Jeans For Genes Day 2016: Meet Three Children Who Benefit From The Annual Campaign | HuffPost Life

Each child has a rare genetic condition.

By

Life editor at HuffPost UK

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.

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Imogen Green.

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.

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Gideon with brothers Henry (8) and Zachary (5).

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.

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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.

21 Rare Diseases

Stiff Person Syndrome(01 of20)

People who suffer from this acquired neurological disorder experience repeated, often painful, muscle spasms as well as muscular rigidity and stiffness. According to the National Organization of Rare Diseases, spasms can occur at random or they can be caused by something as seemingly benign as light physical contact or an unexpected noise. The cause of Stiff Person Syndrome isn't yet known, but symptoms can be stabilized with medication. Left untreated, however, a person can lose the ability to walk.

Gigantism(02 of20)

This disease, which according to the NIH is most often caused by a begnin tumor in the pituitary gland, results in an excess of GH, or growth hormone. This causes sufferers to grow abnormally large, not just in terms of height, weight but also organ size. It results in complications like delayed puberty, increased sweating, and secretion of breast milk.

Pica(03 of20)

Characterized as an eating disorder, Pica causes people to eat what the National Organization for Rare Disorders describes as "non-nutritive" things. That umbrella term can include (but isn't limited to) dirt, clay, paper, and paint. Interestingly, it's not unusual for young kids to experience transient pica as a kind of phase, and pregnant women are also known to develop temporary pica cravings. The cause? Unknown. But in order to be diagnosed with full-blown Pica, a person's symptoms must last for more than a month.

Maple Syrup Urine Disease(04 of20)

MSUD, which is passed down through families, is a life-threatening metabolic disorder passed down through families that stems from the body's inability to process certain amino acids, leading to a build-up of them in the body. According to the NIH, symptoms usually surface in early infancy and can include vomiting, lack of energy, seizures, and developmental delays. MSUD takes its name from another symptom -- the urine in affected infants smells like caramel or maple syrup.

Situs Inversus(05 of20)

Situs Inversus is a congential condition in which internal organs of stomach and chest lie in mirror image of their normal body position -- something many sufferers aren't aware of until they seek medical help for an unrelated problem. People with Situs Inversus typically wear some form of identification to help doctors in the case of a medical emergency.

Trigger Thumb(06 of20)

Trigger thumb, or trigger finger as it's sometimes known, causes a person's finger or thumb to get caught in a locked position. According to the Mayo Clinic, it can then stay stuck or straighten with a painful "snap." The cause? It depends. Trigger Thumb is the result of a narrowing of the sheath around the tendon in the problem figure, but that can be caused by a lot of things, including any activity that requires people to grip things frequently. Trigger Thumb is also more frequent in women.

Scurvy(07 of20)

Once the disease of sailors and pirates, scurvy does still exist in the United States, though predominantly in older, malnourished adults. It usually stems from a Vitamin C deficiency, which can result in gum disease, skin leisons, and swelling of the joints. (credit:Getty )

Wilson's Disease(08 of20)

This progressive genetic disorder causes sufferers to store excess copper in tissues, including the brain and liver. Though the Mayo Clinic says that the body depends on copper in order to use iron and sugar, too much of it in the body can have real consequences. Which is why sufferers of Wilson's Disease are prone to liver failure.

Foreign Accent Syndrome(09 of20)

According to researchers at the University of Texas at Dallas, this speech disorder causes people to experience a sudden shift in their accents and though it is known to be caused by things like brain trauma, conversion disorder, or multiple sclerosis, an exact reason behind the syndrome is unknown. Sufferers of FAS dramatically shift their speech in terms of timing and intonation, which often causes them to sound foreign, but they remain totally comprehensible. Documented accent shifts include from American English to British and from British to French.

