Mum campaigns for drug to help her twins

September 30 2019

Mum campaigns for drug to help her twins

A MUM is campaigning for a drug which 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, who lived in Downend for 30 years, 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 the manufacturer has made it so expensive it is very rarely available on the NHS.
Leanne, 43, 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 are born with PKU each year and there's no cure. Instead sufferers have to stick to a very strict diet which drastically limits their intake of protein.
Leanne, who attended Blackhorse primary before going to Mangotsfield School, 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.
“It's horrible stuff. It's really, really difficult to get down them but if they don't have it, their levels will go high.”
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.
“It's extremely stressful and hard, you can't live a normal life. You can't go out for a meal or on holiday. We were going to go abroad but you have to get a letter from the dietician to get permission from customs to take their food. You have to buy more baggage allowance as everything has to go with you. Not all restaurants or hotels will let you bring your own food. We've been for meals and asked if staff can warm up the girls' food as they can't eat anything from the menu. We've been told sorry, it's against health and safety rules.”
Leanne said the condition has taken over her family's lives.
“It's on your mind 24/7 - you have to basically be a robot. You get up in the morning and give them their supplement. It's hard enough getting it down one of them, let alone both children. I'm constantly thinking about their food and have to weigh everything that they have. If something drops on the floor, I have to reweigh it to check to see how much protein they've had.”
Most of the girls' food is made from an 'all purpose mix' which Leanne has to get on prescription.
“From that I've got to make bread, pancakes and waffles. Everything has to be made from scratch and you're constantly thinking of different things you can make so their diet is as varied as possible. 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 so sufferers can get it on prescription it and go on to lead normal lives.
Leanne's MP Chris Skidmore has backed her campaign.
He said: “As a father myself, I can appreciate how hard it must be to raise children and have to deal with the impact of PKU at the same time. I look forward to supporting Leanne in her campaign to raise awareness of PKU and will be taking this up with my ministerial colleagues as soon as possible.”
You can support Leanne and her family by adding your name to the petition at https://bit.ly/2KK0vNz

Family's fundraising event

LEANNE is organising a fundraising event next year at Cleve Rugby Club in Mangotsfield.
The family disco and raffle takes place on Saturday March 28 from 6-11pm with proceeds going to the National Society For Phenylketonuria United Kingswood (NSPKU).
Entry is £2 and includes a buffet with low-protein foods. Raffle tickets can be purchased in advance or on the night.
For more information and to purchase raffle tickets email leannepkufundraiser@gmail.com
If you are unable to attend but would like to make a donation, please visit Leanne's Just Giving page www.justgiving.com/fundraising/leanne7976