Sammy at CF Clinic

Posted by Juliette

This is a very quick update because all I really wanted to do was add some photos.  We went to CF clinic last Friday.  We saw Sammy's team of professionals: a CF consultant, a CF nurse, a physiotherapist and a dietitian.  Everyone is very happy with him as he is doing great.  No-one is more happy than Mark and me as Sammy is meeting every milestone with enthusiasm and a cheeky grin, he's a joy.  These pictures were taking while we were waiting for Sammy's team to come and see him.  He is sitting in the consultants chair and playing with Daddy.

Wheeeeeeeeeee!

  

PA role: PA to upwardly mobile young man, includes other responsibilities

Posted by Juliette

In one of my old posts I mentioned the many new roles we have had to take on as parents now we have a child with Cystic Fibrosis. I thought I'd elaborate here. I would just like to add before I start that neither of us begrudge doing any of this. The way we see it, if we can do anything to make sure Sammy is as healthy as possible, we do it. As a result of this Sammy is indeed a healthy boy, in fact in some ways he's in better shape than us as he gets good food, daily vitamins, antibiotics and physio to prevent lung infections and as much sleep as he wants. We on the other hand don't eat so well, forget to take any vitamins and are sleep deprived because it turns out that Sammy doesn't want as much sleep as we'd like him to have, nor does he choose to take it in the middle of the night! 

So let's see what extra things we do in addition to being a parent. 

Physiotherapist: From the very beginning Mark and I were taught how to give physiotherapy. On a normal day we give 5 minutes twice a day. If Sammy is ill we do more physio each day. I think the amount of physio will increase when he's bigger as his lungs will be bigger. 

My P.A. role: We go to clinic every 3 weeks so I make sure there is either someone to take or collect Joseph from school or request an appointment where I can do the school runs and go to the clinic. Mark often takes Leave from work and comes too, but if not, I might organise that someone comes with me. 
 
As Sammy is on several medications, I make sure we always have stock of these, order more from the GP, collect prescriptions, take them to the pharmacy and collect the medicines. Sometimes I warn the pharmacist about a prescription so that they can order it in for him. I used to be all over the place with this and would be at the GPs every other week or more requesting something I hadn't realised was going to run out. Now I've sorted it so there is a monthly prescription. 
 
Sometimes there are questions for the CF team in between clinic dates. I email them and we often have to change medication, doses or physio. 

Nurse: I nearly forgot this one, it's become so normal that I forgot it's not a normal parent role. We prepare and give at least 19 doses of medicine a day. Most are given by oral syringe but the ones that are granules are given on a spoon with apple puree. 

 
Pharmacist: Once a week we take a bottle of powdered antibiotic and reconstitute it with the precise amount of cooled boiled water. 

Dietician: This is a new addition to our roles as we have started weaning Sammy. We have to work out the dose of an enzyme called creon for every meal Sammy eats. There is more about this in my last post. On the move

Well 5 extra roles! Of course I'm not saying we do any of these things anything like the professionals, just that we have taken on a little bit of all of these roles. As a result though Sammy is really thriving and does everything full pace. 

A special thank you has to go to our wonderful team of real CF professionals and our pharmacists for teaching us how to do a little bit of what they do. 

On the move

Posted by Juliette

It looks like Mark and I have fallen down that common bloggers' pitfall of not blogging when things in life are good. Well to rectify that, here is an update on how we are all getting on. 

Mark is very busy at work and busy helping and joining in with us when he is home; Joseph is loving school and we are loving that he's learning to read; I'm busy at home but finding my feet more and more in our CF and day to day routine - the CF specialist nurse even told me I was 'very organised'! I nearly fell off my seat and wished all my ex bosses had heard that one; and Sammy, well Sammy must be the busiest of us all. He's growing very well and is continuing to put on good weight and length which will help him fight infections in the future and is keeping him firmly on the centile chart. He is currently infection free having fought off a horrid cough last month. When Sammy gets ill (under the direction of our CF team) we immediately change his antibiotic from his regular Flucloxacillin to a rescue course of Co-Amoxiclav and increase his physio to 3 or 4 times a day and for double the duration. This time we did this for 3 weeks and it cleared up the cough beautifully and prevented the virus from developing into a bacterial infection in Sammy's lungs. Preventing bacterial infections is what it's all about! The BIG NEWS is that Sammy at 7 months is crawling, pulling himself up, cruising round the sofas on his feet and if you hold his hands he walks everywhere. HE'S MOBILE and he is also learning the word NO! He frequently crawls towards the radiators, wires, toilet or other hazards we'd rather he stayed clear of. He initially turned and laughed at Mark the first few times he shouted NO because he had never heard the tone Mark was using. We think/hope he's getting it now though. 

Amusingly Sammy managed to lock Mark in the shower one day whilst Joseph and I were out. While Mark was in the shower cubicle Sammy crawled over to take a look and put his little hands on the bottom of the shower door in such a way that Mark couldn't open it without crushing his fingers. Mark started shouting 'NO!', 'SAMMY, GO TO OVER THERE!' and anything he could think of to persuade him to move but Mark probably became more interesting and intriguing to Sammy at this point. Eventually Mark realised he had to wait for little Sammy to get bored and move away on his own. He finally did, at least the shower water remained hot the whole time. 

