Dawn's Story: 'Although Gaucher disease is part of me, I will not let it rule who I am'


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Dawn was 10 years old when she was diagnosed with having Gaucher disease. After nearly 10 years of enzyme replace-ment therapy, she is planning to become a solicitor and is in her final year at university studying law. This is her story:


I was diagnosed with Type 1 Gaucher disease in April 1991, one month after my 10th birthday following extensive tests including a bone marrow test.

I was then referred to Dr Webster my consultant who diagnosed me almost immediately and who still looks after me even though he is a paediatrician. Fortunately it only took two months from the appointment with my GP to reach this conclusion. My sister Rebecca was also tested but found to be free from the disease.

I had always been a small child compared to my contemporaries and my greatest wish was to be taller than them. Strangely now at 5ft 6in, I am the tallest.

I was painfully thin with a grossly enlarged stomach giving me the outward appearance of a mal-nourished child. Day to day life was a continual struggle. Piggy back rides and days off school to recuperate were a regular feature. I was always covered in bruises, had a pale complexion and an endless sense of lethargy.

Enzyme Replacement Therapy

In March 1992 after a year of extensive tests and monitoring by Dr Webster, I was put on Ceredase aged just 10¾ years.

Being stubborn even at that tender age, I insisted on receiving a once a fortnight dose in order to preserve some sense of normality in my life.

Reading back through my diaries of that time, I admire how brave I was and how I took in my stride the three or four attempts regularly needed to fit my canula (insert the needle). I am not so tolerant now but fortunately have no need to be. I had rejected the idea of a portacath (a permanent devise surgically implanted to allow easy access to a vein).

With Ceredase I began to improve gradually but with a notable difference. Over the last 9½ years, my spleen has reduced so much it is no longer detectable and I am no longer the interesting challenge for medical students that I once was.

Frequent blood tests have continued with MRIs, bone density scans, x-rays and drawn on tummies being a normality. Dr Webster did allow me to attack his stomach once with a permanent purple marker in revenge. I don't think he'll ever forget the beautiful butterflies and trees I tattooed on him. Moments like this made life in and out of hospital more bearable.

Support

Since this time, life has gone from strength to strength. The Gauchers Association, Dr Webster and particularly my family, Mum (Rona), Dad (Graham), my sister Rebecca and grandparents (Hazel and Bruce) have been a constant support.

Through this combination of backing, half a year into treatment I was able to begin infusions at home. Fortnightly my mother would take off her teacher's hat to don that of my nurse with careful instruction on how to fit the needle from community nurse Sarah Norman and my calm professionals, Dr Robin Davies and Dr Andrew Dayani. Withstanding many a tantrum, they still came back regularly.

The instructors have long gone but Mum's role remains in a set-up that works remarkably well for me and which hopefully will continue.

In 1997 I passed 9 GCSEs with two A*s and six As despite hospital visits and the need for treatment. I overcame the bouts of tiredness and worse days (and still do) with determination to succeed. This was furthered after two year's hard work when I achieved three A grades at A level securing my place at Bristol University to study law.

I am now about to start the final year of my degree and share a flat in the centre of Bristol with friends. I go home fortnightly for my treatment. Being at university has meant another transition in my life with Gaucher disease including dealing with aches and pains on my own.

For the first time I felt ready to tell my friends about my condition and they have been totally supportive and understanding. Recently my boyfriend David came home to be with me during treatment, a huge step for me to let someone outside my immediate family into my medical world. Like the rest of my family, he was completely unfazed and continues to treat me as he did before he found out.

At University I undertake a normal student life: late nights, some alcohol, early morning lectures and a generally good time. I am deputy co-ordinator of Student Community Action (SCA) which means I co-ordinate 600 keen volunteers like myself who are eager to aid people less fortunate in many ways than us. SCA has helped me realise just how fortunate I am and I am resolved to continue this work to make a difference.

I swim regularly, am a debating team member and play the clarinet filling what little free time remains.

The Disease Has Changed My Life

Having Gaucher disease has changed my life in what I can and cannot do. On the other hand I know that it has made me more determined to succeed and be accepted for who I am.

I have recently completed a summer vacation scheme at a UK law firm and hope to undertake a training contract to become a solicitor in 2003 after graduation and a year at law school.

I am fortunate to have an excellent medical network behind me, now facilitated through Prof Cox at Addenbrooke's Hospital and a brilliant family who have made the day to day dealing with Gauchers so much easier.

Things are continually moving forwards. I am now on Cerezyme and although at times, life can be a real struggle particularly over exams, I am determined that, although Gauchers is part of me, I will not let it rule who I am and I will continue to grow as the person it has helped me become today.


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Source: Gauchers News September 2001.
© Copyright Gauchers Association 2001