There is no cure for phenylketonuria or PKU and for mother Leanne Barnett - it’s harrowing. Both her twin daughters were born with the rare genetic condition and the cost of treatment is exorbitant. Barnett’s only recourse is to campaign for affordable treatment, through an online petition that would ultimately make a massive difference in the family’s life, as reported by BBC News.
Family Doctor explains, PKU is a rare genetic condition in which babies are born unable to break down an amino acid called phenylalanine. Subsequently, these levels intensify. Excessive levels of phenylalanine may cause damage to nerve cells in the brain resulting in both intellectual and developmental disabilities. A newborn screen blood test is taken from a baby's heel at or as soon as possible after 48 hours of age to determine whether a baby has inherited PKU.
The U.S. Food and Drug Administration has approved the medicine sapropterin dihydrochloride (Kuvan) for the treatment of PKU, which assists the body in breaking down phenylalanine - although its effectiveness is limited. The medication only helps some and what is more, for those it essentially helps, the decrease of phenylalanine is not significant. The medication must be taken in conjunction with a low - phenylalanine diet; foods that contain protein. Regardless, Barnett’s daughters Olivia and Ruby, aged 21 months may never know how they will respond to Kuvan.
Barnett resides in the UK and believes they are the only country in the EU where Kuvan is not available - due to the seemingly extortionate cost. She has been quoted up to £75,000 per twin for a yearly Kuvan prescription. A petition calling for the drug to be made more affordable and available through the National Health Service in England (NHS) has received over 16,500 signatures. The drug campaign has the potential to be life-changing.
Barnett has quit her job as her daughters require unique attention - it’s imperative she be with them to monitor their diet, ensuring a vigorous and meticulous regimen. The diligent mother clarifies that she must check labels on everything that they eat or drink, and weigh their food as they are only permitted eight or nine grams of protein a day. The natural recommended daily amount of protein for a toddler is 13 grams. Barnett currently receives low-protein food for the twins on prescription from the NHS and bakes her own low-protein bread. Kuvan would fundamentally help her twins metabolize phenylalanine, which is found in some proteins.
We hold out hope that Barnett and her two daughters will be given the gift of a better life - despite the incurable disease. She implores that the US company developing Kuvan will make the medicine available to her twins who deserve a fighting chance and also make purchasing the medication feasible, so she too will have a fighting chance - of helping her daughters survive.