olivia’s AST and ALT levels had returned to normal, but her pancreas levels were slightly elevated, though scans were reassuring.

Olivia is now under the Children’s Hospital at King’s College, London, where she continues to be monitored regularly.   Because of the tummy ache she experienced while taking zinc, she was transferred to penicillamine.  But that didn’t agree with her either so she was finally put on trientine and has remained on trientine ever since.   Her dose has recently been increased by one capsule a day since Olivia’s appetite has increased with age!   She still gets tummy ache from time to time after taking her meds, but she has learnt to live with it.

We are very proud of our daughter.  She never complains and takes regular monitoring of her illness through blood tests, etc. in her stride.  She also has come to terms with rationing foods that are high in copper such as chocolate and nuts, which she loves.  She will be starting secondary school next year and embarking on the next chapter of her life and meanwhile relaxes by playing musical instruments and painting, whenever she gets the chance.

Late Onset Diagnosis

This is the story of a 64 year old male whose health suddenly declined at the age of 60 ©

I am married with four children and six grandchildren.  My story of Wilson's disease is a little different from most.  I was only diagnosed with the disease less than four years ago.

I have always been athletic.  I am 6'4” tall and spent fifteen years playing Rugby for my local Club.  In addition, I was a keen runner and always took advantage of this pursuit whenever I went on holiday.  In March 2017, I had taken my wife to Grasmere in the Lake District for her birthday celebration.  We know the area well and I love running over the surrounding fells.  However, on this occasion I noticed that I lacked my usual energy.  I pushed myself, but it was difficult.  When I returned home to Essex, I went to see my GP to express my concerns and he ran a few tests, but nothing conclusive was found.

A few weeks later I noticed my legs were getting heavier and I had even less energy.  Then one weekend in May 2017 I was decorating the house and my legs had become so swollen I couldn't bend down.  My wife had commented that she thought my face was changing colour slightly.  I took myself down to the Out of Hours surgery at Colchester General Hospital and they took one look at me and sent me straight to A & E.  From there I was admitted, but my condition only deteriorated.  By Thursday, 15 May, I was confused and  very ill.  I have little recollection of events after that until I woke up in Addenbrooke's Hospital seven days later.

I have to rely on my medical notes and also my family's memories to fill in the gaps.  Colchester had transferred me to Addenbrooke's when they realised I was in end-stage liver failure.  Addenbrooke's believed that I was too ill to receive a transplant.  However, I am eternally grateful to Prof Watson, Dr Jacobus Prellar and Dr Jo Leithead at Addenbrooke's who pushed for me to go to the top of the transplant waiting list, because within twenty-four hours they had found me a suitable match, which they gave me straight away.

I have a wonderful family who were always at my bedside.  When I came out of a coma after my transplant, I was told that they had found that I had Wilson's disease.  I had never heard of it.  However, the doctors concentrated more on the transplant side of things and making sure that my liver wasn't rejected.  I was in hospital for six weeks fighting a fungal infection that I had contracted there, before finally being allowed to go home.  I could hardly walk as I had been off my feet for so long.

 

"I have little recollection of events after that . . ."



However, being so active beforehand I was determined to get myself fit again.  Slowly my strength returned and in May 2018, just one year later, I competed in a half marathon raising funds for the Addenbrooke's Charitable Trust.  Also around that time I decided to look more into Wilson's disease.  My sons, daughters and grandchildren have all been checked, and the next step for me was to see what support there was for patients with the disease.  I found out about the UK Support Group off the internet and made contact with them straight away.  

I am only too happy to do what I can to help others with Wilson's and also to publicise my own story to a wider audience.  I understand it is unusual for a patient to reach the age of sixty without having had previous symptoms of the disease.  I suppose looking back that I had noticed my handwriting had started to deteriorate, but other than feeling tired I can't remember any other unusual symptoms for me.

I am very happy also to put myself forward to take part in the CROWD Study being carried out by the Institute of Neurology at University College, London.  So far I have completed the online questionnaire and sent off a saliva sample for the doctors running it to process and have now been invited to take part in the second stage of the research. For those of you who are undecided as to whether or not to take part, may I encourage you to do so.  In my case, it is a small way of giving something back for all the help that has been given to me.  After all, I feel so lucky to be alive.

Non adherence to drugs – Patient Story 1

This is the story of a 30 year old female who stopped taking her meds a year after diagnosis: ©

I am 30 years old and have two siblings: a brother aged 32 and a sister aged 23. Wilson’s disease came to light in my family when my brother became very ill at the age of 17 (which made me 15). He began being sick every day and had jaundice and fluid in his tummy, legs and ankles. He was initially taken to Good Hope Hospital in Sutton Coldfield, but the doctors could not figure out why his liver was beginning to fail so he was transferred to the Queen Elizabeth Hospital, Birmingham. Eventually, he was diagnosed with Wilson’s disease but by this time it was too late to treat him for it and instead he was given an urgent liver transplant. The transplant was successful and he is now a healthy 32 year old living a normal life.

The diagnosis prompted doctors to refer me and my sister to undergo tests to see if we had Wilson’s disease, too. The tests were a 24 hour urine test without medication then another 24 hour urine test while taking penicillamine, the medication used to treat Wilson’s disease. We also had numerous blood tests and an eye test to look for Kayser-Fleischer rings. The results came back that my little sister was clear of Wilson’s but I had a high content of copper in my body, although no K-F rings. I was given a liver biopsy to see what condition my liver was in. The results con-firmed that I had liver cirrhosis and WD was confirmed. I was started on medication straight away (penicillamine and pyridoxine) and was advised to stick to a low salt/copper diet. I had regular check ups for about a year but then my parents split up and I went to live on my own. I was so unsettled. By the age of 21 I had lived in nine different houses. At the age of 19 I had begun to neglect all doctors’ and hospital appointments and had stopped taking my medication altogether. I believed I didn’t have WD and if I did, it wouldn’t matter because I’d been ok so far. Alt-hough I stopped taking medication, I stuck to the low salt/copper diet and drank no alcohol. At the same time I had a baby boy and continued moving around until I ended up in a permanent place in 2014. Everything seemed ok until I got to 29 and that’s when it all changed.

