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February 26, 2019

TOPIC: Advocacy, Get Involved, Patient Stories, Rare Disease Day

Ben’s Story in Honor of Rare Disease Day

Posted at February 2, 2019 09:45 am by Christina Jensen

The following story was submitted by Leah Schust in honor of Rare Disease Day. In this story, Leah shares her family’s journey of searching for and receiving a diagnosis for their son, Ben, of  SCN2A Disorder.

Share your story for Rare Disease Day here.


Benjamin, known to all who love him as Ben, is an adorable… Read More

February 25, 2019

TOPIC: Advocacy, Featured News, Get Involved, Patient Stories, Patients & Members, Rare Disease Day

Connor’s Story in Honor of Rare Disease Day

Posted at February 2, 2019 01:06 pm by Christina Jensen

The following story was submitted by Katia Luedtke in honor of Rare Disease Day. In this story, Katia shares her family’s journey of searching for and receiving a diagnosis for their son, Connor, of Snyder-Robinson Syndrome (SRS). 

Share your story for Rare Disease Day here.


Our son Connor was diagnosed with Snyder-Robinson Syndrome (SRS) in… Read More

February 12, 2019

TOPIC: Advocacy, Featured News, Get Involved, Patient Stories, Patients & Members, Rare Disease Day

India’s Story in Honor of Rare Disease Day

Posted at February 2, 2019 01:43 pm by Christina Jensen

The following story was submitted by Sarah Stuker in honor of Rare Disease Day. In this story, Sarah shares her family’s journey of searching for and receiving a diagnosis for their daughter, India, of Spinocerebellar Ataxia. 

Share your story for Rare Disease Day here.


This story is about our little girl, India, who will be… Read More

February 12, 2019

TOPIC: Advocacy, Featured News, Get Involved, Patient Stories, Patients & Members, Rare Disease Day

McCarthy Story in Honor of Rare Disease Day

Posted at February 2, 2019 12:30 pm by Christina Jensen

The following story was submitted by Lindsey McCarthy in honor of Rare Disease Day. In this story, Lindsey shares her family’s journey of receiving a diagnosis for their son, James, of a CNTNAP1 mutation. Read on to learn how the McCarthy’s have worked to find other families who are affected by this particular gene mutation and how… Read More

February 1, 2019

TOPIC: Advocacy, Featured News, Get Involved, Patient Stories, Patients & Members, Rare Disease Day

Brazeau Family Story for Rare Disease Day

Posted at February 2, 2019 09:34 am by Christina Jensen

The following story was submitted by Kirk Brazeau in honor of Rare Disease Day. In this story, Kirk shares his  family’s journey of receiving a diagnosis for their son, Archer, of Recessive Dystrophic Epidermolysis Bullosa (RDEB). Read on for a harrowing account on hearing about a life-changing diagnosis, and how the Brazeau family was able… Read More