Metabolic Hero Hall of Fame (D – L)

Harriet Davies
Daughter, bravely living with Mitochondrial Disease
Submitted by Anita Haddon-Davies

“My daughter found the girls at her primary school difficult to get on with and it was decided that she would go to a secondary school where those girls weren’t attending. Sadly, from 12 years of age Harriet was bullied by the girls at her secondary school, particularly from a girl who lives down our road. This meant that Harriet’s school life was constantly interrupted through no fault of her own. Then in 2015 on a family walking holiday with Harriet (then 15 years of age) we nearly lost her over the side of a cliff as she became unbalanced with her walking. My husband had to tie a rope around her in order to guide her down the mountain-side, putting one foot in front of the other. It was at this point we knew something was seriously wrong with her. After two years of constant hospital appointments in order to find out what the problem was, she has now been diagnosed with Ataxia. Harriet is due to have a muscle and skin biopsy to check for an underlining Mitochondrial Disease in September. Consultants have said they think stress gained from many years being bullied at school may have triggered the rare disease in 2015. Harriet has taken her GCSEs recently and struggled through despite limited brain activity. We are trying to stay positive as a family for Harriet and hoping for her to attend college in Worcester to help her with personal development. Despite all this she continues to remain positive and smile each day and with her not knowing how long she will survive the condition (as her cerebellum is reduced in size). She and I support each other on a daily basis and I felt so proud when she attended her Prom this year and stood looking ‘beautiful’ amongst those bullies who had ‘put her down’ so many times. Many a person may not have been able to have come through to the other side as she has done.”

Doctor Anthony Dixon
Endochrinologist, Wrexham Maelor Hospital
Submitted by Ian Erentz

“I have an Inherited Metabolic Disorder called familial partial lipodystrophy (de-novo mutation). From 12 years of age I knew that there was something wrong with me, as I lost a lot of weight for no reason, became really gaunt in the face.  I never looked like my peers or even family members; as I am the only sufferer of familial partial lipodystrophy within my family. Others also noticed my fat wasting, even adults, and I received extreme judgements and bullying from a young age from both my peers and adults due to my physical appearance. As a teenager I would go to the doctors all the time and tell them about my weight loss, about my inability to gain weight and about my constant hunger (hunger is a symptom of lipodystrophy due to low leptin levels). No medical professional ever believed me, they thought that it was self inflicted.  I was 5 stone as a teenager and as a result, at 15 years of age, I was diagnosed with anorexia and bulimia. I knew this was an incorrect diagnosis as I would eat excessive amounts of food and was always hungry, I just could not gain weight. One doctor even accused me of being on drugs and that was the reason I was so thin.
Familial partial lipodystrophy is a progressive metabolic illness, which affects most organs. As an adult I would go to my doctors saying there is something wrong with me as I cannot gain weight and have fat wastage from my face and limbs. I now know that these are signs of lipodystrophy; such as excessive fatigue, low energy and other symptoms relating to organ damage, but not one doctor believed me. I was diagnosed with depression hypochondria, as I would go to the doctors with many symptoms. I was even referred to the mental health team for depression and hypochondria and was told all my symptoms and fat wasting was in my head and there was nothing wrong with me. I developed type 2 diabetes and was finally referred to an endocrinologist, who is my Metabolic Hero.
On the first appointment I told him about all my symptoms and fat wasting and he listen to me and believed me. He was the first ever healthcare professional to believe me. It was so, so refreshing to finally hear this and not get told it was all in my head, as other doctors made me feel like I was going crazy and that I was suffering from mental health problems. On examination my Metabolic Hero took one look at my weight, fat wasting and diabetes and agreed with me that there is something going on and it’s not all in my head. He did extensive research and sent me for the genetic testing for familial partial lipodystrophy, which came back positive. I later learned that my condition and specific mutation is a serious metabolic illness, which consists of multi organ damage and only 19 people worldwide have been diagnosed with my exact mutation. My endocrinologist is no lipodystrophy expert and I am the only patient he sees with lipodystrophy. He just believed me and did extensive research about my fat wastage and symptoms. He is the only healthcare professional to ever listen to me and believe me that I was not doing this to myself. My endocrinologist goes out of his way to help me with both treatment and support. He is even in touch with another specialist on my behalf who treats another family with my exact mutation. This has helped in terms of treatment and my emotional wellbeing, as he is helping me to get in contact with this other family. I am very grateful to my specialist, as if it was not for him I would still be undiagnosed and getting told all my symptoms are in my head and would be under the mental health team for having depression and hypochondria. If it was not for my endocrinologist, I would still be undiagnosed in all the complications of lipodystrophy like heart and kidney disease and would not be on the correct treatment to prevent my health issues from worsening and my health would be far worse in terms of metabolic abnormalities. If it was not for my specialist I would not be under the care of Addenbrooks Hospital in Cambridge, who have the only specialist lipodystrophy clinic within the United Kingdom. My endocrinologist goes out of his way to help me and I can honestly say he saved my life, as if it was not for him I would never have been diagnosed. This is why he is and will always be my Metabolic Hero and will forever be the only healthcare professional I trust with my health. I am also very grateful to Climb, as they helped me when I first got diagnosed and put me in contact with others suffering from familial partial lipodystrophy via email.” 

