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.