Drug for rare metabolic condition 'completely changed' young girl's life 

Lola Lambe from Cobh, who was diagnosed with a very severe form of PKU, has been taking PKU drug treatment Kuvan since February, which her mother says has had  a phenomenal impact on her quality of life

PKU sufferer Lola Lambe at home in Cobh. Picture: Eddie O'Hare

An 11-year-old Cork girl has had her life “completely changed” after receiving the only drug treatment for a rare metabolic condition, known as PKU.

Phenylketonuria is a genetic lifelong disease, diagnosed at birth by the heel prick test, that affects a person’s metabolism and impacts their ability to break down protein.

Ireland has one of the highest rates of PKU, which requires sufferers to adhere to a strict low-protein diet in order to avoid irreversible mental and physical disabilities.

Lola Lambe from Cobh was diagnosed with a very severe form of the condition, meaning she could only have 4g of protein a day.

Lola Lambe with her mother Hazel. Picture: Eddie O'Hare

Lola’s food mainly consisted of a synthetic protein drink, and low-protein food from the pharmacy. 

“The cheapest ham that you wouldn’t even touch would be two or three exchanges so that would have been her entire amount for the day. She can’t have chocolate. At a children’s birthday party, when all of the children are having chicken nuggets and chips, she could only have six chips,” her mother Hazel explained.

"The biggest shock to us is, you think you’re well up on nutrition and to me protein was meat, fish eggs, nuts, pulses but there is protein in everything. Regular pasta, regular bread.” 

However, in February Lola began to receive PKU drug treatment Kuvan, which the HSE agreed to fund in 2019.

Ms Lambe said the drug has had such a phenomenal impact on Lola's quality of life.

"It has just completely changed her entire life. She went from 4g of protein and she’s now on 17g. Now, it’s far, far easier for us. 

"If we were out anywhere, we could never on spec do anything. We always had to plan. But the other day we were out and we decided to sit down at a pub and get a drink. We were able to get her Tayto crisps in a pub, which have 2.5g of protein. 

She added: "She would never have been able to do that before. It felt fantastic. She has that little bit of freedom now."

Lola Lambe. Picture: Eddie O'Hare

Kuvan received regulatory approval in 2009, but was only given approval for HSE reimbursement in 2019, having previously been twice rejected under cost-efficiency grounds.

The National Centre for Pharmacoeconomics had previously estimated the five-year cost to supply the drug at €12.66m.

The prevalence of PKU in Ireland is one in 4,500 babies, twice the average in the rest of Europe.

Speaking on PKU Day, Bernadette Gilroy, newly appointed chairwoman of the PKU Association of Ireland (PKUAI), said there is a need for research to be carried out to better understand the lived experience of people with the condition.

“As a patient organisation our mission is to secure lifelong care and address the ‘unmet needs’ of our community members,” she said.

Dr James O’Byrne, a consultant at the National Centre for Inherited Metabolic Disorders at the Mater Hospital, said PKU Day serves as a reminder that physicians "must continue to strive for excellence in all facets of patient care for people who have PKU and other rare diseases”.