NICE has published draft guidance recommending the drug asfotase alfa for children with perinatal- and infantile-onset hypophosphatasia (HPP) – a very rare inherited condition affecting between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The full draft guidance can be accessed here.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 of hypophosphatasia, only: in people with perinatal- and infantile-onset disease and for the duration of, and within the conditions set out in, the proposed managed access agreement.
Asfotase alfa is not recommended for treating the bone manifestations of hypophosphatasia in children with juvenile-onset disease.
Asfotase alfa is not recommended for treating the bone manifestations of hypophosphatasia in adults with juvenile-onset disease.
Climb has been patient organisation consultee in the UK Government NICE process – assessing the drug afostase alfa for people with HPP. The Brittle Bone Society have also fully supported this process.
Climb has represented patients of ALL ages with HPP from families with newborns through to adults living with the condition. It is our aim to continue to do this in view of the latest outcome. Climb will continue to work in partnership with all stakeholders to get the best possible results for patients and their families.
Lindsay Weaver, Climb’s Executive Director says:
“Whilst we are extremely pleased that asfotase alpha is recommended for children with perinatal and infantile-onset hypophosphatasia, we are disappointed that is not recommended for those where HPP appears later in childhood or in adults. These forms of the condition can have a severe impact on the lives of those affected.
As official consultee representing patients with HPP of all ages, We do feel that the criteria for starting and stopping treatment with asfotase alfa in the managed access agreement did identify those who would benefit the most within this group and will provide a thorough response to offer further assurance to NICE on this.”
The deadline for responding to the recommendation closed on 13th October 2016 and we await the final decision. The official response of Climb and the Brittle Bone Society can be read here: OFFICIAL RESPONSE – HPP
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 has chosen to support Climb and the Alex Staniforth Adversary Fund (fundraising for Young Minds) as two local causes who are working to improve the lives of children and young people:
This will be a fantastic evening at a wonderful venue, with dinner, dancing, casino, charity auction, live entertainment including special guest Rebekah Ryan Music and all the glamour of Las Vegas!
Tickets are £50 each or £500 for a table of 10. For more information or to purchase tickets please contact firstname.lastname@example.org
Many thanks to the Rotary Club of Bentley Cheshire for organising and hosting this event in aid of ClimbHQ and Young Minds.
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 collections.
The event was organised by Penny Lewis, Store Manager at the Nantwich branch of M&Co, after discussions with Lesley Greene, the founder of Climb.
Penny said “We hold a fashion show twice a year and they are always well supported events and a lot of fun to do. When Climb approached us we were only too pleased to run a show for such a worthy cause that helps so many families in the UK and worldwide, but also has its roots firmly in the local community.”
In addition to the fashion show, the evening included a raffle with prizes such as pamper hampers and a signed book and goody bag from author Milly Johnson. Guests were treated to refreshments and delicious home-baked cupcakes as well as an exclusive discount on purchases in the store.
Joanne Taylor, Fundraising and Events Manager at Climb said: “We would like to thank Penny and the team at M&Co for all their hard work and enthusiasm, the fabulous models and of course the generous support of all the guests. It was a lovely event with a great atmosphere. Having the support of the local community is very important to Climb, and fundraising events such as these help us to provide bespoke support to families and professionals affected by Inherited Metabolic Diseases.”
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! Helen has recently celebrated 15 years with Climb, a fantastic achievement and of course there was cake involved!
Name: The Name’s Bond, James Bond
Position:Secret Service Agent for MI6….. No, really I’m Helen Morris; Climb’s Information Research Officer – I think I got the better end of the deal!
How long have you worked at Climb? I’ve been here for 15 years, the oldest member of the team yet still the youngest too!
Tell us a little bit about your role and what you do on a day to day basis
My role is very changeable. I need to adapt every day to whatever shows up. Generally, I deal with the information side of things and working alongside professionals. However, I do support families too with the more technical questions that require a little more research to answer and can help with translations too. I am also involved in the planning of Climb meetings and conferences and I have been busy recently working on the website and currently edit the Climb Update too, which I really enjoy!
