Britain marks Jeans for Genes Day today to raise money for Genetic Disorders UK, the charity that aims to change the world for children with genetic disorders….reports Asian Lite News. Please donate through the site www.jeansforgenesday.org
The campaign is helping several families across the country. Identical twins Vanika and Vanshika were born five and a half weeks early via caesarean and much to their parents’ relief they seemed completely healthy. For the first few years their parents Amandeep and Ruchika had no concerns about their health.
‘They seemed to be reaching all their developmental milestones,’ says Dad Amandeep, 37, an IT project manager. ‘Then from the age of two we noticed a few issues. They were quite late talking. They spoke in a baby-type language and made a lot of gestures and movements to communicate. They would talk to each other in baby talk but not to us. We thought initially it was a twin communication issue.’
The sisters started at a nursery attached to a primary school at the age of three and the nursery teacher picked up that they were clumsy and had no spatial awareness. They often bumped into things. They also only had one or two words that they would use, whereas their peers spoke in sentences.
The girls saw a speech therapist and a physiotherapist, who picked up that Vanika was more unsteady than her sister. Amandeep explains: ‘We weren’t majorly worried back then, but it was clear they had a number of specific issues but no one filled in the gaps and joined the issues together. As well as the speech and balance problems, the girls had eating issues. They were very fussy, only eating very small portions. They saw a dietitian. They found it difficult to write and it was clear they were behind other children.
‘By the age of six/seven we were very worried. The lack of support meant we had to pay for a private speech therapist and physio to build up the girls’ core muscles and help with balance. The girls were very close and always had each other, but we were worried about both their development and their academic ability.’
Just before the twins’ ninth birthday their private physiotherapist suggested to the family that it could be a genetic condition, ataxia-telangiectasia, known as A-T. The girls were referred to a paediatrician and after blood tests the family received a positive diagnosis in August 2012.
A-T is a very rare, progressive, neuro-degenerative inherited disease. It is caused by a genetic mutation in the ATM gene, affecting the production of ATM protein. This causes cells in the part of the brain involved in coordinating movements (the cerebellum) to deteriorate. Both parents need to carry the faulty gene for it to be inherited and have a 25 per cent chance of passing it on to a child. Amandeep and Ruchika, who is a teacher, also have a seven-year-old son, Lucky. He is an A-T carrier but he is not affected.
Over time A-T causes severe disability and affects a variety of body systems. It can cause increasing difficulty in controlling and coordinating movements, reduces the efficiency of the immune system, increases the risk of developing cancers, causes prominent blood vessels in or around the eyes, and increases sensitivity to radiation.
The first signs of the disease usually appear when children are toddlers and start walking. Children will become unsteady whilst walking, have difficulty moving their eyes, and develop speech and swallowing problems. By the age of ten most children need to use a wheelchair. There is no cure for this genetic disorder and no way to slow the progression.
Epidemiologists estimate the frequency of A-T between 1 in 40,000 and 1 in 100,000 births (affecting both girls and boys). There may be children who die young who are never diagnosed. It is life limiting, and adults with classic A-T will usually not live past their mid-twenties due to respiratory failure or cancer.
Living with the severity of this genetic disorder was a lot for the family to take in. Amandeep says: ‘It was a difficult time for us. I’m not a very emotional person; I hide my feelings, whereas my wife was distraught. It is a life-limiting condition and we have gone from planning for the long term to just taking family life day by day.
‘For their first nine years we had worries about them but nothing like the worries we have now. There is no cure for this genetic disorder. It is so rare, affecting only about 190 people in the UK. Every parent imagines seeing their child grow up. But with A-T you have to put all those hopes and ambitions to one side. Somehow you have to get on with your life.’
Now at the age of 12 the twins’ muscle control has deteriorated. They are unable to walk, and spend 90 per cent of their time in their wheelchairs. They both have a tremor in their hands – similar to Parkinson’s sufferers – which started two years ago. They have difficulty eating, as swallowing is controlled by muscles which have weakened. As well as needing help to eat, they are at risk of choking.
They have a scribe to write for them at their mainstream secondary school, and their speech is slurred. They have a weakened immune system and are at a greater risk of cancer and leukaemia.
‘People do need to be patient with the girls,’ Amandeep says. ‘They are clever and academically they are doing fine, but they need extra support. They have occupational therapy, physiotherapy, see a dietitian and a speech and language therapist. It has been a battle to get the help they need.
‘The girls recognise their limitations and focus on what they can do. They have a very positive outlook on life. They are always happy and positive.’ The girls enjoy school and are involved in lots of activities outside of school. They like swimming, singing and music. They are big One Direction fans.
This year the charity the A-T Society will receive a grant from money raised by the public on Jeans for Genes Day to pay for a part-time family support worker to further help families whose children have been diagnosed with A-T.
Amandeep says: ‘It’s so important to have that support both practically and emotionally when your child is first diagnosed. The support worker can answer those unanswered questions about coping at that time and worries for the future. They also help practically, advising on home adaption and ongoing support for your child. It’s so important to hear you are not alone.’
Jeans for Genes Day raises money for Genetic Disorders UK, the charity that aims to change the world for children with genetic disorders. Funds raised will go to the vital care and support they need. More details at www.jeansforgenesday.org