Mother’s Day by Tracy Lynch

Little did I know that Mother’s Day, 18th March 2007, would be the start of my life, and that of my family, changing completely!

My daughter Jennifer, then aged 5, had an eye check with the local optician as we had some concerns regarding her vision. We were told that she was long sighted, nothing too major, but she also had Nystagmus, or as the Americans like to call it ‘Dancing Eyes’. It wasn’t noticeable and there was no explanation why she had it. This needed exploring and so began 3 years of tests and numerous trips to Great Ormond Street Hospital (GOSH), almost every month to try to find the root cause of the Nystagmus. During these 3 years Jennifer was also diagnosed with a neurogenic bladder (too small for her age) and Type 1 Diabetes. When we got that diagnosis our lives completely changed. It felt like we were going through a period of grief. We could no longer be spontaneous with our plans and days out. We had to plan where we were going to be for meal times and snack times and had to learn to inject our 6 year old daughter with insulin. This wasn’t something we had ever envisaged doing. There was no history of it in the family after all.

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Tracy and Jennifer

On 17th March 2010, just 3 days after Mother’s Day we received our 3rd life changing moment. My husband, Paul, Jennifer and I were taken into a room at GOSH by two of her consultants and given the news that Jennifer has a rare progressive condition called Wolfram Syndrome (WS). They couldn’t tell us anything about it as they knew nothing, they just handed us two pieces of A4 paper with a print out from a world wide support group and some information about a doctor in the UK that was researching the condition.

The first few weeks were pretty dark for us but for Jennifer’s sake and that of her two older brothers we had to keep positive. We did online research to try to find some support and anyone that knew anything about WS. We joined the worldwide support group as a starting point but felt so frustrated that there was nothing closer to home. We felt that we needed to do something, so we contacted Prof Barrett at Birmingham Children’s Hospital who was researching this condition and explained that we wanted to start a support group in the UK and would he help us by providing the correct medical information about WS. This helped us to focus and to start feeling a bit more positive as we were doing something to help the few others in the UK also affected.

Tracey and Jennifer Pony

To give you some facts about Wolfram Syndrome – it is a rare progressive, neurodegenerative genetic condition. The main features are Type 1 diabetes, Diabetes Insipidus (water diabetes affecting the bladder), Optic Atrophy (death of the optic nerve causing sight loss) and deafness. It can also cause anxiety, depression, sometimes aggression, as well as other neurological problems such as loss of gag reflex and respiratory issues. It is a life shortening condition. We know of about 100 people in total who are diagnosed with WS. There is no cure and currently no treatment but a clinical drug trial is due to start later this year. This is everyone’s candle of light, our beacon of hope!

Life is certainly not easy, especially as five years ago we had yet another change in our lives when Jennifer had to have a ‘temporary’ Tracheostomy tube inserted following a severe choking attack which required a spell of three weeks on a ventilator. Following this, I had to give up my job as a part time accounts assistant and become her full time carer. This isn’t easy as many of you full time carers, especially with teenagers will know. Apart from when she is at school I am with Jennifer  24/7. She can’t be left alone at home as her tube might need clearing and she is unable to do this herself as she is vision impaired. Since the tracheostomy  was put in Jennifer has changed, she was always a bit ‘stressy’ but she is even more so now and she never wants to go out.  Her dad does help out in the evenings and weekends when she is an absolute angel for him! With me I get the teenager from hell.  We clash so much as we are both so alike being very strong willed and stubborn. This is great in a way for Jennifer as I know that she will fight for what she wants. It just gets very wearing when you are faced with it all the time.

In the times when I get lovely Jennifer it is wonderful! She has a very dry sense of humour, she is very arty and is producing some lovely pieces which we are very proud of and tell her so. This of course helps boost her confidence. She loves playing jokes on her dad and keeping fun secrets from us. These are the times that I as her mum treasure. These are the times that life seems normal. We don’t see her as a girl that wears glasses, requires a white cane, has to have her blood glucose checked and injections 4 times a day and has a piece of white plastic sticking out of her neck but as our special daughter. We try to keep life happy and positive for her and her brothers. There is no point in worrying about what is going to happen 2 years, 5 years down the line. We just need to focus on the here and now. I don’t always have the daughter that I love facing me every day but I know that deep down inside she is there trying to get out but for this condition.

