Flying visit

We are home from a quick admission (DIOS related) where everything went pretty OK. We had hoped his tummy problems were somewhat behind us, as he hasn't been admitted for this in over a year now, but hey ho. He has a CT scan this week, and a DEXA scan and CF clinic next week, so it's still pretty full on CF-styley right now. But the main thing is he is feeling much better. Plus he is dropping three medications (which seem to no longer work for him, at least for now, he may just need a rest from them) and gaining just one new one. It's very rare for us to reduce his prescription list. We really need this one to work (the alternatives are a lot more invasive).... It does sometimes feel like we've patched him up, but only for now. Anyway, it's not all bad being in hospital, we always have some fun too. He is the best company! This time, he was hooked up to an IV line all day, which for a change had some pretty sturdy wheels on it, so he skated down to the concourse on its wheels to a series of funny looks (we both find commotion he causes pretty amusing... yes, sick people have fun too!). He loved making a short film of our day, and here are some stills from that. We are feeling hopeful and happy. Have a great day x

    

Spinning plates

My week; Doctors appointments for two of the kids. One blood test. One lovely friend leaving work. One parents evening (during which the first teacher I saw kicked off with 'Isaac misses a lot of school....'. Yeah? No shit Sherlock). One mad dash to the hospital for X-rays and to see Isaac's consultant.... resulting in one admission to hospital (tomorrow). Most busy at work I've been all year, Monday deadline looming. Did I mention that I also work full time now?

I walked out of school in tears; mostly Isaac does OK, but he misses so much he struggles. I feel both proud that he manages to keep up as much as he does, and gutted that he has to just keep up.  Now my tears have turned to frustration, my head is spinning and screaming 'Why do people vote UKIP/Tory/Trump??? Why the hell do people fly-tip? Why do people walk/cycle/drive SO slowly whenever I'm in a hurry? Why do people wear trainer sandals? .....but mostly, why is it just one thing after another for our lovely boy?'. Tonight is very much a gin night.

My eternal adoration goes out to our amazing CF team, especially our consultant, who saw us first thing, out of clinic time, and came to our rescue once again. She spent a long time with us talking about our options, and checking first with her colleagues from Gastro for a second opinion, and chasing up ENT for his surgery date. Also X-ray who got us in and out within 10 minutes, and the ward which rang me shortly after with a check-in time for tomorrow morning. We hope this admission will be a flying visit. Less ranty updates to follow. Whatever way you vote in this general election, I urge you to check their policy on the NHS and consider this very high up on your agenda; It's at the top of mine. We will all need it one day, and we need to protect it.

CF dominoes

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. 

Freckles and noses.

It's freckle season around here, when the first few rays of sunshine splatter them over our faces. They have not inherited my auburn hair, but they did get the pale skin (poor kids) and freckles - Isaac and Rosa especially. I do love a freckle face. 

We're trying to get summer ready; packing the sun cream, planting the veggies, and exercising more. Dan and I are going for a very rare kid-free weekend soon to see a friend in Croatia and celebrate his 40th. This involves a boat trip around the coast.... the stuff of parental dreams! In my mind I see tanned, bikini clad women in nice sandals, sipping cocktails, dancing, and diving effortlessly into the sea. In reality I will be more white/blue skin, covered in factor 50, in an oversized T to hide the squishy belly, in tatty flip flops (but I'll take the cocktails, dancing and swimming anyway, 'cos I'm that kinda girl). I have a month to get (kind of) boat ready, and that involves getting the kids even more active too. Great stuff!

Isaac is doing well. He spent the first week of holidays at a CUFC day camp. He has a CT scan scheduled in a couple of weeks. The problems with his nose (CF related Polyps etc) are somewhat worse than I had hoped, and surgery is the only option. But he is keen, and the consultant was very encouraging. He is confident that Ise will have a massive improvement (as in... be able to breathe through his nose again). We're just hoping this can happen sooner rather than later now. It will no doubt mean more time off school (his attendance this year so far is at 83%). I must confess a hugely unprofessional (if being a CF Mum were a job) giggling episode watching the camera up his nose. From zooming into his face to a nasal cavity.... yikes! Thankfully we share the same humour, he wants me to record it on my phone next time. 

Found this blog powerful, scary, and very moving.
Also just finished a book by one of my all time favourite authors, Khaled Hossieni, And the Mountains Echoed, and actually sobbed on the train, much to the distress of the only other passenger in the carriage (it was late), poor guy! 

Happy holibobs all x
PS; And no, still no idea who our mystery donor is. Ever thankful x 

Something amazing has happened

....really truly amazing!

We haven't decided on our big fundraiser for this year (possibly Isaac and I are thinking of doing something together) but we always have a few things on the go (I sell my own candles, my Mum organises Bridge days, my sister is always doing runs....). We will be raffling off a case of bubbly at the 40th birthday party a couple of friends and I are having next month, for example. As such, I always have a couple of fundraising pages on the go at any time, and add to these as we go along. Anyway, you can see my latest page here. And it is here that something amazing happened yesterday.....

We received an anonymous donation for ....... £1000!!! 

I am quite literally gobsmacked, delighted, shocked, and a little bit in love with this nameless donor! I don't know what to say, other than Thank You so so much.

Re-watching this debate in Parliament tonight reminds me of how much more we need to do to find a cure, and yet also how much closer we are. Drugs that actually treat the underlying cause of CF rather than its symptoms, were just a pipedream when Isaac was born. Now they are a reality for some people with CF, and we need to keep the momentum going until all classes of CF mutations have that same opportunity, both in developing the drugs which will work for all, and working with pharmaceuticals to make them accessible without crippling the NHS.

ONE THOUSAND POUNDS CLOSER! I hope, like me, this news leaves you with that warm fuzzy feeling you get when you're reminded of all the kindness and hope in the world x