NEW DAWN, NEW DAY / FEELING GOOD

Stunning News - For the first time, EVER, SMA is going to be reviewed by the Govt with a view to pre-conception screening.



We have received a letter from Norman Lamb MP, who is the Minister of State for Care and Support at the Department of Health.

It is a lengthy letter, that is copied in to the Deputy Prime Minister  but here is a summary

Dear Tom and Maria

I wanted to write to congratulate you on the success of your evening reception on September 18 , and to commend your work to raise awareness of spinal muscular atrophy (SMA) through the SMASHSMA campaign. I know many MPs and supporters ( myself included ) were moved to hear the story of your daughter Estella. I was also impressed to read your blog setting out the successes of your campaign, and wish you every success in the future on campaigning on what is an important issue.

I am the Minister responsible for policy relating to long term conditions , and following your reception, I asked my officials to investigate the possibility of setting up a screening programme for those who might want to be tested for SMA

The letter then goes on to say that

• The UK National Screening Committee ( UK NSC) are responsible for advising ministers on all aspects of screening policy
• UK NSC will now review SMA screening programmes including pre-conception, antenatal and newborn screening for SMA.
• This is the FIRST time the UK NSC have considered SMA for screening
• The review will take the form of a PUBLIC CONSULTATION in the new year. More details of the consultation will come through next year. In the meantime any person or organisation wanting more details can look at www.screening.nhs.uk

Once again congratulations on the success of your reception , and I wish you the very best in your future campaigning endeavours

NORMAN LAMB

I will be responding personally to Mr Lamb and Nick Clegg this week but what does this mean for SMA

1) There is now no need to get 100,000 sigs to bring SMA to the Government's attention. This has now been done.
2) For the first time ever, screening for SMA is being consulted on
3) When the consultation starts we will be calling upon SMASHSMA followers to be vocal about the need for screening and SMA research. We will be asking stakeholders to register for the consultation and to make their views known.
4) Above all it means that as 2012 ends we have achieved the first goal of the SMASHSMA campaign. We have brought SMA right to the front of government and medical screening attention. Through your efforts SMA has been raised from a disease that nobody had heard of to one that is now firmly on the government and DOH radar. By any stretch of the imagination that is a major achievement. Thankyou to every person who has followed the campaign this year. Well done - you wonderful people
5) Well done to Mr Lamb and Mr Clegg too for taking this matter seriously and for moving SMA up the political and research agenda.



So the year ends on a high as far as SMA and the possibility of screening is concerned.

What matters now is to make sure that the consultation is done correctly and that the spirit and the drive of this cause gets through - in the end this is all very, very simple. We are talking about a disease that is carried by 1 in 40 people. If those people are unlucky and have a baby born with SMA type 1 then there is no cure. That baby will die. It would be good if those 1 in 40 people knew who they were so they can take informed decisions and have choices.

What parent would disagree with that.

Estella's life was short and free from pain. That said we had to kiss her goodbye when she was only eight months old. If her legacy is that other parents don't have to go through that pain then I am sure she would be very happy. I have told you before , my little girl had wise eyes and an old soul in a little body that didn't work too well. She would very much like the idea of sparing sadness, she would very much like the idea of helping others.

Thankyou to everybody who has given so generously of their time.

Put your feet up for a couple of days. We#re going to need you again soon.

It's a new dawn , it's a new day - and we're feeling good.

STOP PRESS

Two days after I posted a blog regarding disappointment at a lack of follow up from the reception at the House of Commons I am told a letter has arrived at home from the Minister for Health giving details of a consultation.

I would still argue that this is not what was suggested at the time but will wait to read the letter before commenting. In the meantime please keep this in mind when reading the blog entitled The Good, The Bad and the Pretty.

I would very much like to believe that the support shown in September was genuine and remain open minded.

AND TO EACH A GOOD NIGHT

Christmas Day

It's an entirely different feel to last year. We are in England rather than Spain - Cristina is due in 8 weeks or so which means we stayed here and had Maria's parents over for a few days. I know she is  a wee bit sad but we have had a good day and there are a fair few presents flying about ( literally in the shape of my remote controlled helicopter )

We had a trip down to Estella's tree this morning. I had never noticed before that it is an evergreen and that it was the only one by the pond still to be green and brimming with life. As always as soon as we touched the wood time melted away and we were back with Estella. Heart wrenching tears from Maria and that feeling I get as if my soul had died with her. Anybody who saw us would not know whether to laugh or call the Funny Farm as we hug a tree from both sides and talk to it as we cry.

