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Life Transformed For Five-year-old... All Thanks To Wonder Cystic Fibrosis Drug

A five year-old with cystic fibrosis is finally "living his childhood" as his health soars … thanks to a wonder drug the Daily Express helped fight for.

Last year anxious mum Chloe Browne, 30, was pleading for Kaftrio to help her sickly son Jesse, who was constantly in and out of hospital with chest infections caused by his CF as sticky mucus clogged up his lungs.

Two months ago Jesse, of Ingatestone, Essex, finally got the drug and within 24 hours suddenly stopped coughing while amazed parents Chloe and Ben Browne, 35, saw his appetite grow.

Now Chloe's told us how Kaftrio's transformed his once ailing health - even miraculously reversing years of damage to his pancreas so he no longer needs to take enzyme tablets with every meal to digest his food.

Proud Jesse Browne with dad Ben after 2024 London Marathon (Image: handout)

Thrilled mum-of-two Chloe explained: "They call Kaftrio a miracle drug and it really is that for Jesse. We cannot believe the boy he has transformed into, in just nine weeks!

"He no longer seems to be constantly in pain, or have no appetite and feel down and low - instead he is living the childhood we dreamed he would have from the day he was born."

Chloe and construction firm worker Ben were left shattered five years ago when told by Great Ormond Street Hospital (GOSH) that newborn Jesse had genetic disease cystic fibrosis (CF).

There are just around 11,000 people in the UK with CF, just 100,000 in the whole world, and a decade ago there were no treatments to alleviate symptoms invented with many sufferers not living beyond the age of 30

US pharmaceutical firm Vertex has since developed a range of CF drugs - with Kaftrio their most effective - and in 2020 the Daily Express helped the fight to get all the treatments on the NHS.

Jesse Browne rides his scooter to keep fit (Image: handout)

Until last November Kaftrio was only available to NHS patients aged six and over but then it was granted a UK licence for kids aged two and over - and after waiting for some tests, Jesse finally started taking it nine weeks ago.

Yet although they are fully licensed in the UK, families are still waiting for the Vertex drugs to be given the permanent green light for long-term NHS use by The National Institute for Health and Care Excellence (NICE).

This long-awaited NICE ruling is currently on hold as the NHS and Vertex try to negotiate a pricing deal that NICE can accept makes the drugs cost-effective for taxpayers.

Meanwhile Jesse has now been able to switch to Kaftrio from Vertex gateway drug Orkambi - and already Chloe has seen a remarkable transformation in her son.

Jesse after (left) and before (right) starting on wonder drug kaftrio (Image: handout)

She told us: "You would not recognise Jesse from three months ago, he's definitely grown and is flourishing so well. 

"He used to struggle with his bowels as CF affects the digestive system and pancreas a lot and he would be in such pain -

Plus he was always coughing from all the mucus in his lungs.

"Over the years he's been in and out of GOSH with nasty lung bugs meaning he has to go on powerful, intravenous anti-biotics to beat the infection. The hospital was like a second home to him.

"But after 24 hours on Kaftrio we suddenly realised he wasn't coughing anymore. It was amazing.

"Now he has a really hearty appetite and doesn't even need to take the creon tablets that replace the enzymes his CF-affected pancreas does not produce to help digest food.

"He used to have to take creon every single time he ate anything but doctors did tests and said he doesn't need them anymore as Kaftrio and boosted his pancreas.

"He is always hungry which is great as he would struggle to eat before - this evening he had dinner and then ate three sandwiches before going to bed!"

Jesse thrilled to see himself in the Daily Express newspaper! (Image: handout)

Jesse with mum Chloe and dad Ben (Image: handout)

Last weekend dad Ben ran the London Marathon in four hours and 35 minutes to fundraise for the Cystic Fibrosis Trust charity - and on Thursday this week proud Jesse took a picture into school that he had drawn of his dad running. 

Previously to explain to the pupils in his reception class, Jesse had led a special PE lesson to show them all the different exercises he has to do each day to keep his lungs clear and fit.