 

James Dodd
Former Pupil, bravely living with Leigh’s Disease
Submitted by Emma Brindle

“James is an amazing little boy. I’ve watched him grow from nursery to year 3 (he is just starting year 4). In nursery he was just like all the others, running climbing etc and he slowly started to go down hill due to his condition. He never once let this worry him. He has an amazing personality with many friends that love and care for him. He wears the biggest smile and makes people laugh on a daily basis. He has made me see the world very differently, and to never give up, keep strong and keep fighting. I believe everyone who has been nominated are heroes and there are many more heroes out there. Keep fighting everyone x”

Finleigh Doran-Smith
Daughter, bravely living with CAH
Submitted by Kate Doran-Smith

“Fin never used to mention why she needed medication 4 times a day and why we were so much more protective of her than our other kids, but she’s recently entered the ‘tween’ years and is becoming more aware of her condition – congenital adrenal hyperplasia (CAH) and how it’s made her life trickier than others. She’s had so many hospitalisations and is so tough (I remember them trying to get a cannula in and failing after numerous attempts and her streaming with tears but saying “go on, try again, it’s ok.”  As she becomes a woman and her hormones kick in, she’s talking more but also getting upset more about how unfair it is. We chose the name Finleigh as it means ‘fair warrior’ and our special girl has fought since day one and won’t stop anytime soon. She will have a little cry to herself every now and again and get angry at getting woken EVERY midnight and 6am for meds, but she will NOT be defined by her condition. Braving a football tour with Norwich city (who she plays for) last year was a big turning point. She was so scared; not of the normal stuff that kids fear, but about whether her coach would forget her meds, or whether she could remember her hospital number in case she has an admission whilst she’s away. She’s just won the local football league, went undefeated all season, was top goal scorer and has been signed for the 3rd season at Norwich academy. She also secured a place in the advanced coaching programme, which is the England football pathway. She’s amazing. Unique. Special and altogether perfect.”

 

Tom Dow
Client and Friend, bravely living with Leigh’s Disease
Submitted by Beynon Owen

“Tom is an inspiration to me and many others who filter through his life. Tom has a type of Inherited Metabolic Disorder called Leigh’s Disease. This means that treatment, support and understanding are always limited. But having huge pillars in Tom’s way has never held him back, or down. Tom is happy and rarely unmotivated or down, causing all who spend time with him to be motivated. Tom’s achievements, given his physical and mental challenges ,are feats in themselves. Tom has been the youngest person allowed to skydive in Australia at age 13. Getting special permission to do so, he then went on to skydive another two times. Tom had two steel rods put in his back stopping him from a fourth. But Tom has not stopped.  Recently he did a canyon swing in Queenstown New Zealand while on a snow holiday with friends. With a 60 metre freefall down the cliff face to a 200m swing above the Shotover Canyon cold water. This jump was done to raise money and awareness for Mitochondrial Disease. Tom, in his usual week, will do activities like MMA training, wheelchair football, solo sailing on his local lake, yoga, indoor rock climbing, stand up paddle boarding and surfing when he can string together enough hands to help stop him swallowing too much water when he comes off! Tom was presented by the Governor General of Australia with a Variety Club Heart award when he was young. This was for the care he gave his sister Laura who died at age 6 from the same medical condition. Tom has recently started his own non-for-profit charity based event platform where he can do these amazing physical challenges and ask people to support a charity in the event’s name. To date Tom has raised more than $4000 for different charities. His next challenge is a 35km run in Sydney with a bunch of friends for AMDF. Last year it took Tom 6 hrs to do the 35km run, going up and down stairs with a manual chair. With his platform ‘challengetom’ Tom has done tandem kiteboarding, outdoor abseiling, sailing and flying fox across a gorge, I think Tom’s attitude says everything to me. Hero is an understatement. To me he is an example of how to turn lemons into any drink you want.”

