Isaac was diagnosed with CF when he was three weeks old, following a standard heel prick test at five days old. The test was repeated at 10 days old and we were told this was because of an unusual result, which was probably a false positive. All would be groovy. But those days that fell between were the hardest days of our lives so far; The not knowing was hell; I was 27, and Dan a year older. We were first time parents, and really had little to no experience of babies full stop. We spent days second guessing symptoms that we felt he may or may not have, but had no idea of 'normal' to compare this to. People often assume there must be a family history of CF, but this is rarely the case; it affects one in 2500 live births, one in 25 people are carriers of the recessive mutation, and if both parents are carriers, there is a one in four chance of the child having CF. Genetics lesson over; In the end, I think we knew before we were even told (by accident by a health visitor, over the phone, while I was home alone and Dan out playing football. I understand how we use the word 'crumble' now, because that's exactly what I did, in a heap of tears on the floor). I remember very little of that whole time but this horrible sense of falling into a dark hole. Heartbroken and yet completely in love with our little boy, and a huge sense of WHY HIM? AND NOT US? And then, a little later, an OK, bring it on! Let's get him well, learn all we can, and be his biggest champions.
As people often ask me (especially those terrified few, awaiting a diagnosis like we were once), his early symptoms were; No weight gain, salty skin, green and oily stools, and his very first poo (which we had been told by other parents would be like tar) rolled out of his nappy like a golf ball after many hours of screaming (this was our first night home with him, and we had no idea how to console him, and assumed we were just rubbish parents. A midwife we only refer to as Mary Poppins came in the morning, and when she reassured us that he was OK, I wept in her lap. Only he wasn't OK.) And later, a persistent cough.
At 8 weeks old he caught Bronchiolitis, a viral lung infection. This was not due to his CF, just shitty luck. But his CF did mean that it took him longer to bounce back, and he needed more aggressive treatment to recover. He was so so tiny, terribly underweight, and needed IV antibiotics and O2. We were in hospital for three weeks, and then needed to be seen in CF clinic weekly for some months. At 8 months old he caught it again. This time it took even longer, and we were in and out for some months, after a Bronchoscopy (camera into the lungs) made him more unwell.
But the point I am (very slowly) getting to is that apart from the Bronchiolitis, and a milk protein intolerance when he was a baby, which were just bad luck, Isaac has had a numerous other problems, and people often ask me if these are CF related, and the answer is, probably yes.
The gene affected by the Cystic Fibrosis mutation controls the movement of salt and water in and out of cells. People with CF experience a build-up of thick sticky mucus in the lungs, digestive system and other organs, causing a wide range of challenging symptoms affecting the entire body. For Isaac, this has led to problems with;
- Delayed growth (no longer a problem, in fact, we're currently rationing his Easter eggs!)
- Many lung infections, and most notably, colonisation of the evil bug Pseudomonas Auriginosa (meaning this bug has set up camps permanently in his little lungs... little bastards)
- Reflux (which in turn, infects his lungs)
- DIOS (Distel Intestinal Obstructive Syndrome)
- Nausea and vomiting issues
- Pancreatic Insufficiency (the duct from his pancreas was blocked by mucous in utero, and so the enzymes which breakdown fats and proteins in his food never reach his intestines, meaning he needs to take medication with everything he eats, while the pancreatic enzymes themselves attack his own pancreas)
- Decreased bone density
- Nasal polyps and sinus problems
- Immune deficiencies
- Posture problems
- The many weird and wonderful side effects of his many medications
Also, due to the number of medical tests that he has due to his CF, he has had investigations into scoliosis, heart scans, spine scans, simply because if doctors look at a body long enough, they'll spot a potential abnormality (all thankfully negative in his case).
The things he has yet to experience, but probably will at some point include; infertility (he can have children through IVF only), liver disease, diabetes, osteoporosis, hearing and kidney problems (due to huge antibiotic use), and most likely at some point....lung transplantation.
I guess the point I am eventually going to make is, that if you have a problem at such a level, in each cell, then the domino effect of that one mutation can be vast. Add to that the side effects of the many medications (high dose antibiotics and steroids especially), then you might as well sign up for an unfeasibly expensive annual pass at your hospital car park. That one tiny mutation, causing a thousand small problems. Like falling dominoes.
And this is why we need treatments that are directed at the actual underlying cause of CF; that movement of salt and water between cells, rather than treating only the symptoms of the disease.
There are two such drugs available to people with CF, Kalydeco and Orkambi. Each drug works only for a certain class of mutations (there are over 1000 CF mutations, but some are very common, others, very very rare). Kalydeco is available to the 5% of patients it works for in the UK now, but Orkambi is not, due to the cost. This would help delay the progression of the disease in some 40% of patients. Please sign this petition to help make it available to all who need it.
For us, our wait continues, as Isaac has some rare, class 1 (the most severe, they say) mutations which neither drug caters for, but it will come, and hell, we need to make it affordable for the NHS when it does.
