Metabolic Disorders Awareness Week 2020:
6th – 12th July 2020
Metabolic Disorders Awareness Week is one of the highlights of our year; a fantastic week-long opportunity to raise awareness of Inherited Metabolic Disorders by sharing your stories and helping people understand more about these complex and rare conditions.
How to take part:
Raise as much awareness as possible of Inherited Metabolic Disorders and help people understand more about them by:
- Adding our special ‘Twibbon’ frame to your Facebook profile picture for the week, and encourage all of your friends to do the same!
To get your Twibbon frame, please click here or search “Metabolic Disorders Awareness Week 2020” in the “add frame” section when updating your Facebook profile picture.
Share your new framed profile picture, tell everyone why Metabolic Disorders Awareness Week is important to you, and don’t forget to tag @MetabolicSupportUK in your post!
- Telling your story – the most powerful way of raising awareness – adding faces and personalities to these rare conditions brings home the effect that they have on patients and their families. Scroll down this page to read some of the inspirational stories that families have shared during previous Metabolic Disorder Awareness Weeks.
- Holding an event during Metabolic Disorders Awareness Week – hold a virtual or in-person event to raise awareness of your condition and money for Metabolic Support UK to allow us to continue to support patients and families with Inherited Metabolic Disorders.
- Sharing our infographic video and helping people understand more about Inherited Metabolic Disorders.
- Fundraising or making a donation to Metabolic Support UK – your support will directly help us to continue our vital work, improving the lives of those affected by Inherited Metabolic Disorders. You can donate here.
If you’re holding an event during Metabolic Disorder Awareness Week, please email Maggie on email@example.com, so that we can share how you’re celebrating Metabolic Disorders Awareness Week on our social media channels!
How did we celebrate last year?
We would like to say a HUGE thank you to everyone who supported Metabolic Disorders Awareness Week from 1st – 7th July 2019! We were blown away by the sharing of stories and experiences, helping people understand more about the conditions that affect loved ones, and showing why raising awareness is so important. Take a look at our blog to read all about Metabolic Disorders Awareness Week 2019: https://www.metabolicsupportuk.org/metabolic-disorders-awareness-week-2019/
In 2018, we launched our new Metabolic Mile campaign. Hundreds of people took on a Metabolic Mile for Metabolic Support UK and our community helped raise an amazing £10,000 (!!), which will help us support more and more families with Inherited Metabolic Disorders. A Urea Cycle Disorders support group on Facebook also created a video to help raise awareness of Inherited Metabolic Disorders. This video was viewed over 6,800 times, which will help us raise further vital awareness of Inherited Metabolic Disorders.
With thousands of people seeing our Awareness Week logo, stories, photos, posts and events; and learning more about Inherited Metabolic Disorders and the real life experiences and effects on families, you have helped us raise vital awareness of Inherited Metabolic Disorders and we are so grateful for your support….THANK YOU!!
In 2017, we held our My Metabolic Hero campaign, which had an incredible response and some truly inspirational nominations! Thank you for helping us celebrate some of the wonderful people in our special community!
In 2017, 845 people changed their Facebook/Twitter profile picture to the special Twibbon with a reach of 502,600 (!!!) and shares of our social media posts reached another 120,000 people, with even more reached by your friends sharing your posts! Over 8,200 people also viewed our infographic video during the week explaining what Inherited Metabolic Disorders are.
In 2016, we ran the #mymetabolicselfie campaign during Awareness Week, and we were blown away by your support! Hundreds of patients, friends, family members (even pets got in on the act!), health and medical professionals, patient organisations, pharmaceutical and nutrition companies, schools and many more took over social media with ‘metabolic selfies’ and personal stories of why raising awareness of these rare conditions is so important. We estimate that the #metabolicselfie campaign reached over 100,000 people!
Metabolic Disorders Awareness Week has got off to a great start, with hundreds of Facebook profiles using our Twibbon, sharing information about Inherited Metabolic Disorders, and sharing personal experiences. Telling people your story is the most powerful way of raising awareness; adding faces and personalities to these rare conditions brings home the effect that they have on the patients and their families. Read some of the stories that our families shared on social media in support of the awareness week:
The Harwood Family: Alex’s Story
Alex has Leigh’s disease and, just to complicate things, a secondary condition called idiopathic intracranial hypertension.
She was born on the 12th May 1991 when I was 20 years old and frightened to death. She was born perfect in every single way; illness or problems with her development never crossed my mind as we had nothing of significance in the family. She didn’t feed overly well and struggled to put on weight. She vomited after almost every feed. She started struggling to reach milestones but the health professionals didn’t seem bothered, so I wasn’t either.
Things came to a head just before she started school. I remember going to the GP and told him that Alex still wasn’t talking and was on a par with the Tasmanian Devil!
The GP looked at me as if I was slightly neurotic. I told him that I wasn’t moving from his room until he had referred me! He decided that he would send us to the Speech and Language Therapy (SALT) service. I remember arriving at the speech therapist’s office on that Monday afternoon and everything about that appointment. Alex just whizzed through the room causing destruction! The therapist looked at me and my husband, Gary, and said, “what would you like me to do about her?” It sounds harsh, but in fact it was because of the speech therapist that day that we were referred onto the appropriate children’s services.
