Thursday, 15 September 2016

Not doing so great

Posted by Mark

Wow! Nearly a year since the last post. I suppose that since then there has not been a great deal to report in terms of CF although that doesn't mean anything isn't happening - just that it's all been pretty much business as usual. At least until last week when we got some bad news at our clinic visit.

It was all fairly standard stuff although we did remark that we had really been feeling the strain of it all recently. Although all of Sammy's treatment has become routine it's still really a drag. We try to make things fun for him so we are always inventing games for physio and meds and try and be enthusiastic and upbeat but the truth is it is really really hard when he doesn't want to do physio or take some medicine, and we would absolutely love not to have to make him do it but we do and it just wears you down after a while. (Although he did have a lot of fun when he got to go to a trampolining class recently!)

Anyway, we were at a pretty low point already through sheer tiredness with cf when the Consultant broke our hearts by revealing that the labs had analysed one of his samples and discovered that his lungs were infected with Pseudomonas.

If you're familiar with cf you'll know that the lungs of people with cf contain thick mucus which is the perfect breeding ground for bacteria that can be seriously damaging. Pseudomonas is particularly bad because it is very good at resisting treatment and so can easily become a chronic infection and can really impact a person's lung function.

Pseudomonas is an environmental bacteria that particularly likes damp places like soil, lakes and ponds, wet sand and all the fun places that we would love to let Sammy play. We have tried so hard to reduce Sammy's exposure to this bug so it was a real kick to find that we had failed.

Because of the seriousness of the infection, our team like to hit it hard. In many cases people will be admitted to hospital for a two-week course of antibiotics. In Sammy's case however, he has been put on a 3 week course of a really vile-looking antibiotic called Ciprofloxacin and a 3 month course of nebulised antibiotics twice a day. This involves some careful administration and our nurse specialist talked us through using the various syringes, vials and powders needed to make up the medicine before putting it into a machine that turns it into a vapour that Sammy then breathes in through a mask.

Throughout the 3 months that he's on nebs we will send regular cough swabs and hope that the Pseudomonas has gone.

To have this extra stuff to do on top of our normal extra stuff is a real struggle. We have worked out that the only way to fit it in with work and school and nursery is to start the day around 5am. Unfortunately we haven't really worked out a way yet to clear all the other things that need to be done in the day/evening any earlier so we aren't getting as much sleep as we probably should.

It's hard

BUT we are glad that they caught it.
AND we are are pleased that we didn't have to have an inpatient admission
AND we're happy that he seems to be responding to the medication. He was definitely lacking in energy and wasn't quite himself and we now realise that was because of the Pseudomonas
AND Juliette and I have got each other and we are an awesome team.

Joseph of course is a brilliant big brother as always and is quite enjoying that when Sammy does his nebs he gets to watch Angry Birds cartoons on YouTube along with him.

Sorry for such a negative post but I just wanted to get it off my chest. To end on a positive note we had a lovely week in Bournemouth at the end of the school holiday (before we knew about the Pseudomonas) so here is a picture of us on a steam train!

Wednesday, 28 October 2015

New Beginnings

Posted by Mark

It has been nearly half a year since the last post and despite starting something many times I never quite got round to it so here's hoping that I'll finish this time!

The last post was about the Marathon and I am sorry to say that I haven't done a single run since then and now that the clocks have gone back it's very unlikely that I'll be venturing out after work to do any running.

Sammy continues to do well although he has just finished a lengthy course of antibiotics for a really bad cough that was probably the worst he's ever had. We took a cough swab and fortunately it didn't reveal any nasty bugs but it was not very nice for Sammy and of course we had to increase his physio and really try to increase his fluid intake which is a huge challenge for us at the moment. Still he is developing well, his language development continues to amaze us and he is just generally a wonderful little boy who is inseparable from his equally wonderful big brother.

