Borne diseases in newborn screening ! Dont silence and share ! ~ BilgiBebek <!--Can't find substitution for tag []-->

16 Kasım 2014 Pazar

Dear Mr Hunt 

We would like the number of diseases screened for during the heel prick test to be raised to bring the UK in line with other countries. I am alarmed to find that only 5 (I believe going up to 9) disorders are currently screened for during the new born screening tests in the UK. The USA legally screen for 31 disorders in all states during new born screening tests (up to 60 in some states), Australia and New Zealand for 28, European countries screen for up to 29, the UK is seriously lagging behind in this field. I would like the government to make a proactive change in new born screening in the NHS so more disorders are screened for in the UK and less families have to go through this heart breaking, powerless ordeal of watching their child suffer or die. Especially when some of these disorders can be easily tackled with medicine or diet changes if caught early enough.
yeni doğan bebek taraması
Newborn Screening

Why is this important?

This is very important for a multitude of potential disorders being tackled in new borns. The issue was brought to my attention through a family having a child born with Krabbe's disease. Krabbe's disease can effect anyone. It is caused by mutations in the GALC gene located on chromosome 14, which causes a deficiency of an enzyme called galactocerebrosidase. In rare cases it may be caused by a lack of active saposin A. In basic terms a first time expectant mother would most likely be completely unaware they carry the gene, if the father of the child also carries the gene there is a 25% chance their baby will be born with Krabbe's disease. The disease is not recognised immediately and can often be mistaken for colic by parents and doctors, once diagnosed (typically between 2 and 6 months in infants) there is nothing that can be done medically to save the infant. The body's nerves degenerate until the child loses the ability to hear, to see, to feel, to swallow and then to breath.

Typically an infant with Krabbe's disease will die before the age of two. This is currently screened for in the USA, but not in the UK. A recent study in the New England Journal of Medicine reports that cord blood transplants have been successful in stopping the disease as long as they are given before overt symptoms appear. Cord blood transplants mean using fluid from the mothers' umbilical cord after birth to aid the baby. So many babies could be given a better chance of life if their parents knew their child had this disease before it's too late. I understand that this can not be screened for in every pregnancy, due to cost and risks to the baby,but could be screened for, along with many other diseases during the new born screening (heel prick) tests.

Sosyal Paylaşım Sayfaları

sosyal sitesosyal sitesosyal site

Taze Yayınlar


Popüler Yazılarımız

Sayfa Görüntüleme Sayısı

Bumerang - Yazarkafe

Bumerang - Yazarkafe

Diğer Yazılarımız

Bloğumuza Birde Burdan Bakın ツ