A Quest for a Normal Life

In the UK more than half of the people affected by Cystic Fibrosis (CF) will live past the age of 41. As a parent of a child with CF you have various statistics in your mind at various times, but most of the time you try not to think about it. A few months ago I questioned that statistic as we thought that our Minty wasn’t going to make it through her chest infection aged just three. I can write about it now, but that was a shocking moment. 41 years old seemed like an eternity. As doctors my husband and I knew she was seriously ill. Her respiratory rate hit 70, heart rate 180, temperature was 41, she needed oxygen to maintaining her saturation and had not passed urine in 24 hours. She sustained this for hours and I wondered how her little body could keep going having had a general anaesthetic and bilateral lung collapse. We thought she was going to have a respiratory arrest. Those days were bleak and cystic fibrosis had taken over her life. But she recovered. We recovered.

It’s interesting to see how a three year old perceives her condition. She knew she was ill and knew that hospital was where she needed to go. Her choice of clothing that day is reflected in this poignant picture. She had planned this outfit to arrive in hospital. It was her best party dress. She walked into the ward proudly and then sat on the bed. She looked down and tears filled her eyes. I asked her if she was scared. ‘Yes, mummy’, we paused, snuggled and then she jumped down holding back her tears and played with her dollies.

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She choose this dress specifically to go to hospital. She walked onto the ward proud, sat on this bed. When she looked up, there were tears in her eyes and she said she was scared. She then, held them back and started playing. Tough.

This week she completed her first lung function tests, getting 110% of predicted. She’s getting ready to start nursery soon and we’ve written her care plan. I thought I would share our philosophy for living a normal life, with normal activities and hopes and dreams.

‘We believe Minty is a magical little girl! She inspires us daily and is tougher than we imagine. She is independent, funny, caring, sociable, exuberant and extremely adaptable. She does not see herself as ill or suffering. She sees herself as any other little girl, but sometimes she goes into hospital and every day she takes medicines to keep her well. This is her normal life and we make it normal for her. Even when she is really ill and goes into hospital, she goes there to get better and in her last admission she knew she needed to go to get better. CF is a journey that we all learn from all the time but we have developed a philosophy that we hope anyone who looks after her shares. Minty is number four of four children, she has one older brother and two older sisters.

We only use positive language surrounding the condition. She is living with it, she is not suffering, she is not ill. Medicines are not ‘yucky’ or inconvenient. Avoiding certain things are to keep her healthy not ‘stop her from getting sick’. Physiotherapy is to keep her fit and healthy. When she doesn’t want to do it we suggest that she wants to feel great or well. She remembers what it’s like to be unwell and go into hospital, she is able to make the connection and will always pick to do the things that keep her healthy if she needs a bit of encouragement.

When talking to others in her presence about her condition we remain positive in our wording and attitude. This enables her to remain positive in her attitude to treatments, and by her engaging actively that will give her the best chance of a healthy long lifetime.

However, CF is a life shortening condition with a life expectancy in the 40s. With good care, children like Minty are looking forward to much longer life expectancies. It is also important to allow her to feel rubbish, angry and sad. It is important to remember that Minty getting a cold most of the time will be fine, but frequently may result in two weeks of oral antibiotics or sometimes a hospital admission with a general anaesthetic, PICC line insertion and 2 weeks of intravenous antibiotics. She has had 3 admissions so far, we hope to keep them to a minimum by following good CF care. There are many treatments in development, gene therapy, medications and more. As a family we keenly await these for her, we fundraise for CF Trust and keep an eye on research.’

Here is Minty running a toddler race. She may be last but she’s living life to the max.

Follow Magical Minty fundraising efforts on our Facebook page or twitter @magicalminty_cf.

 

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Being a Junior Doctor & Parenting a Child with Cystic Fibrosis

Last week junior doctors staged another strike in opposition to the proposed enforcement of Hunt’s Junior Contract. A contract which most doctors believe will endanger patient lives and destroy the NHS. On the eve on the third strike, while my daughter recovered from anaesthetic I wrote the following piece.

“My husband and I are both junior doctors. Unfortunately, we cannot join the picket line this time.

We aren’t there because we are in hospital with this little one.

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Smiling despite low oxygen saturation and high fever.

Our three year old daughter has cystic fibrosis. She’s not been well recently and she’s in for a general anaesthetic, bronchoscopy, fixed intravenous line and two-week course of heavy duty antibiotics. The NHS is so vital for her care and future. We have no doubt that she will be well cared for the next two strike days.
The junior doctor fight is for every patient and every person working in the NHS. Doctors looking after her (and everyone else) should be well rested, motivated and valued. She starts nursery soon, we’d like to see her and our other children at weekends. We already work many weekends away from them. CF shows us that life is precious; it is too short.