Chloe added: "Jesse has always been an inspiration to us. I think he will be an even bigger one as he grows up - which he will do now thanks to Kaftrio.

"The new drug isn't a cure but it's the closest thing to a cure. It's changed our life, the dark cloud has definitely gone from above. We can just see Jesse blossoming more and more every day.

"He's now living the childhood he should have lived a long time ago... The basics of life."

* To donate to Ben's London Marathon fundraising for the CF Trust, visit - https://2024tcslondonmarathon.Enthuse.Com/pf/benjamin-browne

Living In The In-Between

I was only 3 years old at the time, so I don't remember, but my parents tell me that my pediatrician almost didn't go through with the sweat test. "There's no way she has cystic fibrosis," he told them. Other than the fact that viruses knocked me out more than other kids my age, I showed no signs of health issues. But genetic testing (performed because my mother was 44 and pregnant with my younger sister) revealed that both of my parents were carriers for CF. Luckily, my parents insisted on doing my sweat test despite the doctor's lack of concern. My salt levels were so high the results were undeniable. A few months later, my sister was born — a carrier, just like my parents.

For the first few years after my diagnosis, we proceeded as if I had typical CF — my parents performed chest PT on me every night while I watched TV, I had regular CF clinic appointments, and I avoided hot tubs and sick people. But pretty soon, it became clear that I was far from a typical CF patient (if there is such a thing). My FEV1 was always around 110%, I never coughed, and I grew at a healthy pace. By the time I entered middle school, I'd only ever had one lung infection and had never been hospitalized. At that point I'd graduated from chest PT to the vest, but because I played on my school's soccer, basketball, and tennis teams, my care team eventually agreed that I could stop respiratory therapy altogether and see what happened. My lung function has remained steady ever since.

Although my experiences of CF have been relatively mild, the disease hasn't exactly let me off the hook. The summer before ninth grade, I developed a recurring sinus infection which eventually resulted in my first sinus surgery. I've had nine other surgeries in the 12 years since. 

Around that same time, I also developed postural orthostatic tachycardia syndrome (POTS) and spent two years battling debilitating dysautonomia symptoms. A few years later, resistant strains of E. Coli and Pseudomonas colonized my sinuses, leading to IV antibiotics and hospital stays. A few years after that, I discovered I had mild pancreatic insufficiency. 

In spite of all this, in 2021, my doctors finally told me that it's likely CF won't threaten my life. That news was an enormous relief for myself and my family, but it also comes with its own set of complications. 

As someone with an atypical cystic fibrosis experience, I straddle two worlds — I'm legally disabled because of CF, but I also live much of my life just like any other healthy 20-something might. I've hiked 500 miles of the Camino de Santiago pilgrimage through France and Spain, but I've also spent a week in a hospital bed on IV antibiotics that made me vomit. I've become a certified scuba diver (with the approval of my pulmonologist), but I've also dealt with excruciating sinus pain and bouts of fatigue. 

I often feel like I have a partial membership to both the CF and healthy communities and don't fit into either. Honestly, it's hard for me to read the CF Community Blog or join the CF Facebook groups and see discussions about coughing or lung transplants or end-of-life care.

I think to myself: How can I claim cystic fibrosis if I can't relate to so much that most CFers go through? I feel guilty identifying with this disease that has treated me so much better than thousands of others born with the same genetic defect. But the reality is that, like it or not, I do have CF, and it absolutely affects my life.

I have the layer of salt on my skin and mucus the thickness of — as one surgeon told me — "peanut butter," to prove it. 

A major downside of my version of CF is the way it impacts my care. During hospitalizations, I've had nurses refuse to believe my lungs are healthy — insisting on listening to my chest every day and trying to force respiratory therapy on me — or those who tell me "Wow, you're so lucky!" as they hear my CF story while hanging my IVs. (True, but maybe not what I want to hear when I'm spending my week in a hospital bed rather than at home with my husband and my friends …)

My current pulmonologist, who has been great, suggested I get a vest at every appointment for nearly two years before she got to know me. And the one time I expressed my concern to the respiratory therapist when my FEV1 was 106% instead of my usual 110%, they responded: "Are you complaining about lung function over 100%?" Luckily, I've learned over the years how to advocate for myself in the doctor's office, but I still feel like it's a constant battle to stand up for my needs because they just don't fit the mold. 