Creative boys indulging in their shared love of drawing

Since the last post Sammy has begun pre-nursery and he absolutely loves it. It was a slightly worrying time because as anyone who has put kids through nursery knows, they tend to be pretty germy places! Prior to enrolling him we met with the nursery manager who luckily enough has a nursing background and so was already aware of Cystic Fibrosis and some of the associated risks. Shortly before he was due to start one of the Clinical Nurse Specialists from our team went to visit the nursery staff to talk and teach them about Sammy's needs and about medication and what he should and shouldn't do. So far it has gone really well Sammy is very excited every time it's a nursery school day. It has been a bit of a challenge for Juliette to try and work out how much creon to give for the school lunches but the lunch providers were very helpful and Sammy's key worker seems to have got the hang of it. At the moment his creon capsules are emptied onto apple puree on a spoon but he is learning to swallow them whole by practicing with empty capsules filled with Hundreds and Thousands and is doing very well!

As well as nursery, which is 3 days a week, he has started at 'Mini Musicians', a music session for toddlers which he attends once a week and also absolutely loves. We really want Sammy to be actively involved in music not only because it is a good thing in and of itself, but because singing and particularly playing wind or brass instruments have the potential to improve his lung function. He is already a very accomplished kazoo and harmonica player and there is always plenty of singing happening in our house (particularly as Juliette has also joined a choir!).

Cystic Fibrosis Trust

If any of you get the Cystic Fibrosis Trust's magazine 'Is' you will see an article based on an interview with Juliette regarding how our diagnosis went. Unfortunately, as is often the case with interviews it was edited and re-written so much as to bear little relation to anything Juliette actually said. (For a more accurate view, see here), but hopefully some readers will still find it helpful to them. You will also see Sammy in it quite a few times as they are advertising the new parents' pack that features Sammy on the front cover and throughout. You may also have received a fundraising flyer also featuring our little star:

A lovely surprise to receive this in the post

This was a really good project for us to be involved in and came about after the trust advertised on Facebook for parents to get in touch to discuss what information they would have found useful around the time of diagnosis. After much email and phone conversation between Juliette and Michelle from the CF Trust, a photoshoot was arranged to get some images for the pack and we had a lovely time with some excellent photos coming out of it.
You can download the pack here

Sammy and Joseph during the Parents' Pack photoshoot

When the pack was finished we were invited to the CF Trust's new offices in Whitechapel where we attended a presentation of the pack as part of an all staff meeting. Being just down the road from the hospital, we also dragged along one of our consultants and are hopeful that the proximity will be good for building stronger relationships between the CF Trust and our clinical team. It was great to see the place where so much work is being done to improve the lives of people affected by CF. 

At the Cystic Fibrosis Trust office

Speaking of the Cystic Fibrosis Trust, we are very excited that next week they will have an amazing new Information Officer working for them in the form of Juliette! Once she's actually started I'm sure she'll write a post about it but she has already attended her team's away day and came back very impressed with the work and dedication of the team that she will soon be a part of.

During the meeting that we attended, two doctors from the Cystic Fibrosis Foundation in America, Drs Campbell and Skach gave a short presentation on the type of research and developments that were happening on the other side of the pond and it was very exciting to hear about the mind-blowingly advanced work that scientists are doing to examine and hopefully address the cellualar and genetic problems of CF.

Around the same time I was fortunate enough to attend an event at Imperial College London where Professor Eric Alton presented the initial results of the current phase of the Gene Therapy Trials that I have mentioned a few times in this blog. We were all sworn to secrecy because the results had yet to be published in the Lancet. (It has now been and you can read the report here if you are into that sort of thing:  Gene Therapy Phase 2b)

Professor Alton did an incredible job of explaining really quite complicated information to the assembled audience of around 80 people who were predominantly parents of children with CF. The event was streamed on the internet for those who couldn't attend and Juliette was at home watching on the laptop. 

Juliette's view of the presentation (note the essential crochet supplies in the background)

The results showed a modest but significant improvement in lung function for those who had the gene therapy compared to the placebo group. There is still a long way to go before we will see any of this being available and there are further trails and the whole circus of pharmaceutical development and funding and approval before then but I really am very hopeful that we are on the way to a life-changing breakthrough in this area before too long.

Wednesday, 27 May 2015

Running the London Marathon to raise money for CF

Posted by Mark

I warn you now that this is a long post but lots of people have been asking how the Marathon went so here it is...

