‘Mum’... One tiny word signals an incredible medical breakthrough for this desperately sick toddler
A TWO-YEAR-OLD girl with a rare and incurable condition has been able to walk, talk and swallow for the first time after becoming one of only two patients in Britain to receive a breakthrough treatment.
Skyler McKenzie, of Tonbridge, Kent, suffers from neurofibromatosis, which causes a large number of tumours to appear throughout her body.
She was diagnosed at just four weeks old, after doctors spotted that she was struggling to eat.
Tumours in her throat were found to be blocking her vocal cords, stopping her swallowing. Elsewhere, tumours on her spine were affecting her mobility.
But since Skyler embarked on a revolutionary clinical trial five months ago, the growths have shrunk, allowing her to speak, eat and take her first steps. Skyler’s mother, Jes Beeney, last night spoke of her joy at hearing her daughter say ‘Mum’ for the first time.
‘I never thought I’d see this day,’ said Ms Beeney, 39. ‘Skyler can now walk with a frame and can eat pureed food. Two months ago, I cried with joy when she said, “Mum.”’
Skyler has neurofibromatosis type one (NF1), which affects one person in 3,000 in the UK. As well as causing tumours, NF1 can lead to learning disabilities, bone abnormalities and increased risk of cancer. The most common symptom is painless coffee-coloured patches on the skin.
The tumours stretched along Skyler’s spine, neck, throat, tongue, gums and even the optic nerves in her brain.
Operating was too dangerous because of a high risk of bleeding, as well as causing damage to nerves and blood vessels.
But a year later, Ms Beeney was told about a so-called MEK inhibitor trial taking place at Great Ormond Street Hospital in Central London, and Skyler became one of just two NF1 patients in the UK to be offered the treatment.
The drugs work by targeting proteins in the cells that make tumours grow, shrinking them and halting further growth.
An American study based on a similar treatment has revealed its remarkable success, reporting: ‘The difference we see in these patients is truly unprecedented.’
Vanessa Martin, of the Childhood Tumour Trust, said: ‘We are extremely excited about this development.’