We are delighted to share another guest post from our friends at Nutricia Metabolics: the leading provider of medical nutrition products and source of dietary information for patients following a low protein diet. Through their regular guest blog, they share the latest news and developments in the area of Inherited Metabolic Disorders along with tasty […]
Continuing our blog series of fundraising ideas, today is brought to you by the letter I! Whether you’re a first time or regular fundraiser, we all need a little inspiration sometimes. So, to give you a helping hand, we’re putting all of our favourite fundraising ideas together in a handy series of blog posts! Ice […]
Over a year ago, we launched our Community Ambassador programme. Our new Ambassadors are doing a great job supporting the Inherited Metabolic Disorders community in their local areas, enabling us to reach many more patients and families, and helping us spread the word by raising awareness and fundraising. Today, meet our Ambassador, Abbie Thompson. “Hi, […]
We are delighted to share another guest post from our friends at Nutricia Metabolics: the leading provider of medical nutrition products and source of dietary information for patients following a low protein diet. Through their regular guest blog, they share the latest news and developments in the area of Inherited Metabolic Disorders along with tasty […]
Being diagnosed with a rare condition can be very overwhelming and life can look very different after your diagnosis. Lorraine shares how her and her family have adapted to life with Tyrosineamia Type 1. My Little Tyrosinaemia Trooper – Adapting to Life with a Rare Metabolic Condition “Those who don’t believe in magic will […]
When you live with an Inherited Metabolic Disorder, big changes such as a move to a new school or town can seem daunting. Here, Rhian shares how she moved to Sweden whilst living with MCADD. “During the summer of 2017, I got my driving licence, graduated with my bachelor’s degree and took a one-way flight […]
One of the key facts of Inherited Metabolic Disorders are that they are inherited and part of your genetic makeup. When you discover that you or your child has an Inherited Metabolic Disorder, you may look into genetic testing to see if you’re a carrier of the condition and how this might have an impact […]
Last week, our Young Persons Project Officer, Sally, travelled down for the opening of the 1 in 17 campaign in London. This campaign aimed to raise awareness of rare diseases in the UK through the stories of 17 people and art, as Sally explains. “The “I am Number 17” campaign was created by Takeda Pharmaceutical […]
Being diagnosed with a rare condition can be very overwhelming and life can look very different after your diagnosis. Lorraine shares the story of her son’s diagnosis and their life with Tyrosineamia Type 1. This is Harry, our little Tyrosineamia Trooper. Harry (now aged 5) is the youngest of our three boys and was born […]
We are delighted to share another guest post from our friends at Nutricia Metabolics: the leading provider of medical nutrition products and source of dietary information for patients following a low protein diet. Through their regular guest blog, they share the latest news and developments in the area of Inherited Metabolic Disorders along with tasty […]
Continuing our blog series of fundraising ideas, today is brought to you by the letter H! Whether you’re a first time or regular fundraiser, we all need a little inspiration sometimes. So, to give you a helping hand, we’re putting all of our favourite fundraising ideas together in a handy series of blog posts! Horse […]
We are delighted to share another guest post from our friends at Nutricia Metabolics: the leading provider of medical nutrition products and source of dietary information for patients following a low protein diet. Through their regular guest blog, they share the latest news and developments in the area of Inherited Metabolic Disorders along with tasty […]
Continuing our blog series of fundraising ideas, today is brought to you by the letter G! Whether you’re a first time or regular fundraiser, we all need a little inspiration sometimes. So, to give you a helping hand, we’re putting all of our favourite fundraising ideas together in a handy series of blog posts! G […]
As another Christmas approaches us, our guest blogger, Chloe, reflects on her experiences of the holiday as a young child with PKU. “Growing up with an Inherited Metabolic Disorder can be challenging at times – you can’t always enjoy even the simplest of things in the same way as everyone else. When I think back to […]
Last November, we launched our Community Ambassador programme. Our new Ambassadors are doing a great job supporting the Inherited Metabolic Disorders community in their local areas, enabling us to reach many more patients and families. They are also helping us spread the word by raising awareness and fundraising. Today, meet our Ambassador, Hannah Smith! Hello, […]
We are delighted to share another guest post from our friends at Nutricia Metabolics: the leading provider of medical nutrition products and source of dietary information for patients following a low protein diet. Through their regular guest blog, they share the latest news and developments in the area of Inherited Metabolic Disorders, along with tasty […]
Continuing our blog series of fundraising ideas, today is brought to you by the letter F! Whether you’re a first time or regular fundraiser, we all need a little inspiration sometimes. So, to give you a helping hand, we’re putting all of our favourite fundraising ideas together in a handy series of blog posts! Food […]
We are delighted to share another guest post from our friends at Nutricia Metabolics: the leading provider of medical nutrition products and source of dietary information for patients following a low protein diet. Through their regular guest blog, they share the latest news and developments in the area of Inherited Metabolic Disorders, along with tasty […]