Abigail Edwards
Daughter, bravely living with LCHADD
Submitted by Nicola Edwards

“My daughter was 4 months old when she nearly lost her life. The third time she stopped breathing, she had a stroke. She was diagnosed with Long Chain 3 Hydroxyacyl CoA Dehydrogenase Deficiency (LCHADD) and Birmingham Children’s Hospital saved her life. I was told she would only live until she was 16, yet she is now 16 and doing very well.  She does not complain about a thing, when she is poorly she just gets on with life.  She is my daughter, my hero.  She showed me how to get on with life. I am a single mother and she is my angel. xx”

 


Dr Areeg El-Gharbawy

Metabolic Specialist, Children’s Hospital of Pittsburgh
Submitted by Rachel Wiggins

“I am so happy to tell you about my son’s Metabolic Specialist, Dr Areeg El-Gharbawy, who is our Metabolic Hero!  At four months old, and while living in another state, my son Cooper was diagnosed with Glycogen Storage Disease (GSD) Type 1a. We relocated to Pennsylvania to be closer to family so that we could get a little bit of relief and help.  Little did we know when we moved that we would be blessed to find a doctor who is so knowledgeable about our son’s condition, and who is so compassionate, that we would be able to maintain our son in excellent metabolic control, at home. This was absolutely not the outlook or prognosis that we had been told to expect by his diagnosing physician in another state. She has empowered our family to keep Cooper safe at home to the maximum extent possible. She has educated us, shown compassion for us, and made herself available around the clock during times of illness to ensure that Cooper is safe, and that we as his parents understand his care requirements.
As a mother, it is invaluable to me that Areeg has empowered me to understand my son’s needs and care for him at home in such a way that (although medically fragile), he is thriving, he is strong, and he is healthy. This is a gift she has given to my husband and I that we cannot repay. This is especially important given the asymptomatic nature of GSD-1a. Without her care, and the education that she has given us in clinic, we would NOT be able to sustain our son at home like this. In fact, in many cases, we would be unaware of the needs he has, since he appears healthy on the surface.
As part of an online GSD support group, I am aware of the relative health of many other children with GSD-1a. Based on my conversations with them, comparing notes about the advice and care that they receive from other children’s hospitals, I can tell you that Areeg’s patients are some of the healthiest GSD-1a patients in the U.S.  Based on this network, and based on our experience with other doctors in another state, I can only tell you that the care, attention, and compassion that Areeg provides is not to be taken for granted. This is not the rule, and is not the level of care and compassion and knowledge that I expected to encounter when we moved. I am humbled, my family is blessed by Areeg, and my son is thriving today, in large part because of her care.”

