Gaucher Conference 2013

Last night, my husband and I attended the yearly Gaucher Conference which was organised by The Gaucher Association. I would like to thank the dedicated members of the Committee who volunteer their time making these events a success, and the participation of the various pharmaceutical companies who produce the enzyme replacement therapy.

The evening began with some light refreshments and the opportunity of speaking to representatives from the different companies, and the much respected doctors and medical staff who work in this field and whom we've come to know well over the years. It was nice to see them all out of their white coats and usual hospital setting. Apart from it being an enjoyable evening, I find attending these conferences, meeting fellow patients, some of whom I've known for over 20 years, since the inception of The Gaucher Association, along with new patients I have not met before, highly beneficial, as if belonging to an extended family of sorts.

There were several speakers, including Doctor Rosenbaum and  Professor Zimran, who is regarded as the leading specialist in Gaucher. For the first time, a medical psychologist was invited, and gave a very interesting talk addressing issues that many patients would rather not talk about, such as denial or depression when diagnosed with a chronic disease that one is going to suffer for the rest of one's life. There is no cure for Gaucher, but there is treatment available today, and most definitely professional psychological help in accepting diagnosis and coping with the daily demands of an ongoing disease. Coming to terms with the reality of living with a chronic disease and realising one's limitations and acknowledging loss is an important part of living the best life possible with a healthy mental attitude. Initial denial is perfectly acceptable, but one needs to move on and work through the various feelings and emotions that are bound to affect anyone in such a situation. Due to time restraints, this particular lecture only scratched the surface of a topic that needs further discussion. I hope very much that the organisers of the Conference realise the importance of this subject and invite the charming medical psychologist again, who I'm sure has a lot to contribute, and I thank her for taking time out of her busy schedule to attend last night.

Being in a room full of Gaucher patients and their families, together with doctors and those in this specific field, all specialising in a rare disease is quite phenomenal. If you had explained this scenario to me when I was a youngster, I would never have dreamt it would one day be possible. Growing up with a rare disease, the doctors in England at that time knew very little, there was no information or support group, and I most certainly had never met another person with Gaucher apart from my brothers. Whatever disease you suffer from, having a comfortable forum or support group is so important to one's well-being, and knowing you are not alone.

I apologise if I didn't manage to say goodbye to everyone, but we left before the dinner was served as it was late by then, and not feeling so good, we felt it best to leave.

My latest article for The Huffington Post is now up on-line if you'd like to take a look.