Manchester Cystic Fibrosis Parents and Carer’s evening and Joe update

Tuesday was a very busy day. Not only did Joseph have pre-school, we also had to go to our first Child Psychology appointment and Rob and I went to the Parent and carers CF evening for Manchester.

Joseph’s psychology appointment went well, it was an initial assessment where we talked about the issues we are having and the psychologist took notes, asked questions and decided whether they thought Joe would benefit from the psychologist support.

Without going into too much detail we discussed the issues Joseph has with food and mixed in with those issues are some problems with anxiety and “rituals” he performs as a means, we think, to cope with his anxiety.

In conclusion the psychologist thought we could benefit from further treatment, has suggested a possible referral to a speech and language therapist, has asked us to keep a diary of the issues and has put us on the 5 month waiting list to start some observations which will take place at home and in the preschool setting.

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So all in all it was a positive appointment, these issues are very complex and evidently it’s not going to be an overnight fix, but we feel better just knowing we have more support in the pipe line, and I feel like my concerns have been validated by a professional.

The Parents and carers CF Evening was successful too. As far as we are aware we were the only parents from Blackburn hospital to attend but I did recognise some of the staff from the Manchester CF team as Joseph has a clinic with them once a year for annual review.

We had talks on Research by Dr Alex Horsley who is the senior Lecturer and Consultant at Manchester Adult Cf Centre, Microbiology by Phillipa Burns the Microbiology Quality Lead, Director of Laboratory Medicine at Manchester and an Update on new treatments including Orkambi by Dr Anirban Maitra who is the Paediatric Respiratory Consultant and CF Director at RMCH (Royal Manchester children’s hospital)

Although the event was quite informal, the talks were very detailed and quite complicated- unfortunately that is the way with Cystic Fibrosis, it’s a lot to get your head around! Although I did not understand fully everything that was said, I definitely found the talks informative and it helped me to understand some big issues and processes more clearly. The following is a bit dry so I don’t blame you if you switch off!

In the Research talk by Dr Horsley I found it interesting to learn about the classification of CFTR genes (Cystic Fibrosis Transmembrane Conductance Regulator) and what the different classifications mean.

There are up to 2000 types of cystic fibrosis gene mutations known currently and more being found all the time. The genes are set into classifications which describe what happens at a cellular level that causes Cystic fibrosis.

From what I can gather in layman terms (I am not a scientist by any stretch of the imagination!) the proteins in the cell make channels that allow salt and water to be regulated in and out of the cell wall.

Class 1 mutations basically mean there is an error in the gene which means that the gene can’t make any or enough proteins to begin with.

Class 2 mutations mean the proteins get made but they look “odd” to the gene so the body breaks these proteins down.

Class 3 and 4 mutations mean the proteins get to the surface but can’t let anything through the cell wall.

And Class 5 mutations mean a few proteins get through but not enough for the body to function normally.

Around 66% of the population of people in the UK have two DF508 genes which are a class two mutation, and drugs like lumacaftor and Orkambi target the problems in this area, and the class 3 and 4 mutations, and this is where the majority of research is focused on making a change, as it affects the highest number of patients with CF, and is the area they have made the most headway on.

Joseph has a rare gene which I believe is a class 1 mutation, but I am not 100% sure of this and I am currently trying to gather further information. It is possible that it is so rare that they have yet to discover what classification it is and it may be impossible at this time to predict in any way how this mutation will affect him. All we know currently is that there is no research into class 1 mutations at the moment that Manchester knows of and that the current revolutionary drugs like kalydeco, lumacaftor  and orkambi will have no benefit to Joe if it is a class 1 mutation.

Dr Horsley also talked about the research process, how they get funding and explained why the research process is such a long slow business, the steps for starting a research study are as follows;

  1. Get an idea for study or medicine
  2. make a protocol- which means provide lots of evidence and a rationale and plan
  3. its sent to experts for review
  4. then for an ethics review
  5. then the MHRA (if a medicine)
  6. then the NHS Trust and CF Unit
  7. only then can patients be asked about the study.

The Microbiology talk was interesting but very difficult to understand with a lot of scientific talk! Microbiology is basically the study of micro organisms like bacteria, viruses and parasites) which obviously affect people with CF and cause problems like lung infections.

The microbiologists use the cough swabs and samples we and all other cf patients send in to look for microbes that may be problematic either by method of cultures- where they are grown on a petri dish, or through a microscope. It takes up to six days to grow the bacteria in the cultures and that is why it can sometimes take a while to see the results of your cough swab. The microorganisms that are grown from cough swabs and samples are then tested to see what antibiotic will be the best form of treatment.

Clever stuff.

Is your mind frazzled now? Ours certainly were!

The final talk was discussing why Orkambi has been refused in the UK, basically it comes down to the cost £104,000 per person PER YEAR. Orkambi only increased lung function by around 3% so the cost wasn’t seen as being worth it considering the small benefit in lung function. Arguments are that it isn’t all about lung function and that Orkambi helped in other ways such as increasing BMI in patients and that people on the trial of the drugs felt like they improved health wise.

Right, if you’re still reading this well done!

Hope it wasn’t too complicated…my son has CF and I still don’t really understand it but hey, we can only learn!

knowledge is power!

 

 

 

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