diagnosis

March 1, 2018

EURORDIS, Shire, Microsoft Form Global Commission to End Delayed Diagnoses in Rare Diseases

News

EURORDIS-Rare Diseases Europe teamed up with biotech Shire and software giant Microsoft to establish the Global Commission to End the Diagnostic Odyssey for Children to tackle and end the delay ... Read more

February 8, 2018February 7, 2018

Friedreich’s Ataxia and Marriage: Dealing with the Diagnosis

Columns, My Darling Disability - a Column by Kendall Harvey

When I met my husband Kyle in high school at the age of 16, everything was perfect. We were perfect. We were madly in love with limitless possibilities ahead ... Read more

February 7, 2018February 6, 2018

Why a Cure Isn’t Everything to Me Anymore

Columns, Through My Eyes - a Column by Jamie-Lee Dwyer

When I was younger, I just wanted to be healthy and able-bodied. When I went to sleep, I always dreamed of myself as walking; I never saw my wheelchair ... Read more

January 25, 2018January 25, 2018

An Introduction to My Darling Disability

Columns, My Darling Disability - a Column by Kendall Harvey

My name is Kendall and I was diagnosed with Friedreich’s ataxia (FA) at the age of 25. I grew up in Katy, Texas, where my childhood was quite happy. I was always ... Read more

January 15, 2018January 15, 2018

Before the #CureFA Mission

Columns, Fighting FA - a Column by Frankie Perazzola

  Happy New Year to all of you! I hope 2018 has been treating you well so far and that you’re working toward your new set of goals (or ... Read more

September 27, 2017September 27, 2017

#IARC2017 – New Genetic Variants May Explain Childhood-onset Ataxias, Finnish Study Suggests

Friedreich's Ataxia, News

A next-generation sequencing technique known as whole exome sequencing (WES) led to new genetic variants for childhood-onset ataxias being identified — including some in genes not previously linked to ataxia, and some ... Read more

September 13, 2017September 13, 2017

What Life Is Like With Friedreich’s Ataxia

  Unless you live with Friedreich’s ataxia, it’s hard to really understand what daily life is like with the genetic disease. It’s incredibly important that patients, caregivers and medical ... Read more

September 11, 2017September 9, 2017

Even in a Maddening Answer, a Sense of Relief

Columns, Fighting FA - a Column by Frankie Perazzola

“Why can’t you help bring in the groceries?” “Are you that lazy?” “Are you that drunk, already?” “Why are you so tired all the time?” “Why do you always ... Read more

August 28, 2017August 31, 2017

Life, Disease, and Renewed Hopes and Dreams

Columns, Fighting FA - a Column by Frankie Perazzola

As a kid, I shared similar career aspirations as my friends ― astronaut, marine biologist and lawyer were my top three. With high hopes and a head stuck in the ... Read more

May 16, 2017May 16, 2017

Ataxia-cause Patterns Emerge in Study but Researchers Unable to Establish Any in a Third of Cases

News

A group of brain diseases known as sporadic late-onset acute cerebellar ataxias have been attributed to lots of causes, so an American research team decided to study 80 patients to try ... Read more

March 23, 2017March 23, 2017

Identifying Ataxia Cause is Challenging, But Crucial Task, Study Finds

News

Identifying the underlying cause, and setting a diagnosis of ataxia is crucial, since therapies are available for some cases of immune-mediated or genetically acquired ataxias. A review of all ... Read more

February 21, 2017

Late-Onset Friedreich’s Ataxia May Be Confused with Another Genetic Disorder, Case Study Finds

News

Symptoms of late-onset Friedreich’s ataxia may be confused with those of another genetic disorder, Charcot–Marie–Tooth (CMT) disease, according to a case study. Researchers called for a careful evaluation of ... Read more