Jeans for Genes is known by most as the day when people don their denim.
But more importantly, the fundraising event run by Genetic Disorders UK, helps to provide support, resources and treatment to help those with a number of different genetic disorder charities.
Three children who will be benefitting from Jeans for Genes day are four-year-old Imogen Green, three-year-old Gideon Lowe and five-year-old Tyler Sanderson.
Imogen Green, four.
Imogen suffered with scoliosis as a baby, as well as having a heart murmur and issues feeding and gaining weight. At two years old, doctors discovered she had Mhyre syndrome, that delays the development of language and motor skills such as crawling and walking. She was the only child in the UK with it at the time.
Mum Stacey Green recalled the moment she was told about Imogen’s diagnosis.
“When they first told me everything, they went about it in the wrong way,” she said. “Imogen and I walked into the room and were completely overwhelmed.”
The genetic disorder affects many systems and functions of the body including skeletal abnormalities, heart disease, along with a wide spectrum of other disabilities.
“There are no specialists in the UK and there was no support groups,” Green said.
“So we were quite proactive and went on positive side after her diagnosis. Nigel [her husband] set up a website for the syndrome and we had contact from a lady in Virginia US, who had a child with Myhre.
“When Imogen was diagnosed she was the 34th child in the world. Currently recorded we are up to between 50-55, and over 10% have passed away.
“We’re in contact with a Doctor Starr in Nebraska, US. We regularly communicate via email seeking guidance about what to ask, or should be informing the cardiologists and doctors, ahead of any medical consultations, of which are many if you consider currently Imogen has 32 professionals engaged in her care”.
So how does it affect Imogen?
“If she’s outside on her trampoline we can hear her puffing and panting and we’ll tell her to take a break or do something calmer,” Green said, explaining the physical impact of her daughter’s syndrome.
“At the moment they don’t do a lot of PE at school because they’re only four so it’s manageable. She’s at a mainstream school but has a statement of special needs and full-time one to one care for her safety.
“At the moment she has delayed learning but it’s not significant.”
School uniform is slightly different for Imogen. During the day she has to wear a special Dynamic Movement Suit, and leg splints which she wears to school.
“She’s been wearing her suit since she was two and a half. It has special panels to support and keep her spine aligned in it that help keep her back straight,” Green explained.
“Her joints are really tight and stiff and she permanently walks on her tip toes. When she’s sitting down, because she is quite little, we have a special chair for her to sit at the dining table. She wouldn’t sit on a booster chair because she thinks that’s for babies.
“We’re having a specially designed car seat delivered with personalised fittings to provide back support and a tray for her feet so she doesn’t get pins and needles.”
Where will the funding go? “Our grant will help fund the creation of the first patient group in the world dedicated to supporting families affected by Myhre syndrome.”
Find out more about Myhre syndrome here.
Gideon Lowe, three.
Gideon has Prader-Willi Syndrome which is a complex medical condition that affects learning and emotional behaviours, as well as causing unusual medial issues. It also causes excessive eating, in Gideon’s case.
When Gideon was born he was so weak that doctors feared he may not survive.
“He was very poorly,” his mum Rae Lowe said. “He was in neonatal intensive care for about three weeks.
“Doctors originally thought his problems were due to lack of oxygen when he was being born but when he was ten days old we received a diagnosis of Prader-Willi Syndrome.”
The rare congenital syndrome is characterised by low muscle tone and motor development delays, learning difficulties with emotional and social immaturity. It often leads to temper tantrums, incomplete sexual development, and an overwhelming appetite.
Gideon is making great progress according to his mum, but one of the most challenging aspects for his family is Gideon’s appetite.
“Gideon seeks food in quite an aggressive manner,” explains Rae. “All food in the house is locked away. In the past he has stolen food from the bin and eaten that cat’s food. He is constantly on the look out for food.”
“He will look through people’s bags and pockets for food and will try and eat things like lipstick or tablets.
“Many typical toddler activities need to be avoided: we have to be very careful in soft play centres as he will steal food, and when we’re on walks he will pick up cigarette ends or empty sweet wrappers to try and eat. He gets upset if anyone in the house is eating when he isn’t.”
Because of his PWS, Gideon is at a huge risk of life-threatening, obesity-related illnesses. Lowe added: “If you ask what the hardest part about being a parent of a child with additional needs is, I’d say it’s the emotional exhaustion and the constant worry about the future.
“I worry that my older boys are young carers. They help get their brother in and out of the bath, assist with nappy changes and keep constant watch to make sure he is safe. Gideon has no sense of fear – he needs constant supervision. I worry about finances, I worry about his education. It’s a massive burden.”
Where will the funding go? “Our grant will help fund the development of training materials for teachers and staff within schools who are supporting a child with Prader-Willi syndrome.”
Find out more about Prader-Willi syndrome here.
Tyler Sanderson, five.
Tyler has albinism, a rare genetic disorder that affects the production of melanin, the pigment that gives colour to hair, eyes and skin. He has vision problems as a result of his condition, and has to wear SPF50 every day when it’s sunny, even in winter.
When Nicole Sanderson, 22, first saw her baby son Tyler after a long labour, she knew there was something different about him.
“I saw that the irises of his eyes were red,” she said. “His eyes were also extremely sensitive to light. In fact, he couldn’t open them in daylight – we had to keep the curtains around the bed closed.”
The doctor referred Tyler and his parents to an ophthalmologist and Sanderson and her partner, Richie, also 22, had some genetic tests, too.
“It turned out we both had the gene for albinism in our families, although neither of us were aware of anyone who was affected,” she said.
At six months, Tyler’s condition was confirmed.
“Tyler’s vision problems were my biggest concern but when Tyler was a baby, it was hard to know exactly what he could and couldn’t see,” Sanderson said.
“We just had to take it a day at a time and see what came up. His skin has no pigment so we were told he had to wear SPF50 in sunlight, even in the winter, if the sun was out, and a hat and sunglasses every day to protect his vision.”
Sanderson said it can affect Tyler in every day life and social situations.
“Going outside can be uncomfortable for his eyes,” she said. “He will play outside but usually not for long. When we’re out for the day, we’re mindful of sitting in the shade.
“His friends are all used to it but I do worry what will happen when he’s older, as kids can be unkind.”
Where will the funding go? “Our grant will fund a 12-month programme of activities that will encourage the children to learn new skills and increase their confidence and self-esteem.”
Find out more about Albinism syndrome here.
For more information on this years Jeans for Genes Day (Friday 23 September 2016) or to get your free fundraising pack, please visit: www.jeansforgenesday.org.