At 13.1 miles I took a picture of myself at the halfway point. I look tired. My eyes are surrounded by salt where the sweat that has been pouring down my face has evaporated. My legs and feet are sore and my right knee has been complaining for the last 10 miles. This was not how it was supposed to be. I was supposed to arrive at the halfway point fresh and ready for those final miles. As it was I had no idea whether I would even make it to the end. The realisation hit me that although getting half way is an achievement, in reality it just meant that I had to do everything I had just done all over again. Every. Single. Mile. The thought did not fill me with confidence.

Before long I was at mile 14 and into unknown territory; never before had I run more than 14 miles. This was also not how it was supposed to be. I should have made it up to at least 20 miles during training but several injuries prevented me making it that far so I was curious to see whether I'd finish and in what state.

The day had started well. The journey to the start line was an interesting experience. Almost the only people on the train platforms were marathon runners, easily identifiable by the red plastic bags they were clutching that contained whatever change of clothes or treats they might need after the race. As we got closer and closer to Greenwich and Blackheath more and more red bags appeared at every stop until the carriages were crammed with them. It was like rush hour on a bad day but with none of the anger or frustration, only excitement and camaraderie. From the windows of the train I could see parts of the course awaiting runners and spectators. We passed the marker for mile 17 with its arch of red and white balloons and I wondered how long it would be before I saw it again and how I would feel when I did. 

Arriving at Blackheath we were greeted by three blimps, green, blue and red floating above the park to mark the three different starting points. Hot air balloons were being inflated at the start line and I began to feel nervous. With a light drizzle, the damp grass smelt like the early morning car-boot sales that I remember from childhood. Once in the blue start area, my red bag was loaded on to the side of a big lorry which would be driven off to the finish line for me to collect later. A large screen was showing the build up to the elite race that was about to begin an hour before the rest of us would be getting underway and music was playing to keep people’s spirits up. Some people were doing energetic warm-ups while most were queueing for toilets. I opted for some gentle stretches and mobilisation exercises, not wanting to use up all of my energy too soon. With a couple of minutes to go before the start time I made my way to area number 9, right at the back of the starting line-up. With hundreds and hundreds of people in front of me it was clearly going to be a long time before I would get to cross the start line. Eventually we started to move so I discarded the tracksuit bottoms and jumper I had been wearing and shuffled along towards the start line, picking my way through everyone else’s discarded tracksuits and jumpers (all of which get picked up and donated to local charities). A few minutes later the road curved to the right and we sped up as we were able to cross the start line. The sudden change in atmosphere was incredible. Music was blaring from the starting gantry and crowds of people were cheering us on as we began our 26.2 mile journey. It really felt like I was part of something special and I just couldn’t stop smiling. There is a brief glimpse of me on the BBC coverage at this point and you can see just how happy I am.

All advice on how to run a Marathon centres on making sure you don’t go too fast too soon. I had set myself a target of between 10 and 11 minutes per mile and as I crossed the first mile marker I was pleased to see I was bang on 11 minutes. Through the next several miles I was doing almost exactly 10 minutes per mile and began to settle into the pace and try and take in what was happening. Although I consider myself very much a Londoner, most of the marathon route is through areas unfamiliar to me so for the first few miles I had very little idea of where I was. I knew that the early part of the course through Charlton and Woolwich was where my great-great grandparents had lived and where my great grandfather was born and grew up before going off to fight in the First World War so it was nice to finally get to see some of that part of the city. I remember running past what I assume must be Woolwich Arsenal and was impressed with its quiet grandeur.    

After around 3 miles the different starts converge and it was quite a sight to see a great mass of runners on our left flank come down the hill to run alongside us on the opposite side of the road before we fully joined together. The going was still good at this point and as we ran through the street I saw the first of many live musical entertainments. For the most part the musical acts along the route were in the form of bands – many brass bands, some steel pan bands, a magnificent bagpipe band but here in Woolwich was a lone figure standing in the doorway of a pub with nothing but a microphone and an amplifier singing a wearily slow off-key rendition of ‘Rocket Man’ by Elton John. It was terrible but I loved it. Seven miles in I saw one of the kerb crews from the Cystic Fibrosis trust and their cheers of encouragement gave me a nice boost. At some point things started to look a little bit more familiar as I realised we were in Greenwich and must be near to the Cutty Sark but after a quick circuit of the great clipper it was back into the unknown streets of Deptford and Bermondsey. I was starting to get a bit worried about my knee and wondering if it would hold up. I overheard a couple of women running just behind me talking about painful feet. One of them said ‘My podiatrist says if it’s just background pain then it’s ok – you can carry on’. I took this as a sign and decided that this was indeed ‘background pain’ and wasn’t worth stopping over. However almost immediately I heard someone else to my left declare to his running partner: ‘I think I might pull out soon – I don’t think my leg can take much more’. I chose not to take this as a sign and decided to ignore any further comments I might overhear. 

