The Legacy of Angels Foundation, Rosemount, Minnesota, United States.
Am J Med Genet C Semin Med Genet. 2022 Jun;190(2):153-155. doi: 10.1002/ajmg.c.31994. Epub 2022 Sep 3.
Since the early 2000s, many families impacted by Krabbe disease have tried to implement newborn screening for this rare fatal neurological disorder in their home state. However, despite grassroots efforts, states have been unable to agree to newborn screening for Krabbe disease due to poor testing mechanisms, lack of understanding of the developmental outcomes of transplantation, low incidence rate, and more. Over the past five years, many organizations and experts have made significant strides to help Krabbe disease meet the eligibility requirements for state panels and the Recommended Uniform Screening Panel (RUSP). Nevertheless, ethicists and newborn screening advisory committees continue to disregard the progress our community has made in the treatment and screening of Krabbe disease.
自 21 世纪初以来，许多受克拉伯病影响的家庭都试图在其所在的州开展新生儿筛查，以发现这种罕见的致命性神经疾病。然而，尽管基层做出了努力，但由于检测机制不完善、对移植后发育结果的理解不足、发病率低等原因，各州仍未能就克拉伯病的新生儿筛查达成一致。在过去的五年中，许多组织和专家在帮助克拉伯病符合州专家组和推荐的统一筛查小组（RUSP）的资格要求方面取得了重大进展。尽管如此，伦理学家和新生儿筛查咨询委员会仍然忽视了我们在克拉伯病的治疗和筛查方面取得的进展。
