Story
In June I am going to be skipping a minimum of 1000 skips a day to raise money for the NSPKU (wish my joints, muscles and pelvic floor luck !).
I will be posting updates and skip counts here and on my Facebook.
This is a charity very close to my heart.
My eldest son William was born in 2018 and diagnosed via the Heel Prick Test on day 8 of life with PKU (Phenylketonuria)
Phenylketonuria (PKU) is a rare metabolic disorder. People with #PKU cannot metabolise phenylalanine, an amino acid found in protein. This builds up to levels that are toxic to the brain. PKU is diagnosed by the “heel prick” new-born screening test.
PKU is a treatable condition. If not correctly treated it results in severe and irreversible brain damage. Treatment by restricted diet has been shown to be effective.
The standard treatment for PKU is a low phenylalanine diet. The PKU diet involves removing almost all natural protein from the diet and utilising prescribed medical dietary products to ensure adequate nutrition. The PKU diet is complex and very restrictive.
Research into PKU and new treatments is still ongoing.
The NSPKU has been supporting families and patients since 1973 and is a vital resource for the PKU community.