 

Payton Foster
Daughter, bravely living with MCADD
Submitted by Kathryn Foster

“Payton is my 15 month old daughter.  She was diagnosed with MCADD from a simple heel prick test on day 6 of bringing her home. A Metabolic Nurse from Birmingham Children’s Hospital came out to my house to break the news to her father and myself.  A proper blood test needed to be performed to give a definitive diagnosis, and only a few hours later we had an appointment at the hospital to talk to consultants and dieticians and to have the blood test. MCADD was something I had never heard of, and if I’m honest didn’t pay much attention to the midwife when reading out the list of conditions that the heel prick tested for; I was blinded by the pink bundle of joy I was holding in my arms. The hospital confirmed MCADD, and I made a pact with myself not to google anything, but relied on the information given to me by the hospital and Climb to inform myself of Payton’s condition. Day to day she lives a very happy ‘normal’ life, and luckily has a very healthy appetite. She has been admitted to hospital upon fighting infections, had naso-gastric tubes fitted, forced to drink her emergency medicine…but every time offers a smile that would melt anybody.  Payton has no idea of her condition, no comprehension at all, none of the anxiety that me or her father feel when she doesn’t want to eat or starts to get a runny nose or a cough. But she is a true hero to me, such a happy carefree little girl that always finds a smile.”

Jackson Fukuda
Colleague and Friend, bravely living with Arginase Deficiency
Submitted by Meredith Grimm

“My Metabolic Hero is Jackson Fukuda. Jackson was born with the rare Urea Cycle Disorder, Arginase Deficiency.  This extremely rare disease is associated with neurological/muscle abnormalities if it is not diagnosed early in life. This disorder requires a lifelong, highly restrictive, low protein diet to avoid neurological abnormalities and potentially life threatening complications.  As is so often true with many rare diseases, Jackson was not correctly diagnosed until he was 4 years old. This late diagnosis negatively impacted his mobility. I came to know Jackson 2 years ago while working as a patient advocate for a small biopharmaceutical company developing an experimental therapy for this disorder. Jackson became an important educator instructing me and my colleagues about the personal impact of this disease. Despite the challenges of life with Arginase Deficiency, he successfully completed a four year college degree and has become a respected graphic artist. An example of his artwork is currently entered in the RareArtist competition sponsored by the EveryLife Foundation. Most importantly, he shows by example how we all should live to our fullest capacity. His wisdom extends well beyond his years; he is a teacher, he is brave; he is an inspiration. He is a person that has positively changed my life and the lives of many others who have been touched by his experiences, perspectives and actions. He is thoughtful, he is caring and has a genuine compassion for others. He is my hero.”

 

Samuel Gibson
Son, bravely living with PKU
Submitted by Claire Gibson

“Our son Sam was born with PKU and is now aged 7.  He is an amazing young man and every day he takes it all in his stride. He understands what his PKU means, and that he can’t eat what we eat.  He knows how to explain this to his school friends and also to the other boys and girls we have met at many PKU social events. He doesn’t let his condition stop anything he wants to do. He loves to dance and was a finalist in his school talent show aged 6! He loves his swimming lessons every week and also goes to the local skatepark and rides his BMX on the slopes. He has five older brother and sisters who all have had to learn about his diet, and he reminds them if they forget!  He is an amazing little boy and very grown up for his age, some days are harder than others but he always come through the other side smiling.  He wants to be a Policeman when he’s older “to make the world a better place” (his words)! We don’t know how he copes with his diet but never grumbles and always has a smile.  Our very own cheeky chappy!”

Kelly Gilbert
Friend, mother of Freya who bravely lives with PDH
Submitted by Katie Smith

“Kelly is the Mother of Freya. Freya has Pyruvate dehydrogenase deficiency (PDH) and was diagnosed when she was less than a year old. Kelly has fought for the right treatment for Freya, exploring new avenues at all times to ensure Freya has the best quality of life. Kelly recently presented to an audience about her experiences of diagnosis and management of a rare Inherited Metabolic Disorder. Kelly showed these professionals what is like to be a parent who receives this information and has to live with a life-limiting diagnosis. Kelly shows so much determination in fighting metabolic disorders, and she is an inspiration to all working within the field. Kelly has set up her own foundation for those with or affected by PDH – The Freya Foundation. She has been a great support for many families who have received diagnosis or undergone testing for PDH.”