This year’s conference was extra special, as it was also the date of our first NextGen Conference! We were delighted to welcome young people aged 12-25 to come and join our Young Person’s Project Officer, Sally, and a variety of other speakers, to speak about their condition and ways they could manage growing up with […]
This year’s Annual Conference was held in Birmingham on Saturday 12th October 2019. Over 150 patients, families, healthcare professionals, pharmaceutical professionals and patient organisations joined us for the day to demystify the ins and outs of how patients can access specialist services and treatments. Our Annual Conference is the highlight of our year, as we […]
Continuing our blog series of fundraising ideas, today is brought to you by the letter E! Whether you’re a first time or regular fundraiser, we all need a little inspiration sometimes. So, to give you a helping hand, we are putting all of our favourite fundraising ideas together in a handy series of blog posts! […]
We are delighted to share another guest post from our friends at Nutricia Metabolics: the leading provider of medical nutrition products and source of dietary information for patients following a low protein diet. Through their regular guest blog, they share the latest news and developments in the area of Inherited Metabolic Disorders, along with tasty […]
At Metabolic Support UK, we make it our mission to raise as much awareness as possible of Inherited Metabolic Disorders amongst the public and healthcare professionals. Recently, Team Metabolic’s Jess and Julie went to Northern General Hospital in Sheffield to learn about their Patients as Educators project, as Jess explains more about. “On 20th August […]
We are delighted to share another guest post from our friends at Nutricia Metabolics: the leading provider of medical nutrition products and source of dietary information for patients following a low protein diet. Through their regular guest blog, they share the latest news and developments in the area of Inherited Metabolic Disorders, along with tasty […]
Last November, we launched our Community Ambassador programme. We now have 8 amazing Ambassadors, who are supporting the Inherited Metabolic Disorder community in their local areas, enabling us to reach many more patients and families. They are also helping us spread the word by raising awareness and fundraising. Today, we’d like you to meet our […]
Without our amazing fundraisers, we wouldn’t be able to help our special community and have an active role in supporting new and life-changing treatments for our families and patients. At the end of July, Bea and Mum, Harriet, climbed Snowdon to raise awareness of Inherited Metabolic Disorders and fundraise, to help us support more and […]
Friendship is very important to Metabolic Support UK. We see the members of our community as very special friends to us, and look to support our patients and families in every way we can. We similarly make it our mission to connect our community through multiple projects and to reduce the isolation often found in […]
We are delighted to share another guest post from our friends at Nutricia Metabolics: the leading provider of medical nutrition products and source of dietary information for patients following a low protein diet. Through their regular guest blog, they share the latest news and developments in the area of Inherited Metabolic Disorders, along with tasty […]
A couple of weeks ago, Team Metabolic’s Young Person’s Project Officer, Sally, got the opportunity to go to Vienna to attend Summer Training for Young Patient Advocates led by the European Patients’ Forum, to learn more about how young people can be the best patient advocates for their condition and how we can ensure their […]
This year’s Metabolic Disorders Awareness Week took place from Monday 1st – Sunday 7th July 2019. This year we continued with our #MetabolicMile campaign, asking you to walk, skip, cycle, swim or space hopper a mile to show your support for patients and families living with Inherited Metabolic Disorders. Once again, we were overwhelmed by […]
When you have an Inherited Metabolic Disorder, going on holiday can be a little more complicated with having to consider transporting medication, supplements and managing your condition in a new place! This summer, our guest blogger, Chloe Easton (who has Phenylketonuria (PKU)), has been holidaying in Cornwall for a whole month! In the third part […]
We are delighted to share another guest post from our friends at Nutricia Metabolics: the leading provider of medical nutrition products and source of dietary information for patients following a low protein diet. Through their regular guest blog, they share the latest news and developments in the area of Inherited Metabolic Disorders, along with tasty […]
When you have an Inherited Metabolic Disorder, going on holiday can be a little more complicated with having to consider transporting medication, supplements and managing your condition in a new place! This summer, our guest blogger, Chloe Easton (who has Phenylketonuria (PKU)), is holidaying in Cornwall for a whole month! In the second part of […]
Continuing our blog series of fundraising ideas, today is brought to you by the letter D! Whether you’re a first time or regular fundraiser, we all need a little inspiration sometimes. So, to give you a helping hand, we are putting all of our favourite fundraising ideas together in a handy series of blog posts! […]
When you have an Inherited Metabolic Disorder, going on holiday can be a little more complicated with having to consider transporting medication, supplements and managing your condition in a new place! This summer, our guest blogger, Chloe Easton (who has Phenylketonuria (PKU)), is travelling to Cornwall for a whole month! In the first part of […]