The other great new thing in Sammy's life is food. As with Joseph we are doing baby-led weaning. Sammy has taken to it well and likes a big variety of food, especially baked beans and Greek yoghurt (though not together - but maybe we'll give it a try). He is also very good at spooning food into his mouth. I, on the other hand, am perhaps not doing quite as well. You may remember from other posts that Sammy needs to take an enzyme called creon every time he eats something with fat in it. This means I have to work out how much creon to give for a food depending on it's fat content. For example 50ml of whole milk and 1/2 a Weetabix contains about 2g of fat so I give 3/4 of a scoop of creon granules. (2.5-3g fat = 1 scoop) Sound complicated? Try working out the fat content for tuna mayonnaise (tuna = 6.8g for half a tin, mayo = 10.2g for 15ml) now work out how much fat is in the 6 spoons Sammy actually ate and then work out the creon dose for that!! Don't worry you don't have to do this, Phew! And I'm getting the hang of it :-)
 
So to round up, we are all fine, busy but having lots of fun oh and there is food all over Sammy, me and the floor at all meal times but thank goodness for wipes and washing machines. 

Camp it up. The louder the better!

Posted by Juliette

So I thought I would blog about the fun we all have when we give Sammy his physiotherapy. It might sound a bit odd to you that it is fun as perhaps you will see it as one of a number of chores we have to do to help Sammy stay one step ahead of his CF but if we saw it like that then for one, we would be miserable and two, Sammy could grow to see it like that.

 Therefore as Sammy will/may need physio for the rest of his life we choose to make it fun and in this post I want to explain why and how we give Sammy his physio and then how we camp it up!*

WHY?
Everybody has mucus in their lungs, it's there to help protect the airways. The problem CF causes is that the mucus is much thicker and it therefore doesn't move around in the same way making it difficult to shift and cough up. An added danger is that it is a warm, moist, sticky environment, so bacteria love it, therefore any one with CF has an increased risk of developing chest infections.

So what? you may think. Everyone gets chest infections and they just get on with it, don’t they? But this this the depressing thing; with CF, each chest infection has the potential to kill off some lung tissue. Once dead this tissue will never recover resulting in reduced lung capacity and function. Every infection has the potential to cause this irreversible damage and low lung capacity and function will either effect quality of life or will reach a state where the amount of functioning lung is not even compatible with life itself. Yes you know what I'm saying. I don't want to actually put it into hard text because I don't want to read it back. 

So I guess if you didn't already understand why I'm obsessive about trying to keep Sammy free from colds and infections, you do now.

Right, sorry if I brought you right down; let me pick you back up again. We do two main things to help Sammy clear the thick mucus from his lungs and stay free from infections. We give him an antibiotic every day to help prevent bacteria from growing in his lungs and we give him physiotherapy. The physio is normally given twice a day for five minute at a time. We increase the amount we give if he has any sign of an infection. Currently he has a cold (Panic! Panic!... No he's doing fine) so we do two lots of 10 minutes until the infection has gone. We can do physio up to four times a day if necessary. The physio helps to move and clear the mucus and when he has a cold there is more mucus to clear, hence more physio. 

HOW?
There are a number of different ways to do physiotherapy for someone with CF but currently we do percussion, also known as patting. Traditionally this is done using cupped hands but on a baby this is quite tricky so we use a small rubber cup (which is actually a paediatric oxygen mask) to pat Sammy firmly on his chest and back. We have discovered that Sammy loves it if we do it to music and it is the choice of music which makes it so much fun. Mark has made a playlist of largely fast tempo, upbeat tracks on his phone and we sing along and jump about whilst patting. I only hope Mark's terrible song choices don't rub off on Sammy as he develops a musical taste of his own. 

 Mark’s favourite songs for patting include:

Waterloo - Abba
Laura - Scissor Sisters
9 to 5 - Dolly Parton
Brown Girl in the Ring/By the Rivers of Babylon - Boney M
Rocket Man - Elton John. 

My new guilty favourites chosen from Mark's camper than camp playlist: 

Call Me Maybe - Carly Rae Jepsen,
Price Tag - Jessie J
The Clapping Song - Shirley Ellis. 

Have any of these song choices put a smile on your face? If so you can see why Sammy loves it, and his face really does light up when the music comes on. So which one is your ear worm for today? 

*You may notice that I couldn’t decide between writing that Sammy will need physio for the rest of his life, or that he may need it. As things stand right now he will. But we are hopeful that with enough money and research, scientists will be able to find a cure, or at least effective treatment that will allow a full and rich life expectancy and remove the need for physiotherapy. Such a treatment is already available for those people with the rare G551D mutation, so something to help people like Sammy is not out of reach. In case you haven’t spotted it, this is just my cheeky little plug to ask you to sponsor Mark who is running half a marathon for the Cystic Fibrosis Trust as they fund the research. – As always, our sincere thanks to those who have already donated.
http://uk.virginmoneygiving.com/markleecarter

U'ntaneh Tokef

Posted by Mark

To our non-Jewish readers, the title of this post probably reads like a random hitting of the keyboard. Jewish readers however, may well recognise the name of one of the most poignant and powerful parts of the Rosh Hashana (New Year) and Yom Kippur (The Day of Atonement) synagogue service. It is a beautiful piyyut (Liturgical poem) and has always managed to move me but I think even more so this year following Samuel's diagnosis. In particular, the central part which can be translated as follows:

On Rosh Hashana it is written and on Yom Kippur it is sealed: How many shall pass away and how many shall be born; who shall live and who shall die - who at the full length of his days and who before; who by fire and who by the sword. Who by wild beast and who by hunger ... who will enjoy tranquillity and who will suffer; who will become poor and who will become rich; who will fall and who will rise.