We always take a present along. Today we wanted her to have her first ever orange and so peeled it and left the flesh and skin to decompose into the ground but we also took a Gingerbread house. An inspired present choice from Maria. Usually we leave the present there in the hope that a family comes by and takes it but today it soon became clear that the birds were interested. We took off the wrapper and set the house down in front of Estella's tree so she could have a good view.


Birds are daft

They flocked around the house but did not realise that they could eat it. It was like watching the apes in 2001 circling the monolith until one of them develops the courage and intelligence to touch it. Eventually after breaking pieces off they worked out it was edible and started to feast. Our tears had gone and we were laughing at the birds and the Christmas morning show.

Things are better - we know that

But they will never be the same. All that happens is that the heartbreaks creep up on you sometimes when you are least expecting them. The nice thing is that the happy memories also suddenly slide into focus at unusual moments. I still feel Estella in the air and hear her in the night. I still miss her with more pain than I ever thought possible.

I know that it's a special day to day but I have been so annoyed with myself for not updating you all on what is happening. We have a little girl arriving in February - today Maria held her bump against Estella's tree for her to meet with Cristina. They will have a lot in common. We know that Cristina will be her own person though but one day when we can we will tell her about the little diamond who paved the way for her. The little girl who showed more bravery in her few short months than I have seen in a lifetime.

We will tell Cristina about her big sister - and we will tell her with smiles and wonder

And we will never forget her and the life she gave us

Happy Christmas everybody - cuddle your loved ones and sleep tight

And to each a good night .

THE GOOD , THE BAD and the PRETTY

It's been a while.

There has been a lot going on. It started out that I did not want to write up details of the trip to London for the SMASHSMA reception with Nick Clegg as I wanted to be able to report on outcomes. I wanted to give time for things to settle to evaluate how succesful the event had been. For the background please see earlier posts.

So much has happened I hope you will forgive me just using bullet points

• The reception in London was a massive success. We had the Deputy Prime Minister, Nick Clegg, and the Health Minister, Norman Lamb, there as well as numerous MPs and other guests. At the time we were delighted with the session which went on for two hours. The Gillingwater SMA team from Edinburgh were on form revealing some groundbreaking SMA research that had been directly funded by your contributions. An amazing evening.
• Mr Clegg made a speech and instructed Norman Lamb to look into the possibility of testing for the gene that is carried by 1 in 40. He took our details and said that as he had just come into the post it would take 3 to 4 weeks to contact us to discuss in more detail how he could help. Mr Clegg had already asked for a consultation into SMA and we were awaiting contact on this.
• The London reception could not have happened without Andrew Roddison and Morrisons Facility Services who sponsored the reception and made sure that we had a wonderful memorable day in London. They have been great supporters and tremendous advocates for smashing SMA funding sponsorship at Rotherham United and paying for every penny at the reception.
• We had support from some of our most vocal tweeters and that was one of the main joys of the day - meeting some of you in the flesh. It was great to see people who had been so vocal on Twitter having their time in the sun too. Maria did point out that they were all female and all pretty but I put that down to sheer random luck :)
• Natalie Cassidy came down and was a great help on the day.She played the room and knew her stuff and gave a touch of celebrity and glamour to the event.The support of Natalie has been a cornerstone of the campaign. She is a true star.
• We were told by the Health Minister that he was very moved by our case and that he would be in touch in three or four weeks - that never happened. To be honest that has been the first major set back of our campaign. The Government showed interest on the evening but did not go through with their promise to stay in touch . Everyone tells me I was politically naive to trust them and I apologise to everybody who has followed our campaign for doing so. 
•  It has now been almost a year to the day that we first met with Nick Clegg. I was convinced on the night that our presentation had moved him and it would have been a perfect way for Mr Lamb to make a splash right at the start of his new position. My old Headmaster always said that people should be judged not by their words but by their actions and as nothing has happened we have almost given up hope of true political support. I MUST point out that this is not a political decision. It was never about parties - It was about our little girl Estella and we trusted Nick Clegg because he is a Husband and a Father. There are probably good reasons why we have not been contacted but it would have been nice to update us with progress.
• For clarity - the Gillingwater campaign needs £ 50,000 to keep going strong for 2 years. It is our belief that the breakthroughs they are having will make a MAJOR difference to the SMA experience for thousands of families. Tom Gillingwater forbids me from using the word cure ever - but he knows what I think :)
• We have continued to try and raise money for Tom Gillingwater - this will increase soon due to the kind donation of 1000 SMASHSMA bracelets and envellopes by twitter followers. We will be passing over the first £ 300 or so in January and there will be a monthly donation beyond that.
• We have moved house into an amazing place that has a lovely nursery for Cristina ( note new Spanish spelling ) 
• We have had Maria's parents over for a pre-Christmas Christmas. Great success and those of you who remember last Christmas will be pleased to see them looking so genuinly happy. They were our greatest rock during our short time with Estella and its now time for them to have the happy years they deserve.
• 
• As I said there has been a lot going on and this is only a brief catch up. All goes well with Cristina - probably looking at mid February for her birth. Maria is doing an impression of the Goodyear Blimp and all tests are looking good.
• The Twitter account now has 41,500 followers and interest is as strong as ever. We are as grateful as ever for the support. We still get daily messages asking what SMA is - and that pleases me - my theory is that every person we tell can possibly become an advocate and there are some amazing people out there.

