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.

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Araminta

During my pregnancy we went round and round in circles looking for names. My husband and I simply could not agree. We started looking for names that ‘were a bit different’. My husband told me how he once met a girl called Minty. I loved it initially but thought who could actually call their child Minty!! Bonkers. But we looked up the origin of the name and found Araminta. We added that to our list, should it be a girl.

When she was born we spent all day going over and over, could we actually use this name. Will people think we are silly. In the postpartum room I read up on the amazing Araminta Tubman and it was decided there and then. Who was Araminta Tubman? She was born in 1820 and was one of the strongest, toughest women of her era. Born into slavery she escaped and led more than 300 slaves to freedom via an underground railroad. She was a suffragette, a humanitarian and spy. As a child she was beaten by her ‘owners’ suffering a severe head wound which plagued her for life, causing seizures, narcoleptic attacks and severe headaches. Harriet Tubman, widely known and well-respected while she was alive, became an American icon in the years after she died. A survey at the end of the 20th century named her as one of the most famous civilians in American history before the Civil War. She inspired generations of African Americans struggling for equality and civil rights. ‘Minty’ Tubman told others when she died she ‘will go to prepare a place for you’.

Naming our daughter after such an amazing woman seemed apt and an honour. Same day we found out her Ghanaian great grandparents were called Minta. We gave her the name of a strong, independent woman who fought her life through great adversity and hardship. Little did we know that 3 weeks later we would be told our darling Minty had a life-shortening condition of cystic fibrosis.

ImageMinty is now one and what a strong little darling she is. She’s proving to be feisty, energetic, humorous and assertive. Everyday she kicks the ass out of CF. She will be an inspiration to us I am sure. Rancid tasting medications, physio and infection is part of her daily life. We are used to it now. Last year we were in a dark place and now we are totally and utterly dedicated to supporting her and hoping for a cure. Who knows what her future holds? I hope it is a bright one.

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So where are we now? Next week she has her yearly check up, including her first bloods and chest x-ray. I am hoping that all is well and the continuous coughs and colds she’s had most of the year have caused no lung damage. (P.S. please add yourself to the organ donation register as someone and their family would love your lungs should tragedy befall).

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We’ve amassed a huge array of blowing toys for physiotherapy – many of which come from my lovely brother and his wife (a community paediatric consultant who has to deliver such diagnosis to other families). These are great as they help create positive end expiratory pressure which splints the lungs open nicely. Great gifts for any child with CF. (Avoid bath toy gifts with holes in that collect water and culture hazardous moulds). CF physio can be fun!! Siblings can join in too.

I’ve met and talked to some other amazing parents who’s children have CF. We’ve cried together and shared our stories. We give each other hope and support.

2013 was pretty bad in places, so I wanted to start 2014 with a bang. So I have assembled a team of amazing people who are going to jump 10,000 feet out of a plane with me to raise money for the CF Trust. Scared to death of it. Freefalling at 120mph might put hairs on my chest, or rather blow them off. I am humbled and extremely grateful for the folk who are joining me in this challenge. Why raise money for the trust? CF is a life shortening condition that kills thousands worldwide and is carried unknowingly in the genes of millions. There are around 10,000 people living with CF in the UK, only half will celebrate their 40th birthday. In the UK five babies each week are born with it and two people lose their lives to the condition. We MUST raise money to find a ‘cure’, help people and their families live better lives with the condition.

Please visit our team fundraising page and consider sponsoring us, however little you can give, many will appreciate it.

We are JUMPING FOR HOPE!!

P.S. Next week I find out if my anaesthetics training application was successful. Nervous.

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

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.

We weren’t expecting you, but you are here now. Cystic Fibrosis – The Diagnosis

In medical school, the cystic fibrosis lecture was memorable. The lecturer, I do wish I could remember his name because I want to thank you for the hope he instilled, was passionate. He conveyed his excitement about the new drugs in development for CF, raved about the possibilities of gene therapy and said ‘there will be a cure one day’. It was like a performance, an uplifting speech, much of which went over my head as he talked about delta F 508, CFTR and so on. Interesting, I thought, but that will never apply to me as we don’t have the CF gene in our family. For sure we don’t; I’d have bet £1 million that we didn’t. Especially as I’m half Ghanaian. No way. That’s the thing, you imagine that these things always happen to other people. That’s what my doctor husband thought too when he sat through the same lecture one year earlier.

Our daughter’s life had a brief 3 week period of no known CF. We received cards and gifts, fell in love with her and celebrated her welcome into our life. She will be my last baby and she took quite a journey to get here. We were thrilled to meet her.

Here she is!

Here she is!

It’s always on the power of hindsight you look back and see hints of things to come. The newborn heel prick was memorable as she was reluctant to give her blood. The midwife came another day to try again. I nearly said ‘don’t bother’ as those things won’t apply to her. The test took longer than usual to come back. Odd I thought, I think they are repeating it. Still, I thought nothing of it. Some three weeks later while feeding in the middle of the night I thought, ‘it’s still not back I better just give a call’.

