Potentiators, Correctors & Genes – CF Week June 24- 30

ImageAll over the world scientists and doctors are working on transformational treatments for those living with CF.  In trial, use and development are treatments to correct the genetic defect (gene therapy), correct the function of the faulty gene (correctors) and enhance the activity of the gene (potentiators, such as ivacaftor). In one of my recent blog posts I talked about thanking the lecturer who has instilled hope in me for future cystic fibrosis treatments. I wanted to remember his name so I could thank him. Imagine my surprise when I turned over the page of the CF Trust ‘Is’ magazine to see his photo there. So thank you Dr David Sheppard and all of you researching the CFTR gene and developing treatments so that people like my daughter have a brighter future. Huge sums of money are involved in developing treatments and using them in the CF population. I read that ivacaftor (Kalydeco) costs £180,000 per patient per year to be used. Research and treatment costs money; CF Trust is one organisation supporting such research. Donations to such bodies are vital, whether its £1 or £100,000 pounds every penny counts.

This week is CF Week, a national fundraising and awareness week. The theme this year is transplantation.

  • 1 in 3 people with cystic fibrosis who are on the waiting list will die before they can receive a lung transplant
  • 4 out of 5 donated lungs are not used

The gift of organ donation cannot be underestimated. As a doctor I’ve observed difficult discussions with family and friends about whether your loved one is on the organ donation list. I’ve met patients who’ve been given organs and cannot thank their donors enough. So please, if you are not already, add yourself to the Organ Donation list.  For CF Week – to get involved with fundraising activities or to donate money visit the CF Trust website.

That’s it for now. I’ve talked a lot recently about CF and promise I shall return to other topics in future blogs. On a personal note, our camping trip with 4 kids was good fun, my infant daughter with CF was the easiest of all kids. Just took her meds and a fridge and did physiotherapy while sitting outside in the field. Lovely. My toddler tore around the site until 10.15pm until Grandpa pinned him down to the bed to go to sleep. My teens moaned almost non-stop – “crows are too loud, water tastes funny, its boring, beds uncomfortable” etc. Maternity leave is soon to end. What an unpredictable yet immensely rewarding time it has been. I return to work in less than 4 weeks. Quite apprehensive especially as baby is still fully breastfeeding and reluctant to take the bottle. I finish my foundation year 1 part time, then start foundation year 2 full time in General Practice. In the past month I’ve started 2 audits, I’ve got ALS in 2 weeks so work is always never far from the daily agenda. So I’m sure there’s much more to talk about!

Take care.

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Play & Exercise as Physiotherapy for Kids with Cystic Fibrosis

Jumping for Joy & Health

Jumping for Joy & Health

As a mum of a baby with cystic fibrosis, toys and fun play can form an important part of daily physiotherapy.  Exercise is also integral to encouraging healthy lung function and enjoying life. Blowing and bouncing, what’s not to love?

Our CF nurse suggested starting a collection of blowing toys, which surprisingly aren’t as commonly available as I initially thought. So I’ve started a board on Pinterest with such toys after finding that searching for blowing toys often brings up results including toys of a sexual nature! You will not find such toys on this board.

Other Useful Links

Here is another excellent link on breathing games for children with Cystic Fibrosis and another on trampoline jumping. Physical activity is encourage and many people with CF live extremely active lives, running marathons, playing professional sport and climbing mountains. Some true inspirations. This link shows people in the public eye diagnosed with cystic fibrosis.

Here is a wonderful blog, Run Sick Boy Run,  that states ‘Blessed with Cystic Fibrosis and a positive attitude, it is my duty and passion to show the cystic fibrosis community that anything is possible through this blog that discusses the daily trials and triumphs that accompany not only life, but a CF life.’

Please feel free to add comments and suggest links that you think may also be useful. This is a work in progress.