In today’s age , with all our technology and tools at our disposal such as the internet and advances in health care I am surprised to be reminded that not everyone understands or knows enough about new born screening and some new parents would rather opt out if it. so as not to have their new infants “poked and prodded”

Being as my life was saved by newborn screening and I understand the importance this shocks and sickens me. Don’t get me wrong. its not the parents fault. It is society.  Even with our advances and our understanding of life and health care we as a hole are failing our future children. This is even more so a crisis for myself as a nurse. It is my job and all nurses job to educate everyone on the importance of new born screening.

I actually recently heard that a maternity nurse didn’t actually want to do the “PKU test” she didn’t think it was necessary unless you had a family history. This is not appropriate and very upsetting for me to hear.

Many new parents don’t even no what PKU is until their child is diagnosed. Let alone if they are a carrier or have a family history.

With out new born screening I would have never been diagnosed. I never would have grown and developed. In fact by the time I was 6 months old , I would be mentally retarded.  A lot of people find that term offending and don’t like to hear me use it. They would prefer I say something like “mentally challenged” however, I feel it needs to be said! That is the reality. This is what we face.

How would you feel if you denied your baby a future and quality of life, by denning a simple blood test they wont ever remember. Yes its hard to watch your baby’s heal be pricked and squeeze for blood and yes they may cry and scream.  But this test is so essential. It also screens for many more things other than PKU.

It was not even until the late 1960s that New born screening became mandatory and was initiated all through out Canada. Anyone born with PKU before this was mentally retarded and usually in a group home or institutionalized.

We are lacking in education and because these diseases are so rare and not enough is known about them in the general public they dont understand. If it was something more common like diabetes, CF, Cancer or anything else that is very much public knowledge than the education would be there already.

I feel like it is my job as an advocate to educate the public, my family and my friends to make the best possible decision and to be informed. To be educated and help provide them with the education and research they need.  I feel its all of our jobs.  Some people may think it is not our job or that is unfair that we always have to be the ones educating the public. We didnt ask for this, it was given to us.   But who better than us?

My parents had no idea what PKU was or new born screening and they didn’t put much thought into it at all until the diagnosis came back.   Maybe if they had of know about it , been educated and aware that PKU existed and other conditions it would have lessened the dreadful feeling they found themselves with, and the fear.

Here are some important facts about Newborn screening:

Newborn screening is a public health program designed to screen infants shortly after birth for a list of conditions that are treatable, but not clinically evident in the newborn period.

Some of the conditions included in newborn screening programs are only detectable after irreversible damage has been done, in some cases sudden death is the first manifestation of the disease.

Screening programs are often run by state or national governing bodies with the goal of screening all infants born in the jurisdiction. The number of diseases screened for is set by each jurisdiction, and can vary greatly.

Most newborn screening tests are done by measuring metabolites and enzyme activity in whole blood samples collected on specialized filter paper

Newborn screening debuted as a public health program in the United States in the early 1960s, and has expanded to countries around the world, with different testing menus in each country.

The first disorder detected by modern newborn screening programs was phenylketonuria, a metabolic condition in which the inability to degrade the essential amino acid phenylalanine can cause irreversible mental retardation unless detected early. With early detection, and dietary management, the negative effects of the disease can be largely eliminated.

Robert Guthrie developed a simple method using a bacterial inhibition assay that could detect high levels of phenylalanine in blood shortly after a baby was born. Guthrie also pioneered the collection of blood on filter paper which could be easily transported, recognizing the need for a simple system if the screening was going to be done on a large scale. Newborn screening around the world is still done using similar filter paper.

Newborn screening has expanded since the introduction of PKU testing in the 1960s, but can vary greatly between countries. In 2011, the United States screened for 54 conditions, Germany for 12, the United Kingdom for 2 (PKU and medium chain acyl-CoA dehydrogenase deficiency (MCADD)), while France and Hong Kong only screened for one condition (PKU and congenital hypothyroidism, respectively).^[19]

The conditions included in newborn screening programs around the world vary greatly, based on the legal requirements for screening programs, prevalence of certain diseases within a population, political pressure, and the availability of resources for both testing and follow-up of identified patients.

Some of the diseases and disorders screened for in new born screening are as follows :

PKU and other amino acid disorders

Fatty Acid Oxidation disorders

Endocrinopathies

haemoglobins

organic academia

Cystic Fibrosis

Urea Cycle Disorders

Maple Syrup Urine Disease

Lysosmal Storage Disorders

Congenital Heart disorders

Sever combined immunodeficiency

Duchenne muscular dystrophy

adrenoleukodystrophy

 

and many others.

 

So Please I bag you, before you worry or want to denie the newborn screening heal poke test, please research it and understand it.   A simple blood test could save your infants life like it saved mine.

This is not like a vaccination, it is proven, it works, it saves lifes and it improves over all quality of life.

Thank you for reading this post.

Amanda