Metabolic Hero Hall of Fame (A – C)

Leyla Altug
Family Friend, bravely living with an Inherited Metabolic Disorder
Submitted by Sharon Walker

“Leyla is ten years old and an amazing little fighter who bravely battles everything she goes through. She is confined to a special chair and is fed by tube.  She is such a lovely girl and it’s a pleasure to know her and her amazing family.  She is a special girl and watching her progress is heartwarming.”

 

Emily Ashcroft
Granddaughter, bravely living with OTC
Submitted by Ann Brannan

“Emily is an amazing and brave little girl. Emily takes all of the challenges she has had in her 3 years in her stride. She smiles at everyone and lightens their life, no matter who you are. You cannot help but smile and enjoy your time with her. Emily has had a few operations since birth and has bravely managed and thrived after each of them. She is a little girl who has known since birth what she can and cannot eat by refusing to eat foods that are not good for her. Emily enjoys her life to the full and lives each day with OTC. My amazing and beautiful granddaughter.”

Emily Ashcroft
Daughter, bravely living with OTC
Submitted by Charlene Ashcroft

“Emily is the bravest 3 year old I know. She has been through so much in a short space of time. From a cleft palate discovered at 8 weeks through to eventual diagnosis of OTC at 15 months. She has had a difficult start in life. Despite everything she is happy and bubbly and loves Ben and Holly! She has recently come out of hospital after her peg operation and removing her NG tube which she managed to have without very many problems for 18 months! She has dealt with two operations now and seems to take everything in her stride. Vomiting is a regular occurrence and after she’s finished, she carries on as if nothing has happened! She is an inspiration to me and my husband. We love her and think she is the best wee girl!”

Lee Ashworth
Midwife at Wigan RAEI Hospital
Submitted by Tanya Brindle

“I nominate Lee Ashworth, the unique individual that identified my daughter Paige’s condition; Salt Wasting CAH. From those very dark days of diagnosis our midwife Lee never left our side, she was a rock to us.  She helped us deal with the diagnosis and supported us through those two weeks we spent in isolation.  She was there from the minute we opened our eyes to the moment we went to sleep, and beyond.  She continues to play a fundamental role in our family and is always just a phone-call away.

She is an individual who went above and beyond her job role, a true inspiration to her colleagues and us! She is a guardian angel in disguise and a lifelong friend.  Her family and Lee herself always find time to visit the children’s ward when Paige is admitted.  She came along just when we needed her the most.”

Owen Austin
Son, bravely living with HCU
Submitted by Katy Lloyd-Jones

“Owen was diagnosed at the age of 7 with Homocystinuria (HCU).  After having a ‘normal’ diet, to then being told he couldn’t eat the way he once did (especially because he loved food), may seem very trivial to some, yet this was massive to him and the family. Owen is visually impaired, has dyspraxia and has auditory processing disorder due to his condition being diagnosed so late on. I am happy to say Owen is now coming to terms with his life long condition and is so grown up about it even though he’s now just turned 10.  He just gets on with life despite all the barriers he has and I am amazed by him everyday for the challenges he faces, trying to form friendships, learning, just living as ‘normal’ a life as he can.  He makes me laugh, he makes me cry, he makes me proud every single second of every single day.”

Layton Robinson-Bancroft
Son, bravely living with Mitochondrial Disease
Submitted by Stacey Burtonwood

“My son was diagnosed with Mitochondrial Disease in 2014 and we were told that he could survive from a matter of months to a possible two years.  He is still with us and doing as well as can be, always has a smile on his face and wants to live life to the full.”


Lois Bardini

Daughter, bravely living with GA1
Sumbitted by Adele Randazzo

“Lois has Glutaric Aciduria type 1 (GA1) and was the first baby in England to be picked up with this condition through the Newborn Screening programme.  She is truly an amazing little girl and we are so very proud of her. Even when times have been hard she keeps us all smiling so for this she is our Metabolic Hero.”

