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May 13, 2022

TOPIC: Patient Stories

Summerly’s Rare Journey

Posted at May 5, 2022 09:00 am by Julie Ostroff

I am a parent to a daughter with genetic disorder 22q11.2 deletion syndrome (commonly known as DiGeorge syndrome). She was born on July 1, 2021 and diagnosed on July 23 through a chromosomal microarray blood test. The entire month of July was a whirlwind. Her health issues began with seizures at home around nine days old, which is what… Read More

May 11, 2022

TOPIC: Patients & Members, Patient Stories

NORD Hosts the Largest Gathering of a Rare, Post-Transplant Cancer in History

Posted at May 5, 2022 08:17 am by Rohan Narayanan

Post-Transplant Lymphoproliferative Disorder (PTLD) is a rare cancer related to organ and stem cell transplants, as well as Epstein bar disease. There is no nonprofit organization dedicated to this community and the last known gathering involved less than a dozen patients and caregivers, pre-pandemic. When NORD learned of interest in this disease to share patient and caregiver stories… Read More

April 29, 2022

TOPIC: Patient Stories

What the Public Should Know: From the Mother of an Undiagnosed Child

Posted at April 4, 2022 09:00 am by Julie Ostroff

I am a mom of a beautiful rare and unknown disease warrior. Sarah is 10 years old and has been facing a disease that is unknown for two years. We are trying IVIG treatments, and if they don’t work, we are being sent to the National Institutes of Health (NIH) for a case study. It’s been a very hard… Read More

April 25, 2022

TOPIC: Patients & Members, Patient Stories

Audrey’s Story in Honor of Undiagnosed Day

Posted at April 4, 2022 12:05 pm by Julie Ostroff
Two young boys playing outside leaning on a rock

I am a parent of three children. Our two sons are medically complex with an unnamed syndrome. Through our parenting journey, we have faced epilepsy, autism, ADHD, global developmental delays, factor XI deficiency, hypoglycemia due to a suspected congenital disorder of glycosylation (CDG), severe reflux, dysphagia, rare surgical complications, as well as subtotal villous atrophy, splenomegaly, and enlarged abdominal… Read More

April 19, 2022

TOPIC: Patients & Members, Patient Stories

Zane’s Diagnostic Odyssey: His Mother’s Story in Honor of Undiagnosed Day

Posted at April 4, 2022 10:00 am by Julie Ostroff
Lisa in a Running For Rare tank top with her son Zane who is wearing a blue shirt

While in uterus, Zane had an abnormally large bladder that did not drain properly; however, no diagnosis was given at that time. The doctors monitored Zane closely starting around 20 weeks. He was suspected of having megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) in December of 2012 at six days old. Genetic testing began in January 2013, and official results… Read More