Doctors involved in her care over the next two weeks will be many; junior doctors, respiratory consultants, anaesthetists, radiologists and microbiologists. But also ward nurses, recovery nurses, operating department practicioners, specialist nurses, student nurses, ward clerks, pharmacists, pharmacy technicians, porters, health care assistants, domestics, dieticians, psychologists, physiotherapists, radiographers, play specialists and more. Behind the scenes are lab technicians, estates workers, IT staff, medical secretaries, central sterile services team, theatre managers, ward managers, volunteers, security staff and a huge long list of others.

We all work together for our patients. We make something pretty amazing. To think that adding just junior doctors to the ward at the weekend is all that is needed ignores the rest of that amazing team.

When times are tough, we remember this phrase, ‘Dum Spiro Spero’. It means while I breathe I hope. Perhaps one day there will be be a cure for CF. We try to remain hopeful about the junior doctor ‘fight’ too.

Junior doctors are standing up for the future of the NHS. Let’s all stand together. Good luck, we’ve got our badges and banners on the ward ready for tomorrow. She says a big thank you for everyone looking after her.

Mr Hunt, I request that you engage with us and take our concerns seriously.”

Since then, she has been recuperating in hospital and faces further treatments prior to discharge home. The contract in short, may mean many doctors simply cannot afford to work in the NHS, whether financially or emotionally. Minty’s story was featured in The Independent and on Doctors of the NHS.

As always, fundraising for the CF Trust is a goal. Minty’s Godfather and family friend aim to cycle from London to Paris to raise money. Find out more about Magical Minty Cycling Team on Facebook or donate here.

To understand more about the Junior Doctor contract this recent Facebook post is an excellent summary. 

Impatiently Waiting

Dolly is getting a wash.

Dolly is getting a wash.

Still no microbiology results. It’s been a week since her admission. I started to worry about the lateness of this results. Largely in part due to her newborn screen taking three weeks as they verified her rare CF gene. I started thinking they are repeating things. Something must be bad. But apparently everyone’s are delayed due to the bank holiday. I hope so. I really hope so.

One week down and I cannot wait to pack up her things and take her home. The thought of one more week is driving me mad. I feel that the family is fragmented into small bits and we are all apart. Zac is being looked after by our lovely nanny Jema, he’s managing somehow. Minty wakes up each morning and calls Zac through the door. My older girls are trying to keep themselves busy this half term, largely looking after themselves as I cannot take them anywhere really. It feels like I’ve not seen them at all in weeks. I miss them all. I just want us all together in one house at the same time. It’s made worse by both my husband and I have a particularly bad run of shifts at work. We’ve not had a weekend together as a family in two months. But that’s another story.

Minty has changed in the past week. She has grown up. I’ve changed. We’ve all changed but I don’t know how. You would never know in looking at her what she is taking in her stride. Her long line is still leaking but still in place. Her wee smells bad, one of the antibiotics I assume. She’s coping well in one small room. The room is hot. Stifling at night. It’s hard to sleep. It’s no wonder patients spike temperatures all the time. We run in and take cultures when perhaps all that’s needed is a open window! She’s taken to cleaning the room with baby wipes, then sucking them. This is driving my CF mum and infection control side bonkers. She wipes the bins, under things, cupboards, then wipes her face, sucks it and laughs. Argh!! When I take away the offending wipe she screams in utter fury. How dare you, she looks. She then wipes the floor, our shoes and then her face. My mind boggles with MRSA, E Coli and who knows what else. The more I try and stop her, the more determined she is. She sees the cleaners in the room several times a day and is copying them. She gives meds to her dollies and who knows, perhaps one day she will be a doctor or a nurse (I hope not!)

Being on the other side of ‘doctoring’ I am so much more aware of how patients must feel. We wait. We wait all the time.

For results.

For medicines.

For ward rounds.

For time to pass.

For medicines to work.

For tests.

For going home.

For drinks.

For meals.

For discharge plans.

For discharge letters.

For discharge meds.

We learned in medical school how patients adopt the sick role. To a certain extent you have to as everything is beyond your control you have to accept that you will wait and rely upon those around you. The waiting is of no means a criticism of the staff that are caring for her. They are caring for loads of other patients too. We are all flat out. It’s the way the system seems to operate, the culture of being in hospital. I never fully realised when you sit there waiting all day to chat to the doctors, the few minutes they come in and out is a flash in a very long day. You always are left with questions.

