Sunday, December 30, 2012


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


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.

Friday, December 28, 2012


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.

Tuesday, December 25, 2012


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 .


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.