A Corby mother whose children suffer from a rare chromosome disorder which is believed to affect only four children in the world is raising awareness of the hospice that supports her family.
Five-year-old Mia Blakey-Tew and her three-year-old brother, Cory, suffer from PCH type 6 RARS2 mutation with mitochondrial epilepsy, a genetic disorder in which the brain does not form properly and signals within the brain are mixed up. The condition is so rare, experts do not know what the future holds and medical research is currently being carried out in Amsterdam.
Both children are unable to do anything for themselves and are dependent on round the clock care.
They have no mobility and need a cocktail of medications each day. Mia and Cory are non-verbal and are registered blind.
On top of this, the siblings barely sleep and Leanne and Dean have given up work to become full-time carers for their children.
“Despite their diagnosis, they are strong little mites,” said Leanne. “Cory is as cheeky as they come. He makes a lot of noise and is very smiley. Mia is also very smiley but she is so calm.”
For two years, the family has been supported by Rainbows Hospice for Children and Young People.
They are now backing the charity’s Light Up a Life appeal and are urging people in Northamptonshire to support the campaign.
The appeal invites people to celebrate the memory of a loved one by dedicating a light on the hospice Tree of Lights.
Each dedication will be acknowledged with a Christmas card and Rainbows adds the name of loved ones to its Book of Remembrance, which is on display at the hospice during the festive period.
The couple first became aware of their long journey ahead when Mia was two weeks old and she began to have seizures. Doctors initially diagnosed it as reflux colic but it wasn’t until Mia was four months old, and she suffered 10 seizures in one day, that extensive tests were carried out.
“I knew there was something wrong with Mia as her head was so small but no one seemed to know what it could be,” said Leanne.
“Mia underwent EEG tests and MRI scans and we were moved from Kettering to Oxford for more tests; everything was checked and re-checked.
“Then we were given the devastating news that Mia had a brain condition.
“She had a torrid first year and when she was one, the seizures started happening all of the time.
“We regularly spent every weekend in hospital where she was given a concoction of drugs.
“When we had Cory two years later, I just knew that he was exactly the same.
“Consultants told me he wasn’t and although I didn’t want to believe it, I knew he had the same condition.”
Cory began having seizures at 48 hours old and like his big sister, he underwent numerous tests and scans. When Cory was nine months old and Mia was three, the siblings were both finally diagnosed with PCH type 6.
Both children have regular seizures, which are usually trigged by pain or when they are tired.
Cory can sometimes have 40 episodes in an hour.
At Rainbows, which is the only hospice in the East Midlands for children and young people with life-limiting and terminal conditions, Mia and Cory get to spend time doing things they can’t normally do.
Leanne said: “They just love the hydrotherapy pool.
“They love the water and it is a massive thing for us to all be able to swim together. They never get to do that.
“We love going to Rainbows, it is amazing. It is somewhere we can go and actively be a family. It is hard for me to let go of control and the staff will stand back if you ask them to, but I know they are always there and that is lovely.
“You don’t get stared at if you are changing feeding tubes or your child is crying. You are treated completely normal.
“At Rainbows, we don’t have to do the mundane things like preparing food and medication etc. We can do nice things as a family and we are looked after. Even simple things like sitting down to have a cup of tea is great as it is something we rarely get time to do. And we get to sleep!
“Rainbows is also not just a hospice.
“It is an all over service that helps us all of the time. It is important people support the charity so they can continue to provide support to families like ours.”
Thinking of their children growing up is not something Leanne and Dean like to reflect on.
“We don’t know what the future holds and doctors can’t tell us anything,” said Leanne.
“We just get on with life as you can’t really think about it.
“We just get on with the next day and enjoy every minute we have with our children.”
There is no minimum donation for a light and all money raised will go to support the work of Rainbows and children like Mia and Cory.
For more information, visit www.rainbows.co.uk/lightupalife or contact 01509 638000.