Didn’t need to because at 9am one Tuesday morning a worried sounding health visitor called to say we needed to go to the children’s hospital at 2pm that day. She sounded like she didn’t want me to ask her any questions. Panic ensued and I Googled the name of the person we were to see. Palpitations set in as I saw that she was the CF specialist nurse. My husband tried to reassure me saying it was probably nothing and that the blood tests were going to be repeated.

Now, I often tell patients to use the Internet with caution as there is a lot of misinformation out there. Googling positive CF newborn screening I found such misinformation. Confident that this was a big mistake and that the test would be repeated we went down, I nearly told my husband not to come. As a doctor, I had no idea that the heelprick test could be diagnostic. Merely a screening tool for other tests I believed. There she was a lovely healthy baby with nothing wrong with her.

As we arrived at the hospital I knew something wasn’t right. We were ushered into a room quickly, taken out of the waiting room. I felt this to be a bad news room. When the specialist nurse and consultant walked in carrying and large folder with our baby’s name on I thought, this isn’t good. This isn’t good at all. Why was the consultant there, what did he want?

They began by asking how the pregnancy went and how she was doing. “Fine, OK, she was just breech that’s all,” I said. From then on he explained how the test had shown the 99.5th percentile for the enzyme produced in CF patients. The blood sample had already been sent all over to labs here and there. Long story short, two genes were found. “That means that she has a positive diagnosis of cystic fibrosis,” he said.

Stunned.

Terrified.

Devastated.

Shocked.

I looked down at my baby. It was like I had been told she was dying. That’s what it felt like, looking back on it now. I was shaking so badly I thought I would drop her. My dear 3 week old baby, what life does she has ahead of her I thought. Tears ran down my face as I looked at hers, so innocent and so new. How was this tiny baby going to live her life like this I grieved. “Is there any chance that its a mistake?” I asked. I knew it wasn’t but just had to be sure. I was simply unprepared, not that you could be, for the diagnosis. I would pull myself together for a few minutes then burst into tears again. My two year old tore road the waiting room as if nothing had happened. We asked questions, we absorbed answers, though probably only a fraction of what was said. It seemed completely surreal. This couldn’t possibly be my child. My husband looked pale, in shock and spoke quietly. He felt the need to be strong, matter-of-fact, optimistic to support my postpartum collapse.

I felt that her future had been re-written. I felt that she was facing an unknown world. I wondered if we were up for the job for looking after her. I remembered patients I had cared for on a respiratory ward and I remembered the battles these patients had faced, the antibiotics, their life in hospital, their lines, their life. I remembered the lady I helped prepare the papers for her lung transplant. All of this flashed before me. In a moment, I imagined quitting my job, my child being ill, my family and a trillion other worries all at once. Our family’s future was also re-written. It was too much to take in.

This is where the consultant said, “you must not change any of your hopes and dreams for her or for you all.” “You must live a normal life.” Lots more was said about her going to university, school and travelling the world. I realised by the end of the two hours we spent there that we did need to carry on as normal. She needed us to be strong for her, to be her rocks of support, her advocates and love her unconditionally.

Coming to terms with the diagnosis and quest for information I found it hard as words like, life threatening, fatal, lung transplant and so on stood out. I chose not to read information that told me her life expectancy is 41. I know now that those diagnosed through screening can do very well because we catch it early.  We are now around 3 months into prophylactic antibiotics, Creon, daily physiotherapy and the amazing multi-disciplinary care team support we have for her. This is where I truly understand and appreciate how each individual contributes synergistically to brilliant care. I shall not go into details as every patient has their own care plan and experience of this journey. What I will say is that now, more than ever, I know we must be grateful for the NHS and the service it provides.

Reactions from family and friends were unpredictable. That was very hard. All I can say is call people, communicate even if you don’t know what to say. We experienced a sad sense of abandonment which will stay with us forever. If you don’t know what to say, say just that “I don’t know what to say”. Cards and gifts stopped and her birth stopped being celebrated. Some even said “I bought a present for her but I feel that I shouldn’t send it now”. Please do. It has taught me that no matter what every child’s life must be celebrated and welcomed. Each child has taken a difficult journey to get here. That said, support has been great. It’s brought many family members closer together. Our family unit of six seems stronger than ever. I’m extremely grateful for my rekindled relationship with my youngest brother, who has been outstanding. Thank you to him and to you all.

If you would like to know more about what cystic fibrosis is please look at the CF Trust website. If you have a few spare pennies or pounds (not that many of us do these days) please consider a donation to the charity. In America? Try the Cystic Fibrosis Foundation.

I am hoping that in her lifetime we shall find a cure. I believe her future, though uncertain, looks bright. But there’s much to be done.

My daughter and I

My daughter and I