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


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


Emily was diagnosed when she was 13 years old but fortunately started Cerezyme soon after. She is now a beautiful young woman aged 18. Her story is an example of how enzyme replacement therapy has enabled her to fulfil her potential and contrasts with Melanie's story on the previous page. She also told her story at the Conference


I was blissfully unaware that I had Gauchers disease until just before my 14th birthday. I had never felt ill nor had I had any bone pain or other debilitating symptoms but throughout my childhood there were lots of little symptoms that my GP waved aside.

Frequent nosebleeds dominated my early years which were put down to an allergy to dust and yeast. I was told to use a special pillow and was put on a yeast free diet, both of which reduced the nosebleeds.

I also bruised easily on my legs. This was not particularly bad and don't all kids have bruises when they ride bikes or start school? And the small pin-prick red dots that appeared around my eyes when I was ill, what were they? My GP just shrugged them off.

My stature was particularly small and I looked very young compared to my peers but I assumed this was because members from both sides of my family are short. My grandmother is only 4'11''. And my rounded tummy? Well that would go with the onset of puberty wouldn't it?

All these things seemed to be feasibly explained and apart from the usual childhood illnesses I did not see my doctor often. Was this a double edged sword? If I had been more unwell perhaps Gauchers would have been detected earlier.

As I approached my 14th birthday puberty had not arrived. All my friends were growing and developing and then something happened.

Mother's Day

It was Mother's Day and I had bought a flowering plant which we had not had at home before. A few days later swellings appeared on my legs and under my feet. They came and went over the next few days. Then my fingers began to swell. Thinking it was an allergic reaction possibly to this plant, my mother took me to the doctor.

Instead of looking at my legs he examined my stomach and to my horror announced that I had a tumour and must go to the hospital.

After scooping my mother off the floor we somehow made it to the hospital where I was assigned to the chief paediatrician. After a brief examination he too announced that I had a tumour and after scooping my mother off the floor for the second time, I was whisked off for a scan.

This revealed no tumour but an enlarged spleen and liver. The next two days involved many tests and the result was that I might have something called Gauchers disease which they had heard of but never seen. I was dispatched to Great Ormond Street Hospital for more tests including the dreaded bone marrow biopsy. The strange thing was that the swellings on my legs and feet never appeared again and have remained unexplained

Enzyme Replacement Therapy

At Great Ormond Street we met Dr Ashok Vellodi who painstakingly explained Gauchers disease to us. The realisation set in that I could not just take some pills and go home. I was shocked and overwhelmed.

The next few weeks were filled with the anxiety of waiting to see if I could get funding for the treatment but Dr

Vellodi had given us the Gauchers Association telephone number and Susan Lewis became our guide. She was saying the words we wanted to hear. She told my mother that I would get the treatment I needed and that my spleen would go down and I would lead a normal life. We hardly dared believe her.

A whole new world opened up for me. Frequent trips to the hospital followed to receive the new enzyme infusion. Other visits to Great Ormond Street for consultations concerning my growth were also necessary.

Then gradually I learned with my mother to do the infusions ourselves at home although there were many times when we did not succeed and we ended up at the local hospital again!

Slowly but surely four years later I have reached the point where I administer the treatment myself .

Looking Back

Now at eighteen I can look back and remember how I felt about it all. It is a great shock to anyone to hear that they suffer from a genetic disorder but especially when they feel they have never been ill in their entire life.

I am of course grateful that I never suffered but this did make it more difficult to come to terms with. If I had been ill when I was diagnosed, I would have felt at least now I have the chance to lead a normal life. But I felt my life was already normal and it had been overturned by the diagnosis.

I felt quite alone as the disease is so rare which is why the Association is important. It is also difficult to explain to people which I found is the hardest thing about having Gauchers; seeing other people's reactions.

Once the initial shock was over there was a long and anxious wait to see if the treatment would have the desired effect. We hardly dared hope but true to everything we were told, it worked.

I slowly saw all my symptoms disappear and although there is still a long way to go in terms of growth, I no longer have nosebleeds, bruises or a rounded stomach (or if I do it's because of all the junk food I eat).

I have now reached the point where the disease has almost no effect on my life and I hardly think about it between my fortnightly infusions.

Without the support and organisation of Genzyme, Healthcare at Home, Dr Vellodi and the Gauchers Association I would not have been able to travel, go to university or lead a normal life. Indeed I am determined not to let Gauchers stop me doing anything and since diagnosis I have been on a month's trip to Israel, spent 10 weeks in the USA and have received infusions away from home fitting them in with university life.

Recent Positive Experiences

Whilst in America this summer I was assigned to Dr Greg Pastores at the New York University Hospital in Manhattan. Here for the first time I saw many Gauchers patients having their infusions together and I was amazed!

The clinic operated a kind of conveyor belt system which was very efficient. During the infusions their life carried on as normal and I even overheard someone speaking on the phone to their stockbrokers about stocks and share prices in typical New York style.

It made me realise that having Gauchers disease is no big deal and infusions should be fitted into ordinary life as much as possible. The focus there seemed very much on practical problems like how early in a relationship to tell your partner about having the disease and choices that have to be faced when it comes to having children.

I felt I was looking at the future right there and then. Everything about that Gauchers clinic was positive and uplifting.

Excitement

In conclusion, not only have my recent experiences been positive, but I am excited to read about trials for alternative therapies. I was the third person in the UK to receive the synthetic form of glucocerebrosidase (Cerezyme) which has proved to be a total success.

When I think that it was only in 1991 that enzyme replacement therapy was available at all, I feel very hopeful about the future.


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

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