HOW THINGS WERE: Melanie's Story
A Splenectomy Three Months After My Son's Birth


Gauchers News Contents
HOW THINGS ARE: Emily's Story Growing up with Gauchers Disease


Melanie, now aged 44, told her story of pain and hope over the past 30 years at the Association's Conference on 11 November 2001. Her brave story should be compared with how she would have been diagnosed and treated if she had been born 25 years later, as in Emily's case which is described in the next story.


I would like to take you on a long journey 30 years into the past. It is 1971 and I am a 14 year old school girl who has just returned home from school feeling poorly. Until then I had been reasonably well apart from the occasional chest infection and badly bruised knees. My mother noticed that although I was always quite thin, I seemed to have a thickish waist.

By that evening the emergency doctor had been called out who didn't like the look of things so I was admitted to hospital the following morning for various tests.

Gauchers Disease

Two weeks later I became ill again with very swollen glands. Gauchers disease was suspected and after a bone marrow test the dreaded diagnosis was confirmed. What was it? No-one had ever heard of it. 'Oh, it's a very rare illness due to an enzyme deficiency and sorry but we don't have a cure at the moment so go away and don't worry too much and we'll just have to keep an eye on you'.

My poor parents were frantic with this news. They were told that my spleen was enlarged (hence the thick waist) but it would probably not have to be removed until I reached my middle 40's and I would just have to take it easy and not overdo things.

The next four years passed by, as a teenager whose education was ruined by too many absences from school and then as a student who started college with only 4 GCSEs and learned to become a bilingual secretary.

At 18 I went out into the big wide world and landed a job in a Greek shipping office but had to leave a month later due to ill health. I decided then that I would become a temporary secretary so that way I could work when I felt well.

Pregnancy

A year later I met my husband and after four years realised that this was it. When we became engaged I wanted to break it off because of the fear that I might not be well enough to deal with a pregnancy. He told me not to worry and let things take their course so I dragged him down to the Genetic Department to see if we could have some tests. We were told that any child we had would be a carrier of Gauchers disease and there was a simple test where they remove a small piece of skin from the forearm of each partner to see the results.

I stuck out my arm immediately and had it done but just before they did my husband's, they said that the test was not always conclusive so he said he wouldn't bother. He is quite a gambling man and his attitude was that we should be prepared to take whatever was coming to us.

At 26 I gave birth after a fairly normal pregnancy to a lovely baby boy 7lb in weight. Richard was tested at six weeks old and indeed found to be a carrier but nothing more than that.

Spleen Removed

During my pregnancy it was noted that that my belly was somewhat larger than it should have been and a month after the birth I still looked about six month's pregnant. Why?

My spleen had grown so large that it was protruding out of my left side. The next month I went to see a surgeon who advised me that it would be preferable to have it removed as soon as possible. My spleen was eatingmy good platelets and if the baby kicked me in the stomach, it could rupture. In any event I was feeling terrible.

So in March 1984 I went into hospital not realising how horrific this operation was going to be. Two days after the operation when my 9lb spleen was removed, I drifted in and out of delirium with the help of frequent jabs of cyclamorph. When I finally awoke, I realised how much agony I was in and started to feel very sorry for myself.

The first thing I did was to rip off the plaster and was horrified to find that the scar reached halfway round my abdomen. The pain was so intense that I didn't feel like carrying on but I remembered my three month old son and realised that I must fight on for his sake.

Pregnant Again

Eight months later by sheer mistake I fell pregnant again. This was a big shock and not good news as my scar had not had much time to heal properly but it was obviously meant to be and after quite a healthy pregnancy I gave birth in June 1985 to an 8½lb baby girl Katy by Caesarean section.

Two major operations within 16 months and two babies in the house was not an easy task. I went downhill again very quickly. I was four stone overweight, constantly tired and irritable. It took a couple of years until both children were in nursery for me to pull myself together again.

My health became reasonable as long as I took rest when needed but I didn't realise that by removing my spleen, the illness was affecting my liver and bones. That was until I needed an operation to remove the cartilage in my right knee and an MRI scan showed that the bones in my legs were not normal. A few years later I needed to have my gall bladder removed.

Not Alone

Nearly ten years ago my mother phoned me one morning. She was very excited and told me she had seen an article in a newspaper written by someone from the Gauchers Association.

I phoned them immediately. It was like coming home and at last here was someone who could empathise with me and my problems.

Susan Lewis told me that there was to be a Conference held in Amsterdam in a few weeks where they would be discussing Gauchers disease and a new breakthrough drug. I couldn't believe it. After visiting Amsterdam and seeing these people from all over the world with the same problems, I realised that I was not alone and help was on the way. After discussing my case with a doctor there, he advised me to obtain a letter from my GP to visit Addenbrooke's Hospital in Cambridge and meet Prof Cox to be assessed for this drug. Three months later this came to fruition.

Infusions

I had my first infusion at Adden-brooke's a few weeks later. I was a bit scared but very grateful that at last something was being done. After one year visiting my local hospital in Manchester three times a week for infusions, I decided to be trained at home and after six months I began infusing myself.

Eight years on my condition has improved so much and I don't worry about infusions any more. I could probably do it blindfold.

As I am sure many other Gauchers patients have done, I went through the why me, its not fair syndrome but that's the way it has to be. However I personally have gained much from this that I probably never would have done before. I have visited a prestigious university in Cambridge, been to the House of Commons and met the best doctors in the world. I appreciate every healthy day. There are so many people I have met who have helped me and I thank them all.

Back to the Future

So, back to the future. I stand here today aged 44, happy and healthy with two teenage kids, both well and successful. I attend college twice a week where I am learning computer skills and Spanish and I try to achieve everything I want. Without the Gauchers Association and many others, none of this would have been possible. Here's to the next very successful 10 years.


Gauchers News Contents
HOW THINGS ARE: Emily's Story Growing up with Gauchers Disease

Source: Gauchers News March 2002.
© Copyright Gauchers Association 2002