 

Reece Blelloch 
Son, bravely living with Propionic Acidaemia
Submitted by Gemma Blelloch

“My son is my Metabolic Hero. After slipping into a coma at two days old, he was diagnosed with the rare Inherited Metabolic Disorder Propionic Acidaemia. I was told the chances of him making his first birthday were slim, and if he did make it through the first year he would likely suffer from significant learning disabilities and any form of infection would be life threatening to him.  He is now 6 years old and his love of life, determination and bravery are truly inspiring. He has battled through three metabolic strokes, pneumonia and countless hospital admissions.  The hospital was our second home for the first four years of his life, but this past two years he has thrived and is completely smashing life!!
He is profoundly deaf and wears bilateral hearing aids, this has caused him to be non verbal but he uses makaton sign language and is fantastic at it, recently winning an award at school for it!  He touches the heart of everyone who meets him because he has the most loving caring nature and always has a smile on his face.  As his mum, the pride I feel for him is beyond words.  He faces his daily battles with such courage, nothing ever gets him down and he certainly doesn’t let his condition define him.  He is just simply the best!”

 

Neil Bolton
Husband, sadly lost son Joshua to undiagnosed MCADD
Submitted by Pauline Bolton

“Over the years since our son Joshua’s death in 2006, Neil has tried to keep his memory alive by doing many different events including the London Marathon, a running relay race from London to Cardiff, the London to Paris Cycle and the Dirty Reiver Off Road Cycle Challenge.  Over this time Neil and many of his friends have raised in excess of £39,000 with more events to follow.”

 

Paige-Emilia Brindle
Daughter, bravely living with SWCAH
Submitted by Tanya Brindle

“Paige is a Metabolic Warrior.  When all you want to do is wrap her in cotton wool, she has other ideas.  Living with a medically fragile child can be both phyically and mentally demanding.  But…her funny face, her smile, those dimples, a witty comment, her desire for adventure, living beyonds the boundaries of her condition, always pushing, always thriving, always giving 110% and always giving me heart palpatations…can help make her condition seem so trivial.  When the crisis comes, when the worst happens, when those screams of pain of the needles ring out, my heart breaks.  I wish I could take it all away. Through those tears she still melts my heart when she tells me it is going to be okay.  This nomination is not only for my daughter Paige but for all those other medical warriors and medical angels. God bless to each and every one, battling each day with a metabolic condition or the loss of a loved one. My little hero has just battled both her condition and her own personal physical challenge of a mile run at the age of 6. Heartfelt proudness and an inspiration.”

Jake Brooks
Son, bravely living with Mitochondrial Disease
Submitted by Stephanie Brooks

“Jake is my Metabolic Hero because despite having Mitochondrial Disease he is the happiest seven year old boy I know.  He has lots and lots of appointments to attend but he takes them all in his stride.  He has a lot to put up with everyday but he carries on like true champ.  He is now starting to experience cramping in his muscles in his legs and feet which is causing him pain and it’s heartbreaking to see him go through it, but he manages to enjoy life and carry on being a super positive happy cheeky little boy.  Since Jake’s diagnosis we try to make as many amazing memories for him as we possibly can while things are still ok, as his illness will make him deteriorate.”

 

Kate Buckland
Friend, bravely living with PKU
Submitted by Debra Colyer

“Kate attended the PKU Association Of New South Wales Youth camp as a teenager when she lived in Australia. Kate is an adult with PKU and has had her struggles with the PKU diet but particularly formula in the past. I had the opportunity to interview Kate and her husband Ed for Vodafone World Of Difference Program in 2009 and 2010 on the challenges of living with PKU.  Kate’s life has blossom greatly since the interview, she is a positive person/role model and now works for the fitness industry organising fitness workshop for PKU people. She has also done some work for low protein companies, attends workshops and always give her help, encouragement and time to helping people as well as raising two daughters and stepson. She helps people with menu planning, protein shakes, workout routine.”