It's also true that I live in a no-man's-land of treatment options. While I did qualify for Symdeko®, I got no benefit from it other than less salty sweat. On Trikafta® (which my insurance approved despite the fact I didn't qualify), the results were equally disappointing. I'm thrilled to see how these treatments and others have transformed the lives of other CF patients, but I'm also left wondering how much hope to hold onto for my own future with the disease. Will I ever know life without sinus surgeries, Creon®, and viruses that carry on for weeks?

For most of my adult life so far, I've stayed away from the CF community, feeling like too much of an outsider. But recently, as the disease has begun to affect my life more, I've felt a gravitational pull to talk to people who understand the frustration I feel towards my body and the determination to squeeze the most out of life during healthy periods. As someone with an atypical cystic fibrosis experience, I feel out of place when I speak to other CFers, but I also cherish the connection.

Interested in sharing your story? The CF Community Blog wants to hear from you. 

This site contains general information about cystic fibrosis, as well as personal insight from the CF community. Opinions and experiences shared by members of our community, including but not limited to people with CF and their families, belong solely to the blog post author and do not represent those of the Cystic Fibrosis Foundation, unless explicitly stated. In addition, the site is not intended as a substitute for treatment advice from a medical professional. Consult your doctor before making any changes to your treatment.

Zanny Merullo Steffgen is an adult with CF who lives with her husband in northern Colorado. She works as a full-time freelance writer focused mostly on travel and has previously lived in Italy and Cambodia. Motivated by her desire to get more involved with the CF community, Zanny has now become a CF Peer Connect mentor and is excited to attend more community programs and events. You can read her work or get in touch on her website or support the contemplative newsletter she writes with her father.  

Vertex Announces European Commission Approval For KALYDECO® To Treat Infants With Cystic Fibrosis Ages 1 Month And Older

- KALYDECO ® is the first and only medicine approved in the EU in this age group to treat the underlying cause of cystic fibrosis for specific mutations in the CFTR gene -

LONDON, April 26, 2024--(BUSINESS WIRE)--Vertex Pharmaceuticals (Nasdaq: VRTX) today announced that the European Commission has granted approval for the label expansion of KALYDECO® (ivacaftor) for the treatment of infants down to 1 month of age with cystic fibrosis (CF) who have one of the following mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: R117H, G551D, G1244E, G1349D, G178R, G551S, S1251N, S1255P, S549N or S549R.

"Today's approval is an important milestone for the cystic fibrosis community. Treating CF early in life can potentially slow the progression of the disease, which is why it is so important to start treatment from a very young age," said Carmen Bozic, M.D., Executive Vice President, Global Medicines Development and Medical Affairs, and Chief Medical Officer, Vertex.

As a result of existing access agreements in Austria, Czech Republic, Denmark, Ireland, Norway, Sweden, and The Netherlands, eligible patients will have access to the expanded indication of KALYDECO® (ivacaftor) shortly following regulatory approval by the European Commission. Vertex will continue to work with reimbursement authorities across the European Union to ensure access for all other eligible patients. In the U.K., following MHRA approval at the end of 2023, and as a result of the existing reimbursement agreement between Vertex and the National Health Service, eligible infants ages 1 month and older in the U.K. Have access to this expanded indication for KALYDECO® (ivacaftor).

