New trials

Good ones this time. 

It looks likely he will be accepted onto a new clinical trial. We try and keep our hopes in check, as he has screened and then failed to be accepted onto trials before. There are a hundred different variables he needs to meet, including being well enough, but also sick enough for them to prove efficacy to pass. Sometimes this is based on his lung function, others, his microbiology. Keeping hopes in check is not one of my strong points, the curse of being an optimist. 

This current trial, if he gets on, is fundamentally different from the last two, which were both early stage gene therapy trials, looking to treat the root cause of his disease. Both were open label, meaning no placebo group. This trial, which I can’t go into details about, looks at treating a specific bacterial infection (that set up camp in his little lungs when we was just a toddler, and never left) in a new and innovative way, rather than relying only on rounds and rounds of antibiotics. Not gene therapy, but still, exciting stuff. The less positive part is that there is a control group. One third of patients get a high dose of the drug, one third a low dose, and one third, placebo). That is new to us, and something to get our heads around. Treatment will last one year, which is a long time to wonder for, and potentially see no effect at all. So we hope and hope, in layers. 

This week has been filled with vomiting, crackling lungs and problematic blood glucose levels, when what we need more than ever some stability. As always, he is calm. Me, a little less so. But hope and plans help enormously. 

We have kicked off our annual festive fundraising, culminating in the raffle that we hold at my work, which tops up my heart. I have the best friends, family and colleagues. Love, love, love x 

Cystic Fibrosis is a life limiting, genetic condition, affecting some 11,000 people in the UK alone. CF sufferers often, as a last resort, need to trade in their damaged CF lungs for the lungs of a generous stranger. To sign up to support organ transplantation, please visit https://www.organdonation.nhs.uk/ and tell your loved ones of your wishes, as even when signed up, the decision becomes theirs after your death. Thank you. 

I offer riches

 Donna Tartt

The Goldfinch, The Secret History, The Little Friend (Probably my favourite author of all time—The Goldfinch is the book you can bury me with).

Hanya Yanagihara

A Little Life, To Paradise, The People in the Trees (A Little Life tore my heart out, wrung it dry and left it in pieces. Somehow, I loved every devastating moment).  

Barbara Kingsolver

The Lacuna, Demon Copperhead, Flight Behaviour, (the new one, Partita, less so) (One of my favourite authors, though nothing else of hers has struck me quite like the first two. I read The Lacuna soon after visiting Mexico City and Frida Kahlo’s house, and fell completely in love with it. If I could, I would quote it daily. Demon Copperhead feels painfully of our time: tragic, urgent and far too real).

Khaled Hosseini

A Thousand Splendid Suns, The Kite Runner (So heartbreakingly real).

Jeffrey Eugenides

Middlesex, The Marriage Plot (I came late to Middlesex, but it was more than worth the wait—truly wonderful).

Elena Ferrante

The Neapolitan series, and everything else (An author I return to without hesitation. I love everything she writes).

Kristin Hannah

The Four Winds, The Nightingale, The Women (All incredible. A modern Steinbeck, with women’s lives and suffering at the very heart of her stories).

Sarah Winman

When God Was a Rabbit, Still Life, Tin Man (When God Was a Rabbit has a special place in my heart, love love love).

John Boyne

The Heart’s Invisible Furies, The Boy in the Striped Pyjamas, All the Broken Places, The House of Special Purpose, A Ladder to the Sky, The Absolutist (Please start with the first, brilliant). I love him, but some of his books are hard. 

Gabriel Tallent

My Absolute Darling (Incredible debut)

Delia Owens

Where the Crawdads Sing

Chimamanda Ngozi Adichie

Half of a Yellow Sun

Lauren Groff

Fates and Furies

Marlen Haushofer

The Wall (I could not put it down. A seemingly simple story of resilience and the practical business of survival, yet it stayed with me long after the final page. Still does really). 

