Raising a Little Lioness

‘What’s your name?’, we ask her. ‘Lion’, she replies and adds a lion roar to confirm this. Ask her again two hours later. ‘Lion’, she will reply, roar and laugh with glee. She knows her real name well. But on day 13 of 14 of our dear friends tobramycin, ceftazidime, flucloxacillin and colistin visiting if she wants to be a lion then so be it. You roar and you laugh as loud as you can. For you are our brave lioness.

Dolly has a PICC line too.

Dolly has a PICC line too.

Smiling with family!

Smiling with family!

Lioness bed hair!

Lioness bed hair!

Play in hospital with my brother. He misses me.

Play in hospital with my brother. He misses me.

Tonight after her last dose of IVs at 10pm, her PICC line will be removed and she shall come home again. This is her second hospital admission, her second GA and second course of strong IV antibiotics. A not welcome beast has arrived – pseudomonas. A pseudomonas complete with antibiotic resistance and a mucoid layer. Scum. Learning she had pseudomonas was in some ways similar to receiving the initial cystic fibrosis diagnosis. Shock, anger, upset, guilt, hopelessness and powerlessness. One of the few bugs we absolutely did not want her to get. Where were you lurking you ba**ard? Why her?

She fell asleep to Peppa Pig as the anaesthetic took control for her PICC line. She blinked only when the toe pricks were taken for her tobramycin levels. She carries on as normal. Her wee smells (ceftazidime), she’s gone off her food and has been separated from her siblings for two weeks. Yet, she has the energy and self-determination to throw her very expensive nebuliser across the room. She’s refusing this necessary treatment that she will take for the next three months. Play therapists have been deployed to make ‘it fun’. (Tips welcome.) Whilst not ideal I encourage her determined spirit, for it is that spirit that she needs to live with this awful condition.

It’s been hard at times to imagine the future. We are filled with fear. For the moment our hope has been dampened and we are full of worry. Worry is the reason I am awake now when I should be asleep. Worry is the reason I am cleaning every nook and cranny of the house with medical grade sterilisers, even though we cannot eradicate the bug from our home. I cannot wipe every page of each book, every lego brick and cuddly toy. But I feel at least I am doing something. Worry is the reason I follow orphan drug blogs, medical journals, CF research sites avidly. Worry is the reason that I believe her ongoing cough that remains despite these antibiotics means she has not cleared pseudomonas. Worry is the reason I am finding it hard to imagine the future. I am waiting you see. Waiting for the moment I read an article or piece of information that will change her future. A drug, a treatment, a cure even, that her life and future can be returned to her. For Pseudomonas makes her future bleaker. Time is precious. A cure or treatment cannot come fast enough. Around 50% of those with cystic fibrosis die before aged 40.

I was a person who really never did any fundraising before this, didn’t often donate either if I am honest with you. Now, if someone is running, swimming, baking or who knows what else I know the passion they feel for their cause and want to give what I can. Fundraising makes me feel like I am doing something. It removes some of that sense of powerlessness over the condition. It is something for her future AND the future of all of those with cystic fibrosis. For their parents, grandparents, sisters, brothers, cousins, aunts, uncles, friends and family. By giving one person a better life you are affecting all of those people. I have no active fundraising at the moment but we have an ongoing page here. 

But one thing you need to know about lions, they are considered a vulnerable species by the International Union for Conservation of Nature. They are endangered and we must protect them. Like my lioness her future lies in the wider global community of researchers and pharmaceutical companies (like Vertex). But we carry on for now at home. We love her, cherish her and live life ‘as normal’ supported by the excellent care provided by her CF multi-disciplinary team.

I shall leave with this video by OneRepublic.  Please watch and be inspired, thank you for sharing the story of this amazing teen with CF.

P.S. Many thanks to our amazing family and friends who have supported us through the difficult weeks. Every message, meal and hug has been appreciated.

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

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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