What keeps you motivated to come to work each day?
Well there’s a story to this… and I have to be brutally honest. 15 years ago I was a bad tempered, lazy teenager whose main preference was hanging out with my friends down the pub. It was only really due to my Mum and Dad wanting nagging me to get a job that I reluctantly applied for this job, adamant that under no circumstances was I getting a paper round – No Way – Nah Ah! I wasn’t interested at the interview, but Steve, our Executive Director at the time, I was later told saw me as a challenge. A little surprised (and annoyed!) at getting the job, I began an apprenticeship here and did an NVQ in Business Administration. I was dropped in the deep end with a place in the crèche with the children with metabolic diseases, some of them really poorly, it was an eye-opener. I’d never really seen a child that poorly before and I started to understand. A few months down the line, a friend showed up on our doorstep with her son who had a devastating condition. I saw the bravery and sheer guts that that boy and his Mum had and I followed them through their journey. The day they turned up here, that’s when it hit home and I really got it. From then, I made a promise to myself that I’d do everything I could to support families in the same position, and that is what motivates me. 15 years on, I’ve grown up a fair bit (not that my colleagues agree!) and we’re supporting more families than ever. It’s very rewarding and our families are lovely.
What do you like best about your job?
I don’t think there’s a favourite part? I think there’s meant to be something that stands out…. I can feel my colleagues opposite me winking and giving me the old suggestion that I should name them as the best thing here hahaha!! It’s everything really to be honest! OK, I love the team here. We have a great time and we love each-other very much; there’s a lot of love here! However, it’s not just that. I love the fact that I can turn up and I don’t really know what is going to be my main priority, I don’t know what families are going to ask of me, and in the process of researching the answers for them I learn an awful lot and I enjoy that too. I love the creativity of the website and the Update. Like I said before to follow families on their journeys is just fantastic and I absolutely adore catching up to see what news they have and if there’s even the smallest thing I can do to help them, then it’s massively rewarding. Sitting opposite Julie whilst she managed the London Marathon, I learnt so much about the runners, their reasons for running for us and the hard work they put in. I can’t put into words how inspiring they were and seeing what Climb means to them. Everyone who is involved with Climb in any way, I see them as part of our team. And I love that too!
What are the main challenges you face and how do you tackle them?
My main challenge, and I see it often, is families with no information when they get a diagnosis. I often get families coming to me with zero understanding of the condition, not knowing the future and just having that one piece of paper with our Freephone number or my email address on which they’ve found on Google…. and that’s it; their reality.
And that there is our challenge. It shouldn’t be a reality for them, all over the world there should be more awareness of these conditions and they seem to get lost from the spotlight of other more well-known conditions that hit the headlines. To tackle this, for the family in need, it’s me working with the team here, ensuring they have family friendly information, listening to them, learning about their needs, and reassuring them, encouraging them to stay in touch and to stay with them on their journey for as long as they want me and the team there. For the awareness it’s shouting as much as we can, coming up with ideas and promoting as much as we can too. I’m always trying my best to tell everyone I can about metabolic diseases.
Do you have any funny stories from work?
There’s always funny stories, from Lindsay (our Executive Director) starting her new role here by giving herself concussion with a golf ball, to having a team effort of testing how robust the Climb shop’s unbreakable mugs actually were. Recruiting Julie (our Development and Engagement Co-ordinator) who spent much of her interview holding up BASH, BANG, ZAP and KAPOW signs which I just found totally phenomenal and to be honest I was like a kid in a sweet shop, totally besotted. She’s never changed and she’s brilliant! The mortified look on Julie and Lindsay’s face when it was revealed that matching underwear is not part of every team member’s ritual and that Batman pants are actually acceptable. I had a lot of whirlwind adventures too with Pam (our former Family Services Manager) and getting lost in all sorts of directions!!
