October 18, 2019October 17, 2019
My Daughter Has a Terminal Illness. Now What?
Columns, Parenting a Sanfilippo Child – a Column by Kelly Wallis
My daughter Abby was diagnosed with Sanfilippo syndrome almost two years ago. It took a while to live with ... Read more
October 16, 2019October 15, 2019
The Devastating Phone Call that Confirmed My Sister’s Diagnosis
Columns, Finding My Peace with Sanfilippo – a Column by Emily Wallis
No two diagnosis days are the same. The day the phone rings with news of a diagnosis hits everyone ... Read more
October 11, 2019October 8, 2019
My Daughter’s Journey to a Diagnosis
Columns, Parenting a Sanfilippo Child – a Column by Kelly Wallis
My daughter Abby was 22 when she was diagnosed with Sanfilippo syndrome. We were devastated. Like any other significant ... Read more
October 9, 2019October 8, 2019
Finding Peace with My Sister’s Diagnosis of Sanfilippo Syndrome
Columns, Finding My Peace with Sanfilippo – a Column by Emily Wallis
Hi! My name is Emily Wallis. Thanks for checking out my column. I’m excited about the opportunity to provide ... Read more
October 3, 2019October 3, 2019
Sanfilippo Type A Changes Metabolism of Sugar and Fat Molecules in Brain Regions, Mouse Study Shows
News
Sanfilippo syndrome type A leads to changes in the metabolism of gangliosides (sugar-fat molecules) and sphingolipids (fat molecules) in different ... Read more
September 27, 2019September 26, 2019
NORD 2019 Rare Disease Summit Set for Oct. 21-22 in Washington, DC
News
Next month’s annual conference of the National Organization for Rare Disorders (NORD) in Washington, D.C., couldn’t come at a ... Read more
September 26, 2019September 26, 2019
Sanfilippo Should Be Considered in Landau Kleffner Syndrome Diagnoses, Case Report Suggests
News
Screening for metabolic disorders, such as Sanfilippo syndrome, should be considered in patients initially diagnosed with Landau Kleffner syndrome, ... Read more
September 19, 2019September 19, 2019
Lysogene Announces Goals for Its MPSIIIA Clinical Program
News
After a pivotal start in 2019 to its clinical program for Sanfilippo syndrome type A, Lysogene has announced its new ... Read more
September 5, 2019September 5, 2019
Alpha-Synuclein Buildup Doesn’t Weigh on Early Stages of Sanfilippo Type A, Mouse Study Suggests
News
Accumulation of the protein alpha-synuclein in the brain — a hallmark of neurodegenerative diseases like Parkinson’s — does not factor ... Read more
September 2, 2019August 30, 2019
‘Disorder’ Film Festival Offers Look at Siblings Touched by Rare Diseases
News
Rare diseases deeply affect not only the children who experience them, but also their healthy brothers and sisters, as ... Read more
August 29, 2019August 29, 2019
Seelos Therapeutics to Begin Phase 2b/3 Trial of Potential Sanfilippo Therapy Trehalose
News
Seelos Therapeutics‘ investigational new drug application for SLS-005 (trehalose) has been accepted by the U.S. Food and Drug Administration ... Read more
August 28, 2019
At NY Genome Center, Legal Expert Presents Ethical Dilemmas in Gene Editing
News
Developing gene therapies for rare diseases is one thing. Creating gene-edited “designer babies” is quite another. German legal expert ... Read more

October 18, 2019October 17, 2019

My Daughter Has a Terminal Illness. Now What?

Columns, Parenting a Sanfilippo Child – a Column by Kelly Wallis

My daughter Abby was diagnosed with Sanfilippo syndrome almost two years ago. It took a while to live with the shock of the diagnosis. Not long before she was ... Read more

October 16, 2019October 15, 2019

The Devastating Phone Call that Confirmed My Sister’s Diagnosis

Columns, Finding My Peace with Sanfilippo – a Column by Emily Wallis

No two diagnosis days are the same. The day the phone rings with news of a diagnosis hits everyone differently, even among members of the same family. I remember ... Read more

October 11, 2019October 8, 2019

My Daughter’s Journey to a Diagnosis

Columns, Parenting a Sanfilippo Child – a Column by Kelly Wallis

My daughter Abby was 22 when she was diagnosed with Sanfilippo syndrome. We were devastated. Like any other significant event, things are now classified as “before” or “after” the ... Read more

October 9, 2019October 8, 2019

Finding Peace with My Sister’s Diagnosis of Sanfilippo Syndrome

Columns, Finding My Peace with Sanfilippo – a Column by Emily Wallis

Hi! My name is Emily Wallis. Thanks for checking out my column. I’m excited about the opportunity to provide a window into my life as a Sanfilippo sibling. It’s ... Read more

October 3, 2019October 3, 2019

Sanfilippo Type A Changes Metabolism of Sugar and Fat Molecules in Brain Regions, Mouse Study Shows

News

Sanfilippo syndrome type A leads to changes in the metabolism of gangliosides (sugar-fat molecules) and sphingolipids (fat molecules) in different brain regions, and at different stages of the disease, according ... Read more

September 27, 2019September 26, 2019

NORD 2019 Rare Disease Summit Set for Oct. 21-22 in Washington, DC

News

Next month’s annual conference of the National Organization for Rare Disorders (NORD) in Washington, D.C., couldn’t come at a better time, says Marshall Summar, MD, chairman of NORD’s board ... Read more

September 26, 2019September 26, 2019

Sanfilippo Should Be Considered in Landau Kleffner Syndrome Diagnoses, Case Report Suggests

News

Screening for metabolic disorders, such as Sanfilippo syndrome, should be considered in patients initially diagnosed with Landau Kleffner syndrome, according to a recent case study. The report, “An Uncommon ... Read more

September 19, 2019September 19, 2019

Lysogene Announces Goals for Its MPSIIIA Clinical Program

News

After a pivotal start in 2019 to its clinical program for Sanfilippo syndrome type A, Lysogene has announced its new goals for developing a treatment for the disease, also known ... Read more

September 5, 2019September 5, 2019

Alpha-Synuclein Buildup Doesn’t Weigh on Early Stages of Sanfilippo Type A, Mouse Study Suggests

News

Accumulation of the protein alpha-synuclein in the brain — a hallmark of neurodegenerative diseases like Parkinson’s — does not factor in the early disease course of Sanfilippo syndrome type A, ... Read more

September 2, 2019August 30, 2019

‘Disorder’ Film Festival Offers Look at Siblings Touched by Rare Diseases

News

Rare diseases deeply affect not only the children who experience them, but also their healthy brothers and sisters, as their parents can attest. Two entries in November’s “Disorder: ... Read more