For over two years the shortage of Fabrazyme(R) made by Genzyme, the only treatment for Fabry disease currently approved in the U.S., has plagued people with our disease. The 1/3 or 1/2 doses of Fabrazyme(R) provided instead of full doses every two weeks have had an adverse impact on many people. We have had many reports of declining health compared to the improvements in health many people experienced while previously on a full doses of treatment.
Although we really have to give credit to Fabry disease for our declining health, the drug shortage has caused many of us to take a few steps backwards in our struggle with this progressive, destructive and life-threatening disease.
Continue reading…
Unfortunately, when you have a rare disease like Fabry disease we often know more about our disease than our doctors. Our disease education starts in our childhood with unexplained pain, unexplained fevers, inability to perspire, chronic abdominal pain and diarrhea, intolerance to heat and physical activity, and other early signs and symptoms. Many of us learn harder lessons as we age with early onset of hearing loss, lung disease, heart attacks, strokes and kidney failure.
Continue reading…
If you are an optimistic person like I am, things are looking up for people with our rare disorder, Fabry disease. Sometime in early to mid-2012 if everything goes well, we should finally have two treatment options available in the U.S. and an adequate supply of medication. We will continue to have access to Fabrazyme(R) made by Genzyme and we should also have access to Replagal(R) made by Shire HGT pending a fast-track FDA approval. This is great news for our community. Especially after we have seen what can go wrong with drug supply and have endured a prolonged shortage, it is critical to have more than one treatment option available. Continue reading…
In the past six years I have become accustomed to the unique aspects of nonprofit management and the challenges of earning donations from your supporters to implement critical programs. The biggest difference from my previous work in the military and the government and managing the National Fabry Disease Foundation is the way we obtain funds to provide support to our community, and why we do it?
Continue reading…
The Fabrazyme(R) shortage continues …
It seems there is little the Fabry community can do to influence a prompt favorable outcome to the prolonged drug shortage for treatment of our disease. We have had conversations with the FDA office of Orphan Drug Development and the office of Special Issues asking for help in resolving this dire situation. An increasing number of people with Fabry disease are suffering worsening symptoms and potentially irreversible adverse health impacts due to the prolonged Fabrazyme(R) shortage. Continue reading…
Well, we spend months preparing for this annual weekend family event and it just goes by so quickly. But, what great fun it was! On 16 to 18 September, 2011 we held another tremendously successful Fabry Family Weelend Camp in honor of the late Charles Kleinschmidt, our camp’s namesake. We think of how ”Chuck” embodied the spirit of living life courageously with Fabry disease and for our short weekend we had a major blast in his name putting aside the daily burden of our disease. It was another weekend to remember for many years to come.
Continue reading…
It has been over two years since the initial projection by the Genzyme Corporation, the manufacturers of Fabrazyme(R) — the only U.S. approved medication for Fabry disease, of a 6 to 8 week supply shortage due to a virus at their Allston manufacturing plant. Since not long after the shortage began, we (the National Fabry Disease Foundation) have received an increasing number of reports of seriously declining health from people with our disease.
Continue reading…
The bottom line up front is increased Fabry disease education has the potential to save and improve thousands of lives.
In many ways the Fabry disease community is very fortunate. Even though we have a very rare disorder we have gained the interest of a segment of the medical community and the pharmaceutical industry. As of this post there have been over 2600 peer reviewed medical journal articles written about Fabry disease since 1947. Our disease was discovered in 1898 and there were medical articles written before 1947 but we don’t have good data. There have been more articles written about Fabry disease than there are people in the U.S. who know they have the disease. So, lucky for us it seems that Fabry disease is interesting to the medical community. Accordingly, due to this interest and the considerable study of Fabry disease a great deal of information has been learned about the disease process, its manifestation, and its management and treatment. But as you may expect with a rare disease, the knowledge gained thus far has revealed many more questions to answer and great deal yet to learn to achieve the best possible outcomes for people with our progressive, destructive and often life-threatening disease.
Continue reading…
Greetings! As usual we always take a little longer than expected to get a new program off the ground. I believe it has something to do with having a small staff (me) and having many more “brilliant” ideas about ways to support the Fabry community than there are hours in the day. It is always crazy around here but in a great way.
Continue reading…