George Orwell

Animal Farm (Of all the Orwell I read at school, this is the one that stayed with me—my first doorway into sociology, the Russian Revolution and the idea of revolution itself)

Miranda July

All Fours (Kinky, troubling, unbelievable and yet somehow not)

Sarah Waters

The Paying Guests, Tipping the Velvet…. (I’ve read a lot of her books, all good)

Kazuo Ishiguro

Never Let Me Go, The Remains of the Day

Elisa Victoria

Oldladyvoice

Miranda Cowley Heller

The Paper Palace

Helen Cullen

The Truth Must Dazzle Gradually

Lara Prescott

The Secrets We Kept

Henri Charrière

Papillon (I read it as a teenager).

Jeanine Cummins

American Dirt

Jonathan Franzen

Crossroads, Freedom, The Corrections (Complicated, infuriating and extraordinary in equal measure).

Eliza Clark

Boy Parts (Definitely not for the faint-hearted, very cool). 

Yael van der Wouden

The Safekeep

Danya Kukafka

Notes on an Execution

Hernan Diaz

Trust

Anthony Doerr

About Grace

Ann Napolitano

Hello Beautiful

Bonnie Garmus

Lessons in Chemistry

Alice Winn

In Memoriam

Michael Ondaatje

Warlight

Hervé Le Tellier

The Anomaly

Andrew Miller

The Land in Winter

James Baldwin

Giovanni’s Room

Hans Fallada

Alone in Berlin

Maggie O’Farrell

The Marriage Portrait, Hamnet

John Steinbeck

The Grapes of Wrath, East of Eden

Kelly Rimmer

The Things We Cannot Say

Tara Westover

Educated

Philip Pullman

His Dark Materials trilogy (Fantasy is rarely my territory, but the idea of a daemon companion utterly won me over)

Taylor Jenkins Reid

Daisy Jones & The Six, The Seven Husbands of Evelyn Hugo

Louis de Bernières
Captain Corelli’s Mandolin, Birds Without Wings (I think this is where my love of stories about war began)

Alex Garland
The Beach

Celeste Ng
Everything I Never Told You

Elif Shafak
The Island of Missing Trees

Anna Sewell
Black Beauty (The book that started it all: my first love as a reader)

Florence Knapp
The Names

Nickolas Butler
Shotgun Lovesongs

Charlotte McConaghy
Wild Dark Shore

Not an exhaustive book list by any means, but some that I can recall. I’ll kick myself later for missing some out. Reading keeps me going, always. 

We have a lot going on, and right now, Isaac is well. Proper update soon x 

Rare amongst rare.

The first gene therapy trial that Isaac took part in (in which he was the very first patient worldwide to receive multiple doses) has now been discontinued due to adverse reactions in patients. We couldn’t talk about the details at the time, but the latest press release can be found here. The fact that Isaac was the sentinel patient was, pretty frickin huge. 

I couldn’t stay in the room during the treatment (via nebuliser, his team were masked up carefully) and stood shaking in the corridor watching through the gaps in the blind. Lately, one of the team told me that it was just as scary for them (they are always cool as cucumbers at the time). Hearing that reassured me somehow, knowing not only how much they care for their patients, for him, but also that it was as significant to them also. This is new, groundbreaking science, and with that comes risks. 

Knowing that this drug will not be progressed further is a blow, but we go in knowing that very few phase 1/2 trials progress to the point where they are actually licensed for clinical use. The learning that is gained will benefit future developments, and every clinical trial participant has contributed to that important fact. Beyond proud of our boy. 

Furthers news that the Lenticlair trial was halted after just five patients being dosed is a stab to this wound. We had talked to the Brompton hospital, London, about joining this trial some time ago. At that time, again, he had the possibility of being the first patient dosed in the trial. Only with a trial for gene replacement rather than gene editing, the effects could be much longer lasting. At that time he opted for gene editing instead, because of the potential risks, but also that he would likely be ineligible for further gene therapy trials if he took part. Now that the trial has ceased, at least for now, we are so glad of his decision. Gene replacement in CF has been the ultimate goal to hope for since the early 2000’s, and now, what? 