We are delighted to share another guest post from our friends at Nutricia Metabolics: the leading provider of medical nutrition products and source of dietary information for patients following a low protein diet. Through their regular guest blog, they share the latest news and developments in the area of Inherited Metabolic Disorders, along with tasty […]
Metabolic Support UK are proud to support patients and families with Inherited Metabolic Disorders but we couldn’t do it without the help of our community and your efforts to fundraise and raise awareness of Inherited Metabolic Disorders. From your help with fundraising, we can continue to expand our services to support more patients and families […]
On Sunday 28th April, it was the London Marathon! Every year, Metabolic Support UK receive 15 places for the London Marathon. The London Marathon is our biggest fundraiser every year and allows us to continue providing bespoke support to our community. This year, we in fact had 19 places, due to a few deferred places […]
In November, we launched our Community Ambassador programme. We recruited 8 amazing Ambassadors, who are supporting the Inherited Metabolic Disorders community in their local areas, enabling us to reach many more patients and families. They are also helping us spread the word by raising awareness and fundraising. In this blog post, we’d like you to […]
We are delighted to share another guest post from our friends at Nutricia Metabolics: the leading provider of medical nutrition products and source of dietary information for patients following a low protein diet. Through their regular guest blog, they share the latest news and developments in the area of Inherited Metabolic Disorders, along with tasty […]
Recently, Metabolic Support UK launched a newborn screening app, which aims to give information on the six Inherited Metabolic Disorders tested via the heel prick test. The newborn screening app is there to reduce anxieties amongst parents, by giving new parents more information on their diagnosis and to show the support Metabolic Support UK can […]
Over the past year, Team Metabolic has gone through a lot of changes. We have doubled our staff; started new projects; and all under a new name! Part of those changes has been to form a close link with the University of Chester, where we have been able to recruit interns and volunteers, to support […]
On Sunday 28th April, 19 supporters of Metabolic Support UK will be taking to the streets of London for the London Marathon! We are always in awe of our incredible marathon runners and their commitment to train, run and fundraise in support of Metabolic Support UK, whatever the weather! In this blog series, we want […]
On Sunday 28th April, 19 supporters of Metabolic Support UK will be taking to the streets of London for the London Marathon! We are always in awe of our incredible marathon runners and their commitment to train, run and fundraise in support of Metabolic Support UK, whatever the weather! In this blog series, we want […]
At Metabolic Support UK, we have a number of London Marathon places to offer our supporters each year. In return for a marathon place, our runners agree to fundraise for us! Our London Marathon runners have done so many different fundraisers over the years and this year, our London Marathon runners, Laura and Kate, decided […]
On Sunday 28th April, 19 supporters of Metabolic Support UK will be taking to the streets of London for the London Marathon! We are always in awe of our incredible marathon runners and their commitment to train, run and fundraise in support of Metabolic Support UK, whatever the weather! In this blog series, we want […]
We are delighted to share another guest post from our friends at Nutricia Metabolics: the leading provider of medical nutrition products and source of dietary information for patients following a low protein diet. Through their regular guest blog, they share the latest news and developments in the area of Inherited Metabolic Disorders, along with tasty […]
On Sunday 28th April, 19 supporters of Metabolic Support UK will be taking to the streets of London for the London Marathon! We are always in awe of our incredible marathon runners and their commitment to train, run and fundraise in support of Metabolic Support UK, whatever the weather! In this blog series, we want […]
On Saturday 19th January, the Keighley family brought friends, family and their local community together to fundraise for Metabolic Support UK and to celebrate the life of Anna, their daughter, who very sadly died of GM1 Gangliosidosis, aged 1. They organised a classical concert music, which proved to be a huge success, as Sarah, Anna’s […]
From August 2017, children and adults with a rare inherited metabolic bone disease called Hypophosphatasia (HPP) have been able to access a potentially life-enhancing drug called asfotase alfa (Strensiq). The drug asfotase alfa was previously only recommended for use in babies by NICE in draft guidance, as evidence showed it could be life-saving. The Managed […]
We are delighted to share another guest post from our friends at Nutricia Metabolics: the leading provider of medical nutrition products and source of dietary information for patients following a low protein diet. Through their regular guest blog, they share the latest news and developments in the area of Inherited Metabolic Disorders, along with tasty […]
Yesterday, our Chief Executive, Lindsay Weaver, attended the Specialised Healthcare Alliance quarterly meeting to hear Jon Stewart, Director of Specialised Commissioning, talk about plans to integrate more specialised services at a local level and potential changes to the Clinical Reference Groups. Hear Lindsay’s thoughts on how these changes might impact patients and how Metabolic Support […]