Carcinoid Syndrome(10 of20)

According to the National Organization of Rare Diseases, about 10 percent of people with carcinoid tumors -- which the Mayo Clinic says are slow growing tumors that produce excess serotonin and usually appear in the gastrointestinal tract or lungs -- get this syndrome. It occurs only in patients whose tumors have metastasized to the liver. The symptoms? Wheezing, hotness, and extreme facial blushing.

Cyclic Vomiting Syndrome(11 of20)

Children and adults afflicted with CVS experience recurrent episodes of severe vomiting, which can last for days, followed by sudden periods of no vomiting. While kids are likely to experience more frequent attacks, adults's often last longer. To date, the cause of CVS is unknown.

Peeling Skin Syndrome(12 of20)

This obscure, genetic skin disorder does exactly what its name implies: causes sufferers to experience constant shedding of their skin. (In some patients, peeling is limited to the feet and hands.) Along with that, sufferers often feel itching and redness -- symptoms that can appear from birth or develop later in life. Although the exact cause is unknown, a mutation in the TGM5 gene has been identified in many sufferers.

Platelet Storage Pool Deficiency(13 of20)

This is a blanket designation for several rare platelet abnormalities, most of which lead to mild or moderate bleeding disorders. According to the NIH, the problem stems having limited granules -- the parts of platelets that, among other things, store ADP -- the energy released when a molecular bond is broken. That reduction in storage space inhibits the platelets' ability to secrete ADP in a speedy fashion, which is thought to be what causes the bleeding. Classic symptoms of a Platelet Storage Pool Deficiency are nosebleeds, excessive bruising, and profuse bleeding in surgery.·

ACDC(14 of20)

Only nine people in the United States are known to have this disease, which was just given a name in a recent study in the New England Journal of Medicine. ACDC, or arterial calcification due to CD73 deficiency, results in calcium build-ups in the arteries below the waist of sufferers and in the joints of their hands and feet. According to the NIH, the breakthrough discovery found that the disease is related to a variant in the NT5E gene.3

Conversion Disorder(15 of20)

This condition, which typically occurs after an extremely stressful emotional event, causes a person to experience sudden blindness or paralysis that can't be otherwise explained. People with mental illlnesses are at particularly high risk and psychological treatment can help lessen the symptoms.·

Ochronosis(16 of20)

Ochronosis results in black or blue external tissues, often the ear cartilage or eye, though it can occur throughout the body. It affects people who suffer from certain metabolic disorders, but it can also be caused by exposure, though scientists aren't exactly sure to what. Not just a cosmetic issue, the affected areas can become brittle and degenerate over time.

VLCAD Deficiency(17 of20)

This condition, which is caused by genetic mutations in the so-called ACADVL gene, keeps people from converting certain fats to energy. According to the NIH, the deficiency often presents during infancy in symptoms including low blood sugar, weakness, and lethargy.

Hairy Tongue(18 of20)

As the name suggests, Hairy Tongue is a condition in which the tongue develops a black, hairy texture. According to the Mayo Clinic, the disease is "harmless" and is caused by an overgrowth of bacteria in the mouth, which can be treated with antibiotics. The NIH reports that hairy Tongue can also present as brown, yellow, or green discoloration. ·

Ochoa (Urofacial) Syndrome, or, Peculiar Facial Expression(19 of20)

This obscure, inherited disorder presents at birth and causes infants to grimace when, in fact, they are attempting to smile. The disorder also includes an extreme urinary abnormality: an obstruction that interrupts the connection between nerve signals in the spinal cord and bladder, leading to incontinence. Though treatment does exist in the form of antibiotics and bladder re-education, some patients can develop renal failure in their teens and 20's, which can be life-threatening.

Progeria(20 of20)

According to the Mayo Clinic, only around 130 cases of this devastating genetic disorder have been documented since it was discovered in 1886. Affected babies normally appear normal at birth, but within 12 months begin to have symptoms like hair loss and wrinkles. According to the Mayo Clinic, progeria is caused by a genetic mutation, but not one that's passed down through families; it's a chance event that affects only one egg or sperm. The average life expectancy for sufferers is 13.

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