Clodagh Gilmore
Daughter, sibling to Jason who bravely lives with MCADD
Submitted by Ellen Gilmore

“This is my eldest daughter Clodagh. She is our Metabolic Hero as she has been brilliant since her wee brother was born in March 2016 and was diagnosed with MCADD.  The two of them have such a brilliant bond.  She looks after him when he’s sick, not because she has to but because she wants to. He cries for her when he is sick; she has a mother’s instinct for him and has even woke out of her sleep when he has been sick to come look after him and won’t go back to bed no matter how many times she is told.  When Jason had a bad metabolic crisis on New Year’s Eve 2014 and we nearly lost him, she cried her heart out. She came to the hospital that night and wouldn’t go home, she lay in bed beside him. She’ll sacrifice days out playing to stay in and look after him no matter how much she is told to go and play. She really is an inspiration to us all.”

 

Shannon Grant
Daughter, bravely living with SWCAH
Submitted by Dawn Grant

“Shannon has a rare Inherited Metabolic Disorder called salt wasting congenital adrenal hyperplasia (SWCAH). She also has global developmental delay, speech and language delay, rubenstein-taybi syndrome and autism.  Her conditions have made me a better person. She’s humbled me and helped me grow. I learn from her all the time, I have no idea how she copes with her disabilities but she does, and she does it everyday with little complaint. She is my hero and always will be.”

 

Mia Helps
Daughter, mother of Austin who bravely lives with ASA
Submitted by Penny Helps

“Mia. This name should be included in the English dictionary with the following meaning: tenacious one, full of compassion, adoring mother, strong, patient, lioness, determined, selfless. I could go on for a while but most of all, my daughter, mother of 6 year old Austin, born with argininosuccinic aciduria (ASA), lives on her own with her little son, 120 miles from us and her family.  Her relationship with Austin’s father sadly failed twice and now she battles on, on her own with no complaints, just sheer hard work and devotion to our darling little man that we almost lost at 4 days old. He had many days in hospital during the first four years of his life but now he’s beginning to get stronger I’m glad to say. Mia can only work part time due to lack of secure childcare and help from local services has been very sparse. While as her parents, we help where we can, it’s not enough. This year she so wanted Austin to go on an aeroplane and swim in the warmth of the sun. We took them away but ‘oh my’ did it go so very wrong. We ended up in hospital in Murcia, speaking little Spanish, and even though we’d had his SOS details translated, we were badly received and Mia yet again, had to fight for her son’s wellbeing.  She was incredible. She found a friend that spoke Spanish to the medics on her mobile and then found a translation app on her phone which helped greatly. Not the holiday she wanted for Austin.  All of those with an Inherited Metabolic Disorder are special people and so are those that care for them. My heart goes out to you all, may your God be with you.”

Matthew Hitchen
Son, bravely living with MMA
Submitted by Sophie Hitchen

“When my son Matthew was just 3 days old, not only was I getting used to the fact I was a new mum, but I was completely thrown in the deep end.  Matthew was only given 48 hours to live after he was diagnosed with methlymalonic acidemia (MMA) at 5 days old. He is now four years old and has  just started ‘big boy” school. He has helped me understand more then I ever thought I could. He helped me find myself though postnatal depression and I have become such a better person.  He has overcome every battled he has had to face and I could not be any prouder of him.  He makes me cry happy tears knowing what he has achieved. When doctors didn’t even think things were possible, he showed them, me, and medical science that anything is possible and for that he is definitely my Metabolic Hero.”