On Sunday 28th April, 19 supporters of Metabolic Support UK will be taking to the streets of London for the London Marathon! We are always in awe of our incredible marathon runners and their commitment to train, run and fundraise in support of Metabolic Support UK, whatever the weather! In this blog series, we want […]
On Sunday 28th April, 19 supporters of Metabolic Support UK will be taking to the streets of London for the London Marathon! We are always in awe of our incredible London Marathon runners and their commitment to train, run and fundraise in support of Metabolic Support UK, whatever the weather! In this blog series, we […]
We are delighted to share another guest post from our friends at Nutricia Metabolics: the leading provider of medical nutrition products and source of dietary information for patients following a low protein diet. Through their regular guest blog, they share the latest news and developments in the area of Inherited Metabolic Disorders, along with tasty […]
It can be a nightmare trying to avoid bugs and colds in winter. And it can be even trickier when you or your child has a low immune system. In the most recent issue of our Metabolic Matters magazine, we shared some tips on staying well this winter, which we also want to share with […]
Christmas and the New Year are over and life is starting to get back to normal. Over the festive season, you may have come up with a few New Year’s resolutions. We have a few of our own and some suggestions for you, if you’re looking for more ways to support Metabolic Support UK this […]
It’s been quite a year for the Metabolic Support UK team! Many changes have been made but most importantly, we have been able to reach more and more patients and families this year with a new more inclusive name; a larger team to travel across the UK to meet patients and families; and an incredibly […]
We are delighted to share another guest post from our friends at Nutricia Metabolics: the leading provider of medical nutrition products and source of dietary information for patients following a low protein diet. Through their regular guest blog, they share the latest news and developments in the area of Inherited Metabolic Disorders, along with tasty […]
Continuing our blog series of fundraising ideas, today is brought to you by the letter D! Whether you’re a first time or regular fundraiser, we all need a little inspiration sometimes. So, to give you a helping hand, we are putting all of our favourite fundraising ideas together in a handy series of blog […]
Our 2018 Patient Day took place at Manchester Science Museum. Around 60 families and patients with Inherited Metabolic Disorders gathered to meet each other; hear about our new support services; and explore the incredible Manchester Science Museum! After picking up their name badges, goodie bags and fuelling up on tea and coffee, our Patient Day […]
From Monday 15th – Sunday 21st October 2018 it is National Baking week! National Baking Week is a great week to celebrate the cherry bakewell, the chocolate brownie and the unforgettable gooey chocolate chip cookie! However, if you have an Inherited Metabolic Disorder, you may not be able to indulge in all these bakes, as […]
October has arrived – where has the year gone! Despite the year rapidly marching on, there is still time for a social media challenge! This October, we’re challenging you to a 32-day photo challenge! For this challenge, we’re asking you to take a picture of a different theme each day, and to share your take […]
This week on Friday 21st September, it’s Jeans for Genes Day! This day is the annual fundraising event for Genetic Disorders UK, which aims to raise awareness about genetic disorders and the impact they have upon families and patients. Get involved by sharing your story and showing off your best denim! Who is Genetic Disorders UK? […]
We are delighted to share another guest post from our friends at Nutricia Metabolics: the leading provider of medical nutrition products and source of dietary information for patients following a low protein diet. Through their regular guest blog, they share the latest news and developments in the area of Inherited Metabolic Disorders, along with tasty […]
Kids are now back to school and soon enough university students will go back to their studying as well! For many young people, the step between university and high school can be huge. But for university students with an Inherited Metabolic Disorder, it can be an even bigger step with there being even more things to […]
Here at Metabolic Support UK, we are blessed to have some wonderful supporters. During Metabolic Disorders Awareness Week 2018, we launched our Metabolic Mile campaign. We were amazed by how many of you took on a Metabolic Mile to show support and solidarity for families and patients living with Inherited Metabolic Disorders. One couple, Sam […]
Leaving your child in someone else’s care is a stressful time for any parent. But leaving a child with an Inherited Metabolic Disorder at the school gate comes with an additional set of worries and concerns. In this blog post, teacher and mum, Alison Hardy, shares her experience of preparing her daughter Poppy for […]
NHS England and the Scottish Medicines Consortium agree to reimburse Ravicti® (glycerol phenylbutyrate) for the management of Urea Cycle Disorders (UCDs) Ravicti is the first liquid formulation of phenylbutyrate, which is virtually tasteless and odourless. This treatment, a more palatable alternative to sodium phenylbutyrate will be provided via specialised metabolic commissioning centres across England and Scotland for the long-term management Urea […]
We are delighted to share another guest post from our friends at Nutricia Metabolics: the leading provider of medical nutrition products and source of dietary information for patients following a low protein diet. Through their regular guest blog, they share the latest news and developments in the area of Inherited Metabolic Disorders, along with tasty […]
