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.