Sandhoff Disease
I cannot imagine what it would feel like for parents who do not have medical training. The Cure Tay Sachs Foundation was extremely helpful in this regard, providing a roadmap to families in a terrain that is so difficult to navigate - Hassan Chahine MD
image by: Zahraa Chahine
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‘It’s Important to Us That People Know Who She Was’
When Caitrin’s daughter, Embree, was 9 months old she stopped noticing her favorite toy.
Two months prior, she was hospitalized for an infection. After the hospitalization, Caitrin had noticed her daughter continue to get weaker and become uninterested in solid foods. The biggest shock, however, came when Caitrin realized her daughter lost her vision: “We put her favorite toy in front of her and she looked right past it.”
Caitrin and her husband knew “something was really wrong” with their daughter. They were trying to see a geneticist, but unfortunately it was a six month wait to get an appointment. As a mother, Caitrin knew she needed answers, and as a nurse, she knew…
Resources
First patient dosed in clinical trial of gene therapy for Tay-Sachs and Sandhoff diseases
Sio Gene Therapies, a company focused on developing gene therapies to radically transform the lives of patients with neurodegenerative diseases, announced that the first patient with infantile Tay-Sachs disease has been dosed in a Phase I/II trial evaluating AXO-AAV-GM2, an investigational gene therapy for the treatment of GM2 gangliosidosis, which causes Tay-Sachs and Sandhoff diseases.
‘It’s Important to Us That People Know Who She Was’
Caitrin lost her daughter to Sandhoff disease and sees contributing to research as one way to make sure Embree's memory lives on.
Cure Tay-Sachs Foundation
The Cure Tay-Sachs Foundation is dedicated to funding the on-going research needed to find treatments and a cure for Tay-Sachs Disease. Once the cure for Tay-Sachs has been found - and we will find it! - we will dedicate our efforts to promoting carrier-testing and Tay-Sachs awareness initiatives.
AllStripes
Contribute to multiple studies for your (or your loved one’s) rare condition without leaving home.
Mathew Forbes Romer Foundation
Our mission continues to promote and lead critical awareness, testing, counseling, and research initiatives that hold promise for the prevention and eventual treatment and cure of fatal children’s genetic diseases of the brain.
BrainFacts.org
Sandhoff disease is a rare, inherited lipid storage disorder that progressively destroys nerve cells in the brain and spinal cord. It is caused by a deficiency of the enzyme beta-hexosaminidase, which results in the harmful accumulation of certain fats (lipids) in the brain and other organs of the body. Sandhoff disease is a severe form of Tay-Sachs disease, the incidence of which had been particularly high in people of Eastern European and Ashkenazi Jewish descent,
Myriad Genetics
The incidence of Sandhoff disease is estimated to be 1 in 400,000. The condition may be observed more frequently in certain populations including the Creole population of northern Argentina, the Metis Indians in Saskatchewan, Canada, and people from Lebanon.
National Tay-Sachs & Allied Diseases Association
Today, NTSAD is recognized as a leading non-profit patient group with a demonstrated commitment to service, science and support. NTSAD gives help and hope to thousands of individuals and families from many backgrounds and ethnicities who have been or are affected by Tay-Sachs, Canavan and related genetic diseases all over the world.
NINDS
Sandhoff disease is a rare, inherited lipid storage disorder that progressively destroys nerve cells in the brain and spinal cord. It is caused by a deficiency of the enzyme beta-hexosaminidase, which results in the harmful accumulation of certain fats (lipids) in the brain and other organs of the body. Sandhoff disease is a severe form of Tay-Sachs disease, the incidence of which had been particularly high in people of Eastern European and Ashkenazi Jewish descent, but Sandhoff disease is not limited to any ethnic group.
NORD
The most common type of Sandhoff disease causes rapidly progressing mental and motor decline in infancy. Within the first six months of life, infants with Sandhoff disease will experience weakness.
ScienceDirect
SD is a uniformly fatal, rapidly progressive, autosomal recessive LSD caused by an absence of both HexA and HexB, leading to accumulation of GM2 and GA2 gangliosides in the CNS.
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