7000 rare genes.

My Chinese grand dad used to tell a Chinese version of Little Miss Bo Peep. The cloud is liken to be our diseased children. One moment, they are there. the next moment they are gone.



29 February was RARE genes day. There are 7000 rare genes diseases.
In New Zealand, the (NSU) provides health screening programmes. http://www.nsu.govt.nz/about/index.aspx


Today, I went to the monthly meetings of Sands. Many of us do not know why our babies die.

The Newborn Metabolic Screening Programme screens for rare but potentially serious disorders such as phenylketonuria (PKU), cystic fibrosis, and congenital hypothyroidism.
A blood sample is taken from your baby’s heel at or as soon as possible after 48 hours of age (the ‘heel prick’ or ‘Guthrie’ test). If a disorder is found, early treatment can prevent permanent damage or death.

Did you know that...

While most babies look healthy, there are some disorders that aren't visible
Early treatment of these disorders can prevent potentially serious complications which can cause permanent damage to the baby or even death
To screen for these disorders, a sample of blood is collected from the baby's heel
The screening is free to babies born in New Zealand (http://www.health.govt.nz/new-zealand-health-system/eligibility-publicly-funded-health-and-disability-services)

How to get your baby screened

Your Lead Maternity Carer (LMC) or midwife will discuss newborn metabolic screening with you during your pregnancy. You will be offered screening for your baby when s/he is 48 hours of age. If you have any questions about screening, have a look at the Frequently asked questions on this site, if there is no answer you can submit a question from that page.