Caroline Howat
Mother, four children with PKU
Submitted by Jean Paul Jesstiece

“My mum is by definition the most unluckiest mum in the world. In 1975 she gave birth to my sister Lyndsay who was diagnosed with a rare Inherited Metabolic Disorder called Phenylketanouria (PKU). She was 21 years old and knew nothing of this rare condition that affects 1 in 10,000 newborns. She found the intense dietary requirements for little Lyndsay to be a huge struggle and tried her absolute best to keep on top of what was best for her quiet, angelic and beautiful daughter. 11 months on, my mum had a second blessing in delivering a second baby girl Gaynor.  Unfortunately for Caroline, Gaynor also had PKU and life was going to become twice as hard. After 18 months or so, doctors at Alder Hey Children’s Hospital Metabolic Care Unit decided to seek social help for Caroline and her two girls, who where finding life with a rare metabolic condition extremely difficult. After a multitude of observations and considerations, social services took her two daughters Lyndsay and Gaynor away from her on a temporary basis. However, ten years or so passed by and Caroline had spent only a few days with her two girls, but had been to the highest court in the land to fight to bring her children home, claiming she had been mislead by social workers who had offered to look after her two girls whilst she recovered from a nervous breakdown. At 23 that must have been horrendous.
In the interim period of 1975 -1990 Caroline had given birth to two boys myself Jean-Paul (now 35) and Dominic (now 30).   Both my brother and I also have PKU.  This would statisticly make my mother the parent of 4 children with a 1 in 10,000 chance of this inherited condition. That makes her most likely the unluckiest mother having 4 children with the same inherited metabolic condition in the world. Furthermore in 1991, Lyndsay and Gaynor had finally become old enough to seek our their mother and came home, albeit for a short while.  Sadly my two sisters had been told that their mother had abandoned them and never came to collect them. This horrendous statement has driven a wedge of pain into my mother’s heart which is still very much present today. In fact my mother was told by the high court in London that to move her children from their foster home would be contrary to the best interests of the children. In 1991 my sisters told my mum that through out period of 1978 to 1990 they had been victims of a peadophilic organised family, working with in the social care system.  To this day I have wanted to tell this story, and it has contributed to me needing therapies through psychotherapy and counselling to cope with a story that had nothing directly to do with me and started 7 years before I was born.
My sister Lyndsay passed away suddenly in 2015, due to a complication with her heart from excessive weight gain as a result of her condition. She left three beautiful daughters all under 15 the youngest aged 4. My sister Gaynor has been diagnosed with a brain tumour which she believes is the result of 25 years of anti-depressants. My mum is 64.  She is suffering hugely from chronic depression, and tries so hard to accommodate her three grandchildren of my late sister. She lives in a council house and has hardly a bean, having trying so hard to support her three little grandkids. She did however raise two successful sons who painstakingly try their best to keep their mum’s moral up, knowing she has been terrible terrible pain for 40 years because of one tiny little gene that made her beautiful blue and brown eyed daughters sick. My mum Caroline is my Hero”

Darcey Jowett
Daughter, bravely living with Galactosaemia
Submitted by Sarah Tiroke

“Darcey was born on the 18th November 2012, perfectly healthy and weighing 6lb 13oz. Within a day of her birth she was showing signs of illness. She was breastfed at the time and taking to it well, until a few days after she was born she began to rapidly lose weight. She was seen by many health professionals, and no answer could be found. Within ten days she was jaundiced, severely dehydrated and down nearly 2lbs in weight. We took her to A & E and she was sent home again. She was finally admitted at 16 days and diagnosed with swollen liver, gall stones, septicaemia amongst other things and possible biliary atresia. She was such a fighter, so tiny, and with so many life threatening conditions. She was finally diagnosed with Galactosaemia and began to thrive on non-milk formula. She’ll be turning 5 in November and cannot yet talk, has trouble with her mobility and has to have a restricted dairy-free diet, yet despite all her obstacles she is a fighter.  She tries her best to keep up with her peers and despite her issues with co-ordination and strength, she can out-walk her sisters (albeit she’ll suffer later), and has such determination in everything – always ready with a hug and smile to cheer up those around her. Even when she gets shouted at in supermarkets, when she can’t cope with the bright lights and people, she’ll still try and help me carry the basket when she’s calmed herself down. She truly is a hero to our family, she’s taught her two big sisters to be brave. When she has regular blood tests, when she falls over, and when she has her MRI next month, all those things she’s had to endure, teach her sisters to be stronger. She’s taught us to be stronger, and opened our eyes to disabilities and the amazing health professionals that help others like our daughter. We feel she deserves to win, because she’s so full of life and has so much to offer those around her. Darcey has been told she might never be a ballet dancer and might always have learning disabilities, yet she survived twice the amount of time most babies do with her condition, as well as surviving septicaemia. We want to prove that Darcey and others like her can achieve against the odds, and raise awareness of metabolic conditions not tested at birth and raise awareness of intellectual disability and speech disorders.”