Today, the 30th July, it is International Friendship Day. To celebrate this special day, we are launching our new Friendship Scheme! Join our Special Community: The Friendship Scheme is a new way to get involved with Metabolic Support UK and includes lots of new benefits! Our Friends are vital in helping us achieve our […]
On Friday 25th May 2018, Jess Allamby, an incredible supporter of Metabolic Support UK, held a rainbow ball in memory of her son Ethan and to raise money for Metabolic Support UK. The Metabolic Support UK team were invited to attend this wonderful event and were so pleased to be there and to support Jess. […]
It’s just over a week since Metabolic Disorders Awareness Week 2018! For Metabolic Disorders Awareness Week, we had plenty of plans on the cards! From our parliament event, where we officially relaunched as Metabolic Support UK, to the hundreds of people who took on the Metabolic Mile, it was a very exciting week! Metabolic […]
For this year’s Metabolic Disorders Awareness Week, we encouraged our fantastic metabolic community to take on a Metabolic Mile to raise awareness, have fun, and make the most of the glorious sunshine! Charlotte and Richard tell us all about their Metabolic Mile with their one year old daughter Emily, and why raising awareness of Inherited Metabolic […]
We are delighted to share another guest post from our friends at Nutricia Metabolics; the leading provider of medical nutrition products and source of dietary information for patients following a low protein diet. Through their regular guest blog, they share the latest news and developments in the area of Inherited Metabolic Disorders, along with tasty […]
Recently we told you about our campaign for Metabolic Disorders Awareness Week 2018: the #MetabolicMile! For this, we’re asking everyone to complete a mile in any way of their choice, to show solidarity and support for families and patients living with Inherited Metabolic Disorders. If you’re still unsure of whether you want to take on […]
Metabolic Disorders Awareness Week is coming up soon! This year’s awareness week is taking place from Monday 2nd July to Sunday 8th July. One of the many things Metabolic Support UK have planned for the week is the Metabolic Mile, to help raise awareness about Inherited Metabolic Disorders and how they affect patients and families. […]
1st – 7th June is National Volunteers’ Week. As a patient organisation, we really appreciate those who endlessly work to support us. Across the UK, it is estimated that 14.2 million people volunteer once a month. These volunteers also tend to do, on average, around 11.6 hours of volunteering work a month. Volunteers help […]
We are delighted to share another guest post from our friends at Nutricia Metabolics; the leading provider of medical nutrition products and source of dietary information for patients following a low protein diet. Through their regular guest blog, they share the latest news and developments in the area of Inherited Metabolic Disorders, along with tasty […]
Introducing Metabolic Support UK (formerly known as Climb) As you may know, we have been working hard over the past year, listening and reviewing all of the services that we offer and strengthening our understanding of the key issues for patients living with Inherited Metabolic Disorders (IMDs), and their families, today. This consultation, including several […]
Sunday 22nd April 2018 saw the 38th London Marathon take place. Around 41,000 runners took to London’s streets to complete the 26.2 mile course of the world’s most iconic Marathon! And 15 of those fantastic runners made up Team Climb! Despite the race being the hottest in London Marathon history (at 24 degree heat!), our […]
We are delighted to share another guest post from our friends at Nutricia Metabolics; the leading provider of medical nutrition products and a source of dietary information for patients following a low protein diet. Through their regular guest blog, they share the latest news and developments in the area of Inherited Metabolic Disorders, along with […]
Continuing our blog series of fundraising ideas, today is brought to you by the letter C! Whether you’re a first time or regular fundraiser, we all need a little inspiration sometimes. So, to give you a helping hand, we are putting all of our favourite fundraising ideas together in a handy series of blog posts! […]
With two months to go until the London Marathon, our 17 fantastic Team Climb gold bond holders are busy planning their training and fundraising activities. Melvyn has agreed to share his training journey as he prepares for the big day on 22nd April 2018, follow his story here! Eight weeks away from the start line […]
We are delighted to share another guest post from our friends at Nutricia Metabolics; the leading provider of medical nutrition products and a source of dietary information for patients following a low protein diet. Through their monthly guest blog, they share the latest news and developments in the area of Inherited Metabolic Disorders, along with tasty […]
With four months to go until the London Marathon, our 17 fantastic Team Climb gold bond holders are busy planning their training and fundraising activities. Melvyn has agreed to share his training journey as he prepares for the big day on 22nd April 2018, follow his story here! This will be my training blog for […]
We are delighted to share another guest post from our friends at Nutricia Metabolics; the leading provider of medical nutrition products and a source of dietary information for patients following a low protein diet. Through their monthly guest blog, they share the latest news and developments in the area of Inherited Metabolic Disorders, along with tasty […]