Nevertheless things were starting to get tough and although I was still hitting around 10 minutes per mile it was getting much harder to do so and I was really starting to worry I wouldn’t have enough energy to complete the course. After a while I realised we must be getting close to Tower Bridge and this was the first point in 12 miles that I allowed myself to slow to a walk in order to catch my breath so that I would be able to run across the bridge. A group of supporters to my left urged me not to stop; not to give up and when I started running again gave me a big cheer. It was quite special to run across Tower Bridge and see the great river stretching out to the East and West and to be part of a huge swarm of runners crossing the bridge amongst the deafening cheers of the spectators.

From Tower Bridge it was out into the East of London again and before long the half-way point where I took the picture of me looking weary and salty. My original and wildly optimistic plan of simply running two near-identical half-marathons was clearly not going to work. I needed a new plan and it was essentially just to take it one single mile at a time. All I needed to do was to make it to the next mile marker, reset and then repeat. Unfortunately the intense focus this was taking me at that point meant that I missed seeing two of our amazing CF Team from the Hospital, Cath and Paul, who I later learned were around mile 13 frantically calling my name and who I completely ignored. If you are reading this Cath and Paul I am very sorry for not seeing you but please be assured that your cries of encouragement were noted on some deep level and undoubtedly contributed to whatever successes I may have achieved that day.

Once I got into the unknown territory of running further than 14 miles, my pace began to slow. What had started off as a consistent 10 minute mile was now slipping from 11 to 12 minutes. We had arranged that Juliette and the boys would be waiting for me around mile 20. I was starting to worry that they’d be expecting me. I started texting Juliette the miles each time I passed them: 16, 17, 18. Looking at my phone now I can see that the time between texts goes from 12 minutes to 13 and then settles into a steady 15 minutes per mile. What happened during this part of the Marathon is a hazy blur of images and sensations. I remember the curious feeling of running through the two parts of the course where they hand out energy gels. Passing through water stations you become used to hopping over the mass of bottles being chucked across the road, but here at the gel stations the ground simply became a sticky carpet of sugary carbohydrate energy gel determined to glue your shoes to the spot and the sound of sticky trainers continued long after the road was clear. I remember masses of hands holding out jelly babies in bags and plates and tupperware boxes. Even more I remember my excitement when an occasional tupperware box would contain Starbust and on one occasion, jaffa cakes and fun size Mars bars

Looking back at some aerial photos taken at mile 16 I am confused to see me with my hands in the air until I remember that at some point someone was playing ‘YMCA’ on the stereo and all the runners automatically did the actions. (I say ‘all the runners’. In the photo it is only me. But I assure you everyone in front of me was doing it too. Unless I was hallucinating, which I may have been and was in fact running down a quiet street on the Isle of Dogs acting as one of the village people. I suppose I will never know.)

By the time I reached mile 18 the only way I could keep up my 15 minute per mile pace was by running for 5 minutes, walking for 5 and running for 5. At one point around here I thought I would give myself a short rest at one of the mile markers but even after just 30 seconds of stopping my muscles began to seize up and starting again was excruciating. So I knew I had to keep going even if it was slow. For a long time my world just existed in 5 minute chunks. Five run, five walk, five run. The five minutes of walking were no breeze though. I remember reassuring my mum and sister who were worried about me doing the marathon that if I needed to I would just walk, but even just walking is tough when you are sore, exhausted drained and the simple act of putting one foot in front of another was an act of extreme willpower.

As I got closer and closer to mile 20 I began to get excited at the prospect of seeing Juliette and the boys who were waiting with some other family members to cheer me on.

