About Fabry

What is Fabry disease?

Fabry disease results from abnormal deposits of a particular fatty substance (called globotriaosylcera-mide) in blood vessel walls throughout the body. The primary defect which allows this to occur is the inherited deficiency of the enzyme, alpha galactosidase A, which is normally responsible for the breakdown of globotriaosylceramide.

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About FSIG

Our Story

FSIG was started in 1996 as a “kitchen table” support group

formed by two Fabry patients and a supportive family member with the hope that their particular understanding of this disease, combined with experience at gathering information and working with doctors could benefit others. FSIG is a continually growing and expanding organization constantly looking for new opportunities to assist in improving patient’s lives.

1996

FSIG Founded

Families came together to create one of the first dedicated support organizations for Fabry disease. At the persistent urging of Robert Desnick, MD, PhD FSIG was co-formed by Jack, Debra, and Kathy Johnson.

1997

First Newsletter & Website

In April the first ever newsletter is published for those affected by Fabry disease. A total of 100 copies were produced. The first website for the Fabry patient community is also launched.

2000

Officially Recognized

FSIG becomes an IRS recognized 501(c)(3) nonprofit organization.

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2002

European Approved Medicine

European Medicines Agency (EMA) approves Fabrazyme and Replagal.

2002

Consistentency

1st Letters to the Food and Drug Administration (FDA)

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2003

US Approved Medicine

The second group of Community letters sent to the FDA. A meeting with the FDA influences product labeling. The FDA approves Fabrazyme.


2006

Newborn Work Begins

Newborn screening assay validation efforts with Dawn Laney.

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2007

RUSP Submission

Submitted Fabry for the RUSP.

2009

Drug Shortage

A shortage of Fabrazyme cause patients to seek other treatments.

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2010

More Work for NBS

Joined the Missouri Newborn Screening Standing Committee. Worked with the Genetic Alliance on the development of A Guide to Family Health History and A Guide for Understanding Genetic and Health.

2011

Support Beyond Care

FSIG began a new limited financial assistance  program called RAFT now called Fabry Assist. Since then, 751 assistance awards have been provided averaging $478.60.

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2012

Eyes on Fabry

A new program for optometrists started called Eyes on Fabry. Jack traveled state by state in his car carrying the slit lamp so doctors could learn what whorling looked like in Fabry.

2013

The medical specialists at Emory in Atlanta began a new study on newborn screening for variants with late onset.

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2015

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2018

Testing for Tots was started by Brian and Tia Jones and now employs a part-time newborn screening associate to advocate for Fabry on the state level.

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2018

Jack receives the WORLDSymposium PAL Award!

2022

FSIG worked with the National Kidney Foundation on The Voice of the Patient Report Externally Led Patient-Focused Drug Development meeting on Fabry.

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2023

The Lysosomal Storage Disorder Advocacy Coalition was formed.

2023

Jack receives the Sanofi TORCH Award!

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2024

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Our Mission

It is the mission of the Fabry Support & Information Group (FSIG) to raise awareness of Fabry disease and its symptoms, to advocate for community needs and to lead the fight for the most effective treatment possible and eventually a cure. FSIG provides a link for the Fabry community to information, each other, the medical community, researchers, the pharmaceutical industry and regulatory authorities. FSIG strives to support affected families and individuals lead fuller lives.

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