On a positive note, we’re learning some great new physiotherapy techniques from her twice daily physio sessions. She’s enjoying them and we can’t wait to add them to our routine at home.

Tomorrow our Magical Minty Skydive Team is collecting money for the CF Trust. Very exciting indeed. A permit has been granted by the council, so in Park Street and Queen’s Rd, Bristol buckets and t-shirts are out. We may try and pop out if we can. It’s only 1/2 a mile or so from the children’s hospital.

Thank you to everyone who has supported us so far. Thanks for messages and emails x

Magical Minty – Early Days of First Admission with Cystic Fibrosis

This is my magical Minty. At 16 months she is showing me a thing or two about life, always smiling and just carrying on with things despite facing things many adults with never face.  But today I am feeling angry. No wait.. tearful, optimistic, scared, exhausted, worried. I’ve no idea really. A mixed bag of emotions. I would say the past few days have been unpleasant. Though the extra snuggles and joy I’m getting from Minty make it better. As does watching her cheeky face wave at babies in neighbouring hospital rooms or her stern glare when nurses or doctors try to talk to her.

Friday was the worst day by far. She was nil-by-mouth from the morning, wheezy and waiting for a bed. At 11.30 am still no bed. Then the bed managers juggled and she had a bed. On the list for general anaesthetic and bronchoscopy at 2pm. Bags packed for a long hospital stay (10-14 days expected on IV antibiotics) we arrived. Taking her down for anaesthetic was scary. Holding her in my arms as she was put to sleep was awful. I tried to remain calm for her, snuggling and kissing. Truth was I was 20 times more scared than when I’ve had my own anaesthetic. Leaving her in the care of others and walking away in tears. We passed the time with difficulty. Uncertain what to do. Coffee?? Stomach couldn’t digest it anyway. After 2 1/2 hours of waiting we became very anxious and just wanted her back in our arms. The bronchoscopy was done, the thing that took the longest was inserting her long line. They couldn’t get a PICC in due to her chubby arms (lovely things they are) and had to settling for a Leader Cath (never heard of it), sort of a short long line. It won’t last her length of antibiotics so we will cross that bridge when we have too. But I fear it involves another GA.

Having her back in my arms screaming and smelling of sevoflurane was a huge relief. The first night was terrible, she thrashed and had a chest sounding like a bag of wet sponges. She spiked temps, had a fast respiratory rate and fast pulse. I tried to sleep in the pull down bed next to her, but found myself staring at the monitor and numbers all night. Pulse 116 – good. 168 – not good. And so it went on. Being a doctor and a mum can be a worrying combination.

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Messing about with daddy!

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Trying to escape – Day 2

 

Dose of steroids and some salbutamol and in the morning she was much brighter. She’s on Tobramycin, flucloxacillin and ceftazidime for antibiotics. She’s almost back to normal now. But she’s exhausted and running on adrenaline. Her nap routine and sleep is totally obliterated and she’s all over the place. I have stayed with her since Friday night and had a guilty night home last night when daddy has stayed with her. I’m getting ready to go down as soon as possible as I don’t want to miss the ward round. She’s cultured haemophilus influenzae so far. No idea what this means in terms of her normal prophylactic regime. Was hoping she might get discharged early, but probably not so. Counting the hours until she is home and normal family life resumes. Just want her home. Good thing is she comes home between doses. From about 11.30-5 we are at home, which is great. I am incredibly grateful we live 15 mins away from the regional CF team. The hospital is very good and nurses and doctors have been lovely. Thank you.

Her siblings miss her terribly. She wakes up in the morning shouting their names as if they are also in hospital ready to play! Better go now. But some leaving thoughts from being on the ‘other side’.

Bed managers are important, people are waiting at home to come in. Whole families waiting on news of a bed.

Be considerate when talking loudly during night shifts. The hospital is our home for a couple weeks and being woken constantly is terrible. Sleep deprivation is terrible. Same goes for noisy families – keep it down PLEASE!!!

Discharge letters are important. I overheard an SHO responding when asked to do the TTA. ‘WE ARE ON THE WARD ROUND. IT WILL JUST HAVE TO WAIT’. I heard the tears of an anxious mum and lively 5 year old desperate to be home for the weekend. The fact that the TTAs cannot be processed after 2pm may not be important to you, but that meant that child could be home on a bank holiday weekend and that bed would be free for another waiting patient. I’ve been guilty of this ward round business. Perhaps we should have a dedicated discharge letter doctor somedays. It would be a rubbish shift but have an amazing impact in many ways.