It is pretty powerful stuff (much more so in the original Hebrew) and whether or not you believe that such things are somehow 'written' and whether or not you believe the piyyut's hopeful exhortation that in spite of this predestination:

Repentance, Prayer and Charity avert the severe decree

It is nonetheless a deeply moving reminder that so much of the future is beyond our control. I always look around me at this point in the service, trying to really grasp and acknowledge that although we are here today, there is no way of knowing who will be missing when the words are repeated in services next year. Those who appear ill and frail may well be amongst us while those who seem the strongest and seem to have years ahead of them may no longer be here. Each year there are a few new faces from new people who have joined the synagogue, but there are also faces that should be there but just aren't any more.

This year I was also particularly aware of the parents sitting with their children who, when Juliette and I first joined the synagogue, were little kids and now are grown up. I thought of Joseph and Sammy and how much I hope that in many years to come they will sit with us, grown taller and stronger than us, and wonder how it was that they grew up so quickly.

But at the same time I know that this picture may not come true. Juliette and I both spoke about how hard it will be if one day we will have to go to Rosh Hashanna or Yom Kippur services and Samuel is no longer with us. But I suppose one of the points of the U'ntaneh Tokef piyyut is to remind us that we just do not know what tomorrow holds for any of us and we should be mindful of this fact. Yes it is true that Samuel has a life-shortening condition but there are some people with CF who have lived well into old age, and who is to say he won't be one of those? And who knows what advances will be made in research and treatment next year and the year after that and the year after that? And even without CF, how do we know who will die at the full length of his days and who before?

Here is hoping that we will all be inscribed in the book of life, blessing and peace for the coming year.

P.S. We have decided that Samuel should become a 'Baal Tokea'. One of the highlights of this time of year is the blowing of the shofar  (Ram's horn) during services. It needs a lot of puff to blow it well and a good Baal Tokea (person who blows the shofar) needs to develop good lung capacity to do it well so practising the shofar should be good for Sammy's lungs - although what bacteria could be lurking in a ram's horn probably doesn't bear thinking about!



UPDATE:
I just saw this awesome video on popchassid.com of a baal tokea blowing a shofar in all sorts of crazy places across Israel! Enjoy, and a Happy New Year!

All about the boy.

Posted by Juliette

I know I haven't posted anything about how Sammy is doing recently, so here is a proper update all about him. He is doing really well. We went to clinic on Friday and he continues to thrive and is now firmly back in the centile charts for both weight and height. I feel I can say height not length, as you normally would for a baby, as he spends so much time on his feet. I've even marked him on the wall where we measure Joseph!

Sammy is 4 1/2 months old now. This week he weighs 5.7kg / 12lbs 5oz and he measures 60cm. He is looking lovely and healthy and is pure happiness, smiling all the time.

In other news, Sammy is teething and seems desperate to start weaning, he watches us when we eat and grabs a plate or anything in arms reach. Sammy is babbling and blowing raspberries and his character is similar to Joseph's in as much as he is very interested in everything and is taking it all in. As I mentioned before he loves to stand and has started bouncing in our arms. He has learnt how to roll over and when on his tummy he sometimes tries to bring his legs up under his body so looks like he is attempting to crawl. He has pushed himself backwards off his mat before so basically it won't be long before he is on the move. Watch out Joseph, Sammy is coming! This is great for a child with CF as we want him to be an active and sporty child. Perhaps soon he can join his Daddy for a run ;-)

Talking of which, Mark's training is going well and he is clocking up the miles. He is also changing! Mark and I have been together for 16 years and until a couple of weeks ago I had never seen him wear a pair of shorts except for swimming. We have visited hot countries and Mark has done various sports but always in trousers. Now however, he wears shorts every single time he goes out running! He might blog soon about his running but if you haven't already read about why he has chosen to run a half marathon you can here and if you are able to make a donation too we would be very grateful.

THANK YOU SO MUCH TO ALL THE WONDERFUL PEOPLE WHO HAVE ALREADY DONATED, WE LOVE YOU!

What IS routine?

Posted by Juliette

So are we in a routine now? Well firstly I can't remember what we used to do with Joseph particularly well, secondly what is 'normal' for a 4 month old? And lastly, I just had to change a yucky nappy at 4am and Sammy was very chatty about it all. Sammy also had a little vomit over his sleeping bag so Daddy was not able to sleep through this little middle of the night escapade as I needed some help cleaning everything up. None of this is very routine.

Tonight Mark told me that it is a 'CF thing' to be quite nocturnal and a light sleeper. It seems like our little boy was indeed sleeping lightly when Mark shared this new delightful news with me and he decided to show me how right Daddy was. Boo!

