Family's brave battle with rare condition
THEY are a typical, loving, caring and friendly family, but a rare hereditary condition threatens three of the Drings' lives.
Mum Wendy, has had a potentially fatal brain condition called familiar cavernoma all her life. She was only diagnosed in 2003, after doctors realised it was what her son Andrew was suffering with.
Ten-year-old Andrew is the family's source of strength according to mum Wendy. He, along with his mum and brother Daniel (six), have a condition called familiar cavernoma syndrome.
It is caused by a mutation in the gene responsible for making the blood vessels around the brain.
In people without the condition, blood vessels form in a straight line. But for Wendy, Andrew and Daniel, who live in Willoughby near Alford they have a haphazard way of growing and create clusters, nicknamed "raspberries".
Wendy (36) explained: "The blood has to go into each individual pocket and work twice as hard, to get where it needs to be.
"What can happen is it can cause a backlog of blood, and that pressure can cause the raspberries to burst.
"You can get mild symptoms like headaches, or severe symptoms like seizures and strokes. If the whole of the raspberries go, it can be fatal."
There is currently no cure or even medication for the condition. If the raspberries are in dangerous places, and can be accessed safely, they can be removed by surgery. They can also be attacked using radiation, but this can take up to two years to work.
Wendy said: "Andrew has a shorter life span because he has so many. He has already had two large clusters removed.
"They can't put any sort of time-frame on anything. It could be another five years before he has another serious bout of it, or it could be another five minutes, the condition is that unpredictable."
Andrew was diagnosed with the condition when he was six years old. And the rest of the family were then tested to see if they too had familiar cavernoma syndrome. Wendy did and so did Daniel. Father Gary (43) and daughter Megan (eight) are free from the condition.
Wendy explained: "Andrew was taken to hospital when he was about 18 months old. He had a seizure. They did a basic CT scan and found that he had a shadow on his brain. He was referred to the Queen's Medical Centre in Nottingham, and they did an MRI scan, and it revealed he had this mass on the side of his brain. They didn't like the look of it, because they didn't know what it was. They decided the best option would be to remove it.
"At that stage, they still didn't know what it was. After the surgery, he was then put under the care of the neurologist and the paediatrician at Boston Pilgrim Hospital.
"They decided to do follow up MRI scans and they found he had more of those little things growing around his brain.
"They said "we need to find out exactly what they are and why they are there". They came up with a list of options, which were then sent off to the geneticist so we could work our way through the possibilities."
It was 2006 when the family were told the startling news.
Wendy said: "Our GP said it is like going through the grieving process, except that everybody is still there. It is something that you can't really get your head around, because you can't see it or monitor it. You can't watch for any changes. It is the fear of the unknown. When the kids are at school and the phone rings you think "this is the call."
Anyone with familiar cavernoma syndrome has a 50 per cent chance of passing it on to a child.
Wendy said: "If Andrew gets married and has children, his children carry the same chances, so it is perhaps up to Andrew what he does.
"Daniel, bless him, is less understanding than Andrew, but he is going to have to be brought up with that knowledge as well. Hopefully medicine will move on in greater leaps and bounds, and some cure or treatment might be found.
"Andrew has a very wise head on his shoulders. He basically keeps us together.
"Daniel is too young to understand. They both call them their "knots".
"Andrew is our little rock. There has been many a time when he has come home, and we have had to tell him he has to go for more surgery.
"He has just stood there and said as calm as you like, "it is absolutely fine. I was fine last time. I will be fine this time. We know what they are going to do. We know where we are going.
"Where does he get his strength from? He is so grounded and grown up for his age. He just keeps us going. He is a little star."









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