CF family left in limbo due to contractual complication with 'miracle' drug 

Cork man Mark O’Keeffe and his wife Sarah and her seven-year-old son Charlie, who has CF. 

Thirty-five families across Ireland have been left in limbo after finding out their children won’t be able to access a life-changing cystic fibrosis (CF) drug for which the HSE sent them for extensive pre-drug testing, due to a contractual complication.

Cork man Mark O’Keeffe and his wife Sarah told her seven-year-old son Charlie, who needs a feeding tube due to his CF, that he had to undergo a battery of tests because he was going to get a new medicine that would make him healthier.

Three days later, after travelling from their home in Sligo to the Children's Hospital in Crumlin for the tests, Ms O'Keeffe found out from another parent of a child with CF that her son wasn’t going to get access to the drug, Kaftrio.

Ms O’Keeffe later learned this was because the contract between the HSE and the pharma company does not cover children under 12 with a rare genotype, though it does include children over 12 with the same genotype, and the same condition.

140 other children in Ireland who have CF but do not have the rare genotype Charlie has are now receiving access to the treatment.

Ms O’Keeffe said when she rang up the consultants in Crumlin on Monday to get some clarity, they too said they were shocked to find out that the 35 children with the rare genotype who were told they could receive the treatment weren’t going to be able to due to a “contractual issue.” 

Speaking on C103's Cork Today Show, Ms O’Keeffe appealed for the Government to iron out the contractual issues so Charlie can access the "miracle" drug.

The drug is not covered for children under 12 with a rare genotype, like Charlie. 

She said it could improve her son's health long-term "and even eliminate the need for a feeding tube, which means he has to be careful all of the time". 

The 42-year-old mum said the company that produces the drug, Vertex, has offered to cater for all the children who need the drug in Ireland at the same price it agreed with the Government in 2017.

A month after Ms O’Keeffe brought Charlie to Crumlin for the pre-drug tests, the HSE issued a statement which said they “continue to engage” with Vertex “with a view to addressing the significant additional budget impact to the State proposed by Vertex to enable access to Kaftrio for this patient group.” 

Ms O’Keeffe said this is the only communication she and the other families affected have had from the HSE on the issue, and that no one has apologised “for giving us hope and then taking it away again.” 

MS O'Keeffe, who is originally from Canada, said that every day Charlie and the 34 other children affected go without accessing the drug will impact their health.

“What Kaftrio does is it tricks the body into thinking that it does not have cystic fibrosis, it’s a game-changer. It can’t reverse the damage already done to someone’s body, but it can halt their deterioration which means less transplants, less hospitalisations, and less medication.

“I would only tell my son that we were going to go to the park at the weekend if we really were, I wouldn’t want to get his hopes up. It’s the exact same thing with this medication, I told him that it could help him get stronger so he could do more of the things he loves one day, like playing soccer without worrying that his feeding tube might get knocked out."

She added: 

The worst thing the HSE has done here is make us think that he was ever going to be able to access the drug at all, we started thinking about everything differently, with more hope.

Ms O’Keeffe gave up work as a corporate secretary in 2019 when she found out that Charlie was going to need a feeding tube as his CF means he cannot absorb calories in a normal way, making it hard for him to gain weight and grow.

“Charlie suffers with pancreatic insufficiency more so than with his lungs, and what that means is he cannot absorb calories normally.

Charlie's mother Sarah said the HSE "needs to get this sorted". 

“When he was five years old we were told that his BMI was at a zero percentile and that he would need a feeding tube. That hit me extremely hard. I felt like it was my fault that I couldn’t feed him as a mother,” she said.

When the O’Keeffe family were told Charlie was eligible for Kraftrio his mum thought that maybe she could return to the workforce.

“Mainly I want to see his health be as good as it can be. He is a fun, lively kid and he loves swimming, karate, and soccer, but I am always worried about him because if he feeding tube got knocked out and we didn’t act quickly enough, he would possibly have to undergo surgery.

“I am always watching him to make sure he is okay, because he can’t play like the other boys at break time in school because he’s scared of what would happen if he took a knock,” she said.

Ms O’Keeffe and her husband Mark are asking the Government to speed up the process and help Charlie and the 34 other children who are affected by this issue access this treatment.

“We should have never been put in the position where we thought it was going to happen if it wasn’t in the first place, now the HSE needs to get this sorted to give Charlie and the other children in this group the best shot at life they can possibly have.”