14 Jan

imageRecently a patient attended surgery for a health check as she was anticipating taking part in the London Marathon. When I asked what charity she was supporting she told me it was for the ‘Cystic Fibrosis Trust’  as her godchild ‘Kate’ suffers from this condition.
Running for Kate
I’m Ali & I’m Adam, together we are running for Cystic Fibrosis Trust because we love Kate & we want to raise lots of cash! 🙂

I like to use these occasions with the person’s permission to increase the awareness of the medical condition. I find myself reflecting on patients I have seen in the present and the past and record what thoughts come to mind. As doctors we appreciate people raising money to research these life threatening illnesses and in this particular illness we have been aware of the significant progress that has been made and we wish Ali and Adam good luck in their venture.

The Cystic Fibrosis Trust was set up in 1964 making this year it’s 50th year!

Interestingly, both Dr. Livingston and myself always give a tiny lick when we see a newborn baby for their first health check. The reason being that an early sign of Cystic Fibrosis is that an affected child’s sweat is unusually salty, which can be noticeable when you kiss your child.

We were both paediatric junior doctors in South Wales and aware that in that region Cystic Fibrosis was not
unusual. These small children were frequently admitted to hospital and at that time the majority died before they started school. They were diagnosed soon after birth and the parents had to work tirelessly to perform daily frequent postural drainage(chest physiotherapy) prepare a special diet and to accept the inevitable frequent hospital appointments and often long hospital admissions. It is not surprising that we knew these children well and not only admired these youngsters for their courage but also had great respect for the persistent hard work as well as the love and devotion these parents gave.

Cystic fibrosis (also known as CF or mucoviscidosis) is a common hereditary disease. The name cystic fibrosis refers to the characteristic scarring (fibrosis) and cyst formation within the pancreas. CF is an inherited condition that affects many body functions such as breathing, digestion and reproduction. The lifelong condition becomes more severe with age and the majority have respiratory and digestive problems.
CF is one of the most common life-shortening diseases in Europe and the USA. Difficulty breathing is the most serious symptom and results from frequent lung infections that are treated, though not cured, by antibiotics and other medications.
CF is a life-shortening inherited disease, affecting over 10,000 people in the UK. One in twenty-two people of Mediterranean descent are carriers of one gene for CF, making it the most common genetic disease in these populations. Ireland not only has the highest incidence of cystic fibrosis in the world, but also the largest proportion of families with more than one child suffering from the condition.It also has the highest rate of CF carriers in the world; 1 in 19.

CF genetics

A person carries two copies of the gene associated with Cystic Fibrosis. If one of these genes is defective then this makes the person a carrier. For a child to have the possibility of inheriting the disease, a defective CF gene must be present in both parents. A child born to two carriers of the gene will not automatically inherit Cystic Fibrosis from them but instead, each child has a 1 in 4 chance of suffering from the disease.

You can’t catch or develop cystic fibrosis, it’s something you’re born with and most cases in the UK are now diagnosed soon after birth.

Diagnosis of Cystic Fibrosis
After campaigns from the CF trust all newborn babies in the UK are tested for cystic fibrosis.
There are a number of other ways of testing for cystic fibrosis, such as the sweat test (people with cystic fibrosis have more salt in their sweat) or a genetic test, where a swab is rubbed gently on the inside of the cheek to look for the faulty gene.these tests can be carried out antenatally or for those people at high risk.

There is currently no cure for Cystic Fibrosis. The treatment available is designed to alleviate the symptoms and help to manage the condition more effectively to ensure sufferers can lead their lives in as normal a way as possible.

How is Cystic Fibrosis treated?

CF is treated with a combination of medication, physiotherapy and exercise:

Medication – The three main types of drugs used to treat CF in the lungs are Bronchodilator medicines to open up the airways; antibiotics to fight off infection; and steroids to ease inflammation. To aid digestion CF sufferers are also required to take pancreatic enzymes with every meal and snack. Some CF medicines such as Bronchodilators can be administered by inhalation using a nebuliser. A nebuliser is a device which transforms liquid medication into a fine mist for inhalation deep into the lungs using a mask or mouthpiece.

Physiotherapy – Daily physiotherapy is essential for clearing mucus from the airways and minimising infection. Initially physiotherapy is carried out in the home by a parent or carer. Once old enough to manage their own therapy, CF sufferers will carry out their own daily routine.

Exercise – Daily exercise is very important for maintaining good lung health and physical strength and is an integral part of treating and managing Cystic Fibrosis.

It was great glee that I read this week on Google news the article in The Telegraph about Nick Talbot, who at the age of 41yrs is going to be climbing Everest. This is an amazing example of true progress in a Medicine in my life-time. Life expectancy is now a minimum of 40yrs and improving year on year. With the unfailing support of Kate’s family along with medical research and major breakthroughs in medicine Kate will reach adulthood and be able to live a near normal life.


Tackling the world’s highest mountain is not to be taken lightly by anyone. So surely someone with a respiratory disease venturing into the thin Himalayan air would be a dream too far?
Not according to Nick Talbot, a director for the Royal Institute of Chartered Surveyors.
He is hoping to follow in the pioneering footsteps of Sir Edmund Hillary and Tenzing Norgay, with an eight-to-nine-week Everest climb this May.
He suffers from Cystic Fibrosis, a genetic respiratory disease that affects around 10,000 people in Britain.

To this family who by Kate’s courage and their support they have inspired Ali and Adam to run for this worthy cause. Not only are they making people aware of Cystic Fibrosis but they will be raising money to further the research to help Kate and others like her.

Ali and Adam reported on link:-
Kate is an exceptional little girl. I challenge you not to be completely smitten by her gorgeous wee face and her zest for life!!

She is also very lucky she has a fantastic twin sister, Megan. They look after each other, and it shouldn’t go unmentioned how difficult it is for Megan when her sister is unwell. Megan has been appointed chief marathon trainer for us, involving weekly pep talks and huddles!

We’ll finish this bit by saying Megan & Kate’s parents are the most courageous, loving, selfless and inspirational people. Their household is all about love and laughter.
Love &laughter

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Posted by on January 14, 2014 in Training and Advice


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