ESPKU Conference, Day 2 - Part 2

Newborn Screening

Patricia S. Guthrie: My father's journey to screening

We then had a talk from the daughter of the man who invited the newborn screening of PKU's - Robert Gruthrie. 

She talked about her fathers passion for getting the screening out to doctors and hospitals, as a father of a PKU child, the only tests that were done was at the age of 2, which by then was far too late to stop any of the affects of brain damage on PKU's. When he discovered that PKU can be detected through a test of the blood of a newborn, he was passionate about making sure every new born was tested. In America in this was very difficult to do as the doctors did not want to be told what to do, even though the parents weekend fully supportive of the screening, as they had already had children with the damaging affects of untreated PKU and they knew if they had another one, the same thing could happen again.

Robert travelled the world making sure every government saw that this new born screening was vital to every child born. 

When he died in 1995 a scholarship was made in his name, supporting young people who wanted to learn.

This was an incredibly touching talk as Patricia said when her father was researching and travelling the world, she never really knew the affect he was actually having as it was all normal to her and nothing out of the ordinary. 

She said coming here, she saw a young child running around having fun with his parents and she realised her father was the reason that child was healthy. 

At this point I was in tears as this made me realise the personal impact this man had on my life, this woman's father was the reason that I am now a functioning happy adult, he is reason I am not heavily brain damaged and I can cope and understand my diet from a young age.