 Having experienced the disappointment of missing each other when I ran a half-marathon 2 years ago we had done a recce trip and agreed the exact spot they would stand. I wanted to be bright and running strong when I saw them so as soon as I recognised that we were nearly at the agreed spot I temporarily abandoned my run-walk-run strategy and was overjoyed to spot them straight away and grab a quick kiss from the boys (and Juliette of course). Strangely, after I passed them I started to feel like it really didn't matter how I did from this point onwards. I realised that what I had most been looking forward to and working towards had been seeing them and knowing that they had seen me running in the marathon. 

Of course that didn't mean I could just stop and go home! I was still determined to finish but somehow I felt less pressure and the boost that they had given me added a new confidence that I could finish. I was also now getting into more familiar territory again and passing the halfway point in the opposite direction. At about 22 and half miles you hit the Tower of London and I knew that it was not far now until the end. I was still going slowly but I was running rather than walking and it felt great to come out of the tunnel on Lower Thames Street onto Embankment and know that before long I would be at the end. Still I was worried about my knee and about whether I'd have the energy for a strong finish so I fast walked the whole of mile 24 and started running again as soon as I crossed the marker for mile 25, confident that I could keep going for the remaining 1.2 miles. As I began running, with Big Ben looming over me, the great clock ran the quarter chimes declaring it was a quarter to four. I had been focusing so much on breaking my run down into manageable chunks, resetting my stopwatch on almost every mile marker that until this point that I had no idea what my overall time was. With the help of Big Ben and a rough estimate of when I had crossed the start line I guessed I had been going for nearly five and a half hours. It was far slower than I had unrealistically hoped for but I was now just determined to keep running through to the end. As I entered birdcage walk, with Buckingham Palace in sight a large sign proclaimed '800 meters to go'. I was starting to struggle again but pushed on past the signs counting down: 600 meters, 460meters. Then it was around the corner into the sweeping curve of the Victoria Monument in front of the palace and there at the start of the mall, the finish line! I heard someone shout my name and there was an old friend Jo, excitedly jumping up and down. I slowed down long enough for her to take a pre-finish picture and then ran across the finish line, exhausted but exhilarated. A lovely lady smiled at me and said "and the winner is..." as she put the finishers medal around my neck.

It was hard, really much harder than I thought but worth it all for the experience and even more so because of all the sponsorship money we raised and which is still coming in (and if you want to donate you still can! )

At the time of writing this we have raised almost £1,500 which is wonderful and I really want to thank you all for the donations and support which really did help me to continue when it got tough. So for everyone who donated or wished me well, this medal is for you too - thank you!

Sunday, 22 March 2015

Get it off your chest.

Posted by Juliette

This blog post is a bit difficult to start because I don't have anything I need to get off my chest so to speak but seen as Sammy always has something to get 'off' his chest then that is entirely the point. 
I'm expecting a few new visitors to the blog so if that's you, thanks for visiting. We started this blog just after our youngest son Sammy was diagnosed with Cystic Fibrosis at 7 weeks old. It's our way of keeping family and friends up to date with how Sammy and the rest of us are and also as a record for us to look back at when we are all older. Cystic Fibrosis (CF) is a life-shortening genetic condition that slowly destroys the lungs and digestive system. CF causes thick sticky mucus to build up in Sammy's body especially the in his lungs. To reduce his risk of chronic infections and inflammation Sammy has a daily routine filled with physiotherapy and medications and he's encouraged to be very active.  So that's a bit about CF but not about Sammy, he is nearly 2 now and is a remarkable boy. He throws himself into things and doesn't seem to be afraid of anything. When we take Joseph to school Sammy loves to run around the playground, he has many friends. He is known by lots of the year 5 and 6 boys, nothing to do with his brother Joseph who is in year 1, the older boys know him as he regularly challenges them, he wants to play with a ball and he doesn't care that the older boys are twice his size. They are nice kids though as most of the time they humour him and let him kick the ball with them. This behaviour is Sammy through and through. He's a tough kid who just wants to join in and have fun. This attitude really helps him with his CF, his (almost constant and for me quite exhausting) activity helps to keeps his lungs clear and his fearlessness means he's not bothered by things like blood tests or chest Xrays. He's given himself a good start, so long long long may it continue.  My main reason for posting now, I'm sure you are well aware of. Mark is running the London Marathon at the end of April and I'm hoping you might give a little to help encourage him around the course. He is raising funds for the Cystic Fibrosis Trust as they are funding the most astounding research which will have a big impact on Sammy's life and life expectancy. It's hard to put this properly into words as it is of course very emotional for us but this award wining video does it perfectly. Please watch it and give what you can to Mark's fund raising.