I've now managed to get him back to sleep with a feed so hopefully that's our excitement over for the night. Boo again, by the time he's sleeping soundly enough for me to put him in his cot without waking him (cos he's a light sleeper) it will be 5.30am and almost time to get up (I guess Mark could be right).

Having said all of the above, we are in a reasonable routine. Sammy has stopped feeding 24 hours of the day as his weight has caught up a bit. He has reasonable times for feeds, we have a pattern for his physio and medication plus if you've been out with us recently you'll know I now am comfortable, even organised about carrying some creon (an enzyme) and apple purée with us so he can have a milk feed whenever he wants to. (Creon is taken before every meal to help Sammy absorb the fat from his milk, without it he wouldn't grow.)

The subject of what we take with us when we go out is what I wanted to blog about. Unfortunately life with Sammy is not very spontaneous. Whenever we leave the house, even if its just for school pick up I prepare a bag of sterile spoons, creon and apple puree so that if Sammy needs a feed I can give one.

Recently we were very lucky and had the pleasure of staying out of London with friends. Packing was a nightmare, it took hours and we had to be precise to make sure nothing was forgotten. When we were finally in the car ready to leave Mark and I said to each other 'Never again'. 

We have only stayed away from home with Sammy once before and on that occasion I forgot the steriliser. I was ever grateful to Mark's parents who have every bit of baby paraphernalia you should ever need, owing to their clan of 22 grandchildren! I borrowed a steriliser and all the things we had inside ours. Mark's parents live 10 minutes away from my parents where we were staying so we were lucky. When packing for this recent trip we had to make sure we had all Sammy's CF treatments. This equates to 4 bags of STUFF and includes medicines, specialised milk, physio equipment, a steriliser (never forgotten again!) syringes to give the medicine plus the equipment to make up Sammy's weekly bottle of antibiotics (given to us as dry powder which we reconstitute at home.) (Our role of parents has extended to include carer, nurse, physiotherapist, PA and now pharmacist - perhaps this is the subject for another blog post.) With our 4  bags of stuff and the other baby things like a cot... oh and some clothes for the rest of us, we headed out of the city. We got stuck in some traffic and behind the obligatory tractor later in the journey but once we arrived at our destination we had an amazing time.

Despite firmly believing we would never leave the house again after packing for this trip, we will of course do it again because being away is so much fun once you get to your destination. 

Outrunning CF

Posted by Mark
Samuel came back from clinic on Monday weighing a nice healthy 10lbs 12oz and we are delighted to see that this puts him firmly on the centiles chart!


Tracking Sammy's weight is an important part of his treatment because if he is putting on weight it means that the medication is working and is enabling his body to extract and process all the goodness from his feeds. It is also important because it means he will be able to build up the strength to hopefully stay ahead of the symptoms of Cystic Fibrosis for longer and if he should get ill, to recover more quickly with minimal damage to his lungs.

I have come to realize that this feature of his care, the building up of his strength, the constant monitoring of everything, the prophylactic courses of antibiotics, is all about staying one step ahead of CF. It is quite simply a race against the effects of the condition. If we stopped all treatment he would likely be dead before his first birthday as was the tragic fate of children born with Cystic Fibrosis until fairly recently. Since the late 1930s however, when CF was first recognised, life expectancy has crept up little by little. Today the median life expectancy for someone with CF in the UK is 41, meaning half of the people with CF are living longer than that, but of course also sadly meaning that the other half are dying before they reach their forties. This means that we are getting better and better at staying one step ahead of the effects of CF but they are always hard on our heels. It is a constant battle and I know already the impact this has on one's nerves; wondering how long it will be before an infection, how long will it last, how much damage will it do and how much useable lung will my son be left with? Such thoughts are never far away and the horizon of each new day is anxiously scanned for any signs of infection.

It takes a great deal of effort and energy to stay ahead of the effects of CF. I was recently reading the blog of one man with CF who has never been admitted to hospital for treatment of an infection. This is an amazing achievement as such admissions are a fairly routine part of the treatment of CF. But he runs up to 100 miles a week to fight off those infections, and to make sure his lungs are as strong as they can be. 100 miles. Every week. Just to stay alive.
If you want to read his blog, it is http://www.ihavecf.blogspot.co.uk/

We need a better way to beat the symptoms and the underlying genetic causes of CF otherwise no matter how fast we run it will still catch up with us in the end and when it does, it will always be too soon.

And that is why I too am running. On October 6th I will be taking part in the Royal Parks Half Marathon to raise money for the Cystic Fibrosis Trust. As well as providing help and support for those with CF and their families, the CF Trust helps fund research into treatments that will one day help us to reach the goal that one hears a lot in the world of CF: the day when those two letters stand not for Cystic Fibrosis but for Cure Found.  Please click on the link below to sponsor me as much as you can and help to bring that day a little closer.
www.virginmoneygiving.com/markleecarter

If you believe it can be broken, then know it can also be fixed - Rabbi Nachman of Breslov

Posted by Mark

Following on from Juliette’s post about lung transplants in CF patients, I wanted to talk a little bit about what is actually happening in Sammy’s lungs and other parts of his body that means one day we might have to face the difficult process of looking for a new pair of lungs.

