Gaucher Case Study – Liam’s Story (type 1)

I ‘got’ Gaucher Disease for my 40th birthday in 1992 and, in a perverse way; it has turned out to be the best ‘birthday present’ I ever got.

Having presented to my GP in Dublin with extreme tiredness, which I attributed to a combination of heavy smoking and too-long hours working to run a struggling technology company, he advised me see a haematologist as my blood counts were ‘all over the place’. Several visits later and my still mystified haematologist referred me to Prof. Cox and his team at Addenbrooke’s. They confirmed that I had Gaucher disease, something neither I nor my haematologist had ever encountered. The ‘good news’ was that it was Type 1 and had only started to ‘kick in’ and it would another 5-10 years before it really started to impact on me by which time, a treatment, then being trialled, would most likely be available.

Twice a year since, I have been attending Addenbrooke’s for monitoring; and in 1997, they advised that I needed to start treatment as my condition was deteriorating. At this stage I was getting bone crises, my spleen was 16 times larger than normal and I could hardly go an hour without feeling exhausted. After prolonged negotiation and with the assistance of Prof Cox, we finally managed, in September 1998, to get approval from the Irish Health authorities for administration of Cererdase, the first Irish patient to do so.

I had to retire from my job as it was expected that it would take up to two years for the treatment to work, if at all. And this, as much as my medical condition, was a huge shock to my system, which I found very difficult to cope with. I also had the worry of how to provide for a family of 6 children ranging in age from 25 to 7 and my former wife. Fortunately, within 6 months, my condition had stopped worsening and within 18 months I was declared well enough to return to ‘sedentary’ work.

During that recovery time, I had something of an epiphany and vowed that I was not going to waste my reprieve chasing the corporate dollar. I set up a small consultancy with the specific aim of working just enough to pay the basics, having by now realised how little one really needs to get by (especially if you have a supportive partner; now my wonderful second wife). I worked hours that suited me, mostly on projects that interested me and only with people I liked; thus freeing me to pursue other long-held but frustrated ambitions, most of which I have gone a long way to fulfilling over the past decade. I have had time to spend with my family, including several grandchildren. I have been able to give something back through volunteering with my local Credit Union and charities for the elderly and have, through working with Habitat for Humanity, helped build houses for disadvantaged communities in such exotic places as India, Kyrgyzstan, El Salvador and Chile. My time on golf courses has increased immeasurably, though not my scores! And I have been able to indulge my passion for the outdoors through innumerable Hill-walking trips with a local club.

I still need Cerezyme infusions every fortnight but I see it as a minor but necessary inconvenience.

Life is good and I’m greedy for lots more of it. So thank you Gaucher! More particularly, thanks to the geeks of medical science and the wonderful teams at Addenbrooke’s and Dublin’s Mater and last but not least, the Gaucher Association whose support, especially in those dark distant pre-internet days, was invaluable in keeping me informed.

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Charity Profile – The Gauchers Association

Gauchers Association (small 2)

The Gauchers Association was formed in 1991, and is the only organisation in the United Kingdom that provides information and support to those with Gaucher disease, their families and health-care professionals.

The Association:

  • Supports families and carers to ensure all individuals with Gaucher disease have access to best practice in diagnosis, treatment and care.
  • Provides information on Gaucher disease and raises awareness of this rare disease.
  • Promotes research into the causes, effects and treatments of Gaucher disease.
  • Represents the interests of Gaucher patients at all times to ensure that the voice of the
  • Gaucher patient is heard.

What is Gaucher disease?

Gaucher disease is a genetically inherited, enzyme deficiency disorder. Symptoms range from mild to severe and can appear at any time, from infancy to old age. They may include anaemia, fatigue, easy bruising and a tendency to bleed. An enlarged spleen and liver with a protruding stomach may also occur as well as bone pain, demineralisation and fractures.

People with Gaucher disease lack sufficient activity levels of an enzyme called glucocerebrosidase.
This Enzyme helps the body break down worn-out cells and as a result, a fatty substance called glucocerebroside accumulates in the spleen, liver, bone marrow and sometimes in the central nervous system.

The most common form of Gaucher Disease (Type 1) affects 1 in 100,000 of the general population but 1 in 850 of Jewish (Ashkenazi) descent, although not all those who inherit the mutated genes for this disorder will show symptoms.

In the rare Neuronopathic (Types 2 and 3) Gaucher Disease, neurological symptoms occur which include an eye movement disorder (oculomotor apraxia), unsteadiness (ataxia), fits, loss of skills and a central auditory processing disorder. Children with Type 2 Gaucher disease die within one or two years of birth.

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