Aaron Lawrence
Son, bravely living with OTC
Submitted by Anne Lawrence

“My little boy Aaron is 6 years old and is a crazy, silly, active child. He is always smiling and enjoys life completely. At the age of three, he was diagnosed with a rare Urea Cycle Disorder called Ornithine transcarbamylase deficiency (OTC). He has had regular admissions to hospital since the age of one and now, thanks to a low protein diet and medication, these are less frequent. However each time Aaron gets any illness that stops him eating or makes him sick he has to have an intravenous drip until he is better. Aaron copes with multiple blood tests, cannulas, and hospital life extremely well. He has learnt that these are part of his life and despite all the discomfort and pain he suffers, he still always skips into the children’s ward each time without hesitation. His strength amazes me and I am so proud of how he copes with everything – from never complaining when he can’t have a burger, to taking his medication three times a day without fail. He has grown into a loving caring child who helps his friends when they hurt themselves at school and always knows the right thing to say to make them smile. At the moment he knows he has a special diet and that something in his body is missing a tiny thing but that is all he realises to date. However, as he grows older and learns more, I hope he will carry on with his amazing positive approach and keep on teaching us all how to make the most of every precious day we are given with our loved ones. We have been warned that his condition may worsen as he gets older but until then, we just want a chance to spend as much time with our family and make life as normal as possible for him.”

Rachel Lawton
Friend
Submitted by Paige Brindle, who bravely lives with SWCAH

“I, Paige Brindle, nominate Rachel Lawton as my Metabolic Hero.
Not only did she run the London Marathon for the first time this year but she has helped my mum manage her depression through running and she has encouraged my mum to complete her first 10k run in September 2016.  Rachel took on the 26.2 miles for Climb and me!  She is an inspiration, not only to my mum but also to me as well.  She is not only a Metabolic Hero but my unsung hero too.
I love you Rachel, love from Paige (age 6) xxx”

Laura Linford
Daughter, mother of Alex bravely living with VLCADD
sadly lost son Jack to VLCADD
Submitted by Debbie Wilmott

“Laura fell in love with a young man from the same local village. Having moved in together their little family started when she was only 20 years old. Alex was born in October and was a perfect little boy, or so we thought, until a doctor noticed something not quite right with his blood results and asked Laura to return to her local hospital. They immediately stopped her from breast feeding and took him to special care with no explanation. After tests and several days of waiting he was diagnosed with VLCADD. The feeling of failure and ‘what did I do wrong’ would be on anyone’s mind. I mean, what are the chances of two people from the same village having the same genetic gene disorder? After months of uncertainty and many many trips to A & E Alex had a portacath fitted to help with emergency access.   Laura took it in her stride, and accesses his port herself to keep it flushed. Two years later, Laura had another baby, another beautiful boy, Jack.  His tests also came back positive for VLCADD but it didn’t phase Laura she took it onboard and just treated them both the same anyway. Jack never seemed to be as ill as Alex and didn’t have as many trips to A & E so we thought ‘have they got it wrong, could he actually be okay?’ We were to find that out after Jack had a bout of d & v. He seemed fine in himself, but during one night his blood sugar fell so quickly that after being treated in resus, a CT scan on his brain showed that Jack’s brain had died and he would not recover. To say our whole world fell apart would be an understatement but Laura held it together (more than myself) and made the brave decision to donate her two year old’s organs to help others. Two years later, Laura had a little girl who does not have VLCADD but is the image of her big brother Jack. A little family once again. Laura fundraises for Climb which I think gave her a sense of purpose following Jack’s death and continues to raise funds for the local hospital which Alex still attends. Laura is my little girl, now 28 years old, but who I admire greatly for how she copes with so much. I can’t begin to know where she finds her strength from…but she does.”

Lara Williams Lourenco
Daughter, bravely living with MMA
Submitted by Julie Williams Lourenco

“Lara was diagnosed with MMA Muto shortly after birth. Despite many setbacks, hospital admissions, operations and a kidney transplant she is now 17!  She has dealt with it all with a smile. She never complains and is a joy to all she meets!  She has helped to raise lots of money for Great Ormond Street Hospital as well as our local hospital in Worthing to help other poorly children.  She is definitely my Metabolic Hero.”