What is your proudest achievement at Climb?
There’s a lot; finishing that NVQ and knowing I had a place here was the first, obviously! Winning a night in a lush London hotel as a prize for my MCADD case study poster to raise awareness at professional conferences. The bed and TV were bigger than my living room I’m sure, and there was a pillow menu, an actual menu for pillows!…. I know, right?! Also, more recently was bringing together the Urea Cycle Disorder Day with the team, it was a massive thing for us and something that was a landmark in getting families to be more involved and sharing their views. It was a phenomenal success!
What do you like to do outside of work?
I’m married, with three step-kids. Yes, I am the evil stepmother from the fairy tales! I also have my dog, Millie who is a whirlwind. My husband is fantastic, we’ve been married for almost 2 years and we make a great team.
We spend our time exploring new places, getting out and about. There’s nothing we love more than nature and going camping with a tent and a sleeping bag, often giving up increasing floor space to the dog. I love the stars and am always keen to get out to dark skies so I can see the milky way and at certain times of year the shooting stars too. I’m quite creative. I like drawing and doing bits of artwork here and there and enjoy photography too. When we got married we had an Alice in Wonderland wedding and made all the decorations, bouquets, everything ourselves. I am in love with Marvel. Especially Thor and Iron Man and am easily pleased with any Marvel film. In case you’ve not already guessed I am a big child so I am often found being told off by the kid’s grandad for sliding down the stairs on my bum. Some things never grow old.
And finally, a few quick fire questions – just for fun!
The last film you watched? The Pink Panther with Steve Martin as Jacques Clouseau
Favourite song? *pulls hair out* Oh can’t decide! Queen’s, Don’t Stop Me now and anything by Oasis and the Stone Roses. It’s rare I like much after Brit Pop. Except Coldplay and George Ezra.
Who would play you in a film about your life?Easy. Renee Zellweger. – Me and Bridget, yep we were separated at birth!
Coffee or Tea? Coffee. I’m totally unapproachable beforehand.
Thank you Helen, we’ve enjoyed getting to know you better!
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 with Sandhoff Syndrome, in 2002.
The judges were moved to tears with her rendition of Sarah McLachlan’s Angel, a song which had been played at Ethan’s funeral.
Simon Cowell said: “I felt every word of that. You’re a fighter. What you told me was very emotional. Every step of the way we were with you.”
Following the show, we contacted Rebekah, who had been supported by Climb throughout Ethan’s illness to congratulate her on her very moving audition. Rebekah told us that she had written a song on the day that Ethan was diagnosed, and had always wanted to release it as a charity single with proceeds going to Climb! She hopes that her appearance on the X Factor will help to boost her profile and provide a platform to raise awareness.
Rebekah feels that she is ready to open up about Ethan, who would have been 18 this December. We are delighted to have Rebekah on board as an ambassador for Climb, to help raise awareness of Inherited Metabolic Diseases.
In the meantime, we’re waiting for Rebekah’s next appearance on the X Factor, at the Boot Camp stage!
We wish Rebekah all the very best with her X Factor journey and really looking forward to working together!
Please show her your support by ‘liking’ her Facebook page!
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 and an immense sense of pride at your outstanding achievement!
Prudential RideLondon-Surrey 46 – 30th July 2017
This fantastic cycling event follows a 46-mile route on traffic-free roads, beginning at Queen Elizabeth Olympic Park in East London and finishing at The Mall. This event, while challenging, offers a great introduction to cycling on closed roads and is a wonderful way to ride your first sportive.
We’d love you to be part of one of our 2017 teams! We’ll be with you every step of the way and you will even get to wear one of our snazzy vests! You can still apply if you have entered the public ballot. If you are granted a place in the ballot, the Golden Bond place can be made available to a rejected runner and you will still be part of Team Climb.
What are you waiting for?! Please call Joanne on 0845 241 2173 or email email@example.com for more information and an application form.