Recently, I had the pleasure of speaking with Katherine Robins, a parent and passionate fundraiser in support of Cystic Fibrosis (CF) research. She was keen to share her story with our community in the hope it would inspire others to join our fight this Christmas.
Her story begins on a happy note. After spending six years trying to conceive, it was at their very first IVF appointment that she and her husband Chris found out they were having a baby, naturally. It was such a surprise. Their long-awaited dream of becoming parents was finally coming true.
Katherine had the most perfect pregnancy and at 37 weeks James entered the world with a hearty cry, “When he was born the first thing James did was scream but then immediately after, he stopped breathing. He was rushed to the Neonatal Intensive Care Unit (NICU) and later moved to the special Care Unit (SCU). We were told James had something called secondary apnoea, and he needed constant support with breathing. As a new parent it was terrifying, we didn’t really know what was going on, ” said Katherine.
The hospital sent Katherine home three days after she’d given birth, without James. He remained in NICU because he wasn’t putting on weight and still needed assistance with breathing. Finally, after 16 long days James was allowed to go home, however that happiness was short lived.
“A week after we came home, we got a call from the hospital to inform us that the heel prick test was positive for a carrier of delta 508, a CF gene. They told us not to worry, that James was probably just a carrier and we booked in the following week for a sweat test. The night before we were due to get the results, I was shocked to see my Doctor on TV talking about genetics and CF and I took it as a sign. I just knew seeing our Doctor on Insight, which is one of my favourite shows, that James had CF. The next day we got the call just after 11 o-clock. They told us we needed to come to the hospital and I said… ‘he’s got it doesn’t he?’ and they said ‘yes’ – it was like a New York minute and then everything just fell apart.”
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Katherine shared with me – “the Professor at the time told us James didn’t have double delta 508 and that we should be really happy about that because it was quite a bad class, and hopefully it was going to be less severe. Turned out the Professor was wrong, James had it much more severe.”
From that moment on, the Robins family started a brand-new journey and it wasn’t one that had a foreseeable end.
CF is the most common, life-limiting, inherited disease affecting the developed world, with one in every 2,500 children impacted. From birth, the treatment and management of CF is life–long and intensive and currently there is no cure.
Katherine describes the early days as a blur, “James fed every two hours continually for 18 months, I ended getting severe adrenal issues. Chris and I have no parents, so we didn’t have much family support. We both really struggled emotionally, particularly with the dream that we finally had a family and our plans of travelling overseas, and working overseas were no longer an option. We knew things had to change straight away.”
The next few years were particularly hard recalls Katherine, “James didn’t receive his first cough swab until he was around 14 months old. It revealed he had Pseudomonas.” Pseudomonas is one of the most common bacteria found in people with CF. About half of all people with CF have Pseudomonas and once it’s established in the airways, it’s very difficult to eliminate. It can develop into a long-term infection, resulting in a decline in lung function.
CF is a multi-organ disease affecting the lungs, gut, nasal cavity, liver, pancreas and reproductive tissues. It impacts the system responsible for producing saliva, sweat, tears and mucus and can lead to malnutrition, as well as dehydration due to abnormally high sweat sodium and chloride levels.
Katherine says, “People with CF generally struggle to put on weight and that’s been the case for James. I work very hard to maintain his diet, but unfortunately no matter how much we try to feed James he just doesn’t put on enough weight. He now has a low-Profile gastrostomy feeding tube (G-Tube), better known as a MIC-KEY fitted to his tummy, which allows him to receive additional feeds directly into his stomach throughout the night while he’s sleeping.”
Everyday life for the Robins family is hard work. Katherine had to give up her permanent position to care for James full time. “I tried to return to work when James was three, we got a private nanny because he just couldn’t go into day care, but it didn’t work. I had so much time off and I was only working two days a week. James has already had about 40 days away from school this year. I have to be available all the time. Chris works full-time as a plumber and does as much overtime as he can, but for both of us CF is a job and It’s relentless.”
For James, living with CF is all he’s ever known. Katherine describes what a normal day looks like – “As soon as James wakes up, he’s inhaling his medication through his nebuliser. That’s followed by 100 rounds of positive expiratory pressure, also known as PEP, which helps clear the mucus build-up in James’s lungs, and then more inhaled drugs before breakfast. At breakfast he takes his enzymes and morning tablets, depending on what medication he’s on at the time. After breakfast is his asthma puffer and nasal spray. He then goes to school and has further enzymes and tablets throughout the day. After school we do another 100 rounds of PEP and then more inhaled medicine, followed by another inhaled nebuliser just before bed and then again, a nasal spray and a puffer. By then end of the day James has consumed around 40 tablets. It doesn’t finish there though, while he’s asleep, we’re feeding him through the tube in his tummy. We do this every single day of the year.”
Surprisingly, with the adversity he faces James does not hide the fact he has CF. “James is definitely aware he has CF, and he’s quite open about it. After his first surgery to insert his MIC-KEY, he spent three months having to go to school with a boob tube around his waist to protect a 30cm line protruding from his belly. He just gets on with it, there’s no other choice really.”
