We conducted a retrospective cohort study of 84 participants with genetically confirmed Wolfram syndrome and insulin-dependent diabetes mellitus enrolled in the Washington University Wolfram Syndrome International Registry and Clinical Study.
Wolfram syndrome type 1 (WS1) is a rare, progressive, multisystem neurodegenerative disorder characterized by diabetes mellitus, optic atrophy, diabetes insipidus, and sensorineural hearing loss. As survival has improved, an increasing number of affected women are reaching reproductive age. However, evidence on pregnancy and peripartum management in WS1 remains scarce, and practical guidance is limited. This case report describes the multidisciplinary management of pregnancy and delivery in a woman with genetically confirmed WS1 and highlights key considerations for peripartum care.
Wolfram syndrome (WS) is an ultrarare neuroendocrine disorder caused by pathogenic variants in WFS1, frequently leading to progressive neurological, autonomic, and cognitive impairment. Anticipating neurological trajectories remains challenging due to marked phenotypic variability and limited genotype–phenotype data.
Wolfram syndrome (WFS), also known as DIDMOAD, is a rare monogenic neurodegenerative disorder characterized by four key components: non-autoimmune insulin-dependent diabetes mellitus (DM), optic atrophy, sensorineural hearing loss, and diabetes insipidus. Although it significantly affects quality of life, gonadal dysfunction, particularly hypogonadism, remains underrecognized.
Wolfram syndrome is a rare neurodegenerative disorder primarily known for its multisystemic manifestations. Although classically associated with diabetes insipidus, diabetes mellitus, optic atrophy, and deafness, emerging evidence suggests a consistent pattern of executive dysfunction in many affected individuals.
TSF would like to thank the Duncan and Flexer Families for their unwavering support. Organizing fundraisers is challenging, but their dedication is exemplary. Their support is vital to our mission. We also thank McCarthy Building Companies for its annual fishing tournaments, which generate funds and raise awareness. We are grateful. Duncan Family: Fishing for Ford […]
We are pleased to welcome Mr. Michael Wallace to The Snow Foundation Team. Michael’s journey with The Snow Foundation is truly heartfelt. As a former senior content producer at Children’s Hospital Los Angeles, he loved sharing patient stories that helped raise funds and awareness. During his executive MBA, Michael learned about Wolfram syndrome through the […]
We are pleased to welcome Emily Kohler, who will assist with the Wolfram syndrome Global Facebook administration and assume some of the responsibilities previously held by Pat Gibilisco. She is 27 years old and from Media, Pennsylvania. Emily was diagnosed with Wolfram syndrome on December 20, 2021, at the age of 23. Although the past […]
Pat will be stepping down from the role of Patient Administrator. We appreciate all the dedication and hard work Pat has shown during her time in this position. Pat, a pioneering figure in the Wolfram syndrome community, was the Co-Founder of the first Wolfram Syndrome Website and Family Support Group. This initiative, which she launched […]
We’re excited to announce the launch of Wolfram Rising, a private peer-led Facebook support group for young people (ages 15–30) living with Wolfram Syndrome. This group is a safe, welcoming space where you can be yourself, connect with others who truly understand what you’re going through, and share experiences, laughter, and support. Our young WS […]
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