With regards to our skydive. Minty’s hospital stay has lead to a few changes. She’s going to be discharged a few days before and will need one parent at home with her. Doesn’t feel right leaving her. So I am jumping with the skydive team and my husband will jump 2 weeks later. Her hospital stay has made me EVEN MORE DETERMINED. This is a lousy illness, it is unacceptable. We must must must find a cure or support people and their families with cystic fibrosis. If you have a pound or two to spare, please donate to our Magical Minty Skydive Team – we’ve raised over £4400 so far. AMAZING and thank you soo much for every single penny. If you haven’t seen our fundraising video – have a peek!

More soon… By the way. I had thought about not posting as I don’t want to be constantly bombarding people with woe is us news. But lots of people have been asking.

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Waiting for her IVs – Day 3

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After her GA. Washed out

First Hospital Admission

Sudden turn of events. Life has now been refocused on what’s important. Minty has been fighting off a nasty cold for weeks. She became quite unwell yesterday afternoon, worse this morning. I took her to the children’s hospital today, by the sound of her breathing I knew this wasn’t like her usual infections. So tomorrow she goes in for a general anaesthetic, bronchoscopy and long line (central or picc) for 2 weeks IV antibiotics. It’s the day we’ve been trying to avoid. She’s at home now running around like mad after prednisolone and salbutamol. You’d never know she was unwell!

Going to be staying in with her. We are allowed out for home visits etc. Lovely Minty, always smiling.

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Cystic Fibrosis is… Our fundraising video for @cftrust! Please share! @cfaware

This fundraising business is huge fun. Humbling, overwhelming and building great bonds with community, friends and family. If you can’t donate please share our video. Huge thanks to our team member and producer Rachel Cowie. Huge thanks to everyone who participated so far.

Donations welcome – http://www.justgiving.com/mintyskydive Thank You!

Meet the Magical Minty Skydive Team – Fundraising for CF Trust

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On June 8th, my husband and I, plus four amazing friends are going to jump from a plane travelling at 120mph to the ground. We hope to raise thousands for CF Trust in the process. Are we adrenaline junkies looking for our next fix? Absolutely not. Each and every one of us is terrified of heights and has put the actual practicalities of it to the back of our mind. I do sincerely hope that we do not land SPLAT onto the ground.

The fundraising so far has been great fun. We’ve bonded as a team and are coming up with new ideas to raise funds. Tonight Clifton Therapy Centre, relaunching as Victoria Rose Salon, in Bristol is holding a raffle in aid of our cause. In a week or so our local community is holding an auction of goodies and personal time to support our cause. Every donation that comes through fills me with absolute awe and gratitude.  From £1 to £200 I am touched by the amazing generosity of people, people give who you never imagine, friends of friends, long lost friends and family members. Other fundraisers even donate their own money. It is an amazing thing fundraising. If you’ve never given to anything before or raised money, I highly recommend it. You see the best of the human spirit and restore faith in humanity.

We are at £2600 or so so far. A huge amount of money. We’re still driven to get thousands more if we can. To follow our journey like our Facebook page. Or you can donate here!

Cystic Fibrosis is a dreadful condition.

Every week 5 babies will be detected via newborn screening in the UK. It affects about 1:2500 births. The week Minty was diagnosed, a mutual friend’s child was diagnosed one week earlier. He lives 1 mile away. Since her diagnosis another friend’s niece was diagnosed. 1:25 of Caucasians carry the defective gene – that’s around 2 million people in the UK. When two people with the defective gene have a child, that child has a one in 25% chance of having CF, 50% chance of being a carrier. Anyone related by blood to myself and Paul has a chance they are a carrier and may choose to get tested. So far, several of my cousins and family members are coming back as carriers. If you have two copies of the defective gene (of which there are thousands of types) you will have CF.

“Cystic fibrosis is one of the UK’s most common life-threatening inherited diseases. Cystic fibrosis is caused by a single defective gene. As a result, the internal organs, especially the lungs and digestive system, become clogged with thick sticky mucus resulting in chronic infections and inflammation in the lungs and difficulty digesting food. – See more at:http://www.cysticfibrosis.org.uk/about-cf/frequently-asked-questions#na

Meet our amazing team of skydivers!!

We are four Bristol based doctors (graduates of Bristol University), one Bristol University fourth year medical student and one Bristol-based Counsellor.

