Delta F508 Meet c.2657 +5G>A and Make Some Mischief


As their genetic eyes met across the cell, they sound found themselves entwined in a troublesome romance. As my husband’s c.2657 +5G> (former name 2789+5G>A) A met my naughty Delta F508 mutation, the two of them set about to cause some very serious mischief. Unravelling and understanding the complexities of this relationship keeps many a scientist awake at night. To those scientists and researchers shut in rooms for hours on end beavering away researching ways to improve the lives of those with cystic fibrosis, I say one thing. THANK YOU!

Today I was privileged to visit Dr Sheppard’s lab and see the research hoping to improve the lives of those (and their families) with CF. This is the researcher I blogged about earlier in the year. This is where a some of the coffee morning fundraiser money could be spent. Being in a lab made it more real and revived my quest to raise more money for research, individuals and families affected by CF. Many of you are blissfully unaware that you may carry a mutation that could cause CF. If your genes mix with those of another 1:25 of us who carry the gene and the dice fall in a particular way, you could have a child with CF. My dearest daughter the Marvellous M carries this blend of mutations, I discovered today that there are only around 30 in the UK that carry her rarer gene (c2657 +5>A). If you are one of those, please do comment. FYI – she’s pancreatic insufficient.

Anyway, I learned more about the work of Vertex and other companies, researchers working on treatments. The magic blue pill, Kalydeco, has changed the lives of many. I long for the day when my daughter can take a magic pill and lead a more normal life. I was reminded today that we need drug companies. Sure, it’s fashionable to bash them down, but without them and the vast sums of money it requires to create a new drug we’d be nowhere. I saw the effects of adding ivacaftor onto a CFTR channel today. Bonkers. Teeny tiny pipettes are used to drop miniscule amounts of the drug onto non-working genes, oversimplifying it they open the channel and enable the cell to function more normally. It takes 3 months to train someone to use one of these pipettes and they sit there for hours experimenting with cells and spend weeks writing up the research. While you sit in your lab know that there are thousands of us who are extremely grateful, lots of people waiting and waiting for the fruits of your labour.

As a mum and doctor I find it hard to accept the life my M has ahead of her. Actually, I won’t accept it. I will always speak out for her, help her and do what is absolutely necessary to keep her as healthy as she can be. Even if that means measuring out miniscule amounts of pancreatic enzymes with the light on in the middle of  the night for her late night feeds. People often say ‘how is she?’. Really, that is a very hard question to answer. For the most part she’s great. She’s a joyful, gorgeous girl living as near a normal life as possible in this crazy busy household with her three lovely siblings. Though, she’s had a cold/infection for all but 7 days of the past two and half months. I have no idea what damage that may have caused her lungs. It’s hard to respond when people optimistically say ‘she’s got a mild form, right?’. Impossible to say, ask her in 20 years time. Yes, she is fine really, things could certainly be much, much worse. Bizarre though that she gets disability living allowance. Looking at her it seems surreal. But I remember that many people’s disabilities are not always visible to others.

Now back to other things. It’s been months since I’ve updated this blog as I am now working full time. There are not enough hours in the day to do everything. Getting more distant from friends, household chores lists get ever longer and meal times have shifted later in the day. By the time we get home from work it’s bath, cooking, clean up etc, quite often don’t sit down until gone 9pm and then it’s time for bed as dear M still wakes 2-3 times at night. Four children and working full time is crazy really. I feel like I’ve aged 60 years. I’m hoping things will get easier when she starts sleeping at night.

I’m busy getting ready to apply for specialty training. It’s so competitive here I’ve got my work cut out. Fingers crossed. Been doing general practice and have learned the most I’ve ever learned since medical school. While it’s not for me I have gained a whole new level of respect for GPs and their hard often unappreciated work. When I return to the hospital in 2 weeks I shall make my discharge summaries better, call you more if there’s something you need to know about your patients, understand that by the time the patient gets to me you’ve already done a tonne of work on differential diagnosis. I could go on. I’ve been at the receiving end of some frankly rude secondary/tertiary care doctors who talk to GPs like they are some lesser doctors. Totally unnecessary. I’ve seen and met some remarkable people.

My teenagers are back at school, working hard. I finished reading my eldest daughter’s first novel called Tacita about a roman gladiatrix – very good and a very proud mum. My number two daughter continues to worship Justin Beiber, I do wish that one day he would reply to one of her tweets. My toddler boy is leaving the terrible twos and now dropping his nap – which makes evenings bleurgh. Our nanny has made our lives a million times easier and enable us to work and have fun with the children when we come home. I couldn’t do this without her. Thank you J!!

Bed awaits…

P.S. the picture is a typical morning of meds for M. There are two antibiotics there – given that it’s antibiotic awareness week please use them responsibly as she needs them to keep her alive. Thanks x