DISCLAIMER! All the science in this post is based on my own understanding of genetics and cell biology that I have learnt since Sammy was diagnosed with CF. I think I've got it right but don't rely on anything here to help you pass your biology GCSEs. 


The various processes and functions that take place inside cells are incredibly complex and yet beautifully co-operative and efficient. I have had to simplify some of the processes somewhat to just bring out the salient points relating to CF. If I have misunderstood or omitted anything, please accept my apologies and let me know.

Anyone looking for a comprehensive yet accessible introduction to cell biology should read 'How We Live and Why We Die - The Secret Lives of Cells' by Lewis Wolpert.

http://www.amazon.co.uk/How-We-Live-Why-Die/dp/0571239129  

So onto the biology: The cells that make up the lining of the airways of your lungs are of a type called epithelial cells, and they look a bit like my very amateur animation below (which you may not be able to see if you are reading this on your mobile). On top of these cells there is a mucus layer that traps bacteria. As you move down through this layer, it becomes more watery. Swaying back and forth in this layer are little hair-like structures called cilia that stick out of the cells, washing away all the bacteria and keeping the airways nice and clear.

At least that is what is supposed to happen.

In people with CF, the watery section that sits on top of the cells is too low and thus the cilia aren’t able to wave back and forth because they are just lying down. Without the watery section the mucus becomes thicker and stickier and is the perfect breeding ground for bacteria. Lungs become prone to infection and each infection causes irreparable damage to the lung tissue. Sadly, eventually there just isn’t enough healthy lung to breathe.

The watery section that should be flowing along the airways is maintained by an intricate process of osmosis. Tiny channels or gates are created in the cell membrane that allow chloride ions to leave the body of the cell, making their way into the water stream above. The movement of these chloride ions, along with the absorption of sodium ions causes an in imbalance between the ionic charge on either side of the cell membrane. In order to redress the balance, water is drawn out of the cell, causing a nice constant stream of water for the cilia to work in.

But someone with CF has problems making those little channels or gates that allow the chloride ions to leave the cell. And if there aren’t enough chloride ions leaving the cell, an ionic imbalance can’t be created between the two sides of the cellmembrane and thus no significant movement of water from the cell to the river above. And as we have seen, without enough water, the cilia can’t move and keep the airways nice and clear.

The little channel that allows the chloride ions to leave the cell is called CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) and this is where the problem is in people with Cystic Fibrosis. CFTR is made by a little protein machine in the cell that reads the section of DNA code in the nucleus that tells the machine how to make CFTR. When this machine reads the code, it creates a little strand of protein that folds up on itself to form the CFTR. The trouble is that in Samuel’s DNA there is a mistake – or rather two mistakes – in this part of the DNA that means the CFTR won’t be made properly. One mistake came from me which means half of his CFTR proteins lack a particular element and never make it to the cell membrane, and the other mistake came from Juliette which means that the machine that makes the CFTR is told to stop making the channel too soon.  

So what can be done?

We give Sammy physiotherapy everyday to help try and shift some of that sticky mucus out of his airways. We also give him antibiotics to try to kill any bacteria that might be lurking in the mucus and we have to give him lots of enzymes because as well as his lungs suffering from this thick mucus layer, the tubes from his pancreas are also the same. This means that while his pancreas is trying to send enzymes into his gut to absorb certain nutrients from food, the tubes are too blocked to let the enzymes out. So we have to put enzymes into his gut by giving him scoops of Creon every time he eats.

Can it be fixed?

Yes. It can - but at the moment only in theory. More work is needed to make it happen in practice though. The answer, I am sure, will lie in gene therapy and this is where more research and money is needed because gene therapy is the only thing that truly gets to the underlying cause and actually allows cells to create fully functioning CFTR.

What is Gene Therapy

This incredible science hinges on replacing the faulty section of DNA code with a correct piece of DNA, so that Samuel’s cells will be able to make correctly shaped and functioning CFTR channels. The correct genes are packaged in a virus and sent to the area where they are needed. Initially it was hoped that CF would be fairly easy to treat with gene therapy but it is proving difficult to get the new, corrected gene into the cells because lungs are quite well designed to resist invasion. Still, clinical trials are continuing and we hope that there will be good news on this front soon. Gene therapy is a fascinating topic and I may well post about it again soon.

Gene Therapy is the ultimate goal, but another alternative is using drugs that might help the CFTR to work. Trials are underway for combinations of drugs that will still enable those CFTR channels to allow the chloride ions out, even if they are a bit misshapen or unstable. While not entirely correcting the underlying issue in the way that gene therapy would, such an approach would still allow the cells to do what they are supposed to. Indeed, there is a new drug called Kalydco that does just that. Unfortunately for Sammy, this particular drug only helps people who have a particular mutation in their code, G551D. Trials are underway however to see whether this drug, used in combination with others, might help those with other mutations. 

Between two lungs

Posted by Juliette 

For a while now I have wanted to write a post about organ donation because quite simply it saves the lives of many people with Cystic Fibrosis (CF). I hope this post is more about what you think then what I think. 