'The Breath Before' video
Mark's fundraising page 

Thank you so much. 

Thursday, 5 February 2015

No News is Good News

Posted by Mark

Hi everyone,

Just a quick post to let you all know that there is nothing much to report on the CF front which, as always, is good news. Sammy does currently have a bit of a cold so he's on extra physio and antibiotics but it seems to be clearing up so we're not too worried. We took a cough swab when he first came down with it and should get the results tomorrow when we go in for our regular clinic visit at the hospital.

We are struggling a bit trying to change his physio routine. Up until now we have mainly been using 'patting' to clear the gunk in his lungs, but as he grows that becomes less effective so we have been trying to use a PEP mask which uses 'Positive Expiratory Pressure' to help do the job. The trouble is he doesn't really like it although Juliette has had some success bribing him with chocolate buttons!

Generally, blowing seems to be recommended as good physio, so here he is in clinic almost 6 months ago blowing bubbles:

And here about 5 months ago playing with dandelions:

Jumping is also good so we got a little trampoline for him and you can tell in this picture how much he enjoys it!

So generally things are going ok. Both boys are growing up fast and we recently got a bunk bed so Sammy will be moving out of our room and in with Joseph which I think they are both quite excited about. 

Juliette is becoming involved in sharing our experiences with the Cystic Fibrosis Trust who are redesigning the information they send to newly diagnosed families which is a very interesting project. I am busy trying to get fit for the London Marathon in April. I'll be setting up a JustGiving page very soon to raise what I can for the Cystic Fibrosis Trust.

I'll leave you with a couple of recent pictures showing just how big and grown-up Sammy is looking (especially with his new haircut!)

Thanks for reading and we'll let you know how clinic goes tomorrow. Fingers crossed for a good one!

Sunday, 10 August 2014

Life Facing Forward part 2

Written by Juliette

In part 1 of 'Life Facing Forward' I reflected on our last year. Now I want to tell you how we are looking into the future with hopeful anticipation. Sammy is doing extremely well in every respect and we are enjoying ourselves. We are careful to avoid harmful bacteria and germs when we can, we keep up Sammy's routine of medication and physio to keep him in the best possible health, and we are encouraging him to be active and sporty as this will really benefit him. 

I can picture Sammy into his teens and beyond but at the back of my mind is the knowledge that currently in the UK only half of people with CF live to see their 40th birthday. This is terrible but the Cystic Fibrosis (CF) Trust among others fund incredible research which can push that figure right up, in fact the Trust is working towards a goal that CF will no longer stand for Cystic Fibrosis but CURE FOUND!  

There are a few different research projects which will hopefully provide a cure for Sammy one day soon. We hope in the near future Sammy will be offered one of these treatments or even be given a choice of treatments. 

I was going to get all sciency here and tell you about a few of the drug trials currently happening but just reading about them I realise that's a big challenge for me but I will say this: CF is caused by a mutated gene. When the gene is normal it produces a protein which acts as a channel through which salt pass out of the cell. In the mutated gene it doesn't work properly. 

Currently all the medications and physio we use only treats the consequences of the faulty gene but the new medications being trialled at the moment actually work to help build the protein correctly! They either help to build the salt channel or help to open the 'gate' for the salt to pass out of the cell or do both. Amazing and exciting stuff! In addition to this there are gene therapy trials which look at ways of introducing normal CF[TR] genes into the body. 

The most exciting thing is that for a small number of people with a very rare CF[TR] gene mutation there is already a drug which they are using that corrects the problems of the faulty gene so it's hopefully only a matter of time before other things are on the market. 

We watch that space with hopeful hearts.

