Rare Diseases Reflection

Rare Genetic Disorders Reflective Essay

I chose Rare Genetic Disorders as my elective this year as I have a huge interest in the field of genetics and wanted to acquire the opportunity to broaden my knowledge of the subject as well as to learn more about some lesser known conditions. Prior to this module, I thoroughly enjoyed learning about genetics in Leaving Certificate Biology and the Medical Genetics module in Stage 1 Undergraduate Medicine and looked forward to doing Rare Genetic Disorders in tandem with the Genetics, Perinatal and Paediatric module this semester. In these modules I gained a basic knowledge of modes of inheritance, some well-known genetic conditions and molecular genetics. Before beginning this module I thought that the

Before this lecture I had not given much thought to the treatment of rare diseases. Ideologically I thought treating rare genetic diseases is the same as treating common diseases, there are a wide variety of drugs available and effective therapies are easily accessible to patients. I was saddened to learn that there are no cures for most rare diseases and rare diseases aren’t given much attention by research laboratories, policy makers, translational research programmes and charitable agencies. Unfortunately the amount and diversity of rare genetic diseases along with with the small numbers of patients for each disorder effectively prevents most conditions from traditional expensive drug discovery approaches. In a review published in Nature Genetics it is predicted that based on the current rate of approval of orphan drug products in Europe, there will be only approximately 75 new approvals in the next 20 years. I was disheartened to learn that even when there is a credible therapeutic opportunity for a rare disease, time-consuming regulatory commitments intended for more common disorders can often hinder the progress of developing such therapies. I found the work of the company Genzyme really remarkable as they strive to make a positive difference in the lives of patients with rare diseases and maintain a very patient focused approach. I

All the lecture topics and assignments were very interesting. I feel privileged to have some knowledge about rare diseases now as I know many of my counterparts in Ireland do not and UCD is currently the only medical school in Ireland to run such a module. My awareness of rare genetic disorders has been heightened and I now have a great interest in the topic. I really enjoyed carrying out research for both the reflective essay and the pamphlet for GPs and I learned lots about developments in the world of rare genetic diseases. In the future I think I will now feel more prepared to deal with patients with rare genetic diseases and know where to look for more information if I need it. I hopefully will be able to offer some help to my colleagues from other medical schools if they need more information about rare genetic disorders. I think from having heard about the struggles patients with rare genetic diseases face I will be better able to empathise with them, which I believe is an important quality doctors should have. I know it is important to ask your patient what concerns them about their condition and to listen to any information they can give you about their condition. Having read sections of the National Rare Disease plan I really hope it is put into action and given more attention by national healthcare policy