CF is a rare disease, and Isaac is now in a rarer group still. Only 10% of people with CF are left ineligible for CFTR modulators which are transforming the life of so many patients for the better. It’s not a great club to be in, and with trials being pulled it can feel isolating even further. Hope is everything, and any knock to that, for me, is hard to bounce back from. 

His lung function has been on a downward trajectory all year, he finished IV antibiotics recently, and is starting new nebuliser treatments. In a week, his lung function climbed 10% which is, epic! He is on an urgent list for sinus surgery once more, and the headaches have been much worse than normal. Pain, heatwave, and a needle in your chest don’t make for the best summer, and that’s hard to watch. Really fucking hard. 

I always want to be able to tell friends and family something positive, problem is, chronic illness rarely gifts us that. So instead, here are some pictures which say a thousand words. Rosa’s birthday, hospital with my boy, dancing with the best of friends, and getting out to listen to my book in a park x

Life, loss, research hopes.

Read an article by me, here!

And a picture of family love after loss. Despite the sadness, in the celebration of life, in our togetherness, our hearts boomed. Love you all. 

More soon x 

My whole world, right there

Today’s headline: CF sucks, but CF + it’s many implications + additional chronic illness, sucks even more.  The impact of new diagnoses on our souls, new symptoms and new treatments and the myriad of overlapping effects this means further amplifies our need to live in peace with ambiguity and the need to take each day as it comes. I am trying.

It seems at to me that we live in a world where wars are waged by elected twats with less sense than the people who voted them in; where famine is ignored in favour of celebrity gossip. In this climate, simply being aware of your own privilege - warmth, safety, freedom - and wishing those things for others makes you a ‘woke lefty’. Everyday starts with a dose of anger and melancholy, just from watching the news. I feel exhausted at times, living in a world that so often has forgotten how to care. On top of that, life with chronic illness in the family, where you can only manage, never cure, it still amazes me that we find laughter in every single day. 

We have one new positive; a new clinical trial to focus on, hopefully in the next month or so. That, we so need. As ever, he is my hero, and increasingly takes the lead in every way, making our team stronger. At home, our funny, bright and beautiful girls and kooky dogs make everything seem brighter for us and nature helps ground me further. More soon x 

Doggy

Suspicious dog. Puppy dog. You know I am right dog. 

They rule my heart dogs. Two dogs. Too handsome x 

The lived story

These last weeks have been confusing, to say the least. We are grappling with new diagnoses’, confusing and overlapping symptoms, additional meds, and multiple clinical teams (between which communication is not always the best). Today I offloaded a whole bunch of worries on a CF friend. Just talking it through helped clear my muddled, cloudy thoughts. Having friends in the CF community to talk has proved vital to my balancing of emotions, thoughts and learning. It’s not all clinical, the lived story is complex, meandering and never black and white. 

Thankfully Isaac’s lungs are stable right now, following recent IVs, and he’s currently away visiting his girlfriend. Getting him well enough to live life to the fullest of full is always our top priority. Travel with chronic illness takes forward planning and preparation, but when you win, it tastes all the sweeter. 

Due to these new complications he cannot, for now, take part in the gene therapy trials we had been on track to join and had pinned our hopes on. While we wait (somewhat impatiently) I’ll continue to shout about the needs of the 10% of CF sufferers for whom the new modulator treatments will not work, who cannot be left behind.  This clip sums it up pretty well. Love love love x 

Swings, roundabouts, and plummeting slides

The CF cough is different. Hard to explain if you’ve not heard it. I would say guttural, but I just looked it up and it says harsh and from the throat. This is deeply from the chest. From every muscle and fibre of his being. Violent. Vomit inducing. Loud. Rumbling then escalating. Exhausting. 

