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Is Newborn Screening the Ultimate Strategy to Reduce Diagnostic Delays in Pompe Disease? The Parent and Patient Perspective

Pompe disease (PD) is a rare, autosomal-recessively inherited deficiency in the enzyme acid α-glucosidase. It is a spectrum disorder; age at symptom onset and rate of deterioration can vary considerably. In affected infants prognosis is poor, such that without treatment most infants die within the f...

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Autores principales: Saich, Raymond, Brown, Renee, Collicoat, Maddy, Jenner, Catherine, Primmer, Jenna, Clancy, Beverley, Holland, Tarryn, Krinks, Steven
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7422966/
https://www.ncbi.nlm.nih.gov/pubmed/33073001
http://dx.doi.org/10.3390/ijns6010001
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author Saich, Raymond
Brown, Renee
Collicoat, Maddy
Jenner, Catherine
Primmer, Jenna
Clancy, Beverley
Holland, Tarryn
Krinks, Steven
author_facet Saich, Raymond
Brown, Renee
Collicoat, Maddy
Jenner, Catherine
Primmer, Jenna
Clancy, Beverley
Holland, Tarryn
Krinks, Steven
author_sort Saich, Raymond
collection PubMed
description Pompe disease (PD) is a rare, autosomal-recessively inherited deficiency in the enzyme acid α-glucosidase. It is a spectrum disorder; age at symptom onset and rate of deterioration can vary considerably. In affected infants prognosis is poor, such that without treatment most infants die within the first year of life. To lose a baby in their first year of life to a rare disease causes much regret, guilt, and loneliness to parents, family, and friends. To lose a baby needlessly when there is an effective treatment amplifies this sadness. With so little experience of rare disease in the community, once a baby transfers to their home they are subject to a very uncertain and unyielding diagnostic journey while their symptomology progresses and their health deteriorates. With a rare disease like PD, the best opportunity to diagnose a baby is at birth. PD is not yet included in the current newborn screening (NBS) panel in Australia. Should it be? In late 2018 the Australian Pompe Association applied to the Australian Standing committee on Newborn Screening to have PD included. The application was not upheld. Here we provide an overview of the rationale for NBS, drawing on the scientific literature and perspectives from The Australian Pompe Association, its patients and their families. In doing so, we hope to bring a new voice to this very important debate.
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spelling pubmed-74229662020-10-15 Is Newborn Screening the Ultimate Strategy to Reduce Diagnostic Delays in Pompe Disease? The Parent and Patient Perspective Saich, Raymond Brown, Renee Collicoat, Maddy Jenner, Catherine Primmer, Jenna Clancy, Beverley Holland, Tarryn Krinks, Steven Int J Neonatal Screen Review Pompe disease (PD) is a rare, autosomal-recessively inherited deficiency in the enzyme acid α-glucosidase. It is a spectrum disorder; age at symptom onset and rate of deterioration can vary considerably. In affected infants prognosis is poor, such that without treatment most infants die within the first year of life. To lose a baby in their first year of life to a rare disease causes much regret, guilt, and loneliness to parents, family, and friends. To lose a baby needlessly when there is an effective treatment amplifies this sadness. With so little experience of rare disease in the community, once a baby transfers to their home they are subject to a very uncertain and unyielding diagnostic journey while their symptomology progresses and their health deteriorates. With a rare disease like PD, the best opportunity to diagnose a baby is at birth. PD is not yet included in the current newborn screening (NBS) panel in Australia. Should it be? In late 2018 the Australian Pompe Association applied to the Australian Standing committee on Newborn Screening to have PD included. The application was not upheld. Here we provide an overview of the rationale for NBS, drawing on the scientific literature and perspectives from The Australian Pompe Association, its patients and their families. In doing so, we hope to bring a new voice to this very important debate. MDPI 2020-01-09 /pmc/articles/PMC7422966/ /pubmed/33073001 http://dx.doi.org/10.3390/ijns6010001 Text en © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Saich, Raymond
Brown, Renee
Collicoat, Maddy
Jenner, Catherine
Primmer, Jenna
Clancy, Beverley
Holland, Tarryn
Krinks, Steven
Is Newborn Screening the Ultimate Strategy to Reduce Diagnostic Delays in Pompe Disease? The Parent and Patient Perspective
title Is Newborn Screening the Ultimate Strategy to Reduce Diagnostic Delays in Pompe Disease? The Parent and Patient Perspective
title_full Is Newborn Screening the Ultimate Strategy to Reduce Diagnostic Delays in Pompe Disease? The Parent and Patient Perspective
title_fullStr Is Newborn Screening the Ultimate Strategy to Reduce Diagnostic Delays in Pompe Disease? The Parent and Patient Perspective
title_full_unstemmed Is Newborn Screening the Ultimate Strategy to Reduce Diagnostic Delays in Pompe Disease? The Parent and Patient Perspective
title_short Is Newborn Screening the Ultimate Strategy to Reduce Diagnostic Delays in Pompe Disease? The Parent and Patient Perspective
title_sort is newborn screening the ultimate strategy to reduce diagnostic delays in pompe disease? the parent and patient perspective
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7422966/
https://www.ncbi.nlm.nih.gov/pubmed/33073001
http://dx.doi.org/10.3390/ijns6010001
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