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Jennifer and her family

Would I have my life any other way? I don’t know. It might not be as frenetic but would I be as happy as I am. Mother’s Day this year will be spent flying back from a meeting in Italy where I am giving a presentation about being the mother of a child with WS and then hopefully being taken out for a slightly late lunch, once I land, and to be given a card that I know Jennifer has secretly made for me. If only she could learn to whisper quietly.

Lunch Jennifer & Tracy

This year Jeans for Genes are giving a grant to Wolfram Syndrome UK so that the charity can continue to pay their one member of staff who offers support and guidance to affected families in the UK.

Sign up for your free fundraising pack for Jeans for Genes Day on Friday 22nd September and help to support more children like Jennifer.

Rare Disease Day

Today marks Rare Disease Day, a global event to raise awareness of rare diseases and their impact amongst members of the public, healthcare professionals, researchers and policy makers.

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Approximately 80% of rare diseases have a genetic cause with 50% of rare diseases affecting children.

Just as rare genetic conditions are complicated, rare diseases are extremely difficult to diagnose. There are over 6,000 rare diseases and symptoms not only vary from disease to disease but also from patient to patient. Unfortunately, this causes misdiagnosis which can potentially delay a patient’s treatment adding to the challenges faced by the patient and their loved ones.

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Riley has the rare genetic condition Dravet syndrome

The team at Jeans for Genes Day witness first-hand the difficulties children and their families face when living with a rare genetic condition. Riley was just six months old when he had his first seizure. His parents took him to hospital and were told that he was having a febrile seizure, something that is quite common in infants and was later discharged. Over the course of the next three years, Riley had countless seizures and spent his first three Christmases on a children’s ward in hospital. It wasn’t until Riley was 3 and a half that he was eventually diagnosed with Dravet Syndrome. Dravet Syndrome is a rare genetic condition which occurs in 1:20,000 to 1:40,000 births, it is believed that the genetic fault causes abnormal functioning of the sodium ion channels in the brain which is what causes the seizures. Over time, repeated seizures can have a massive impact on children like Riley and can cause regression in their development and learnt skills.

Rare diseases and rare genetic conditions can make children and families feel extremely isolated, parents are often faced with limited information and find that medical professionals have very little knowledge of their child’s condition. Funds raised on Jeans for Genes Day allows us to provide grants to organisations to help bring affected families together and create vital information and support networks. Last year Dravet Syndrome UK received a Jeans for Genes Day grant which funded the development of a new website which provides advice and information for families and medical professionals.

Since Jeans for Genes Day began in 1995, our supporters have raised over £40million which has funded vital support and care systems for children and families affected by rare genetic conditions. Whilst we strive to help more children each year, we know that there are many more projects that need funding and with your help we can achieve this. By signing up for your free fundraising pack and wearing your jeans on Friday 22nd September, we can transform the lives of more children living with a life-altering genetic condition.

Sign up today. Wear Jeans, Change Lives.

Jeans for Genes Day is back!

The original and best dress down day is back and this year will take place on Friday 22nd September. By donning your denim you will help to transform the lives of over 500,000 children who are living with a genetic condition in the UK today.

Individually, genetic disorders are rare but together they affect 1 in 25 children born in the UK. Their associated health problems mean that genetic disorders are the biggest cause of death in children aged 14 and under. The money raised on Jeans for Genes Day changes the lives of these children by funding support, including specialist equipment, respite care and family weekend workshops.

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By wearing jeans and donating on Friday 22nd September you will enable us to care for more children than ever before. Visit our website today and sign up for your free fundraising pack filled with everything you need to make Jeans for Genes Day 2017 a huge success!

Wear jeans, change lives.

The real difference your money makes: introducing Imogen

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Superstar Imogen is helping to raise awareness of the importance of Jeans for Genes Day

It was at Stacey’s 20 week scan when doctors said her unborn child could be born with a twisted spine. Stacey was referred to Oxford Children’s Hospital where further scans were carried out at 26 and 28 weeks but doctors said they couldn’t see any further abnormalities.