Sethina Watson

I’m Minty’s mum and a delta F508 carrier. I’m not stopping fundraising until Minty can have a normal life. Every day I wake up and check the news to see if there are any treatments for her CF genetic mix. Not yet, but one day there will and it will because people like you gave a few pounds to help. It does make a difference. Please give! Thank you!

Paul Watson

I’m Minty’s dad. Minty is a cheeky ray of sunshine. Her favourite things (apart from Mummy) are “playing music” and dancing. Every day she has to put up with many syringes of medicines to keep her healthy, enzymes to swallow with every meal or snack and physiotherapy. She does it with a smile and a giggle. But despite all this, she has had multiple infections in her short life so far, and her future health is uncertain. The CF Trust funds research that is developing medicines to help many people with CF. There is no specific medicine for Minty’s genotype yet, but with more research and develplment this can change. That’s why I’m fundraising for the CF Trust. Please support our jump for Minty! Thank you.

Rachel Cowie

For a long time I have been aware of the medical issues that people suffering with cystic fibrosis have to deal with. Meeting Minty and seeing exactly how the disease impacts upon her life and the lives of her family has however been more eye-opening and inspirational that I’d ever thought. There is currently ongoing research into the development of medications and medical techniques which aim to prolong life expectancy and improve the life quality of cystic fibrosis sufferers. The potential of these new interventions is huge. Real advancements in the treatment of cystic fibrosis are possible and in a time frame that would significantly help Minty and other children of her age. Such advancements could increase her life expectancy by 20-30 years and enable her to lead a much more normal life. The Cystic Fibrosis Trust helps raise money to fund this research and offer much needed support to affected families.

Like most sensible people, the thought of jumping out of a plane (or rather being pushed out by the instructor) is pretty terrifying. Doing a skydive is something that I have always very much wanted to do however have never found the courage to actually go through with. This is an opportunity for me to do something challenging in support of a charity that can and does make a huge difference to those affected by cystic fibrosis. We are hoping to increase awareness of the charity and hopefully raise a good sum of money to help them continue their work.

Any amount of money that you can give to help us achieve this goal and support Minty would be extremely helpful and very much appreciated.

Laura Saunders

I have long been an admirer of Sethina’s drive and tenacity to tackle any challenge head on and now I have the opportunity to do something to help too. And what a challenge we have to take on… As you have read above cystic fibrosis is a disease that shortens the life of too many. But curative treatments are a only short reality away. All we need to do is help provide the funds so research can continue and achieve this amazing goal.

So please sponsor me to hurl myself out of a plane from 21,000ft.  It’s a terrifying thought and not even having a strapping skydive instructor strapped to my back makes it sound any better! Whatever you can give will make a huge difference in the future of all CF sufferers and in particular Minty and her amazing family x

Stafford Wilson

I’ve been a very good friend of Minty’s dad since we were in University together in the early 90’s. When I heard the news that his new baby daughter had cystic fibrosis I was very concerned for everyone. I cannot imagine the emotions and stresses that Paul and Sethina have been through in Minty’s first year, but when I visited the other day I had a great time playing with Minty and whatever struggles they have gone through, I think Minty is testament to what an amazing job they are doing.

Doing this Skydive is a way for me to kill several birds (hopefully not literally!); to give my support to the family and to the research that could make such a massive difference to Minty’s life, to realise a dream I’ve had for years of doing something like this, and to lose a little weight to get fit for it. I’m also really glad that I’m doing this with Paul – as we have been through a fair few scrapes/adventures together!

So please sponsor me/us and make the difference when we’re jumping out of a plane at 10,000 feet!

Vicky Pyne

As a medic, I understand the clinical side of Cystic Fibrosis and have spent time with patients with the condition. I can see how research has already made a huge improvements in healthcare for those with the condition but I also see how much further we have to go.

As a mummy, I can’t imagine how I’d deal with the news of a diagnosis of life-limiting condition such as CF in my own children. I see how much daily effort (over and above all the things that you do as a parent anyway) Sethina and Paul make with Minty to give her the best possible chance at a normal life.

As a mummy-medic, Sethina has been an inspiration to me for quite a while – she was very important to me in helping me make one of the best decisions of my life to retrain as a doctor. I’m doing this for her, for her gorgeous daughter and for all the other people for whom more money into research via the CF Trust can make an enormous and positive difference to their lives.

I’m not normally scared by much at all but the idea of a skydive genuinely terrifies me – I am seriously only doing this to raise a big wodge of money – let’s make this happen!

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Our jump date is set for June 8th 2014 in sunny Swindon.

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.

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