I always thought it was a good idea to be on the organ donor register but never did it, Mark was the same. After Sammy's diagnosis Mark started reading about people with CF who have had lung transplants, lung and heart transplants and pancreas transplants. A few days later he joined the organ donor register and told me so. At this point the decision to join the register was so crystal clear for me. When I die, someone else might have a new lease of life from my lungs, someone like my own son and in many many years to come if Sammy should need a transplant I would hope there would be enough people on the register to provide a new breath of life to him too. 

It's very simple to join the register, in fact quicker then filling out any other form on the internet. If you have always meant to do it please just register now, if you have never considered it, please do. The organ donor register website answers questions you may have and also has information about how organ donation is viewed by different religions. It has lots of reasons for being on the register which I will leave you to read in your own time, I will just share this one sentence as it resonated with me. "One donor can save the life of several people, restore the sight of two others and improve the quality of life of many more." 
https://www.organdonation.nhs.uk

When I completed the form I stopped for a moment to consider whether I wanted my eyes used and then thought what will I need them for? They will just be buried along with some other bits of body, they are no use to me or anyone if buried in the dirt. Life is for living, embracing wonders, love and shared experiences. I see that now with more clarity then ever before in my life. 


'And my running feet could fly, each breath screaming: 'We are all too young to die!'

(Lyrics from 'Between two lungs' by Florence and the Machine. This song has been playing in my head regularly since diagnosis and the lyrics have taken on a completely new meaning to me.)  

If you think you can, please sign the register, don't leave it for someone else to do. According to the CF trust 1 in 3 people with CF who are waiting for a lung transplant die waiting as there are not enough people on the register. These are people in their twenties and thirties, people who should have their who life ahead of them. They are someone's son or daughter so please help them.

PS by Mark

I just wanted to add a few words of my own to Juliette’s post and to also urge everyone to add their name to the donor register, but also importantly to let your family know your wishes. The already small numbers of donations is considerably reduced by familes refusing organ donation even though the deceased has joined the register. So it is important that you let your family know so that they will be better prepared to respect your wishes. This poster from the Organ Donation makes for interesting yet depressing reading:




Join the NHS Organ Donation Register













In Judaism we are told that the reason G-d created the human race from one single person was to teach us about the incredible potential of a single life. The Talmud says "Whoever destroys a soul, it is considered as if he destroyed an entire world. And whoever saves a life, it is considered as if he saved an entire world."



It is in your power to save the world, so be a superhero and please sign up today.



And for anyone who wants to hear 'Between two lungs' here it is: 

A Month in

Posted by Juliette 

Sammy was diagnosed with Cystic Fibrosis (CF) roughly one month ago so I thought I'd post an update on how we are all doing.

Since the first home visit we have been to CF clinic 7 times and had a couple of home visits from the nurses too. The reason for the frequent appointments is not because they can't get enough of cute little Sammy, (though a couple of minutes cooing with smiley Sammy is definitely part of every consultation) but so that his weight can be checked, his medication checked and tweaked if necessary and so that we can be taught more about an aspect of care or the condition. At the last couple of clinics we have also been checking for any signs of an infection following a little cough he had which has now cleared up by using a course of rescue antibiotics. 

The people we see each time at clinic are: a CF consultant, a specialist nurse, a physiotherapist and a dietitian. Doses of medications and top up feeds have been changed on almost every clinic visit as making these adjustments fine tunes the regime to suit Sammy. These alterations certainly keep Mark and I on our toes but the difference they make to Sammy is remarkable.  

One of the drugs Sammy takes is an enzyme which helps him to absorb fat, protein and nutrients. Sammy doesn't get the enzymes his body makes because the tubes they should be travelling down from pancreas to stomach are all furred up with thick mucus meaning that food just goes straight through him without its goodness being absorbed. This is why he was so slow putting on weight in the early weeks of his life. Despite feeding nearly 24 hours a day he just couldn't get all he needed from the milk, including that nice full feeling that you get from absorbing all the rich fats and goodness in food. Added to this was the problem that even though his stomach was full of milk, he still asked for more and often vomited as there was no more space in his belly. 

The enzyme that we give him is called Creon and tiny scoops of little granules are given on the back of a spoon with some apple puree each time he eats. This has made an enormous difference to Sammy.  The tiny scoop of Creon (in fact half a scoop initially) has meant he digests what he needs from his feeds, making him feel satisfied and allowing him to put on weight. Before diagnosis he was some way beneath the lowest centile line for
what a baby normally weighs but is now just nudging the line for the lightest
babies so we hope before long he will be back on the chart. In our most resent
clinic visit the dietician advised we give a fourth formula feed each day and
increase the Creon dose with the formula. This should really help to boost his
weight.

 

The use of Creon has made such a difference and now that he feels satisfied from the food he can be himself, he is the most smiley baby I know.  Just recently we had a new milestone; he had a formula feed and fell into such a content sleep that I was able to put him down in the Moses basket where he slept whilst Joseph and I ate lunch and played.  This may not sound like much to you but to us it was a major event.  Before this point Sammy's daytime sleeping had been so shallow that at best he dozed in my arms for a short while which made it difficult for Joseph and I to play together.

 

Other updates: We are leaning a variety of physio techniques so we can mix things up a bit. 

The boys and I are staying with my parents while we have a porch rebuilt. 
Who knew that there is sometimes spores in brick dust? We want to keep Sammy away from this risk to his health and we get to have a change of scenery and a bit of a 'holiday' at the same time. 