Anyway, fast forward 21 years…to say our lives have been turned upside down numerous times and back again would be an understatement. With consultants dismissing our concerns along the way, an unbelievable amount of time spent in hospital consultations, nobody wanting to give us a diagnosis or even listen to us, here we are now under the care of Newcastle and Professor Sir Turnbull’s team with our doctor being the amazing Dr Gorman. We finally have the diagnosis of Leigh’s and people that truly understand our struggles.
I feel that we are lucky that Alex is here and able to enjoy some things in life. We are a close knit family and support each other. Alex has made me the person that I am today, and through her we have met many wonderful and inspirational people and families. She is our inspiration and a fighter. She has the most wicked sense of humour, sometimes inappropriately so! One consultant said that she has a special knack of drawing you in. I have to agree; she can wrap anyone around her finger. She is our Alex and we love her more than words can say.
Jess: Ethan’s Story
This week is Metabolic Disorders Awareness Week, so I am going to share a little – however, even finding a profile picture of my little boy, Ethan, to raise awareness is extremely tough. I don’t want to show pictures of him on a life support machine. I want to share pictures of him smiling and happy. I miss him every day and having Metabolic Support UK as a support network really helps me with my grieving some days.
Metabolic disorders aren’t always easy to spot in a person. You can look perfectly normal but your body on the inside is struggling to break down what it needs to for you to be healthy. These disorders are sometimes blind to the naked eye and there are even children and adults out there with metabolic disorders who don’t even know that they have one. When I had my son, I learnt about genetics. I learnt how my little boy couldn’t break down protein in his body, so he had to have drugs to do it for him. I learnt that if these proteins weren’t escaping his body that he would be at risk of more brain damage. Most importantly, I learnt to listen to myself if I knew something wasn’t quite right.
I won’t ever get over losing Ethan, but I will do the right thing by him and that’s to support a charity who deserve every penny that it gets to help other children and adults with metabolic disorders to have a better quality of life. So, please, I know that it’s easy for most people to scroll past my status because they have a healthy family and nothing bad has happened to them but I didn’t think anything bad would happen to my son and my life changed forever when he died. His birth scans were normal and it was only two days after he was born that we found out that he had a metabolic disorder which affects 1 in 80,000. Please take a minute to appreciate all that you have in your life and thank you Metabolic Support UK for all that you do.
Samantha: Bea’s Story
This week is Metabolic Disorders Awareness Week. Loads of people will scroll past this post, thinking that this is nothing to do with them. “It will not affect me,” they think. A few years ago, I would have also been delusional that this would never affect us, but it has and it affects so many people.
Do you know that some people still refuse the Newborn Screening heel prick tests to be carried out, and some countries do not even let you have the choice!! This is crazy. The consequences of these disorders are unimaginable. Please spread awareness. Metabolic Support UK, you have helped me when I saw no hope and when all I saw was darkness. You’re amazing and I would do anything to help support you. Thank you, you’re amazing people.
Jemma: Brooke’s Story
This week is Metabolic Disorders Awareness Week, and we are encouraged to share our story. This is Brooke. She had Citrullinemia type 1. Her liver was missing an enzyme meaning her body couldn’t get rid of toxins, mainly ammonia, which built up at birth and caused brain damage. She also had epilepsy, dystonic movement disorder, pseudomonas, and global development delay. But she always smiled. Even when critically ill, she smiled and laughed. She passed in March 2015 at home in bed unexpectedly. They say she had suffered a major seizure.
I miss her every day, but she was a true inspiration to myself and others and I know that her smile is missed by many.
As her grave says, “a smile that melted every heart, now dancing with the angels.”
Louise: Esmee’s Story
Raising awareness of metabolic conditions is vitally important. Early diagnosis is essential and newborn screening could save so many lives and prevent irreversible damage. During the last 10 months, we have been on an information rollercoaster. The scary part is that we still have to explain Esmee’s condition to healthcare professionals and push for early and fast preventative testing and treatment when she is potentially poorly.
We have had to become experts to a degree in her condition, OTC, but there are many different types of metabolic conditions with their own complex issues and severity. Esmee is amazing and continues to thrive, we don’t take this for granted though.
Hopefully by raising awareness in this way, other families will be able to benefit from early diagnosis.
Rachel: Ava’s Story
Please spread awareness of metabolic disorders and Metabolic Support UK, who do such a fantastic job! Ava has MCADD and I was grateful for the information that Metabolic Support UK provided when we were first learning about being “experts”. MCADD is something that we’ve had to adapt with but, on the whole, it doesn’t stop Ava from her crazy ways. There are many disorders that have more complications and it’s heartbreaking and inspiring hearing about the children and families affected
Tereza: Chanel and Matt’s Story
Two of my children have a metabolic disorder called Homocystinuria (HCU). It is a potentially serious inherited condition. They are unable to break down the amino acid methionine. This causes a build up of methionine and a chemical is then produced called homocystiene. Hence Chanel having a Venus sinus thrombosis and bleed to the brain, and her lenses detached. Matt has physical problems and is unable to eat sometimes due to taking 36 tablets a day.
They are the strongest two I know and I am lucky to call them my children