Early detection of the irreversible cardiac damages in the adults with late onset Fabry disease in a large cohort study via newborn screening

Niu, Dau‐Ming; Chang, Shun‐Hsyung; Hsu, Ting-Rong; Cheng, Chih‐Ya; Yang, Chia‐Feng; Chen, Yun‐Ru; Lu, Yung-Hsiu; Hsieh, Yi-Ping; Chen, Jing-Er

doi:10.1016/j.ymgme.2019.11.303

Cited by 1 publication

(1 citation statement)

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“…Similarly, for FD, treatment initiation at symptom onset is more beneficial than after organ damage has occurred (Ortiz et al, 2018). Niu et al, (2020) provide preliminary evidence from Taiwan that NBS enables HCPs to address what would otherwise be irreversible cardiac damage in late-onset FD (Niu et al, 2020). Accordingly, adults with both FD and LOPD in the current study believed they had suffered irreversible damage due to delayed diagnosis or treatment, while those with GD1 did not.…”

Section: Perceived Treatment Efficacymentioning

confidence: 61%

Opinions of adults affected with later‐onset lysosomal storage diseases regarding newborn screening: A qualitative study

Lisi

Ali

2021

Journal of Genetic Counseling

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Lysosomal storage diseases (LSDs) are a heterogeneous group of conditions causing substrate accumulation leading to progressive organ damage. Newborn screening (NBS) for several LSDs has become available in recent years due to advances in technology and treatment availability. While early initiation of treatment is lifesaving for those with infantile presentations, controversy continues regarding diagnosis of milder, later-onset diseases in infancy, including creation of pre-symptomatic populations of 'patients-in-waiting', the potential for medicalization, stigmatization, and/or discrimination. In-depth interviews were conducted with 36 adults [11 with Fabry disease (FD), 8 with Gaucher disease (GD), and 17 with late-onset Pompe disease (LOPD)], to determine their perspectives on NBS for their respective conditions. Thirty-four of 36 participants were in favor of NBS; both participants not in favor had GD1. Emergent themes influencing participants favorably toward NBS included earlier age of onset, a long diagnostic odyssey, less efficacious treatment, and the desire to have made different life decisions (e.g., relationships, career, or lifestyle) with the knowledge of their diagnosis. Concerns about insurance discrimination and psychological or physical burdens were associated with less favorable opinions of NBS. The ability for parents to make future reproductive decisions based their child's NBS result was considered favorably by some participants and unfavorably by others. Participants' specific condition (GD1, FD, or LOPD) contributed to these experiences differently. Participants with LOPD and FD favored NBS to initiate earlier treatment and prevent irreversible organ damage, whereas fewer patients with GD1 mentioned this benefit. Participants with LOPD had the longest diagnostic odyssey, while those with FD were more likely to report feeling misunderstood and experiencing accusations of malingering, both contributing to favorable views of NBS. Results expand prior quantitative findings by illuminating how participants' lived experiences can shape opinions about NBS. By understanding how currently affected individuals perceive the lifelong impact of a NBS result, genetic counselors can provide better anticipatory guidance to the parents of individuals diagnosed with a later-onset LSD by NBS.

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Section: Perceived Treatment Efficacymentioning

confidence: 61%