When Imogen was born, her spine wasn’t checked and it wasn’t until many months later when an X-ray was taken it was revealed that she did have a twisted spine. Stacey also noticed that Imogen wasn’t growing like other children her age and was having problems with feeding. Tests also revealed that Imogen had Scoliosis and a heart murmur. The family were referred to Oxford for genetic testing and Imogen, who was then 2 and a half, was diagnosed with Myhre syndrome.

Myhre syndrome is an incredibly rare genetic condition, so rare that when Imogen was diagnosed she was the only child in the UK who had this condition and only the 34th in the world. There are currently only 50-55 recorded cases globally and heartbreakingly over 10% of these children have already passed away. The condition affects many systems and functions of a child’s body including skeletal abnormalities, heart disease, developmental delays in language and motor skills along with a wide spectrum of other disabilities.

One of the symptoms of Myhre syndrome is the restriction of the heart’s functions. Imogen, now 5, does experience heart problems which means she tires more easily than her friends, normal activities such as playing on the trampoline can be very tiring for her. Despite this, Imogen is very determined and is already attending a mainstream school which she loves and has a great group of friends who enjoy looking after her. As a result of Myhre syndrome, Imogen experiences delayed learning but at the moment it isn’t causing significant problems for her.

During the day Imogen has to wear a special Dynamic Movement Suit and leg splints, the suit has been designed to ensure her spine is kept supported and aligned.  Imogen also has to wear glasses and hearing aids, which she has now re-named as her Hearrings! Imogen is a very girly girl and loves dressing up and Disney Princesses! She also loves being outside, playing in the park or feeding the ducks with her family.

This year Myhre Syndrome UK is a Jeans for Genes Day grant charity. They will receive a grant raised by you overdoing it in denim on Jeans for Genes Day and will be used to set up the first UK patient group dedicated to supporting families and children affected by Myhre syndrome.

Thank you so much to everyone who have paid their donations in. If you are yet to do so, please visit our website for more information on how you can donate. It has never been more important to help children like Imogen so please donate and help us to continue to provide these charities the vital grants they so desperately need. Thank you.

If you haven’t had a chance to hold a Jeans for Genes Day, don’t panic! There is still plenty of time, please visit our website to download our fundraising pack.

 

How your money helps: meet Paige

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Paige is helping to raise awareness of Jeans for Genes Day by sharing her story

Dravet Syndrome is a very rare genetic disorder which occurs in 1:20,000 to 1:40,000 births. It is the result of a fault in just one gene. It is believed that the genetic fault leads to abnormal functioning of the sodium ion channels in the brain which causes the seizures. Children affected by Dravet Syndrome experience behavioural and developmental delays, difficulties with speech and balance and experience chronic sleep disturbance.

Paige who is now three, was seven months old when she had her first seizure. This was the beginning of many more that would follow in the coming months and years. Eight weeks on from her first seizure, Paige experienced a seizure so severe that it lasted two hours and she had to be intubated to allow her to breath. It was at this point that Paige was diagnosed with Epilepsy and mum Samantha decided to give up her job as a bar manager to focus on looking after Paige.

It was an incredibly difficult time for Paige’s family, they would spend a week in hospital and then have three to four weeks at home before Paige was readmitted. The seizures were so bad, Paige would stop breathing which meant her family were scared to take her anywhere, even the slightest temperature change could trigger a seizure making the simplest of activities from having a bath to washing her hands impossible.

Paige’s diagnosis eventually came when she was a year old and it came as a huge shock and blow for her family. Paige requires 24 hour monitoring by people who are trained to look after her medical needs, because of this her parents haven’t been out together on their own since she was seven months old.

Now, nearly three years on, Paige goes to pre-school for five hours a week where she loves playing with her friends, singing, playing on the iPad and is a huge Peppa Pig and Frozen fan! Thanks to the tenacity of her family, her pre-school now have their own resuscitation equipment as Paige’s seizures can occur out of the blue and without warning.

Paige is also extremely close to her four year old sister Evie-Mae who is now an integral part of Paige’s care, fetching things for mum, Samantha when needed.

The family have been heavily supported by Dravet Syndrome UK who this year are a Jeans for Genes benefitting charity. Our grant raised by you on Jeans for Genes Day will help fund the development of a new website which will provide advice and act as a point of reference for families and medical professionals at any time day or night. The website will provide an incredible support system for children like Paige and their families.

