Louise, in her blog post, explains her ataxia journey and reminds us to be inspired by our courageous resilience. My name is Louise, and I was born in Ceredigion, Wales, in 1961 to a family of six. I trained and worked as a neurology nurse in England. My father was diagnosed with cancer, which resulted in my return to Wales in 1990. There are no neurology nursing work or resources near my family. I started my mental health nurse training but faced challenges in 1992. I was diagnosed with ataxia in 2014, but the cause is unknown. I live with my husband and our dog, Gwen, in Carmarthenshire. Wri ..read more

Here is a snippet of Anamaria’s journey, she shared her story in support of the Rare Disease Day Campaign. My adventure with this condition began at the age of 16, when I started to lose my balance and got a drunken gait. Over time, I lost my reflexes, my muscle strength began to decrease, and my muscles atrophied. The family doctor sent me to an ENT consultation and at the neurologist’s office, who, as soon as I entered the door and saw me walking and staggering, sent me to an MRI. In 2000, I did the first MRI, which showed Spinocerebellar degeneration. After 3 years, I was diagnosed with Fr ..read more

Here is a snippet of Anamaria’s journey, she shared her story in support of the Rare Disease Day Campaign. My adventure with this condition began at the age of 16, when I started to lose my balance and got a drunken gait. Over time, I lost my reflexes, my muscle strength began to decrease, and my muscles atrophied. The family doctor sent me to an ENT consultation and at the neurologist’s office, who, as soon as I entered the door and saw me walking and staggering, sent me to an MRI. In 2000, I did the first MRI, which showed Spinocerebellar degeneration. After 3 years, I was diagnosed with Fr ..read more

Lexeo Therapeutics is a pharmaceutical company developing a gene therapy called LX2006 for people with Friedreich’s ataxia (FA) cardiomyopathy (a condition involving stretching, thickening, or stiffening of the heart muscle, making it harder to pump blood around the body). Frataxin is a protein that is deficient in people with FA. LX2006 is designed to transfer the FXN gene (which codes for the frataxin protein) to heart cells and increase frataxin protein levels in the energy centres of cells called mitochondria. The increase in frataxin levels in the mitochondria restores energy production i ..read more

The PROSPAX (PROgression chart of SPAstic ataXias) project focuses on ARSACS and SPG7, and is a collaboration between neurologists in several sites across Europe and Canada. The overall aim is to gain a better understanding of how spastic ataxias progress over time to prepare well-designed treatment trials for these conditions, that will be applicable to many of the >100 other spastic ataxias.   1. Tell me a bit about yourself and how you became involved in the PROSPAX project   I completed a master’s degree in technical medicine, specialising in medical sensing and stimulati ..read more

Here is fantastic blog post from our wonderful Friend, Tallulah. She talks about love and self-worth. As she puts it, “I talk about my own preconceptions, my internalized ableism and the hurtful assumption that the disabled community cannot have loving and meaningful connections”.   Like many young girls I fantasized about falling in love, about meeting the right person who just completely gets me. Growing together, buying a house together, the big white wedding and starting our own little family. My teenage years were spent creating mood boards on Pinterest, pinning my favourite wedding ..read more

Our friend, Laura, has kindly shared her thoughts with us in support of the Rare Disease Day campaign. She talks about the importance of acceptance and a little about her diagnosis journey.  Very few people understand how hard it is to navigate living with ataxia, and even fewer understand that it’s something that affects you every second of your life- it isn’t something you can just turn off for a bit. The way ataxia makes you feel a lot of the time is almost impossible to explain, so the response of “I’m fine” just becomes automatic. I’ve gotten used to people having blank looks on thei ..read more

On 26th February, the biotechnology company Voyager Therapeutics announced that as part of their collaboration with the biopharmaceutical company Neurocrine Biosciences, they have selected a lead development candidate in their Friedreich’s Ataxia (FA) program. The candidate is a replacement for the mutated gene FXN (which codes for the protein frataxin) inside a protein shell known as a capsid. This newly selected candidate is part of the Voyager Therapeutics and Neurocrine Biosciences capsid discovery platform TRACER. TRACER-generated capsids have shown the ability to enter cells and parts of ..read more

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