In August 2017 I started being sick in the mornings, then after every meal my tummy felt bloated. I thought I might have been pregnant, so I did a test and I wasn’t. My symptoms carried on getting worse and I had that much fluid in my body that I looked as if I was nine months pregnant. I visited my GP who sent me straight to A & E. I told them that I had WD but that I had neglected any medical help. It was confirmed that my liver had started to fail. I was immediately started back on penicillamine and had the dose increased every two weeks. My liver was showing no signs of getting better. The fluid in my tummy formed a bacterial infection called e-coli. I had the fluid drained three times and it just kept coming back. By this point I knew that it was all my fault and I felt that I deserved to suffer the consequences. I wanted to give up fighting to stay alive so many times: the drains were painful and I just wanted to be at home with my little boy. I had several blood transfusions, two endoscopies countless ultrasound scans and x-rays.

The hospital I was at was only a local one, so I was referred to a transplant centre in London. There I had to undergo a week of tests to see if I was mentally and physically prepared for a liver transplant. At the same time they now found K-F rings in my eyes. I was allowed home after a week but was told I would need to return every six weeks to see my consultant. Once home, I got no better. I couldn’t get out of bed. I couldn’t sit upright for any longer than five minutes. I started to get severe pains in my chest and was rushed back into hospital, where an x-ray confirmed that the fluid in my tummy had found its way into my right lung. Doctors didn’t want to drain my lung so they hoped another tummy drain would help clear the fluid, and it did.

I eventually got to go home just before Christmas 2017. My symptoms had stabilised to a certain extent but I re-mained on the transplant list. I was unable to return to work. I’m still sick a lot, have no appetite, and have tremors in my hands when I’m tired or stressed. I only leave my bed to attend hospital appointments. I’m alive, but because of my neglect I am not living. Thankfully, I am still here but I have learnt a very hard and valuable lesson. I never skip a dose now. As a teenager I thought I knew better and I’d be ok. How wrong was I?

Non adherence to drugs – Patient Story 2

This is a story written by a 32 year old patient emphasising the importance of taking medication properly ©


I was born in April 1982 and had a perfectly normal childhood. When I was eleven years old I went to see my mother’s ophthalmologist.  While doing my eye examination, the ophthalmologist found what he described as golden brown rings around my irises.  He advised my mother to take me to see a paediatrician straight away.  I attended the local Children’s Hospital and after undergoing detailed tests, I was given the diagnosis of Wilson’s disease.  Nobody in the family had ever heard of it before.  I was prescribed penicillamine and was told that I should avoid foods with a high copper content, like chocolate for example.  That was going to be difficult.  After all, I am Swiss and I love chocolate!

The rest of my adolescence was unremarkable. I was in good health and continued to be seen regularly by my physician.  However, in 2000, shortly before my 18th birthday, I was told that I needed to change doctors as I was considered too old to continue being seen at the Children’s Hospital.  My medication was changed to zinc and I was referred to a gastro-enterologist, who supported the change of my drug therapy.

Between 2002 and 2005 I went away to study at the Stage School of Music, Dance and Drama.  It was a great but hard time for me as the training was demanding and student life was fairly hectic.  The new drugs had begun to make me feel nauseous and I became less attentive in remembering either to take them or to take them at the appropriate time in relation to my eating.

Unknown to me, my copper levels had started to rise.  In 2005 I started a degree in media and communication science.  I was studying hard, working to supplement my income and I even managed to find the time to appear in a musical!  I didn’t recognise that my extreme fatigue, weight loss, trembling and deteriorating handwriting were anything other than physical exhaustion.  I was perceived by those around me as being drunk and indeed that was exactly how I felt in my head.  By 2008 I was having difficulty walking and at this point my mother insisted on taking me to hospital where the doctors immediately recognised that my medication was not working as it should and that the build up of copper in my brain had now caused me neurological damage.  Because I was diagnosed with Wilson’s disease virtually pre-symptomatically, I was unaware of the symptoms of neurological Wilson’s and therefore didn’t recognise them in myself.  My drugs were immediately changed to trientine and I’m pleased to say that they are now keeping my copper levels in check.

Unfortunately, it all came too late.  The excess copper has left me with ataxia, slurred speech, a stiffened gait and muscle cramps.  I have lost my independence and during the most difficult time of my life I was even having problems taking a shower alone.  However, I was determined to do all that I could to minimise the effects and embarked on a strenuous course of physiotherapy, speech therapy and muscle training, which I continue today.  I have had to fight hard for every improvement that I make, but I will not give up.
 
Today, my muscles are still cramped and I have good days and bad days. Everything takes me so much longer to do. However, I am living in my own apartment and am studying for a master's degree. I have just completed my thesis and am now preparing for my final exams.  I have a homecare worker one morning a week and have a student job the same afternoon. I miss my independence more than anything else, but I count myself lucky to have the support of such a loving family and wonderful friends.  I am determined never to give up and my current ambition is to be able to walk downstairs again unaided.  I know that I can do this.

And my advice to any patients reading this article is to be sure to take your tablets regularly, be seen regularly by your hospital consultant and if you experience problems with any of your medications, do seek medical advice immediately.  Thank you.