All in all Sammy is putting on weight and we are in control of other symptoms of CF, Mark and I are doing well at keeping on top of the ever changing routine and Joseph is having a whale of a time staying at Granny & Grandpa's house. 

Hands off he's mine

Posted by Juliette
So far I have found it relatively easy to write posts as they just recount our experiences. This one however, poses more of a challenge as I'm looking for an answer.

I'm sure many mums will know what I mean when I say that your personal space changes when you are either pregnant or have a new baby. I think it changed in two ways when I was pregnant: Firstly I wanted more personal space, particularly on the tube where there is always an intrusion and I was wary of being pushed. Other people however, thought I needed less personal space and people who I wouldn't usually kiss hello with suddenly felt the need to rub or touch my bump. I never minded when people asked but people didn't always ask! Secondly, complete strangers wanted to know how the pregnancy was going. I know that people were just being friendly but sometime the Londoner in me struggles with talking to strangers and I crave my anonymity; the last thing I want to do is discuss such a personal issue with them.

Once you've had the baby this invasion continues: shoppers in supermarkets stick their hands and head into the buggy to take a look at the wee cutie and others stroke the baby's head or grab a hand to squeeze. People that you know only vaguely who fancy a cuddle just expect you to hand the baby over.

It's plain to see that all this irritated me when Joseph, my first child, was a baby but it has become an anxiety rather than an irritation now that Sammy has been diagnosed with CF. One of our jobs as Sammy's parents is to protect him from infection where possible yet still lead a 'normal' life. Each infection he does get has the potential to reduce his lung function which has very serious consequences for him, and he may also need to be admitted to hospital for treatment if it can't be managed by drugs at home. This will of course be stressful and very disruptive to the whole family so infections are best avoided where possible.

Sammy will be going to nursery when he is old enough where he will be exposed to lots of infections. By the time this happens I hope his weight will be normal for his age and also that he is fit, perhaps even sporty and will have developed some immunity. At this stage however, he has none of this to protect him so I have my dilemma. Do I let people coo and stroke my beautiful child who, incidentally, and to make the challenge harder, smiles back at them; or do I tell them DON'T TOUCH and hand them antibacterial hand rub to make my point? How am I to know who has clean and who has dirty hands, who has a virus and who suffers from hay fever?

The truth is I still don't have the answer though I'd hoped writing this would have provided one. I'm struggling to find the balance between being polite and being hysterical. Perhaps experience is the only way I can find out what to do. Just cut me a bit of slack if you notice I pull away when I see you coming up for a tickle or to tell me how cute Sammy is.

Big Brother

Posted by Mark
Lots of people have asked how Joseph, our 4 year old has been since Samuel was diagnosed with Cystic Fibrosis so I wanted to talk about that in this post.

From the moment that Joseph knew he was going to be a big brother he was very excited about having a new member of the family and about the possibility that he might get to share a room and sleep in a bunk bed. I remember vividly how eagerly he rushed forward to see Sammy when we brought him home from the hospital and how he then hurried off to get the toy giraffe he had bought to give to his new little brother.
It came as no suprise that Joseph was willing to help from the start whenever we asked him to do something to help us look after Sammy; not only is he generally a very helpful boy, but he is also clearly deeply attached to his little brother and wants to look after him and care for him as much as he can.

We wanted Joseph to know about Sammy's CF and so we explained that while he was growing in mummy's tummy, his lungs and tummy grew a little bit differently so that he has to have a lot of medicine and we have to try to make sure he doesn't get too many coughs and colds. We showed him the Creon and how we have to put it on the back of a spoon and explained that Sammy would need to take this medicine forever every time he eats. Joseph looked sympathetically at Samuel and said: "I think he will find that very boring".

Beyond that, hasn't really made any comments about it, although whilst listening to him chatting with one of his friends I overheard him say: "Did you know Sammy's tummy doesn't work properly?" so he is obviously quite aware of it. Also when Juliette was talking to some of the nursery staff one of them told her that during morning assembly when prayers are said for the sick, Joseph offered Samuel's name for inclusion. The fact that this was entirely unprompted and he didn't even tell us about it afterwards gives a glimpse into the kindness and compassion that lies at the heart of Joseph's character. And while I am not surprised, for I witness his kindness every day, I am not complacent and do not take his good nature for granted. We know that there will be times when the demands of caring for a child with CF will impact on our relationship with Joseph, but we are resolved and determined that he will not be sidelined or left out. An active lifestyle is an important element in fighting the symptoms of CF and that is something we will all benefit from and we are in consultation with Joseph about the best sports and activities for us to try!

Samuel adores Joseph and smiles and giggles every time he sees his big brother. It gave me great pleasure today to watch Juliette doing Sammy's physio in his cot while Joseph stood on a chair, peering over the side and reading a bedtime story.
I know that no matter what the future will hold for us, Sammy with have a good friend and ally in Joseph and I look forward with all my heart to watching them grow together.

