There is a battle looming between the families of people with Cystic Fibrosis (CF), the government, and the HSE, writes Jackie Keogh, who meets the mother of a four-year-old, determind to get access to a ground-breaking drug for her daughter
AT the end of January, the families of more than 600 Irish people with the DDF508 Cystic Fibrosis genotype, will know if a new wonder-drug ‘Orkambi’ is to be approved.
One West Cork mother, Deirdre O’Donovan, explained to “The Southern Star”: ‘Orkambi is the first drug that targets the cause of the mutation for this gene group.’
Parents like Deirdre are expecting another battle with the Health Service Executive (HSE) which has indicated its reluctance to pay for the drug because it would cost €160,000 per person per year.
They are, however, holding out hope that the Minister for Health Leo Varadkar will do battle on their behalf and that the people who would benefit most from this drug will receive it.
Deirdre explained that the Food and Drug Administration (FDA) in America, as well as Germany and France have already approved this drug. ‘We are just waiting on news that it will be approved here in Ireland.’
There are lots of ways to describe Cystic Fibrosis, but Deirdre puts it in stark terms: ‘It is like drowning on the inside.’
Cystic Fibrosis is a genetic, life-threatening disease that causes severe lung damage. It is a chronic disease that currently has no cure. In addition to affecting the lungs, it damages the digestive system, reproductive system and other organs.
The biggest difficulties are the threat of constant chest infections and malnutrition. It is an extraordinary cruel condition that impacts every member of a CF family. Families try to remain positive, but the truth is that CF kills young people.
The median age of morbidity for people with CF in Ireland is 30 years old, but many don’t make it out of their teens. Ireland has the highest rate of CF per capita in the world and the worst healthcare provision for CF in the developed world. Deirdre’s daughter was born at the end of January 2011 – six months before the heel prick test was extended to include a genetic test for CF.
When Deirdre brought her for medical attention her daughter was classed as a ‘high needs baby’ because she cried all the time and wasn’t gaining weight at a healthy rate despite feeding constantly.
She never napped by day and only slept at night in intervals of 60-90 minutes for her first two years.
Her mother said: ‘My concerns fell on deaf ears,’ so in July 2013 she demanded that her daughter be seen by a paediatrician.
‘At her first appointment, I was told she was a healthy girl,’ she recalls, but two appointments later as she was leaving, Deirdre told the doctor ‘she always has a taste of salt off her’.
‘Thankfully,’ she says now, ‘somebody finally listened to me.’
A sweat test was done and on December 17th 2013 Deirdre was told that her daughter had CF.
‘I went on autopilot that day and I am still on autopilot two years later. My husband and I were shocked and broken by the news, but there was so much more to learn to bring into our daily routine: treatments, medications, airway clearance, so many dos, so many don’ts.
‘I am determined not to fail my daughter. I became a nurse overnight. Most days I feel I am nurse first, then mother. I haven’t cried yet. And in the two years since the diagnosis, I have seen my circle of family and friends grow smaller.’
Deirdre actually gave The Southern Star an account of the daily routine and an account of the hospital visits and procedures, but it would fill a page and fill every reader with a deep and abiding dread.
Here is one line that shows how robust this four-year-old girl is: ‘She can give 13 blood samples without batting an eyelid. CF affects her physically, but also mentally. She has the strength, resilience and maturity of a person much older than her four years.’
Deirdre said she, personally, gets through their CF battle by ‘living with my head down.’
She said: ‘I take one day at a time and fight the fight in the moment. I work on following our daily regime of medications, nebulisers, airway clearance and physiotherapy. We do them faithfully every single day. CF doesn’t take a day off and neither do we.’ But come January, come the announcement, come the stonewalling and this woman, like the 599 others in a similar situation, will come out fighting. They have promised to do so.