迈尔综合征基金会是一个全球性的现代支持团体:罕见病的生意

IF 2.8 3区 医学 Q2 GENETICS & HEREDITY
Kate Wears, Angela E Lin, Lois J Starr
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引用次数: 0

摘要

宣传支持团体发展成为全国性和国际性组织,但它们都始于个人经历。我和丈夫刚被诊断出两岁的儿子患有迈尔综合征,作为孩子的父母,我们对未来的旅程感到不知所措。多亏了网络,主要是通过社交媒体,我们找到了其他患有迈尔综合征的家庭,并很快融入了这个充满挑战和欢乐的社区。迈尔综合征是由 SMAD4 的致病性错义变异引起的,是一种罕见的结缔组织疾病,以身材矮小、听力丧失、神经发育障碍和纤维增生为特征。这篇与医生合作伙伴共同撰写的个人文章介绍了迈尔综合征患者全球权益组织的发展情况。我有幸担任该组织的创始执行主任,并自豪地回顾了我们这个了不起的支持团体所取得的巨大进步。我们通过提供有意义、可访问的数据、教育机会以及与其他经历相似的人建立联系,增强受这种罕见疾病影响的全球社区的能力。利用我们董事会的专业知识和我在企业方面的专长,我们将讨论如何将我们这个极其罕见的社区提升为一个更广泛、更全面的网络。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
The Myhre Syndrome Foundation as a global modern support group: The business of rare.

Advocacy support groups grow into national and international organizations, but they all begin with personal experiences. As the parents to a newly diagnosed two-year-old son with Myhre syndrome, my husband and I were overwhelmed with the journey ahead. Thanks to networking, primarily through social media, we located other families living with Myhre syndrome and were quickly immersed in the challenges and joy of this community. Myhre syndrome, caused by pathogenic missense variants in SMAD4, is a rare connective tissue disease characterized by short stature, hearing loss, neurodevelopmental challenges, and fibroproliferation. This personal essay, written with physician partners, describes the development of a global advocacy group for patients with Myhre syndrome. I have the honor of serving as the founding Executive Director and reflect proudly on the great strides that our marvelous support group has made. We empower the global community impacted by this rare condition by providing meaningful and accessible data, educational opportunities, and connections with others going through similar experiences. Utilizing the expertise of our Board of Directors and my corporate expertise, we discuss how we have been able to elevate our ultra-rare community into a broader, more comprehensive network.

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来源期刊
CiteScore
7.00
自引率
0.00%
发文量
42
审稿时长
>12 weeks
期刊介绍: Seminars in Medical Genetics, Part C of the American Journal of Medical Genetics (AJMG) , serves as both an educational resource and review forum, providing critical, in-depth retrospectives for students, practitioners, and associated professionals working in fields of human and medical genetics. Each issue is guest edited by a researcher in a featured area of genetics, offering a collection of thematic reviews from specialists around the world. Seminars in Medical Genetics publishes four times per year.
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