Metabolic Hero Hall of Fame (S – Z)

Rosie Simmens
Daughter, bravely living with Leigh Syndrome
Submitted by Cara Simmens

“Rosie is my Metabolic Hero because she is super resilient. She was diagnosed at two years old and given a life expectancy of 11.  She is now 15, full of life and has an awesome smile.  She smiles with her eyes and even though she can’t talk she speaks volumes. Her heart is immense like an ocean and she is so brave. She gives amazing hugs, fights through her problems and recovers from numerous seizures.  She uses her limited mobility in the best way she can and never gives up!”

 

Colin Snook
Volunteer and Friend
Submitted by Lesley Greene

“Colin got to know a family locally whose daughter passed away as a result of an Inherited Metabolic Disorder. This inspired him, as a regular walker, that he would undertake to walk the coast of Britain for Climb ( WalkGB4Climb) starting in January 2008 and finishing at his home town of Bognor Regis in December 2008, where a welcoming party was led by family, friends, VIPs, friends, and Climb members. Colin raised over £30,000 but also made a huge impression raising awareness of the charity’s work wherever he went. Supported by Climb staff, Colin stayed at hostels, police stations, fire stations (he is an ex-fighter) and most importantly, was often hosted by Climb families along the way, getting to know them and those they cared for, making firm friends many of whom he is still in contact with 11 years later! Colin also wrote a book chronicling his adventures along the way after his safe return home and published it at his own expense to raise more money. We owe Colin a huge debt of gratitude for giving up a year of his life to give our children and adults more life to their years and more years to their lives.”

 

Collette Stainforth
Metabolic Nurse
Submitted by Fazilath Hafejee

“Seven years ago my daughter was diagnosed with Tyrosenemia. The time of diagnosis is a very difficult time; learning about the condition and getting to grips with living with the condition. Collette Stainforth, our Metabolic Nurse and her excellent team have helped us tremendously. Collette not only has supported my daughter but my whole family, and all of our concerns are recognised. I feel reassured because she is so calm and friendly and has helped alleviated many of my fears of raising a child with a metabolic condition. Collette is always available at the end of a phone or visits us when needed. It feels like someone is looking out for us. I don’t think we would have got through it without her. Coming to terms with my daughter’s condition, accepting it and learning to deal with her medical needs has been a long road. No matter the problem, Collette has been there for us and has empowered us to manage. I have spoken to other metabolic patients /families and it is clear she has always gone beyond the call of duty and has motivated patients to always get involved. She is a friend to both the professionals she work with as well as the patient’s family. I imagine there are hundreds of people who have been helped by her over the years and I am grateful to have been one of them.”

 

Karl Swaine
Son, bravely living with MPSII
Submitted by Howard Swaine

“Our son Karl is such a brave boy in what he goes through. He is such an inspiration to me and his mother. He is only 10 years old.”

 

 

 

Max Tattersall
Family Friend, bravely living with HCU
Submitted by Tracey Fahey

“Both Max and his brother Xander have an Inherited Metabolic Disorder called Homocystinuria (HCU).  Max also has epilepsy and attends a special school with my son. He regularly has to attend hospital appointments but always has a smile on his face.  Last year, he was in hospital and was very seriously ill.  His parents feared they would lose him, but with the help of friends and his Metabolic Doctor, he came through it. All children’s lives are precious, but when you have to measure your food for the rest of your live because if you don’t it could end your life, then Max is our Metabolic Hero.”

 

Ava Taylor
Daughter, bravely living with OTC
Submitted by Caroline Winkley

“Ava was born with OTC and had a gastrostomy at 9 months old.  She had a liver transplant when she was 5 years old.  Since then she has had to re-learn to eat food and enjoy it as well.  She is my world.  She never complains, and always has a smile on her face. She lights up any room that she enters. Her gastrostomy has only just come out now.  She struggles at school but she doesn’t let it stop her joining in and trying.”

 

 

Eden Turner
Son, bravely living with MCADD
Submitted by Laura Mckechnie

“Eden was tested positive for MCADD on his Newborn Screening heel prick test.  He has been ill on many occasions, and been so brave.  His siblings were subsequently tested and we found that his two older brothers also had condition – I feel by Eden being tested it saved his brothers.  Eden has embraced his condition, informing others about his condition, and lives a normal active life.  He is sensible and knows what to do to keep safe. I’m so proud of him, he makes me glow with pride xx”

 

Carolyn Weir
Mother
Submitted by Sam Baker, whose daughter Bea bravely lives with GA1

“My daughter Bea is obviously the most amazing person to have ever entered my world, but without the support and love from my mum I’m sure that things would be so different.  My mum puts us first over anything else and her research and support has been unbelievable.  She would sit up all night every night if it meant my daughter had better care and support.  She is so amazing and I can’t even express what she has done for us.  She thinks about my daughter all the time and puts her above anything else (the same as myself and my husband).  When we were called by Great Ormond Street Hospital about our daughter’s Inherited Metabolic Disorder I know my mum broke, not only for my her granddaughter but also for me. To feel the pain and worry, of not only myself, but also those around me was very hard and took over anything else for so long.  My mum was my rock and I would call her every day and she would answer my questions and reassure me, or if she didn’t know she wouldn’t stop until she did!!  She is amazing.  My mother thinks about everyone but herself.  She will never let her own plans intervene if you need her, she won’t even go on holiday as she worries that we may need her, or need support.  She puts us first at all times.  She is and always will be my best friend.”

