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.

More than a year on and doing well

This blog is now more than one year old! (Which of course means that so is Sammy - Happy Birthday, Sammy!)

Apologies for not having updated this in a while, but you will be pleased to know it is because everything has been going pretty well recently. Sammy is now 14 months old, running around, exploring, learning and bringing us much joy every day.

On Friday we had a clinic visit and everyone was very pleased with Sammy's progress. It was a very long clinic which began with a chest x-ray (for which Sammy sat beautifully) and then visits from the Play Specialist, the Physiotherapist, the trainee Nurse, the Dietitian, the Nurse Specialist, the new Nurse Specialist, the Consultant, the visiting Fellow and the Psychologist. Sammy was quite happy to have so many different people fussing over him and telling him how cute he is.

In August we will be having Sammy's first Annual Review where the team will do a full MOT on Sammy and check an a lot more things than they do routinely. Part of this means that this visit they had to take blood for testing and he did wonderfully. He didn't even make any fuss when the needle went in but I noticed he was watching the whole thing with a look of slight confusion and puzzlement. It didn't seem to bother him at all though and he gave the phlebotomist a very friendly wave when he was finished.

It is quite an exciting time in the world of CF at the moment. This week a drugs company called Vertex published the results of a clinical trial that was testing the effectiveness of a combination drug therapy on people with CF. The results were pretty encouraging and showed a significant reduction in the amount of infections people were getting. This is good because every infection can lead to irreversible lung damage. Unfortunately for Sammy the drug doesn't treat his particular genetic mutation, but it is a big step forwards nonetheless and we are hopeful that something for Sammy will be coming along soon. Until then we just have to keep Sammy as fit as possible so that he can fully benefit from whatever treatments come.

You can read more about the drug trail results at the CF Trust's website here:
http://cysticfibrosis.org.uk/news/latest-news/promising-results-for-combination-therapy-for-cystic-fibrosis

Happier News

Posted by Mark

Just a quick post to say two things really: One is to say a huge thank you to all the people who were thinking of us after the news that Sammy had got a bacterial infection and the second is to say that today we got the results of his latest cough swab back and he is all clear!

This is great news for us as it means that the extra antibiotic and extra physio got rid of the infection very quickly and it is unlikely to have done any damage to his lungs. We are very very relieved and as always, very grateful to our excellent CF team at the hospital who have been on hand to help us through.

To go with the happy news, here is a happy pic from a couple of weeks ago of a happy Sammy and a happy Mummy at bathtime.

Crushing News

Posted by Juliette

Hi everyone.

We received some bad news some days ago which felt like a huge blow to our hearts and stomachs. To some families living with CF this may be very normal and may, unfortunately for them, happen regularly but for us this is our first time and it made us feel like we were crashing back to earth. That CF is real.

Sammy's cough swab results came back from the lab showing there is a bacteria living inside him. It's called Haemophilus Influenzae. Having a bacterial infection is very bad for Sammy as it could permanently damage areas of his lungs. He is on an antibiotic which is designed to kill this bacteria and we hope so much it will kill the bacteria before it does any damage.

This is a big blow for us as we felt that Sammy had made it to a year (nearly, he's 11 months old) without getting anything more serious then a cold. We have been reassured by the CF nurses that of all the bacterial bugs that could have grown this one is not particularly strong and we are trying to hold onto that thought.

Sammy is doing ok and trying to play despite feeling lousy, he is more cling then usual which is to be expected. We will give him an extended course of the antibiotic used to fight this bacteria and have another cough swab taken in a weeks time. We pray that the Haemophilus Influenzae is gone then.

A little less time

The only non-blurred photo

Posted by Juliette

We have been kept very busy by little Sammy and have not had the time to post a blog recently. Friends keep saying sorry for not keeping up with the blog and ask how we are doing but there has been nothing posted to have kept up with so no one should feel bad. We know lots of you think of us. Thank you for doing so.

So what have we been up to? Well fortunately we have just been kept busy with fairly normal baby things rather then sickness things. Sammy started weaning at 6 months, crawling and using a baby walker at 7 months, has had a bit of fruitless teething and now he is 10 months old he is starting to take his first independent steps! He has also started talking. Can you see why we've been so busy now? We are doing great though.

So about the weaning: it is going extremely well, Sammy just eats and eats. His portions are often bigger then Joseph's. I thought perhaps it was a CF thing but now just think he currently needs a lot of fuel to run his almost constant activity. Sammy and I are doing 'baby led weaning' which essentially means Sammy is given whatever we eat and he self feeds too. Its either something he can hold in his hand like a sandwich or piece of pear or I give him a loaded spoon of things like soup, flaked fish or yoghurt that he puts in his mouth. It's a messy business for several months as he learns exactly how to get the spoon in his mouth without losing its contents on his cheeks and chin but his 'Yoghurt Beard' or sometimes 'Green Pea Soup Beard' is getting smaller as he gets more proficient. You won't catch me steaming, pureeing, freezing, defrosting and reheating food for Sammy, I don't have the time or energy for that so he just eats the same as us and we don't have any fuss over whether something is finely pureed or has the odd lump in it plus it is a delight to watch Sammy turning a piece of food over and over in his hands peering intently as it as he explores the food he is eating.

One major difference with weaning a baby with CF is that for every gram of fat Sammy eats we have to make sure he has the correct dose of enzymes (Creon). This means lots of label reading on packets and calculations at every meal which we're getting the hang of too. (Well we are at home anyway, we haven't braved eating out at friends or restaurants yet - will I have to ask people to measure how much oil they added to this and tell me how many eggs went into that and please show me the packet for the desert? I don't think I can, or if I do we'll never be invited back! No, I have just now decided to ask people the day before we go to tell me what we will be cooking and I'll calculate the fat and Creon ahead of eating there. It's got to be worth a try.)

As a result of his CF, Sammy needs to eat about 50% more fat plus loads of salt and fluids too. I'm waiting for the time when I'm out in a cafe adding salt to Sammy's fatty pizza and some busybody comes and tells me I'm poisoning my child or worse. Don't worry, I'll blog about it when it happens!! I heard from the CF nurse that one mum was so fed up with everyone staring that she just said to all the strangers in the restaurant "My child has a medical condition which means she needs twice as much fat as other kids and a huge amount of salt just to be healthy. I'll happily answer any questions you have if you want to come and ask me but if you don't have any questions then stop --- staring and mind you own --- business" (you fill in the blanks). Hooray for that mum. Another parent told me you just have blinkers on and don't even notice the people around you who watch you and tut or talk about you. I'm cultivating my new thick skin!

Sammy has a milestone of his very own. I know not many other kids can do this. At 10 months Sammy will take a syringe full of medicine and not only put it in his mouth but suck all the medicine out. Should I be proud of this? Half of me is and half of me wishes he'd never seen a syringe. However I can now believe the nurses when they say that 2 year olds swallow Creon capsules!

So Sammy is hitting all his milestones head on and we are running after him just trying to keep up but absolutely loving it.

So I'll leave you with a little mental image. Sammy is walking more and more each day, he loves practising his new skill. His walking style is brilliant to watch, back straight and arms up in the air for balance, then with each step he punches the air with both hands. Its like every step is his entrance to a party. If you can't quite picture it think Tevye in 'Fiddler on the Roof' singing 'If I were a Rich Man' ... Ya ba dibba dibba dibba dibba dibba dibba dum... Yidle-diddle-didle-didle-man.
Got it?