My Journey with Ataxia: From Despair to Hope

A Personal Story of Struggle, Resilience, and Advocacy

Ataxia, you took so many beautiful souls from us! It is high time that we put an end to this!

It was so disheartening to see how Ataxia took the lives of my loved ones without a fighting chance due to the lack of financial resources way back then. This dearth sent my family to the harrowing pit of hopelessness as we watched Ataxia take the lives of my father and my older brother, not to mention my other relatives. Getting by on what we had before, they could see only a local doctor, whose diagnosis was far from accurate. Please don’t get me wrong. I don’t blame that doctor considering the complexity of Ataxia. Our humble circumstances and limited understanding of this disease in the past denied us access to better healthcare. Hence, no treatment, no therapy was administered to them, so we lost them earlier than it should have been. Day and night, we saw them grappling with the symptoms of Ataxia, patiently bearing the discomfort and fear in silence. You know that horrible feeling of not being able to help could be haunting. Unfortunately, a financially-challenged relative in the Philippines just lost hope and ultimately gave up once Ataxia symptoms began to exhibit. How horrendous!

My Ataxia journey effectively commenced even before I started to exhibit symptoms in January 2022. I can say that I am blessed with intelligence and a set of skills to compete with the world and to utilize these gifts to better our way of living. To God be the glory! In the early years of my career, the thought that my family would be better geared for our fight against Ataxia, a known nemesis of our clan, fueled and refueled me as I busted my buns at work. I allowed neither discrimination nor difficulty to come my way, for I had a sole objective: to secure viable resources for us to combat Ataxia. These resources are not only in terms of finances but also the intangible ones such as a strong and positive mindset, unyielding resilience, meaningful relationships, and strong faith in God which, for me, are more essential in my battle against Ataxia.

Part of my job as CFO is to understand risk and to identify different measures on how to mitigate this risk. For me, these resources are deemed more vital in this journey as they will help me get up and continue fighting despite whatever it takes. I know this fight is going to be a long one with a lot of bumpy roads.

Personally, having Ataxia is undeniably an unfortunate circumstance, but it would be instrumental in changing the fate and way of living for my family and relatives. Truth be told, I am blessed to have tools and resources needed to have access to better healthcare and to afford necessary treatments and other sensible alternatives.

I lived and worked in Bermuda when I started to exhibit the symptoms. There and then, the necessary genetic testing for me commenced. Since I was in Bermuda, securing medical appointments was quite challenging because of availability. You know my Bermuda neurologist is Boston-based, and he only comes to Bermuda once a month adding to the limitations. My genetic testing showed that I have SCA-1; all along, we thought it was Friedrich Ataxia. Regardless of the type, what I have is hereditary, which was deemed to have no available treatment. When we did the genetic testing, its main purpose was just to accurately determine the ataxia type we have as my brother was told about Friedrich Ataxia without the necessary genetic testing. Hope sprouted when Dr. Didier Cros told me that I have SCA-1 and there is an ongoing treatment for SCA types in Boston. God, I was so ecstatic upon knowing it! We immediately scheduled my appointment in Mass Gen. He specifically asked that Dr. Jeremy Schmahmann, Ataxia Unit Director at Mass Gen, Founding Director of US Ataxia Research, and a Harvard professor, look at my case. After reading his profile, I can say he is a genius in Ataxia and neurobiology. Even though it was challenging to get an appointment, it was all worth it because I have huge confidence that I am in good hands.

I started my Ataxia treatment program in February 2024 after my consultation with Dr. S. To be honest, going through the program was like a roller coaster ride. It seemed to me that work stress was slowing down the effectiveness of my treatment, considering the demands of my CFO executive role in the company. It is for this reason that I decided to take a long work break to focus on my treatment. I cannot afford to lose in this battle now that I know I have a chance of winning it. The cornerstone of my fight is not only centered on my survival but also for my two sisters who are trying to combat Ataxia, too.

The promising research works of NAF are so pivotal to my Ataxia journey; hence, I am supporting the foundation in every way I can. It is my own personal satisfaction to help charities – how much more if the cause has benefited me by finding treatment to SCA. For this noble cause, I initiated a fundraising effort for NAF’s Walk N’ Roll campaign. I really appreciated the generosity of the people who donated to this cause, which generated $4,406 from my friends and colleagues. I also advocated two other fundraising activities (sale drive and steps challenge), which also served to promote awareness of Ataxia. When I left Bermuda, I did a “Leaving the Island” sale to dispose of my things, the proceeds of which were donated to NAF plus a 100% match from me. This drive generated $3,088 ($1,544 proceeds plus $1,544 match from me). Then, I initiated a 2-day steps challenge where my friends all over the world went out to do the noble walk. Some friends organized a walking group, students of a teacher-friend joined too, work colleagues of some friends, acquaintances that I haven’t heard from for so long, relatives of some friends, etc… There were over 100 submissions accumulating 1.8 million steps, which has a corresponding $2,000 donation. With the 3 initiatives, we have donated over $9K to the research work of NAF.

I am full of gratitude to many people who helped, not only by donating to my fundraising drives but also by sparing their time in assisting me, being considerate at work, praying for my recovery, and helping me in their own noble ways. With these, I will be eternally indebted. Also, this is a strong validation that humanity still exists and God will always give you the help at the perfect timing. Thus, regardless of any unpleasant circumstance, I always choose to continue to be kindhearted, to help others in my own ways, and to be a good person even when others are mean to me. For me, kindness has always its way of coming back. So far in this journey, I have had countless moments that present me with the thought of giving up, yet I am thankful that my life experiences always give me unlimited reasons not to.

With the critical milestone of the FDA’s approval of Troriluzole’s NDA, I want to thank the researchers and all the people involved for all the hard work they have put in so far because finding a treatment for some Hereditary Ataxias, like the SCA which I have, is so essential in changing my perspective (and others) of winning this fight. You gave us a greater fighting chance. Similar to the research breakthroughs on the treatment of some hereditary ataxias, I have high optimism that one day a drug will be discovered to ultimately cure and prevent it rather than slow down the progression of the symptoms.

In the near future, I will tell my own success story of an Ataxia survivor from an unpopular rural area of the Philippines that irrespective of all odds, I emerged as a triumphant warrior of this battle. And my Ataxia journey will not end here because knowing myself, in my own ways, I will surely help others to survive it, too! May God be with us all!

Allan Jane Defante
Future Ataxia Survivor & Advocate