Clark Bury
Grandson, bravely living with IVA
Submitted by Angela Challice

“Our gorgeous grandson, Clark David Anthony Bury was born early by emergency caesarean on 17 November 2014 in Poole Hospital, Dorset. He was very sleepy, wasn’t feeding and was losing a lot of weight, when at 5 days old he was rushed back to hospital to paediatric intensive care where he was diagnosed with Isovaleric Acidaemia.  Clark was subsequently rushed to Great Ormond Street Hospital where he and his parents spent the first five weeks of his life. He was very poorly and it was a huge shock to his mum and dad who joined a very steep learning curve with their first child. Clark was named after Superman (his Dad is a huge fan) before he was born, and he has become a true life super child in every way! Despite lots of visits and emergency admissions to various hospitals throughout his short life, he just takes everything in his stride and despite his condition and the daily battles of protein intake, is one of the brightest, clever children we have ever known. Clark now lives in South Wales and is absolutely gorgeous to boot, he is our little hero!”

Aliyah Camp
Daughter, bravely living with an Inherited Metabolic Disorder
Submitted by Markie Camp

“Aliyah is my Metabolic Hero because she is a fighter.  She’s so strong, caring and loving!  She was diagnosed via the Newborn Screening programme. She is a trooper when it comes to labs and IVs she’s so brave and never gives up no matter what life throws at her!”

 

Dylan Caughey
Son, bravely living with MSUD
Submitted by Glenda Caughey

“My son Dylan was born on 16 April 2004 and within days of his birth we noticed he wasn’t a great feeder and was always sleeping. At 6 days old the midwife came out to do her checks and noticed he had dropped 10% below his birth weight and was very floppy.  We were sent to rapid response where they admitted him, began testing for infection and fed him via a NG tube. But he continued to deteriorate rapidly to a point were he stopped breathing.  By this time all tests for infections were clear so they decided to do some metabolic blood tests. Dylan was then diagnosed with Classic Maple Syrup Urine Disorder and was quickly moved to intensive care.  He was 12 days old when treatment began. Dylan is now 13 years old and has struggled with his condition to maintain good blood levels his whole life.  He has had 49 hospital admissions to date seven of which where spent in intensive care. He was also diagnosed with cerebral palsy at the age of eight, and 3 years ago he was also diagnosed with multi focal epilepsy. Recently Dylan made the brave decision to undergo a liver transplant to improve his quality of life. Through all these up and downs Dylan has remained a strong young man and always has a smile (he’s quite a character) funny and caring and no matter what he’s going through he always puts others first.  His strong will and positive attitude is what keeps him going.  Recently due to his determination to not let his illness control his life, he has to learn how to ice skate which certainly isn’t an easy task for a child with cerebral palsy but he won’t give up.  My son is our Metabolic Hero.”

Dr Anupam Chakrapani
Metabolic Specialist at Great Ormond Street Hospital
Submitted by Sandra Robertson

“I have many Metabolic Heroes including my daughter Helen, a Ga1 warrior of the highest order, and there have been many unsung heroes along the way.  A huge shout out to the whole Metabolic Unit at Great Ormond Street Hospital between 1997 – 2003, I thank you all!  But if I really have to choose it has to be Dr Anupam Chakrapani.  It was his first ever post as a Consultant covering GOSH over Christmas, and it turned out to be a nightmare of a shift!  But his kindness, judgement and strength of will to go the extra mile, is why our lovely Helen was able to have a full childhood and is now enjoying her adult life. Massive heartfelt thank you Dr Chakrapani, you will always be my hero!”

Michael Conway
Husband, bravely living with ALD
Submitted by Carol Ann Conway

“Michael was diagnosed with Adrenoleukodystrophy (ALD) in May 2016 after more than five years of testing.  He was initially diagnosed with MS on Christmas Eve 2015 but they kept on testing. We celebrated our 27th wedding anniversary on 18th May this year and I have been suffering from breast cancer myself, but we have kept each other going through tough times. Michael is writing a book describing the last year with ALD and hopes this may help others who have been newly diagnosed. Despite his very bad balance and poor memory, he battles every day and still goes to work, at the moment. He offers his advice and shares experiences with ALD sufferers through the ALD Life website (more about Michael’s story can be read here).”