The devastation of CF is that it takes your life well before that of an average Australian. James doesn’t know his average life expectancy is just 38 years. Nor do his parents plan on telling him for as long as possible. “We just say you’ve got dodgy lungs, you’ve got a dodgy pancreas, dodgy polyps and so on and then we point out everybody else’s differences too, like daddy’s got dodgy eye’s and mummy sometimes has a dodgy tummy. We often do a lot of dialogue around that, so he understands everyone has different things going on in their lives. We’ve really tried since his birth to encourage gratitude for what we do have and an acceptance, that we’ve all just got things to deal with,” says Katherine.
It’s that approach that keeps Katherine and Chris united. “We’ve nearly split up a couple of times, but we see a counsellor when we can. We deal with the pressure very differently. I am the investigator, I go into overdrive and I research, and I look at every little thing to help the liver, to help the diabetes, to help the polyps, whereas Chris probably goes into his shell more. It’s his way of dealing with it, he’s already lost his mum and dad and his brother. It’s hard and sometimes we’re just so exhausted we don’t have time for each other, it’s heartbreaking. But we have the same family values, and at the end of the day we want to be a family. We try to look at what we do have and not what we don’t.”
Katherine’s thoughts turn to the recent announcement of CF drug Orkambi being added to the Pharmaceutical Benefits Scheme (PBS). “James can’t take Orkambi, so it doesn’t affect us. It’s bittersweet really, I’m happy for my friends’ children that have access to it, but for other friends and for us it’s really hard. There’s a proportion of us that are terrified they’ll stop looking for a cure, it’s petrifying. Friends have already been pulled off the drug because of the side effects. One of my friends declined so quickly after starting, she went straight to a transplant in months. Friends saw in the news this so-called wonder drug and asked if it was right for James. I had to say no, because a lot people don’t understand there are many different classes of CF and I tell them it’s not for his type of CF.”
Cure4 Cystic Fibrosis is the only Foundation in Australia solely committed to funding CF research. For the last two years we have delivered the greatest source of funding, outside of the Federal Government in support of cystic fibrosis research and development.
Will you give a gift this Christmas and ensure life extending therapies and cures can be accessed by all those suffering from this terrible disease?
I asked Katherine in the face of such heartache, was there anything that brought them joy, “We’re really into camping. We love to go to off road, Moreton island or Stradbroke island. That’s our thing. We are at our happiest and feel most relaxed when we’re camping, I guess the beach and the sea air has that effect. We do cancel a lot though, which causes a great deal of disappointment. James gets very frustrated that he has to miss out. He can’t just come home and have a swim like he wants to. He has to come upstairs and do his treatments first. He wants to play with the boys in the street, who he just adores, but often I’m telling him he can’t because they’re sick. He really struggles with that. He’s very, very, social and he loves to play. If something gets cancelled because somebody is sick, or he’s sick then he gets very distraught. He is displaying anxiety now, especially before treatments. He’s had a lot of pain and a lot of surgery, he knows before he has to get a port flush the pain that he’s going to be in and he loses it. We’ve spent a lot of time with the Occupational Therapist and Counsellors. He does ‘Sand Play’ which is counselling for children and that helps.”
In his short life, James has been admitted to hospital 17 times, with each admission lasting around 14 days. That’s 238 days spent in a hospital room away from his friends and family, his school and the things he treasures most. He’s missed out on so many special moments over the years.
He even spent Christmas day in hospital – which every year is a very real possibility. At a time when children should be surrounded by loved ones, full of excitement and thoughts of Father Christmas, it’s instead replaced by fear, uncertainty and worry.
Your donation today means we can fund the very best CF translational research across Australia. Research that allows families like the Robins, to begin to imagine a future free of this terrible disease.
The more funds we can offer in grants to the research community, the more researchers can work on their projects, the faster they can make progress.
Dr. Noel Chambers, CEO – National Foundation for Medical Research and Innovation (NFMRI) says “We are excited to partner with Cure4 Cystic Fibrosis and manage and administer grants on their behalf. Our point of difference is our focus on effective research supporting translation, which in turn will deliver benefits to the CF community.”
Despite CF, James is a typical 6-year-old boy. He loves his bike and jumps at the chance to go to the scooter park. He loves dress ups, and Lego. He’s an active boy and is often found jumping on his trampoline. Katherine say’s “he’s obsessed with being a Ninja and loves to dress up in karate clothes. ‘He’ll start karate in the New Year, it’ll be good for discipline,” she laughs. But where Katherine takes the most pleasure in her son, is his silly sense of humour, ‘He’s such a typical boy, he loves toilet humour and in spite of the crappy cards he’s been dealt, he’s really a cherished little boy, trying so hard to be happy.”
This Christmas please give your most generous gift. We know you care about supporting CF research, because you have done so in the past and we can’t thank you enough.
We believe that a future without cystic fibrosis is within our reach and with your help, we can invest in the best CF translational research across Australia.
Thank you, on behalf of the Robins family for taking the time to read their story.
Cure4 Cystic Fibrosis Foundation
“The Professor told us James didn’t have double delta 508 and we should be really happy about that because it was quite a bad CF strain and hopefully it was going to be less severe. Turned out the Professor was wrong, James had it much more severe.
Katherine Robins – James’s Mum