STARS and BRAS

As we get ready for the serious business of the SMASHSMA reception with Nick Clegg at the House of Commons there is a bit of other business going on that may raise the profile of Spinal Muscular Atrophy even higher.

We decided early on in this campaign that if we were going to alert people to this dreadful disease not everything could be about the disease itself. To capture attention , imagination and inspiration you sometimes have to appeal to senses other than empathy.

We could not have a better example than the wonderful celebrity art bra auction that will take place later this year.

First of all let's introduce you to the splendiferous Linda Kirkbride @lindakirkbride1

LINDA and HER ART BRAS

Linda came up with the idea of creating a bra that could be auctioned to raise money for the official SMASHSMA charity at Edinburgh University.

SMASHSMA CHARITY DONATIONS PAGE


She had made the bras before themed around the charity that she was supporting. Straight away it was suggested that the theme would be STARS - Linda set to work getting her materials and we started to think about how to get the highest possible donation.

As you know we have had amazing support ( no pun intended ) from celebrities ever since Estella died last November. Just this week Tom Cruise tweeted her details to millions of people. It made sense then that if we could get a celebrity to model the bra then this would raise the profile of SMA and at the same time increase the bids that we would get towards research.

So off we went to Natalie Cassidy who has been amazing since her first tweet about Estella.

 I asked if she knew anybody who may model the bra ( secretky hoping that she would say that she would ) - Natalie came back though with another suggestion - and that's how we met Nicola Mclean.

Nicola has been fantastic and straight away said taht she would be the model for the charity art bra. One of her bras is currently winging its way to us so that Linda can start work with the arty side of the project. Linda has not only been so supportive and enthusiastic she has also managed to get us hundreds of followers with her retweets. She has also spread the word among other celebrities who are also retweeting for our little Tinker, Estella. An amazing lady - please follow her on Twitter @mrsnicolamclean

So there we have it. Sometime before the end of the year Nicola will be modelling the bra and we will be holding a charity auction. There is talk of Linda making more bras for more celebrities as well and we are being followed by two excellent candidates in Natasha Giggs and Heather Bianchi

Two more celbrities who mention Estella a lot.

I can never say how gratteful I am for all of this enthusiasm and commitment from celebrities who are going the extra mile to alert people to the number ONE genetic killer of babies. There are some superb people about and I know that Estella would have had a cheeky smile for all of them.

OK - anybody want to start the bidding for a CELEBRITY SMASHSMA BRA ?

Thanks Nat - You are unbleievable.

and Nicola - you're an Angel

LONDON CALLING

September 18th will be an important date in the fight against Spinal Muscular Atrophy.

We have a confirmed House of Commons reception with Nick Clegg, the Deputy Prime Minister from 6 pm - 8 pm that evening. This follows a constructive meeting we had with the Deputy PM earlier this year.

This is an opportunity to

• Explain what SMA is
• Explain that 1 in 40 of people carry the disease
• Highlight the support and research that surrounds SMA in the UK
• Stress the need for awareness and how screening could improve the options available to parents

Morrison Facilities Services have been tremendous friends to the SMASH SMA cause and they will be sponsoring the reception. Natalie Cassidy will attend to add celebrity weight to the message.

The most important thing now is to ensure that as many MPs as possible attend the reception and that is where you come in. 

It would be terrific if you would email the Member for your area to ask if they would attend the reception. I have put the suggested wording below.

Dear .............

Spinal Muscular Atrophy Awareness Reception

I am writing to inform you that a reception is being held in the Macmillan Room of Portcullis House on Tuesday 18th September from 6 pm - 8 pm. The reception is being hosted by the Deputy Prime Minister, Nick Clegg.. The reception is to raise awareness of Spinal Muscular Atrophy (SMA). 