 

Joanne Wilson
Wife, mother of Emelia who bravely lives with GA1
Submitted by Kris Wilson

“I’d like to nominate my wife as my Metabolic Hero. Our daughter had a metabolic crisis at six months old and was hospitalised for six months until we got our GA1 diagnosis. Throughout this time, and every day since, Joanne has put everything she has into providing the best possible standard of life for our little girl. She gets up multiple times through the night, spends countless sleepless nights alone with our daughter in hospital and generally goes out of her way to put our daughter’s happiness first.  Many people will disregard this level of dedication as normal and expected, but only those living with a GA1 or other Inherited Metabolic Disorder will understand the pressure 24/7.  Each and everyone of these “Heroes” deserve the love, support and appreciation ten times over.”

 

Ted and Kitty Wood
Son and Daughter, both bravely living with MCADD
Submitted by Susan Wood

“Ted and Kitty are brother and sister, both diagnosed with MCADD.  Ted was undiagnosed until his sister Kitty was tested on a pilot study.  They then tested Ted who was also positive for MCADD – Kitty literally saved her brother’s life.  Since they were young they have always supported each other.  They understand how the other feels and this has proved vital to their physical and emotional wellbeing.  It’s been a struggle for the whole family, especially when they are both ill at the same time.  However, their special bond has pulled us through the hard times and means that we all appreciate the good times we have even, more than most people.”

 

Christine Wylde
Friend, mother to Danielle and Georgia who bravely live with OTC
sadly lost son Rhys to OTC
Submitted by Emma Peterson

“Superheroes come in all sorts of disguises and mine is an ordinary mum of six. In her words she’s ‘Just a mum, and I like to support others after a difficult time for myself and my family’.  She has no idea how important she is to so many, and how many people she has supported and helped. Christine created a group called Urea Cycle Disorder Support UK along side her friend Karen who recently sadly lost her battle with OTC.  Christine and Karen both lost their newborn sons to OTC and found connecting online to be a lifeline for them both.  They decided to reach out to more families living and caring for those with rare Urea Cycle Disorders.  Christine also has two daughters with OTC, two without and also a son who she adopted with her husband who also has complex medical needs.  I can honestly say that without Christine’s support and our UCD group I would have been completely lost.  Having a child with a life threatening and life changing condition is absolutely terrifying and the feeling of being scared and alone is all consuming.  Our group is a place were we can talk freely, supporting one another through the highs and lows of UCD life, knowing that everyone in the group truly understands, it’s like a second family to me, all because of Christine and Karen.  Christine’s support was a lifeline, she gave me hope and the courage that I could be the best mum I could be to my daughter. She sees every member of our group as an extension of her own family.  It’s so important to have emotional support as well as advice about caring for yourself or your child with such a rare condition. She’s always there for all of us, even if she’s by one of her own children’s hospital beds, she’s still there supporting and caring. She’s the very first person I go to for support and advice and I trust her completely. Christine has a huge heart and is such an inspiration to so many; selflessly always putting others before herself.  I think without a shadow of doubt she truly deserves a little ‘me time’ to relax and have lots of fun. It’s odd to feel so close to someone I haven’t met. but I do.  She’s amazing. I know she doesn’t think of herself as a superhero but to me she is, without a doubt, my Metabolic Superhero!”

 

Professor Sufin Yap
Metabolic Paediatrician, Sheffield
Submitted by Sophia Tattersall, whose two sons bravely live with HCU

“I have two boys, Xander and Max, aged 7 and 10, and our Metabolic Hero is Professor Sufin Yap at Sheffield Children’s Hospital.  Xander and Max both have an Inherited Metabolic Disorder called Homocystinuria (HCU). This means that their bodies can’t process the amino acid ‘methionine’ which causes a harmful build-up of substances in the blood and urine. It is nearly four years since their shock diagnosis and Professor Yap has been there from day one, with surprise phone calls, gifts for the boys, and just going above and beyond. Last year Max was extremely poorly and she literally saved his life, and kept us sane.  She has also educated us at every appointment we attend by telling us facts and giving us titbits of information that have made things easier and educated us. She is amazing.”

 

Acute Medical Unit at Harrogate District Hospital
Submitted by Harriet Macleod, who bravely lives with PHP Type 1

“The staff team on this ward are so hard working helping me on a number of occasions. They help me feel comfortable and safe. They are always so busy yet they always have a smiles on their faces, and treat patients such as me in a positive and dignified manner.”

 

 

 

Janice, Fiona and Emma
Daughter’s Dietitian Team, Manchester
Submitted by Helen Barrance

“I would like to nominate my daughter’s amazing specialist dietitian team. They have helped us through the last few months of trying to find a feeding regime that will keep her well, with grace, humour and constant support. They are always available via phone and return calls promptly taking time to talk to us about all aspects of her health, wellbeing as well as the impact of the feeding regime on the whole family. They visit us on the ward arranging meals and feeds wherever we are and liaising between the specialist teams and the general nursing and surgical teams. I feel that I have to nominate them as a team as they work seamlessly together, and no matter who we talk to they know what’s going on, and can advise or support us to find the best person to answer our questions.  We would be totally lost without them.”