Today is Rare Disease Day. A day when we celebrate and call attention to those who have been diagnosed with a Rare Disease. If I am honest two years ago I would have wondered why a day for that why not just a disease day. Now almost two years into our journey with Battens Disease I understand the importance of it. We bring attention to the Rare Diseases because they are Rare and therefore not as widely known or understood which means that there are less people pushing for a treatment or cure or even that have a basic understanding of it. It also means that there are less people to fund and do the research for a treatment or cure, less people who would need the treatment or cure and therefore less money available to fund the research.
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| Supporting our stripes with our Rare Disease Warrior |
The FDA does not make easy it for drugs to make it to the market and the guidelines for drug testing for children is even more stringent. Without thinking too hard I can tell of you numerous drug trials I have heard about in the last 2 years that showed promise or had proven results in treating one of the various forms of Battens Disease but the research or the trial was stopped or paused due to lack of funding or due to the pharmaceutical company changing direction. One of those being the trial Peter was supposed to be starting at the end of March. We do not know exactly what happened only that the trial has been delayed. For how long we don’t know. Will the trial still happen, we don’t know.
The time it takes for a drug to go from an experimental drug to available at the pharmacy can be 10 – 15 years. And while we do not focus on this fact, the reality is we may not have 10-15 more years with Peter. There are protocols that exist to speed up the process or to change some of the requirements but for reasons unknown to me those protocols and or changes are not being consider when it comes to treatments and cures to rare juvenile disease. Time is not on our side. I have no idea how quickly Peters cells are dying off but I know that it is happening and it heart breaking that I cannot do anything about it.
Even more heart breaking and frustrating is that there is a drug already out there that has been proven to slow the progression in those with CLN3 . It is a drug that is already approved for treatment of another disease. But it has not been approved for Battens Disease. So for us to access it off label for Peter it would cost over $15,000 A MONTH!
This is just a small taste of why Rare Disease is important. Why advocacy is important. It is important to focus on hope and making the most of each moment, it is also important to bring to light where change needs to take place. It is important to shed to light on why Rare Disease exists.