Life Facing Forward Part 1

Written by Juliette 

This week Sammy has moved into a second stage car seat and now faces forward. He loves it; he can take in the world as it goes by the front windscreen instead of being bored with the view of the back seat or the sky. Every day when I look behind me to reverse off the drive he smiles at me with big eyes. Yes, he's very happy with his new car seat.  

As Mark mentioned in his last post Sammy is over one year now so I have been a bit reflective about our experiences but now I'm ready to face forward just like Sammy.  Here are my musings and a recap of the year just gone.  

Samuel was born to doting brother Joseph, Mark and me. For the first few weeks he seemed like any newborn but just a few weeks later we knew something wasn't quite right. He was feeding constantly, only settled in my arms and didn't sleep! From 3-7pm I'd feed him without a break, 'cluster feeding' I was told. Once he was asleep in my arms we warmed his cot a little with a hot water bottle and then put him down. He would sleep in there for 30 minutes if we were lucky. Then the whole process of feeding to sleep would start again and last all night. Despite eating constantly day and night he was not putting on weight and by 6 weeks old he had fallen off the bottom of the centile chart. 

I took Sammy to the GP twice for what we thought was silent reflux and we tried two different medications. I was going to take him again the next day because I noticed that even after feeding his lips looked dry and on some occasions his fontanelle was a little sunken. These are signs of dehydration, so I was getting worried. 

A day later on a Monday morning I received a call from our health visitor explaining that a nurse from a large specialist hospital (not our local hospital) wanted to come and talk to me about the results of the newborn screening test and did I have someone with me? I knew it would be bad news because she had checked I had some support so I got Mark to come home from work immediately. If you want to read about how we received the diagnosis you can here. 
Diagnosis: Shocking news

So Sammy was diagnosed at 7 weeks old with Cystic Fibrosis, a genetic condition of the lungs and digestive system. Mark and I had no idea we each carried a faulty gene. Immediately after diagnosis the Cystic Fibrosis (CF) Team started him on a number of medications including meds for reflux, but the most dramatic one was Creon, a fat dissolving enzyme. The reason the effects were so impressive was because it compensated for one of the problems Sammy had been suffering from. Although his body makes this enzyme, the tubes it travels down from pancreas to stomach are all blocked with mucus caused by the CF. As a consequence, Sammy doesn't digest any fat in his food or get any of the fat soluble vitamins either. For the 7 weeks prior to diagnosis Sammy was starving. Nothing he ate satisfied his hunger. This is the reason he wasn't putting on weight, fed constantly, didn't sleep and wouldn't settle. Did I mention he wanted to be held a LOT or that he screamed for every car journey even if he'd just been fed minutes before? The Creon enzyme is given for every food which contains fat and has to be calculated so that he receives the correct amount for the quantity of fat in each meal. He is currently having about 15-20 doses of Creon a day. Initially Sammy's milk intake didn't decrease but we could tell he was satisfied from the food as he was settled after each feed. He played catch up for a long time whilst he put on some weight and then the number of feeds eventually became more manageable. 

I want to say here that we are so extremely grateful for the work of the Cystic Fibrosis Trust who campaigned to get CF included in the newborn screening programme for every baby in the UK. Without the simple heel prick test we wouldn't have received a diagnosis for possibly months until someone had figured it out. Sammy would have continued to lose weight, not sleep and could well have had damaging chest infections. He would have been in a terrible state if he had been diagnosed late. With an early diagnosis it has given Sammy the best possible start. I also want to share something I read after a BBC drama 'Call the Midwife' featured CF in the storyline. In the 1950s and 60s before a lot was known about CF, children with the condition usually died in infancy or early childhood. This would have mainly been because of the child's failure to thrive and any infections would have been difficult for a malnourished child to fight off. What I read was that some mothers were either nearly or actually sectioned as their health professionals believed they were not feeding their babies. I can totally identify with this, feeding a baby constantly is exhausting. Then add complete sleep deprivation to the mix and you can imagine why mothers may have become or just appeared depressed. Then you have a health professional who sees a starving, underweight baby and a mother who says she feeds all the time but that doesn't add up. I can see how it happened and I'm so grateful for the newborn screening and the amazing advances in treatment.  

Following diagnosis we had 9 really tough months but for various reasons but after those months things started to settle down a lot and we are now ready to face forward. 

Part 2 to follow.