On behalf of all of the children and their families that we are able to support thanks to your kind generosity, we would like to say the biggest thank you to everyone who took part in Jeans for Genes Day 2016!

If you haven’t already paid your donation in, please visit our website to find out all of the ways you can donate!

P.S. If you haven’t had a chance to hold a Jeans for Genes Day yet, there is still time to sign-up for your free fundraising pack and overdo it in denim!

Jeans for Genes Day 2016

This year we celebrated twenty one years of Jeans for Genes Day on Friday 23rd September! Thousands of our incredible supporters donned their denim and supported children who are living with a genetic disorder across the UK.

The theme for this year’s Jeans for Genes Day was Overdo it in Denim, double, triple, quadruple – we wanted to see the nation don their denim from head to toe! The nation truly overdid it in denim and helped to raise funds to provide the vital care and support services that children affected by genetic disorders and their families so urgently need.

We have been overwhelmed by the incredible photos posted online of you overdoing it in denim and to celebrate, here are just a few of you donning your denim on Jeans for Genes Day.

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Staff at Gap on Bond Street, London overdoing it in denim!

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Staff from Deep South Media, Bournemouth put their best feet forward!

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Design agency OPX, London and spaniel Lola overdo it in denim for Jeans for Genes Day!

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A sea of denim at the Hyper Recruitment Solutions Ltd offices in Essex

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Strong selfie from the team at Humphries Kirk in Poole

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Pupils from Yarrells School, Dorset

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Pupils from The Oaks Primary School in Bolton proudly wearing their jeans!

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Sixth form students at Huish Episcopi Academy, Langport

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Media make-up students from Bath College!

This year some of the money raised on Jeans for Genes Day will be going to Cure & Action for Tay-Sachs Foundation. Tay-Sachs is a genetic condition which causes irreparable damage to a child’s nervous system. Sadly, children with Tay-Sachs will have progressive deterioration of their mental and physical ability and will require 24 hour care.

A Jeans for Genes Day grant will fund the creation of an illustrated children’s book for the siblings of affected children to explain their brother or sister’s condition and why they will live much shorter life.

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Stanley Murphy who has Tay-Sachs

On behalf of all of the children and their families that we are able to support thanks to your kind generosity, we would like to say the biggest thank you to everyone who took part in Jeans for Genes Day 2016!

If you haven’t already paid your donation in, please visit our website to find out all of the ways you can donate!

P.S. If you haven’t had a chance to hold a Jeans for Genes Day yet, there is still time to sign-up for your free fundraising pack and overdo it in denim!

Made in Chelsea star Louise Thompson tells us why she supports Jeans for Genes Day!

During a photo shoot with the gorgeous Made in Chelsea star Louise Thompson, we managed to sit down and find out why Louise will be donning her denim this Friday!

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Why do you support Jeans for Genes Day 2016? 

I have been supporting Jeans for Genes Day for about 4 years and I love being  part of the campaign. I create jeans so the partnership works really well. It is an amazing and inspiring charity.

What talent did you inherit from your parents?

My athleticism and fast metabolism!

Do you ever double denim?

Yes, I love denim and was wearing double denim for filming!

Would you ever quadruple denim?

I haven’t ever quadrupled denim but for this shoot let’s go way overboard and overdo it in denim! I do actually own a denim bikini which is a strong look, bring on summer!

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How many pairs of jeans do you own?

Too many to know the number, at a guess between 60 and 70!

What is the most you have ever spent on a pair of jeans?

I would never spend a lot on a pair of jeans! 

If you could design a pair of jeans who would you most want to see wearing them?

Kate Moss – who else!

Who is your ultimate denim poster boy or girl?

Lucky Blue.

What is your message to all the schools and organisations that take part in Jeans for Genes Day? 

Get involved! Be creative and take advantage of a non-uniform day! OVERDO IT in denim!

What will you doing on Friday 23rd September?

Wearing my jeans and supporting Jeans for Genes Day!

If you were stranded on a desert island which three items would you take with you?

Denim hat, rope and a box of matches – how sensible?!

Join Louise Thompson THIS Friday and overdo it in denim! Sign up today and support children living with a genetic disorder in the UK> jeansforgenes.org