| Autor: |
Raymond Saich, Renee Brown, Maddy Collicoat, Catherine Jenner, Jenna Primmer, Beverley Clancy, Tarryn Holland, Steven Krinks |
| Jazyk: |
angličtina |
| Rok vydání: |
2020 |
| Předmět: |
|
| Zdroj: |
International Journal of Neonatal Screening, Vol 6, Iss 1, p 1 (2020) |
| Druh dokumentu: |
article |
| ISSN: |
2409-515X |
| DOI: |
10.3390/ijns6010001 |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
|