About Cystic Fibrosis

Cystic fibrosis (CF) is a rare, life-shortening genetic disease affecting more than 92,000 people globally. CF is a progressive, multi-organ disease that affects the lungs, liver, pancreas, GI tract, sinuses, sweat glands and reproductive tract. CF is caused by a defective and/or missing CFTR protein resulting from certain mutations in the CFTR gene. Children must inherit two defective CFTR genes — one from each parent — to have CF, and these mutations can be identified by a genetic test. While there are many different types of CFTR mutations that can cause the disease, the vast majority of people with CF have at least one F508del mutation. CFTR mutations lead to CF by causing CFTR protein to be defective or by leading to a shortage or absence of CFTR protein at the cell surface. The defective function and/or absence of CFTR protein results in poor flow of salt and water into and out of the cells in a number of organs. In the lungs, this leads to the buildup of abnormally thick, sticky mucus, chronic lung infections and progressive lung damage that eventually leads to death for many patients. The median age of death is in the 30s, but with treatment, projected survival is improving.

Story continues

About KALYDECO® (ivacaftor)

In people with certain types of mutations in the CFTR gene, the CFTR protein at the cell surface does not function properly. Known as a CFTR potentiator, ivacaftor is an oral medicine designed to facilitate the ability of CFTR proteins to transport salt and water across the cell membrane, which helps hydrate and clear mucus from the airways. KALYDECO® (ivacaftor) was the first medicine to treat the underlying cause of cystic fibrosis in people with specific mutations in the CFTR gene.

KALYDECO® (ivacaftor) is a prescription medicine for the treatment of people with CF aged at least 1 month and weighing at least 3 kg who have one of the following mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: R117H, G551D, G1244E, G1349D, G178R, G551S, S1251N, S1255P, S549N or S549R.

For complete product information, please see the Summary of Product Characteristics that can be found on www.Ema.Europa.Eu.

About Vertex

Vertex is a global biotechnology company that invests in scientific innovation to create transformative medicines for people with serious diseases. The company has approved medicines that treat the underlying causes of multiple chronic, life-shortening genetic diseases — cystic fibrosis, sickle cell disease and transfusion-dependent beta thalassemia — and continues to advance clinical and research programs in these diseases. Vertex also has a robust clinical pipeline of investigational therapies across a range of modalities in other serious diseases where it has deep insight into causal human biology, including acute and neuropathic pain, APOL1-mediated kidney disease, autosomal dominant polycystic kidney disease, type 1 diabetes, myotonic dystrophy type 1 and alpha-1 antitrypsin deficiency.

Vertex was founded in 1989 and has its global headquarters in Boston, with international headquarters in London. Additionally, the company has research and development sites and commercial offices in North America, Europe, Australia, Latin America and the Middle East. Vertex is consistently recognized as one of the industry's top places to work, including 14 consecutive years on Science magazine's Top Employers list and one of Fortune's 100 Best Companies to Work For. For company updates and to learn more about Vertex's history of innovation, visit www.Vrtx.Com or follow us on LinkedIn, YouTube and Twitter/X.

Special Note Regarding Forward-Looking Statements

This press release contains forward-looking statements as defined in the Private Securities Litigation Reform Act of 1995, including, without limitation, statements made by Carmen Bozic, M.D., in this press release, statements regarding the eligible patient population for KALYDECO, expectations for access to KALYDECO for eligible patients, including Vertex's plans to continue to work with reimbursement authorities across the European Union to ensure access for eligible patients, and statements regarding the potential benefits of KALYDECO. While Vertex believes the forward-looking statements contained in this press release are accurate, these forward-looking statements represent the company's beliefs only as of the date of this press release and there are a number of factors that could cause actual events or results to differ materially from those indicated by such forward-looking statements. Those risks and uncertainties include risks listed under the heading "Risk Factors" in Vertex's annual report and in subsequent filings filed with the Securities and Exchange Commission and available through the company's website at www.Vrtx.Com and www.Sec.Gov. You should not place undue reliance on these statements. Vertex disclaims any obligation to update the information contained in this press release as new information becomes available.

(VRTX-GEN)

View source version on businesswire.Com: https://www.Businesswire.Com/news/home/20240417151132/en/

Contacts

Vertex Pharmaceuticals Incorporated

Investors:InvestorInfo@vrtx.Com

Media:mediainfo@vrtx.ComorInternational: +44 20 3204 5275

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