Downpatrick family battle for their son

Downpatrick family battle for their son

13 February 2019

LITTLE Lorcán Maguire has not been hugged or held by his grandfather since he was a few days old.

His maternal grandfather, Dr Ian Banks, has the bacterium, pseudomonas, as a result of having the lung condition, bronchiectasis.

That means his caring caress could potentially prove fatal to his first grandchild, Lorcán, who has cystic fibrosis.

This is just one of the everyday realities facing Downpatrick couple Jen Banks and Dermot Maguire as parents of a child with CF.

Lorcán is their first child and while they now know they are both carriers of the genetic condition which impacts on lungs and other organs, their youngest child, seven-month-old Saorla, thankfully does not have CF.

“On the island of Ireland one in 19 people are carriers of CF,” Jen said. “When two carriers come together, like me and my husband, there is a one in four chance that your child will have CF, so Lorcán was unlucky.

“There was nothing in our families to suggest that we might be carriers, but since Lorcán was born a lot of our family members have been tested and found that they are also carriers. I think that most people who are carriers are walking around unaware they are.”

The standard heel prick test that was performed on Lorcán, as on all babies within their first week of birth, came back suggesting that he had CF.

“The health visitor and then the doctor called at our home to tell us the news, which was really nice of them,” recalls Jen. “The next day we went to the hospital to get a sweat test done on Lorcán, as CF sufferers have a higher than normal amount of salt in their perspiration, and that test proved it.

“It was totally shocking and we were completely floored. But then we were told that there a new drug that could really help Lorcán. Ever since then we have been campaigning to get it available not the NHS.”

Lorcán’s parents believe that his taking a new drug, Orkambi, as soon as possible, will enhance and extend his life.

The only problem is that Orkambi — the only drug of its kind available for Lorcán’s gene type — is not available on the NHS. It can potentially treat 40% of all patients with CF.

In 2017, there were around 486 active patients with CF in Northern Ireland (281 adults, 205 children) so the prospect of funding the treatment of all is extremely expensive.

Orkambi’s developer, the US firm Vertex, has so far failed to come to a agreement regarding price with the UK’s National Institute for Health Care and Excellence (NICE). 

It currently costs £104,000 a year to treat a patient which makes buying the drug privately out of reach of the vast majority of families.

The situation is made even more frustrating by the fact that the Republic of Ireland bowed to public pressure and introduced Orkambi free of charge to patients in 2017.

Next month it will be extended to patients aged from two to six years of age.

The family are within weeks of moving to Louth so that Lorcán can start Orkambi as soon as possible. 

“My parents have put on an offer on a house which has been accepted and I suppose we will move once everything is signed and sealed,” said Jen.

“We are still hoping that we won’t need to go which is why we are campaigning like mad. But we will go as I want to get Lorcán on the drug as quickly as we can.”

Time is of the essence as Lorcán suffered a lung infection, pseudomonas, over Christmas. 

“This is potentially life-shortening,” said Jen, “and I know that if he was on Orkambi his likelihood of getting it again would be greatly reduced in the future.”

“At the moment, all of Lorcán’s treatment is concentrated on treating the symptoms of CF, not the underlying cause. He takes 25 tablets a day and that includes antibiotics, vitamins and enzymes as he can’t digest fat or protein so he needs those every time he eats “He also has two to three sets of physiotherapy a day and he also gets four sessions of being nebulised with different drugs.”

For those who die with CF it’s down to a deterioration of lung capacity, but Jen says that Orkambi actually treats the condition at a cellular level.

“Orkambi not only slows the decline in lung function by up to 42%, it also reduces hospitalisations by up to 61%,” she added.

“Every day people go without access to these drugs is a day in which their body could become more damaged. Life expectancy for children born now with CF is mid-40s — my own husband’s age. That’s far too young.

“The latest trial on six year-olds and upwards shows an extra 23 years of life expectancy, so I don’t know how much more that could mean for two year-olds.”

Jen and Dermot hope that a planned meeting with Department of Health Permanent Secretary Richard Penegelly next week will lead to Orkambi being made available soon in Northern Ireland.

She is urging people to sign the petition to government to license the drug in line with 11 other EU countries.

To petition the Government to debate the introduction of Orkambi on the NHS please visit https://petition.parliament.uk/petitions/231602.