Ian is 30 and lives with A-Typical Familial Partial Lipodystrophy. Through social media, he met Natalie who shared the same rare mutation of the condition. Despite Ian living in the UK and Natalie in the USA, they formed a very close bond. Natalie sadly passed away this year, aged 40. In this moving post, Ian pays […]
Over 150 patients, families and professionals attended the latest Climb Annual Conference which took place on Saturday 14th October 2017 in Birmingham. Our conferences are a way for us to engage key professionals and partners to share with us the latest developments in the world of Inherited Metabolic Disorders, as well as providing the opportunity to […]
Crunching leaves. Carved pumpkins. Giggling children. This can only mean one thing – it’s Hallowe’en! At Nutricia Metabolics we love celebrating with food. Our feature recipes this month, Mixed Fruit Brack and Carrot Cake, are a true taste of Hallowe’en. Our Low Protein Mixed Fruit Brack is delicious served on its own or toasted with […]
Reece Blelloch! We were absolutely blown away by the amazing response to our very first Metabolic Hero campaign! What started off as a seed of an idea; to provide a platform for you to tell us all about the special people who make a difference, and celebrate these unsung heroes within our metabolic community, turned […]
We are pleased to confirm the itinerary for the Climb Annual Conference on 14th October 2017 at the Macdonald Burlington Hotel in Birmingham. It’s going to be an informative day with plenty of opportunities to meet and get to know other families, hear from a range of speakers and help us to shape our services […]
A huge thank you to our 7 Team Climb cyclists Marc Wittenberg, Kevin Hancox, Kate Jenkins, Emily Cullum, Jade Devonshire, Andy Law and Jaq Pearce who took part in the RideLondon 46/100 event on 30th July 2017. Not only did they take on this fantastic challenge for Climb, but together they raised over £4,700! The […]
Going from school to university can mean living independently for the first time, moving to a new town, city (or even country!), meeting lots of new people and experiencing the ‘student lifestyle’ of studying and partying in equal measure! Making all of these changes when you have a medical condition to manage brings extra challenges, […]
After hearing the latest news on this case, Charlie and his parents are in the thoughts of everyone at Climb. Our thoughts also go out to all those involved in the care of Charlie. Climb exists to raise awareness of Inherited Metabolic Diseases including Mitochondrial Disease. It is important that we continue to collaborate with […]
M&Co in Nantwich held a fantastic fashion show in aid of Climb on Wednesday 5th July, which was attended by over 50 people including the Mayor of Crewe, Cllr Diane Yates. Models, including staff, customers and their families and friends from the local community (and our very own founder, Lesley Greene) took a turn on […]
July 2017 – After a 2 year process Climb is pleased that NICE has published draft guidance recommending the drug Strensiq (also known asfotase alfa) for people with paediatric-onset hypophosphatasia. The funding agreement between NHS England and Alexion Pharma is based on a 5-year Managed Access Agreement which means that patients with pediatric onset hypophosphatasia […]
100 patients, families and professionals came together on Saturday 1st July to discuss the latest developments in X-Linked Hypophosphatemia at a special event hosted by Climb in collaboration with Central Manchester Healthcare Trust. XLH – X-Linked Hypophosphatemia – is a genetic disorder that affects about one in 20,000 people. Typically, it is passed from one […]
Meet Cooper. Cooper is a strong, three year old boy. If you saw Cooper on the street you would not know that he battles a life threatening condition. At four and a half months old Cooper was vomiting a lot and we assumed that he had an ear infection or strep throat. I took him […]
This event is now fully booked X-Linked Hypophosphataemia (XLH) Patient and Family Meeting Climb in collaboration with Central Manchester Healthcare Trust Radisson Blu Airport Hotel (Manchester) Saturday 1st July 2017 9am to 4pm A unique and exciting event, packed with speakers discussing the latest innovations in XLH, along with opportunities to network with other families. […]
We are delighted to share another guest blog from our friends at Nutricia Metabolics! With the sun finally making an appearance, it’s time to switch your low protein lunches for something fresh and colourful – our featured recipe this month is a low protein summer salad that you can mix and match 3 ways to […]
About the 100,000 Genomes Project The project aims to sequence 100,000 whole genomes from about 70,000 people. Participants are NHS patients with certain types of cancer and patients with rare diseases plus their families. With their consent their genomes will be sequenced and linked to details about an individual’s medical condition. Doing this may help […]
We love to hear about all the fantastic fundraising activities and events that are held by our amazing community. From bake sales to wing-walking, we are constantly in awe of the efforts that people go to for Climb. As a small team with a huge job supporting families worldwide with 445 Inherited Metabolic Disorders, we […]
On Thursday 11th May 2017, we were honoured to attend the Mayor Making Ceremony at South Cheshire College to watch Councillor Diane Yates receive the Chains of Office and Civic Insignia, becoming the fifth Mayor of Crewe. With an interest in supporting homegrown charities, and improving the lives of children, Cllr Yates attended Climb’s Open […]
The Department of Health and NHS England recently made a commitment to develop an implementation plan for the UK Strategy for Rare Diseases in England, which is a really positive outcome for those affected by Inherited Metabolic Disorders. With the General Election taking place on 8th June, we want to make sure that your voices and needs […]
