Meeting Congressman Sam Farr - Twenty First Century Cures Act

     

One of my enduring missions is to increase the awareness of GNE myopathy worldwide amongst the general public, governments, and non-governmental organizations. In keeping with this mission, I seek out opportunities through which I can educate, inform, and increase the awareness of our rare disease.

This week I was quite fortunate to meet with the Honorable Sam Farr, a Congressman of my district, the 20th. Congressional district of California.   He is very well liked by his constituents and has been serving my district since 1993. My intention to meet Representative Farr has been long in the making, since 2012 I have wanted to discuss with him the challenges of patients with rare diseases, and to ask for him and his colleagues to support to legislation that would help speed up therapies and treatment for our patient population.

In 2012, on one of my visits to the National Institutes of Health (NIH), a fellow gne-myopathy patient (Debbie Scott) and I arranged to meet with Rep. Farr at his office in Washington D.C. Unfortunately, the Congressman was not able to meet with us at that time as he was called upon to defend a bill in the Congress. However, we were able to meet with his Chief of Staff with whom we discussed rare diseases specifically, gne-myopathy. We also asked for his office to support increased funding for the National Institutes of Health.

As a side note, about 25 years ago my husband unexpectedly passed away, and I was left to raise my two very young children. I had no family living close to me, and as my husband was the one dealing with the financial aspect of our lives, I felt quite lost as to how to manage the financial maze, not to mention the emotional turmoil that resulted from this profound loss. I was dealing with. Fortunately, soon after my husband died, I received a call from our Congressman's wife (Shary),who requested to meet with me. I did not know who she was at the time and why she had volunteered to help me.

Nevertheless, I met with her. I remembered that she poured over all my financial documents. After she assessed all the information I presented to her, she advised me on how to manage my finances, and, then further assisted me in filing all necessary documents. Over the years, I have often reflected on her kindness, and I undoubtedly believe without her help I would have experienced far heavier financial difficulties.

Both Rep. Farr and his staff were very welcoming and attentive to my needs at this meeting. I am very encouraged to see their broad awareness and understanding of the various challenges facing patients with rare diseases. We discussed the 21st. Century Cures Act which was passed overwhelmingly by the Congress, and is now before the Senate Should the Senate pass the 21st. Century Cures Act it would be a win-win for rare diseases and would provide increased funding for the NIH.

There are several important parts of this bill for that would benefit the rare disease community including : (1) enhancement of the drug development process by including patient perspectives....," and, (2) the increase for funding to the National Institutes of Health.

I kindly requested Rep. Farr for his support to this bill, and other rare diseases legislation that may come before the congress. In addition, I asked Rep. Farr to consider joining the Rare Disease Caucus.

I was surprised to learn that Rep. Farr introduced a bill titled "Exercise And Fitness For All Act" which included very important provisions for persons with disabilities. These provisions included (1) "to encourage exercise and fitness service providers to provide accessible exercise and fitness equipment for individuals with disabilities; and (2) to provide guidance about the requirements necessary to ensure that such exercise and fitness equipment is accessible to, and usable by, individuals with disabilities." My hope is that this bill will return for a vote and will be passed, as exercise is very crucial for the health and well being of those in the rare diseases community.

*I would like to express my sincere gratitude to Rep. Farr for meeting with me and for listening to my story, the challenges that rare disease patients are  living with. Also, I would like to thank Mr. A.Russel and his staff from the Everylife Foundation for their guidance and coordination for this meeting.

Link for the 21st Century Cures Act

https://www.congress.gov/bill/114th-congress/house-bill/6

Link for Exercise and Fitness for all Act
https://www.govtrack.us/congress/bills/113/hr5541/text

Addendum:  I am pleased that the genetic disease gne-myopathy is getting more attention.  Another site has posted my family's journey with this disease.  Here is the link:
 http://www.raredr.com/news/the-long-journey-to-a-gnem-diagnosis

For more information on gne-myopathy, including resources, support groups and research, please visit: http://gne-myopathy.org/

Health News Digest Article On My Family's Medical Journey

This is brief article on my family's attempt in getting a definitive diagnosis. I am always thinking of ways we can increase the awareness of gne-myopathy..  In addition to this article, we (gne-myopathy.org) have been contacting doctors, researchers, and organizations worldwide to inform them about gne-myopathy, and requesting them to share a list of gne-myopathy resources with their patients.   I would especially like to thank all the patients, and others who have  helped with the translations of the "signs and symptoms" flyer. These flyers have been very useful to those who have difficulty understanding English.  These flyers can be downloaded from  http://gne-myopathy.org/

(HealthNewsDigest.com) - Imagine you have a very active life as a mother and professional. Then suddenly, inexplicably, something changes. You become weak. Everyday tasks become harder to complete. Moving becomes difficult. Multiple trips to the doctor do not provide immediate answers or solutions. And to make matters even worse, your siblings display the same symptoms. This is my story.

My family's medical journey began more than 40 years ago. Over the course of that time, my siblings and I suffered from the same symptoms. We set up appointments with our physicians and participated in several tests and studies in search of a diagnosis. The question no one could accurately answer: why is this happening?

I

Please refer to the link for the complete article.

http://www.healthnewsdigest.com/news/Research_270/Solving-a-40-Year-Medical-Mystery.shtml