Freya Cooke
Cousin, bravely living with Mitochondrial Disease
Submitted by Hannah Brain

“Freya Cooke…our Metabolic Hero. My little cousin Freya was born in September 2009, seemingly healthy and as cute as a button. However, as the weeks passed her Mummy Gemma and Daddy Andrew became increasingly concerned that something wasn’t quite right with their new gorgeous baby girl. Freya struggled to feed and was quickly losing weight. After several visits to the doctor it was eventually discovered that Freya was anaemic caused by severe reflux, also by this time it was clear that her head control wasn’t as good as other babies her age. Gemma’s mother’s instincts knew that something wasn’t quite right, sadly she was right and nothing would prepare Freya’s devoted parents to what was to come. In January 2010, at the age of 4 months, Freya was clinically diagnosed with Mitochondrial Disease which was later confirmed with a muscle biopsy. They were told that the earlier symptoms present then the worse the disease tends to be and Freya had presented from birth. Her symptoms included failure to thrive, reflux, hypotonia, lactic acidosis and global developmental delay. The whole family were devastated but everyone held onto the hope that Freya would prove everyone wrong…..and we were right. After an awful first 18months – 2years of Freya’s life with numerous hospital admissions, tests, false hope and tears, Freya amazed everyone and started to turn a corner. Although progress was slow at first, Freya’s determination saw her psychical ability improve massively; she learnt to sit up, crawl, cruise and then walk! Gemma and Andrew then struggled for the next year with Freya’s weight gain; she was smaller than average and generally hated food and mealtimes with each one becoming a battle which often resulted in tears (theirs and hers). But this also started to significantly improve in time.  Just as Gemma and Andrew were about to begin the process of accepting a feeding tube, Freya had other ideas and decided to start liking certain foods and although very fussy, this led on to trying more and more. Now she can’t get enough of food and is an average weight and height for her age – something everyone could only have dreamt of! Today Freya is approaching her 8th birthday and shows very little obvious signs of the disease. She is the most caring and happiest little girl I have ever known and everyone is so proud of her and what she has achieved. Freya attends mainstream school; she loves swimming and has recently learnt how to ride a bike! Freya is also a little star gymnast and has recently won a gold medal! She is so special to us all and everyone who meets her, her smile melts everyone’s hearts and I could not think of anyone else who deserves to be called a Metabolic Hero than Freya!”


Professor Emeritus Tim Cox

Metabolic Physician and Friend
Submitted by Lesley Greene, founder of Climb

“Tim first approached Climb (when it was called RTMDC) in the 1980s when he got to know a young girl who had Leigh’s disease.   He then attended our 10th Anniversary Conference weekend at Keele Hall in 1991 where speakers from all over the world including Australia, the USA and Charles Scriver of Canada were sharing their expertise with our families. Apparently, that was the meeting that changed Tim’s focus to research into Inherited Metabolic Disorders and highlighted the urgent need of orphan drugs (medicine development for rare diseases) Certainly since that time, Tim has not only been an amazing teacher to his medical students at Cambridge and lay-people at conferences, as well as exceptional clinician and researcher but has also supported the rare disease cause tirelessly week in, week out as our friends in the Gaucher, Niemann Pick, Tay Sachs Disease and MPS communities would verify (to name but a few).  Tim has dedicated his life’s work to care, support and research of rare diseases and those who are touched by rare diseases as patient or carer and Tim is an outstanding unsung hero whom I therefore nominate as one of many many other unsung heroes in the NHS to whom we owe the lives and care of so many of our members.”

Doctor Alison Cozens
Lead Metabolic Clinician at Royal Hospital for Sick Children, Edinburgh
Submitted by Kay Ryan

“Dr Cozens is an absolutely amazing woman. From the day my daughter was diagnosed with MCADD, Dr Cozens has made us feel at ease with the conditions and herself.  She explains everything fantastically, she has encouraged us through hard phases and takes time to say “well done” to us parents. She makes herself available even out of hours in case we need to call to check something if we are unsure. We have had to do this a few times in the past and never once did she seem put out. She even called on Christmas after an admission to check our daughter was doing ok at home. I absolutely admire her knowledge, kindness and selflessness. She deserves to win for all of those reasons and many more. It takes a certain kind of person to do that job with sure passion and care, and she definitely is that person.”