Our exceptional runners have kindly shared their individual stories of why they took part in this extraordinary event for Climb. We would like to thank Team Climb for all of their massive fundraising efforts, hard work and enthusiasm! Jessica’s Story “I ran the 2016 London Marathon for Climb and absolutely loved the atmosphere and seeing the dedication […]
CONGRATULATIONS TEAM CLIMB 2017 – YOU DID IT!! On Sunday 23rd April, our 18 amazing Climb Golden Bond holders completed the London Marathon! The whole day was incredible with an electric atmosphere, and we couldn’t have asked for more from Team Climb. This fantastic, inspirational group of people spent many months training, overcoming injuries and […]
We know some of the challenges that can arise with travelling when you have, or care for someone with, an Inherited Metabolic Disorder. With the holiday season approaching, we asked some of our families to tell us of their experiences with advice and tips for planning and taking a holiday and we received some really valuable feedback which we will share […]
We are delighted to share another guest blog from our friends at Nutricia Metabolics! With Easter just around the corner, we have been trying out some new springtime recipes – see our recipe of the month for the perfect addition to your Easter menu! Also this month, we are very pleased to announce the launch […]
The Minister of State for Health, Philip Dunne MP, has announced that NHS England will develop an implementation plan by the end of the year for the commitments outlined in the UK Strategy for Rare Diseases. For those affected by Inherited Metabolic Disorders in England this is a fantastic result and ensures that the Government will […]
Easter is just around the corner and it can be a tricky time of year for families with children that can’t eat chocolate eggs. No-one likes to feel left out, so we have searched the web and rounded up 10 of our favourite chocolate-free Easter gifts: 1.Lego Easter Chick ~ £12.95 from Amazon […]
The glitz and glamour of Las Vegas came to Crewe Hall Cheshire in Cheshire on Saturday 25th February 2017, for the inaugural fundraising charity ball of the Rotary Club of Bentley Cheshire in aid of Climb and Young Minds. The evening began with a drinks reception, the bubbles and laughter flowed! Everyone really embraced the red and black […]
We are delighted to share the first of our monthly guest blogs from our friends at Nutricia Metabolics! Nutricia are the leading provider of medical nutrition products and a great source of dietary information and advice for families following a low protein diet. Through their monthly guest blog, they will be sharing their latest news […]
The fourth of August 2016 changed our lives forever. At 04.04am Thomas Wesley Jackson was born and before we knew it we were going home that evening with our new baby. The days that followed were scary, amazing, and sometimes overwhelming. As first time parents we were trying and doing our best to love, care […]
Continuing our Day in the Life feature, giving an insight into the work we do here at Climb, and showcasing the different roles that the team performs, their aspirations, celebrations and the challenges that they face. Today we are putting our Senior Family Advisor Rachel Evans in the spotlight! Many of you will know Rachel as she is […]
An Update on Mitochondrial Donation – Dr Lindsey Butterworth March 2017 Everything we do requires energy. Whether we are walking the dog, running to catch a bus or sitting reading this article, the cells in our body constantly need energy to work and stay alive. Nearly all our cells contain small structures known as mitochondria, […]
Climb has appealed the NICE Review Committee decision not to approve the treatment of severely affected juvenile and adult patients with the treatment asfotase alpha. Whilst Climb is extremely pleased that the treatment will be available for all perinatal and infantile cases of the disorder under the Managed Access Agreement criteria, they are disappointment […]
Tuesday 28th February saw the 10th annual Rare Disease Day; a day for raising awareness of the thousands of rare diseases that affect 3.5 million people in the UK alone. With the theme of research, and the slogan, ‘With research, the possibilities are limitless’, Rare Disease Day 2017 called for researchers, universities, students, companies, policy […]
Poppy is our youngest daughter. She is a two year old little girl born on bonfire night 2013 and at Christmas 2015 she was diagnosed with Hyperornithinemia Hyperammonemia Homocitrullinuria or HHH. In the beginning Poppy developed well, putting weight on as expected. She smiled, rolled over, crawled and stood when expected and was a ‘well’ […]
Continuing our blog series of fundraising ideas, today is brought to you by the letter B! Whether you’re a first time or regular fundraiser we all need a little inspiration sometimes, so to give you a helping hand we are putting all of our favourite fundraising ideas together in a handy series of blog posts! […]
Continuing our Day in the Life feature, giving an insight into the work we do here at Climb, and showcasing the different roles that the team performs, their aspirations, celebrations and the challenges that they face. Today we are putting our Development and Engagement Co-ordinator Julie Kempster in the spotlight! With her bubbly personality and fantastic baking […]
Our daughter Beatrix was born a few days early and was 5lb 8oz. The midwives were very happy with her and we were sent home the same day. Being our first child we were very anxious and worried about all the normal things new parents do. I can remember when the midwife came to carry […]
John MacDonald has undertaken some amazing challenges for Climb this year! On 3rd September, John tackled the Man vs Mountain event: a 22 mile race from Caernarfon Castle to the summit of Snowdon with a series of punishing obstacles in Dinorwic Quarry thrown in for a cool down! In preparation for this mighty challenge, John […]
