Wednesday, January 16, 2013
A FOUR-YEAR-OLD boy with an extremely rare brain condition needs to travel to America for a unique scan that will shape the rest of his life ... but it will cost his family £5,000.
Zane Smith is one of less than 100 people in the world – though experts believe it could be as low as one in 60 - who have CCM3, a very rare genetic mutation of cavernoma, a condition which can be potentially fatal.
CCM3 is the most severe type of cavernoma which causes cells in blood vessels to reproduce more than they should forming small lesions, which look like blackberries. These lesions could haemorrhage at any time, effecting Zane’s behaviour or causing Zane to have a stroke or a seizure.
One in 600 people in the UK have a brain cavernoma without symptoms. With symptoms, the number of people affected rises to approximately one in 400,000.
The youngster’s life-changing news, that he had multiple cavernomas, came around his first birthday, after scans showed he had 15 cavernomas in his brain. Last year further scans showed Zane had two more lesions with two doubling in size. Zane’s next scan is in February and will show how well Zane is progressing.
Kim Smith, 38, told The Hunts Post that although Zane is four, she still needs to keep a constant eye on him as his behaviour can change in an instant. “It’s very difficult to describe just how rare Zane’s condition is,” she said. “He is four; sometimes it’s very hard to us to see him that way. Zane needs to be watched constantly as the condition affects his balance, his body movement and his behaviour.
“I call it the Jekyll and Hyde condition: one moment he can be fine and happy, the next Zane has turned into a monster.
“On Saturday night we were at some friends being fairly active, and then he came over to me to say his head hurt and within seconds he was asleep.
“Zane can be randomly sick, have no energy at all and lay on the sofa. Next he can be alright and active and you think the worst is over. Then soon Zane could be sick again.”
His Dad, Lee Smith, of Essex Road, Huntingdon, said: “We have had to fit new doors to our home so that when Zane is in the garden we can keep watching him: we always have to watch him.
“I can’t let him play outside at the front of the house like his sister when she was his age as we have to watch him from the door because he has little sense of danger.
“We had to fit a stair gate to make sure he was aware that he needed to be conscious when he is going down the stairs.”
He added: “Last night at 11pm he was sobbing because of a pain in his leg due to his condition. Sometimes he says ‘My head hurts now, let’s go to the doctors’ - that’s heartbreaking.”
The condition also means that Zane has “moments” and goes vacant, has twitches and suffers from aches and pains in his body, caused by the cavernomas micro-haemorrhaging.
To help Zane, and his family, manage his condition, the only CCM3 clinic in the world, which only started last year, want him to travel to Chicago, have a scan and a consultation with the world’s top specialist Dr Issam Awad.
Mrs Smith said: “The importance of the scan is that we can manage Zane’s condition when things are not going well, The type of MRI scan used is not available in the UK, will show where the cavernomas are located, how many he has and where, how likely they are to haemorrhage, and what would be the side effects of the bleeds.
“It means that if Zane had a stroke, the doctors could tell which of the cavernomas had haemorrhaged fairly quickly.”
Mr Smith added: “Zane has a 50 per cent chance of a major haemorrhage before he reaches the age of 15. The doctors in Britain will have Dr. Awad’s expertise to count on and manage Zane and his treatment.”
Mr and Mrs Smith, along with their daughters Kiera, 15, and Lily 8, have raised funds for Cavernoma Alliance UK through bag packing, a skydive, a football match and an autumn ball, amongst other events but need additional help funding Zane’s crucial trip to Chicago.
The Chicago clinic is building a knowledge bank on CCM3 to help others with the condition and to develop clinical trials for which, after being scanned, Zane could be eligible.
Connie Lee, founder of the Angioma Alliance which established the clinic at the University of Chicago last year, has invited all those diagnosed with the condition around the globe for the in-depth scan.
She said: “Very little is known about CCM3 - the gene was discovered as recently as 2005 and the fact that this is an ultra-rare disorder was not clear until 2011.
“Because of this, the medical community is not familiar with management of the illness. Zane is just four-years-old but has already had a brain haemorrhage. He has at least 17 brain lesions and this number is expected to increase over time. Hence the need for Dr Awad’s expert management and experience.
“Unfortunately, at this time, there is no CCM3 expert in the UK so their travel to our US clinic is the only way in which Zane will receive truly informed care and could make an enormous difference in how his illness is managed now and in the future.”
The money raised will go toward flying Zane and his parents to Chicago, the special scan and the clinic visit. Any balance will go to the charity Cavernoma Alliance UK.
INFORMATION: To help Zane and donate, visit http://www.justgiving.com/helpzane