Julie Claire Cullen
Daughter, bravely living with GA1
Submitted by Hayley Cullen

“Julie is my fourth child.  She suffered years of unknown illness including seizures, falling constantly and months of sleepless nights as she was afraid of having another fit.  We went on to have test after test, EEG, MRI, CT scans, bloods, but never any answers.  Julie just got on with it, never complaining.  I went on to have two further children and my last son, born in 2016, was detected to have glutaric aciduria type 1 (GA1) via the Newborn Screening programme.  Our whole family felt heartbroken and we didn’t know how to take the news.  We read up and saw the positives and the negatives but we always had smiles on our faces.  Julie was the greatest help, she knew that an illness is a day to day thing and always made us smile.  A few weeks after my son was diagnosed, our doctor recommended that our other kids received genetic tests and that’s when we found out that Julie had suffered for 7 years with a rare genetic disorder that we knew nothing about – she also had GA1. It has changed her life; her diet had to change, she now requires medication every day, we have to avoid illness so her social life has had to change dramatically in case she picks up any illness. But despite all this she is always concerned about her brother, she never thinks of herself, she knows what her brother can eat and how many grams of protein is in each item she eats, she has become the medical professional! She is the happiest child despite everything she goes through and is most definitely our Metabolic Hero.”

Liz Curtis
Friend, Founder of the Lily Foundation
Submitted by Emmy Palmer

“When our daughter was diagnosed with Mitochondrial Disease we were sat in a room and told her life would be short for these reasons then handed a Lily Foundation leaflet. We are so thankful for that leaflet. Through Liz and the Lily Foundation we have had so much support. We met other families going through similar, attended lectures with leading experts. We have been provided with a short break to make memories and through their Helping Hands scheme we received a summer house for our daughters Make a Wish spa. The Lily Foundation have funded lots of important research and achieved great things towards a better future for families like ours. Without Liz’s loss of her daughter Lily she may never have founded this amazing organisation. I think her and her family are heroes, despite their sorrow, they created an amazing charity in Lily’s memory that has achieved so much for the Mitochondrial Disease community.”

Josh Cutler
Son, bravely living with MPS11
Submitted by Sarah Cutler

“My son Josh was diagnosed with MPS11 when he was two and a half. He has never complained about the treatment he has and continues to make us proud every day. When Josh was 4 we knew that ERT wasn’t working the way it should, and after a lot of tests it was found that Josh had been mis-diagnosed!  Despite this he continues to be the happiest boy we know, He is 8 years old now, and has had five operations and over 300 infusions and without thinking, he asks if we are ok and makes sure his three sisters are always happy! He is truly our Metabolic Hero!”

Jackie Cutts
Metabolic Nurse Specialist at Sheffield Children’s Hospital
Submitted by Nicole Bexon

“We love Jackie. She has always been so lovely with Madeleine and us parents since she met us when Madeleine was 18 months old. Jackie always seems happy to see us and she has always been so loving towards Madeleine. Whenever we have been worried or had any questions we have always had comfort knowing that we ring or speak with Jackie and we know she listens to us and listens to how we are feeling. She is perfect with the children and helps the children feel at ease at all times. When we had difficulty explaining Madeleine’s condition to school Jackie drove 30 miles to sit in a meeting with me at school. She was so very supportive and knowledgeable and made myself and the teachers and SENCO at school feel confident with managing Madeleine’s condition. Madeleine looks forward to going to Sheffield Children’s Hospital to her appointments, as she looks forward to seeing Jackie. Jackie is always so warm and welcoming to Madeleine and always gives her cuddles. Jackie Cutts is an amazing specialist nurse and in our eyes and hearts, a worthy winner. Jackie is definitely our Metabolic Hero. We love Jackie. Our family nominate Jackie Cutts.”