Laura Beth Jacquin Fundraising page
A little while ago I got an interesting question from a girl that I didn't know very well. After spending the entire day with me and having many conversations about Friedreich's Ataxia, she asked me how I've felt missing out on so much in life.
This kind of question might make some disabled people offended or very uncomfortable, but I took it as more of a compliment. I really like when someone wants to talk with me about things that really matter. This girl saw me as a real person, a person that is a thirty year old woman that is intelligent, motivated, and has experienced so much in life.
Friedreich's Ataxia (FA) is a rare and life-shortening neuromuscular disease that affects all muscle groups (including the heart), causing fatigue and loss of strength, coordination, and balance. It is passed on genetically, sometimes not showing up for generations. People with this disease slowly lose their ability to walk, talk, hear, and see.
The gene for FA was discovered in 1998. That same year the Friedreich's Ataxia Research Alliance (FARA) was founded to help allot funds specifically for FA research and study grants. Last year FARA funded over 5 million dollars to researchers and companies investigating twenty potential treatments to cure FA.
When someone starts to show symptoms of having FA they are usually so subtle that the disease could be called “invisible”. Because FA is genetic, people have it for their entire lives, but the ways in which this disorder presents itself, and the rate of progression, is different in every individual. The ability to go to school or work, order at a restaurant or go shopping independently, and even shaking hands or giving a hug begins to deteriorate.
This disease is completely physical and it does not define a person's intellect, maturity, or personality. I have been told that for being diagnosed twenty years ago with FA, that I have made so many accomplishments through school, extracurriculars, fundraising, and in my own friendships. However, I know that I could not have done all of these without the support of my friends and family.
Before I graduated from college, my eyesight started changing and I was diagnosed with optic nerve degeneration (rapidly changing loss of vision). While this symptom sometimes occurs with FA, it is not common. As my physical abilities were also worsening I was unable to apply for teaching jobs or return to school for a Master's degree. One of the biggest reasons I continue fundraising is so that I, and others with FA, can finish our education and/or pursue a career.
A lot of my friends and family have great jobs, many are married, and quite a few have kids. These facts do not make me angry or jealous, just very excited for them. I love it when I am able to spend time with their children because I can be that aunt who gets to spoil all of her nieces and nephews! Treating and curing FA will give me the chance to do so much more with these children– to hold them, to talk with them, to play with them, and to watch them as they grow up. I am very grateful to be in this position right now, but another reason why I want FA to be cured is so that I can start my own family.
I look forward to that day when researchers are able to discover a treatment for FA. I realize that my friends and I will initially see only gradual health improvements, depending on individual FA progression, but it will mean that we can start achieving positive changes in our lives.
There is a new drug in clinical trials called MOXIe that has shown the ability to restore energy production in the mitochondria. All patients in the study showed improvement including the recovery of some neurological function. At my last cardiology appointment, I was told that my heart had improved which was probably a result of the drug trail that I began seven years ago with the drug EPI-743. Completion of these trials and all other FA research is dependent on your donations.
That is why I am committed to the rideAtaxia fundraiser every year. I love it when I am able to involve so many of my friends and family, both at the rideAtaxia event and through online donations to Team Laura! It is very helpful when a donor is able to make a company match since that will sometimes double their donation! The 2018 rideAtaxia will be on Sunday, October 14th at Montgomery County Community College. Please sign up to ride and make donations to Team Laura.
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