• SMA is the number one genetic killer of babies in the UK
• 1 in 40 adults are SMA carriers
• If both parents are SMA carriers then their baby stands a 1 in 4 chance of having SMA
• A simple genetic test would alert parents if they were carriers

The evening has been organised by Nick Clegg following a meeting with two parents who approached him following the death fo their daughter in November 2011. Estella Sweetman-Lopez was 8 months old when she died from SMA

Estella's parents have worked tirelessly to raise awareness of this disease. They have 

• 35,000 followers on Twitter and Facebook
• Raised over £ 40,000 towards SMA research
• Had national newspaper coverage for their SMASH SMA campaign

I have followed and supported their campaign closely and would be very grateful if you would attend this reception on behalf of myself and the parents who have been affected by this disease from within your constituency. Research suggests that the cure for SMA may be very close - and it is the UK that stands a very good chance of unlocking the genetic solution. How wonderful if this campaign resulted in a cure being found for the number one genetic killer of babies.

For more details of the background to Estella please look at these two links. The first one is a moving video that has been seen by over 50,000 people. The second gives details of Estella's life. . 

http://www.youtube.com/watch?v=34RmmLWhr80

http://www.bluebellwood.org/estella.php

I know that if you look at the information you will understand the importance of supporting this tremendous cause. May I thank you in anticipation for your support in raising awareness of a disease that could affect any one of your constituents

YOUR NAME XXXXXXXXXXXXXXXXXX

Please take a moment to send that to your MP

 You can find their details here

http://findyourmp.parliament.uk/

Last thing for this blog.

I mentioned Morrison and their support of the SMASH SMA campaign. Just look at this tremendous sign that they have put in at Rotherham United's new stadium for the forthcoming season. They have been tremendous supporters and could not have been kinder.

KATIE FUTURE STAR

As part of our support of the Gillingwater-Parson research work we were delighted when a scholarship was set up in Estella's name. We were even more delighted to receive this report from Katie Hoban detailing her work within this innovative environment. This is Katie's report 

Estella Star Scholarship Report

Having just completed my BSc degree in Neuroscience and looking forward to beginning my training to become a medical doctor at the University of Edinburgh, I was keen to spend time in a scientific research laboratory. I am particularly interested in the way in which basic research will inform my future clinical practice and when I saw the advert for the Estella Star Scholarship I immediately applied. I was delighted upon hearing I had been awarded the scholarship and the chance to work in a leading SMA research laboratory. My project was to be supervised by Dr Simon Parson and entitled “The role of the vascular system in Spinal Muscular Atrophy’.

You may be surprised that I was not to work on motor neurons, but instead the vascular system.  This is because it is becoming increasingly apparent there are other key targets, such as the heart and blood vessels, in the disease as well as the characteristic muscle atrophy. Previous research in the laboratory shown the amount of blood vessels in muscle is dramatically reduced in mouse models of severe SMA. My project was to investigate the blood supply to the spinal cord (where motor neurones are found) and nerve (which connect the motor neurons to muscle). First we carried out a detailed analysis of normal tissue upon which to base future SMA studies. I learnt new techniques to isolate specific tissues, prepare them for microscopy, stain them to highlight blood vessels and then quantify the amount of blood vessels present. This was challenging at first, but with help from the other students in the laboratory I soon became proficient and was able to collect data. We found that the newborn spinal cord was sparse of blood vessels, but steadily increased over the first few weeks of life. We specifically noted changes in the part of the spinal cord where motor neurons are found. Peripheral nerves were much better supplied with blood vessels at birth. This is important as defects in blood supply to either of these regions could have catastrophic consequences for motor neurons. I presented this data at a recent symposium on Motor Neurones and Diseases of Motor Neurones, and hope to submit it for publication later this year. Finally we began to assess tissue from mice which model severe SMA and found some potentially very interesting results, but these are too preliminary for us to publicize yet, so watch this space!

Working in a hospital environment in recent months has highlighted the fact there are patients in urgent need of therapies for currently incurable diseases. To be given the opportunity by your incredible Estella Star fundraising efforts, allowed me, in a small way, to add to current research. When previously speaking to you both during your visit to the lab, I was struck by your profound dedication and personal commitment to heighten the profile of SMA and I vowed that by the end of my placement, I would be able to report new developments which would provide a platform of information to help further understand the disease pathology of SMA.

I will make it my utmost effort to follow the progress of the Gillingwater-Parson lab because I sincerely believe that they are at the cutting edge of scientific research and with the advances to date, we are en-route to answering many of the unresolved questions in SMA and together with your fantastic fundraising efforts, are another step closer to SMASH SMA.

I can only thank you for this unique opportunity and have nothing but respect for your dedication to help us find treatments to the fatal disease that is SMA.

Katie Hoban