Battle for drug to help twins
A MUM from Kingswood is campaigning for a drug that could help her twin girls lead a normal life.
Leanne Barnett was told she would never be a mother after trying to conceive for 17 years.
When Olivia and Ruby came along after IVF treatment, she and husband Peter were overjoyed.
But a routine heel prick test following their birth revealed the girls had a rare genetic condition called phenylketonuria - known as PKU – which means their bodies can't break down protein properly.
Leanne said the family's world has since been turned upside down as they learn to cope with the condition, which could lead to brain damage and learning difficulties.
The girls, who are now 22 months, have to adhere to such a strict diet that it means going on holiday and eating out is fraught with anxiety.
A drug, called Kuvan, can help them lead a normal life but it is so expensive it is very rarely available on the NHS.
Leanne, 42, said: “We had been trying for the girls for 17 years. To have them was amazing and you just think everything is going to be fine. To be told they have this condition was devastating.”
One in 10,000 babies is born with PKU each year and there's no cure. Instead sufferers have to stick to a diet that drastically limits their intake of protein.
Leanne said: “Ruby is on 9g of protein a day and Olivia 8g and will be for the rest of their lives. To put it in perspective, the average person is on around 40-50g a day.”
If the twins exceed their quota, their protein levels will rocket and long-term this can cause brain damage, learning difficulties, anxiety, depression and behavioural problems. Because the girls are absorbing such a low amount of protein, they have to take synthetic protein three times day.
Leanne also has to take her daughters' blood every Friday and send it to Bristol's Children's Hospital where they test it and ring her with the results.
Leanne said the condition has completely taken over her family's lives.
“It's on your mind 24/7. It's extremely stressful and hard, you can't live a normal life. You can't go out for a meal or on holiday.”
“I don't go shopping any more, I do it all online. I would be in a supermarket for hours because I have to check every food label.
“It's been even more difficult since the twins have been attending nursery and are away from home. I don't let them go at meal times, only snack times and then I have to weigh what they can eat, put it in small containers and write on them how much they're allowed to have.
“Because it's such a rare condition people don't fully understand it so when they're away from me I panic in case someone thinks they can give the girls something extra, but they just can't have it. It's a constant worry - if they have something they shouldn't the outcome could be horrendous.”
Leanne said the only hope her girls can lead a normal life is if they were prescribed the drug Kuvan.
“It doesn't work for everyone but the only way we would find out is to try it. It's not a cure but it would mean their bodies could tolerate more protein. I've known people with PKU being on 8g of protein a day and then being able to jump up to 45g, which is just a normal diet.
“The NHS won't fund it because it's too expensive. It's available but you have to pay for it and I've been told it could cost £50,000 a year for each of the girls. I can't afford one year, let alone for the rest of their lives.”
Leanne has put her name to a petition set up by Barbara McGovern whose son Archie has the condition. She is calling on drug manufacturer BioMarin to make Kuvan more affordable to the NHS.
You can support Leanne and her family by adding your name to the petition at https://bit.ly/2KK0vNz