These last weeks have been tricky. As a Mum, the stress of a CF exacerbation, plus issues with blood sugars, unknown seizures and tests, culminated in physical, mental and pretty weird ways. Minuscule in comparison to what he has to go through, but hard nonetheless - not only for me, but for those around me. I wept for an hour at a petrol station recently, unable to fill up because the hire car we had was like an escape room puzzle that I could not fathom for opening the fucking petrol flap. Dan had to drive a hour to rescue me, hug off my silly tears. This is not normal for me. Then an old Irish tune that Dan used to sing Isaac as a baby crawled in as an ear worm and I found my cheeks wet with tears before I realised it. 

CF is not only a disease of the lungs. It affects most of his organs, most notable his digestive system, kidneys, liver, pancreas and his fertility. As a child he experienced the gastric issue’s extensively (DIOS) but these have gladly lessened over time. His liver and kidneys suffer predominantly because of the aggressive antibiotic treatments that are essential for his lungs. His pancreas suffers because the enzymes which should be released via a duct to digest food are unable to, as that duct never formed in utero, blocked by mucus, and so slowly erode his pancreatic function from within. This, in turn, impacts the pancreases other job; to produce insulin. Leading to issues with blood sugars or CF diabetes. Seizures, epilepsy, the brain? That is not part of the CF package. That’s all new and confusing, and feels very unfair. 

He was not accepted onto the clinical trial, as his health is not deemed stable enough. We had, by then, assumed it was a given. The clinical trial team were all set to go, schedule ready. Disappointed doesn’t quite cover it. 

As we approach his birthday, we focus on getting him well (he started IV antibiotics today) and looking forward to easier times, and as this post describes, we enjoy the life amid the noise. Love x

Hazy lush nights with amazing friends ❤️

To think is not always to see.

We had a fantastic Christmas, all home and well. At times like that, it’s easier to shut CF into the back room and ignore it for a while. Even better, Isaac enjoyed his first solo trip (to Germany, to visit a girlfriend). This felt like no small win - CF so often scuppers plans at the worst possible time it can feel like the whole worlds shitty fate is against you. He had a brilliant time, came home loved up, and is planning his next trip back in the Spring. Despite the rampancy of flu and other viruses going around, he has escaped most of this, but his lungs are starting to protest more now. He’s also experiencing more of the confusing episodes that he had late last year. For that, we’re waiting on consultations with other teams and further test results. If I dwell on this new challenge, it’s easy to feel bitter, he already has too much to contend with - but my sunny side says we will work it out. 

I’ve said before, that while we have a pretty good idea what his lungs are like at any given time now (fruity, rumbling, wet, dry, wheezy, clearing, plugged…) we still occasionally surprised by either good lung function results when he is symptomatically much worse, or vice versa. Right now, we have the former, and so wait and hope he can avoid another course of IVs as we’re only a few weeks out from the last lot. Excitingly, he has been invited to screen for the next phase of a gene editing clinical trial, only one of four patients in the UK. I can’t say too much due to confidentiality- but suffice to say we are keen as custard. Hoping to start next month, which is another reason to hope he won’t need IVs anytime soon (he cannot start a trial within 30 days of extra treatment, that is, beyond his daily routine). 

Organ donation is something I’ve always felt strongly about, but even more so since I unwittingly joined the CF community. I have lost friends waiting on the list, and one shortly after (her body likely too weak after end stage CF to survive other complications). I’ve also known friends to be enjoying a full and healthy life many years post transplant. This can and does truly change lives, and yet despite changes to the law that were supposed to increase the number of donations, the reverse is happening https://www.organdonation.nhs.uk/get-involved/news/international-experts-advise-on-action-to-support-more-families-to-say-yes-to-organ-donation/ Please don’t only sign up, but tell your next of kin of your choice, as whatever you say now, it becomes their choice after your death x 

Lee Miller ❤️