We are often contacted by patients who have been denied access to treatments from which they feel they could benefit. Here are some practical things that you could consider doing to raise this issue and campaign for change. Contact your local MP As elected representatives in Parliament, MPs are able to take up issues on […]
With advent looming, it’s time to start getting excited about opening up those 24 little windows…but what if your child can’t eat chocolate? Luckily, all sorts of alternative calendars are springing up each year, with everything from candles and jewellery to coffee and pork scratchings! We’ve rounded up 9 of our favourite non-chocolate advent calendars […]
Here at Climb HQ, we get loads of calls from lovely people who want to raise money to support us, but don’t know where to start. Whether you’re a first time or regular fundraiser we all need a little inspiration sometimes, so to give you a helping hand we are putting all of our favourite […]
Over 100 people attended the latest Climb conference; Transition and Adult Care, which took place on Saturday 8th October 2016 at The Studio, Birmingham. We understand that the transition from paediatric to adult care is a worrying time for patients and their families, so we developed a full programme to open discussions and help make this […]
NICE has published draft guidance recommending the drug asfotase alfa for children with perinatal- and infantile-onset hypophosphatasia (HPP) – a very rare inherited condition affecting between one and seven babies each year in England. The full draft guidance can be accessed here. In summary: Asfotase alfa is recommended as an option for treating the bone manifestations […]
We are delighted to announce the Las Vegas Charity Ball, at Crewe Hall Cheshire on Saturday 25th February 2017! This exciting charity ball is being organised and hosted by the Rotary Club of Bentley Cheshire; a Satellite club of Crewe & Nantwich Weaver Rotary, which was inaugurated in July 2016. The Rotary Club of Bentley Cheshire […]
Over 50 people attended a charity fashion show at M&Co on High Street Nantwich on Thursday 15th September, which raised more than £400 for Climb. Models, including staff, customers and their families and friends from the local community, took a turn on the catwalk, showcasing the latest seasonal fashions from the ladies, men’s and children’s […]
Welcome to our new Day in the Life feature which gives an insight into the work we do here at Climb HQ, showcasing the different roles that the team performs, their aspirations, celebrations and the challenges that they face. We’re kicking off the series by putting our Research and Information Officer Helen Morris in the spotlight! […]
Saturday night favourite the X Factor hit our screens at the weekend, and one singer hoping for the much coveted ‘four yeses’ was Rebekah Ryan from Tamworth who tragically lost her son when he was just three years old. Rebekah opened up to the judges about the heartbreaking loss of her first son Ethan, who sadly passed away after suffering […]
Have you been inspired by the Olympics and fancy taking on an amazing challenge? Applications are now open for Golden Bond places for two fantastic events in 2017! Virgin Money London Marathon – 23rd April 2017 Think 26.2 miles of iconic London landmarks, cheering crowds, an electric atmosphere, team camaraderie, fabulous support from Climb HQ […]
When I was asked if I could note some thoughts on my recent London Marathon experience (what do you mean, I haven’t mentioned it?), I initially struggled to think what would be of interest to people who would read them. But upon reflection maybe, just maybe, someone will sit there and think “I can do […]
Emily tells us of her 2016 London Marathon experience. Let’s just say, it wasn’t as easy as I thought it would be! In June 2015, I foolishly thought that because I was able to run half marathons, that a full marathon wouldn’t be that difficult! ……..Naive, foolhardy and over confident. I was ecstatic to be […]
A New PK Deficiency Resource is available here for families and professionals: www.KnowPKDeficiency.com
MCADD families belong to what is now, by far, our largest group of families. Since the addition of MCADD to the screening programme in 2010, the number of MCADD families has increased and over time so has the need for a more varied spectrum of support. In order to ensure that we are providing services […]
To celebrate Metabolic Disease Awareness Week, supporters of Climb took over social media, with over 360 #metabolicselfies shared! It is estimated that each person has between 200 and 300 followers on Facebook. So, with 360 selfies shared, and an average of 250 followers each, around 90,000 people will have learnt a little bit about what a […]
RareConnect is a safe, easy to use platform where rare disease patients, families and patient organisations can develop online communities and conversations across continents and languages. RareConnect partners with the world’s leading rare disease patient groups to enable families and patients to join discussions, share stories and knowledge, ask questions, meet others, and access resources. […]
Climb would like to say a massive thank you to all those families and professionals who joined us on the 4th June for our first Urea Cycle Disorder event. We had over 50 people join us for a really interesting day which saw the launch of the RareConnect network, updates on a potential new […]
Last month saw the 1st birthday of BreathDX a UK company driving the design and development a system to measure ammonia levels in IEM patients from their breath rather than blood. Thanks to the help from the CLIMB community BreathDX now have over £1m from UK funding bodies to develop and bring the AmBeR IEM […]