Keeping the Fabry community informed
Jerry's Fabry Disease Blog was created to spread awareness about Fabry disease, a rare genetic disorder, and to share news and information about what is happening in the Fabry community. The blog is one component of the National Fabry Disease Foundation's social networking program.
"Carrier" and "Rare" – words with a sharp point among families with Fabry disease While attending a large Fabry family conference recently, some of the discussions we had were about the term "carriers" to describe females with Fabry disease and about Fabry disease being classified as a "rare" disease. Both discussions sparked strong emotions and comments about the use of these words to describe some aspects of Fabry disease. These are not new issues in our community or new reactions to the use of these words. The past experiences of many females left an deep emotional scar.
With over 3,300 peer-reviewed medical journal articles in the U.S. National Library of Medicine at the time of this post, there is a great deal of information available about the common symptoms of Fabry disease. At the same time, the literature confirms the occurrence, age of onset and severity of common Fabry disease symptoms varies greatly among individuals ... and it indicates much about Fabry disease is still not well understood. When I have health problems related to common Fabry disease symptoms, I tend to think my health problems are the natural progression of my disease as I age. Reading posts by others on the Fabry social networking sites, I think many others do the same.
In my past, I was never felt comfortable with the words “pain crisis” to describe the periodic episodes of pain and fever that overcome me from time to time. At the same time, I never gave it much thought, at least not until I decided to write about it. One of the ways the Merriam-Webster dictionary defines the word crisis is “a paroxysmal attack of pain, distress, or disordered function”. The dictionary describes paroxysmal in a medical sense as “a fit, attack, or sudden increase or recurrence of symptoms”.
Classic Fabry disease is a progressive and destructive disease. With enzyme replacement therapy (ERT) there is evidence that disease progression can be slowed down or halted and in some cases damage to organs can be reversed if treatment is started early enough. Being a progressive disease, it is important to do everything we can to stay as healthy as possible to stay strong for the fight ahead. To me, this means a lot more than just taking enzyme replacement therapy. ERT is the starting point and is the most important step to stay as healthy as possible, but there is a lot more to do.
Fabry Disease Awareness Month in April seems like a great time to restart my blog. I have not been able to find the time to blog in a very long time but I am going to make it a priority. Also, I am going to make my blog more personal to be different than other Fabry disease or National Fabry Disease Foundation information we provide. I hope writing about my experiences may help others. I turned 60 years old in November, 2014. It seems like a monumental occasion to celebrate. After all, I am a 60 year old male with classic Fabry disease. I never believed I would live this long.