Clinics, Meds and wonderful support

Posted by Mark
So far we have taken Sammy to the CF clinic at the hospital twice. It is a place we will get to know very well as he is going to need to have a lot of appointments to make sure he stays as healthy as possible for as long as possible and to constantly monitor and adapt his treatment. At these early stages we are having contact with the CF team at least twice a week with hospital visits, home visits and 'phone calls. Each time we meet them there seems to be a slight alteration to his medication which can be hard to keep track of, so there is now a dedicated medicine cupboard in the kitchen with his daily needs listed so we don't forget anything. We are also getting to know our local pharmacist very well and he is being very kind in trying to scour the pharmaceutical world for a brand of flucloxacilin that doesn't taste disgusting. I'm not sure how successful he'll be but as it is the medicine Sammy likes the least it is worth a try.

It is a little sad to see Sammy squirming and spitting his medicines out and it would be lovely not to need them but they are certainly making a difference. Before diagnosis (and thus before medication) he was constantly feeding as he was so hungry and was quite hard to settle. Now he is putting on weight and has long periods of happy playing between feeds and has even been known to sleep in his cot for more than an hour at a time! In spite of his obvious frustration at having to wait until he's taken all his medicine before he can eat, he remains one of the happiest and smiliest babies I have ever met.  As I write he is giggling away at the star mobile above his cot that was made by our friend Helen in Australia.

And that brings me to the other theme of this post: just how important our friends and family have been during this time. I am reminded of a quote by kid's tv host Fred Rogers which is often circulated at moments of public catastrophe (most recently following the Boston Marathon bombing). He said:

“When I was a boy and I would see scary things in the news, my mother would say to me, "Look for the helpers. You will always find people who are helping.”

And it is true. We do not have to look very far to find people who are helping. Since telling people about Sammy's diagnosis we have been genuinely moved by the many offers of support and help that have come from our friends and family; from work; from shul and from Joseph's nursery. It means a great deal to me that so many people have contacted us to offer practical support or even just words of comfort and sympathy. And I am also mindful of so many others: the people who work in the CF team; those who campaigned to have CF included in the newborn screening so that Sammy and others like him would be diagnosed early; the doctors and geneticists who have devoted their working lives to helping families affected by CF, all of these have my deepest gratitude and thanks. 

We read in the Talmud of a wise man called Nachman Ish Gam Zu. He got his name because no matter what calamity he experienced, he would always say "Gam zu latova" - This too is for good" and I have always been inspired by his example. Now while I cannot with all my heart say that this too is for the good, and we must face and recognise the feelings of anger and unfairness that accompany diagnoses such as ours, I can say that it has helped to highlight for me the goodness that resides in people and the strength that we can all exhibit when confronted by the difficulties and challenges of life. So to everyone who has offered words of comfort and practical support, I would like to say thank you and rest assured we will call on you when needed.

Joseph's first anatomy lesson

It's great having a daddy who can draw and teach!  

Posted by Juliette 

This morning (9th June) we showed Joseph the cup (face mask) we are using for some of Sammy's physio. We then told him about Sammy's lungs. We realised he didn't know what lungs were (he's 4) so Mark brought Joseph's chalk board into the bedroom for an anatomy lesson. It was brilliant. Joseph knows lots of things about his body. He has picked up knowledge from things Mark and I have said, listened to Nina and the Neurons and Dr Ranj from CBeebies and built up quite a bit of knowledge of skeletons through a fascination with all things related to pirates (skull & cross bones). I was impressed. 

Mark and Joseph talked their way around a skeleton and internal organs and then Joseph gave daddy's drawing a suitable silly name.  

Mr Funnybonkheadgilly brainhead hearthead lungheadhands wavyness! 

Diagnosis Day

Posted by Mark
A day after we were told Samuel may have Cystic Fibrosis (CF) we were asked to go to the Royal London Hospital to have a sweat test to confirm whether Samuel had CF or not.

Although we knew that there was a chance that the sweat test would come back showing a negative reading for CF, we both knew deep down that the initial suspicion raised by the Guthrie test would be confirmed, and so it was. The test itself is fairly simple - put some sweat-collecting discs on the patient's arms wrap him up in as many layers and blankets as possible and wait half an hour for him to sweat as much as possible. The sweat is then analysed and if it has very high levels of salt, a diagnosis of CF is confirmed. Once Sammy's results were back and CF was indeed confirmed, we began to get to know the specialist team that will become such a vital part of Sammy's life in the coming weeks, months and years.

We had already met the two specialist nurses, one of whom broke the initial news at the home visit, and the other who took us through the sweat test. We then spent some more time with the consultant, the dietitian and the physiotherapist. The specialist nurse and dietician introduced us to a medication called Creon, the first of many medicines that Sammy will need to take throughout his life. As he gets older he will take the Creon as capsules but for now we have to spoon a tiny amount of it onto the back of a spoon that has been smeared with apple puree.

Some of Sammy's medication. 

We were also given antibiotics to give twice a day to stave off infections and some multivitamins to help maximise his nutritional intake.

Sammy also had some blood taken for further tests and also to determine exactly which type of CF gene mutation he has.

It was a very long day and there was a lot of information to take in but we left feeling very supported and impressed with the professionalism and dedication of the CF team, and with an appointment to return a couple of days later for his first clinic appointment.

If this is the first time you are reading this blog, make sure you read our Introduction page and our Early Days page.