Sunday, 26 August 2007

Somewhere There Is An Angel

Alice Martineau

Somewhere There Is An Angel

IN 2002 I read an article that changed my outlook on life. It was written by a young lady called Alice Martineau, of whom you have probably not heard. Alice was a singer-songwriter from London, who was at the time pursuing a record deal, longing to live her dream. However, she was also chasing something else. Her life.

Alice was born with cystic fibrosis, a genetic disease that at the time conferred an average life expectancy of only ten years. Despite all her hopes for the future, and her unwillingness to accept the state of her health, Alice was nonetheless on the waiting list for a new heart, liver and lungs. She carried an oxygen tank with her wherever she went, a tube pumped food into her stomach at night and she suffered from diabetes and cirrhosis of the liver.

Cystic fibrosis (CF) is caused by a mutation in a gene for a protein called Cystic Fibrosis conductance Transmembrane Regulator (CFTR), a channel that controls the pumping of charged ions in and out of cells. When chloride ions are pumped across a membrane, water follows. CFTR pumps charged ions across membranes to maintain the salt balance of the body, producing the thin mucus of the lung lining that traps invading bacteria and is coughed out.

Sufferers of CF have no regulatory channels in their cell membranes, since the processing components of each cell destroy faulty channel proteins. Salt balance is disrupted and mucus becomes thick and sticky, clogging the airways and preserving infectious bacteria at the edge of the lungs.

The digestive system also suffers, with thick secretions blocking enzyme release from the pancreas, resulting in malnutrition and associated slowed development. 70% of cystic fibrosis mutations are the result of a simple deletion of three DNA bases in the CFTR gene, but the results are catastrophic. There is no cure, but advances in medication, physical therapy and understanding have increased the average life expectancy of patients to 31 years.

Despite all of this, Alice repeatedly defied doctors, living way beyond all their best estimates and getting on with life as best she could. This was, of course, quite a difficult thing to do.

A new life

For a while she tried to become a model, taken on by Nevs agency. She had the looks, but a model’s life is an exhausting one, rushing between castings held in studios at the top of buildings without lifts. Challenging enough for the fit, it is not a sympathetic lifestyle for those who have trouble breathing.

At 19 she moved to Warwick University to read English, in search of independence and the feeling of control. Her mother, though terrified, drove Alice to halls and unpacked her baggage, which included three enormous cardboard boxes of pills destined only to last a month. It was the start of a new life, but one that would only last two weeks. The hurried walk to lectures and the joys of student life took their toll on her health, and a return to hospital was necessary.

Beaten, but not defeated, Alice enrolled with Kings College, London, working from home to achieve a First, much to her surprise. As her brother Luke put it, “Alice is a winner”, but though she affably accepted her success she did feel that she had missed out on the whole University experience by living at home. Academic success behind her, she turned her attention to singing lessons.

“Dealt a bad hand”

CF is the most common life-threatening inherited disease in the UK, affecting 7,500 people. It is subject to simple Mendelian laws of genetics, where the probabilities of inheriting the faulty CFTR gene are as follows.

Each individual has 23 pairs of chromosomes, one of each pair coming from each parent. The faulty CFTR gene, our CF culprit, is located on chromosome 7 and is carried by around 1 in 25 of the population. Symptom-free ‘carriers’ carry one faulty gene alongside a functional copy of the gene.

The disease is expressed by the unlucky few who inherit a mutated CFTR gene from both parents. If both parents are carriers this has a probability of one in four. Five babies are born each week with CF.

When Alice took up singing, the odds were again stacked up against her, yet she had a wonderful voice and a talent for writing inspiring, heartfelt songs. Her constant coughing had strengthened her voice and with breathing training she achieved marked success, attracting the attention of Robbie Williams among others. Her health repeatedly thwarted efforts to obtain a record deal, but with persistence and dedication Sony eventually gave in. Her debut album Daydreams was recorded in just 10 days and spawned two singles. Track four is Inside of You, a song written by Alice about her own death, conjuring the image of her as an angel, watching over those she loved and left behind. It is somewhat of an haunting anthem, as on Thursday March 6th, 2003, Alice’s heart ran out of summers and she lost her battle with CF. The world had lost someone truly special.

Alice despised being called ‘brave’. It was not her choice to be ill, nor to survive. In her own words, she “had been dealt with a bad hand” and was getting on with it the only way she knew. Yet her “burning desire to beat the unbeatable” throughout her life has proved truly inspirational. She played, she loved, she partied. She was just a singer who happened to be ill.

The future

The Cystic Fibrosis Trust invests £3½ million annually into gene therapy research. 90% of people with CF die with chronic lung damage, so therapies are being designed in order to insert correctly functioning genes and promoter sequences into the cells of the lungs. Single dose trials for CF gene therapy begin in London this year, with a view to reaching the market by 2013. In the meanwhile, patients must continue with their extensive treatment regime, often reaching the need for a risky transplant procedure. Research remains at the forefront of science, investigating the uses of stem cells, genetic screening and, unusually, garlic, but a cure is some distance off.

In the meanwhile, there are a few things we can do, not
least sign the donor register:

http://www.uktransplant.org.uk/

The CF Trust’s Great Strides campaign reaches Birmingham on 20 May, a 9km walk in the Botanical Gardens in Edgbaston. Details are
available on the CF Trust website:

http://www.cftrust.org.uk/

http://www.alicemartineauappeal.com/

Originally printed, in an edited form, in Redbrick Vol 71 Issue 1310 under the title "Against The Odds". My old blog also had a feature on Alice.

No comments: