HEROES

It's been awhile

Three things happened during the last week that have occasioned this blog.

Firstly we were in Seville for a break and had gone to Estella's fountain. We bought her her usual present and put it in the water. It was a water pistol because I imagine she's rather cheeky by now and I had a trial shooting water at her Mummy to amuse her. As we left Maria asked why I had not taken photos this time for Twitter and I said it did not feel right. She was happy and said that it was a sign that she was becoming our daughter again and not a symbol for a campaign.

Secondly we heard from the organisation that are doing the consultation into screening for SMA that we had been fighting for. They apologised for overlooking us in the consultation process and suggested that they would extend the consultation by two months. All I could think was that would be another two month delay until the outcomes were realised and I also decided that i think I have said all I want to say.

Thirdly - It is SMA awareness month. I found this out from my own twitter account on August 7th. It was then that I realised I was no longer paying the attention that was needed to an account with 44,000 followers. I simply couldn't find the 2-3 hours a day I used to find.

All of this sounds as though I am ending the SMASHSMA campaign.

I'm not.

I intend to raise funds when I can. I intend to spread awareness, I will be there instantly if any parents ever needs help or support, I intend to carry on raising the matter with the government but I feel sure you can see I have not been around as much lately and wanted to explain that the moments we are sharing with Cristina are absolute heaven and I would be wrong to use my energy fighting SMA each and every day. I need to be a lot more focused. Cristina is bringing so much joy and yet it is tinged with sadness. I watch her now starting to crawl and laughing and holding her own spoon and I realise more than ever how poorly Estella was. I see what was going on in her head and it makes me cry. It strips me down to the same raw feeling that we had when Estella died.

I promised Esetlla that I would do all I could to rid the world of this terrible disease and I'm not giving up on that but I am saying that there will not be 50 tweets a day anymore.

It's more than a matter of time though

I have called this blog Heroes - because of the people we have met along the way. The individuals and organisations who have done so much to spread the SMA awareness story. I'm not going to start listing because I will miss somebody out and I would hate to do that. We have met some exceptional people and had extraordinary support. We have had one organisation ( Morrison Facility Services) that have spent a fortune - we have had individuals who have tweeted all night every night for month after month, we have had some medical support while Estella was alive from people who loved her and became friends.

There have been low points. The cynical politician who tried to hijack the story, the celebrity who disappeared and some amazing behaviour from the charities that are supposed to be fighting this disease. It would be churlish to go into detail but if I have had one single life-changing experience it has been with the incompetence demonstrated by a major SMA support charity. I genuinely believe that it is not from lack of money that SMA is not cured yet but from a lack of direction , intelligence, innovation and desire from some of the most unprofessional morons it has ever been my displeasure to speak with. They know who they are.
Time wasters - money wasters - life wasters. Shameless

Let's not end this blog with that bitterness that i feel towards some of the organisations.

It's called HEROES for a reason.

Let's end with an abiding thought of the sweet, dear little girl that this is all about. Our Estella was an exceptional person by any standard. She lived a  short and meaningful life and she made a difference to so many people. She inspired, she entertained and she shone like an absolute burning star.

I miss her every day. I think of her constantly and I would give my heart and soul for another ten minutes with her. She never ran, she never sang, she never stood and played with a ball - but she is in my heart and my mind and my life. She was born with the cruellest , most wicked , disease it is possible to imagine and yet she smiled and brought so much happiness into our lives.

Estella means star.

There are so many stars in the sky. There are children everyday who are dying from this disease. I will continue to do what I can - but - it's not my life anymore, it's not my reason for being anymore - remembering Estella and loving my time with Cristina and Maria is my life now. They're my three girls. They're my life - and SMA is a dirty , nasty - naughty little disease. If we can make something of this life and find happiness then Estella beat SMA. If we can be happy then that little heroic girl did something that I could not.

She smashed SMA


Thankyou for listening


And for all your kindness to my family

May you always be happy.

SMA - THE CONSULTATION

Had the following through from Edd Hair

Assistant Private Secretary, Minister of State for Care and Support

This is the follow through to the meeting we had with The Minister and the Deputy PM last year.

I hope that some of you find time to give response to teh consultation.

Tom

Further to my email below, the minister asked me to keep a watching brief on policy relating to spinal muscular atrophy, and to write back to you when I had something helpful to pass on.

First of all, I wanted to make sure you were aware that the UK National Screening Committee’s (UKNSC’s) consultation on screening for SMA was now underway. The review of screening policy for SMA is taking place from May 2013 to May 2014, and the UKNSC are seeking views by email until 5 August. Further details are available on their website, and I would encourage you and your supporters to write in with your views:

http://www.screening.nhs.uk/sma

I know one of the other areas of focus for your campaign was funding for research. In particular, you mentioned the work of Professor Gillingwater's research team at the University of Edinburgh. The overall focus of their research is on cellular and molecular mechanisms that regulate the form and function of the nervous system in health and disease. The UK Research Councils are the appropriate public funders of this type of research, and the research team's webpages acknowledge funding support from the Biotechnology and Biological Sciences Research Council.

The Department of Health funds applied health research in England through the National Institute for Health Research (NIHR). The NIHR biomedical research centre at Great Ormond Street Hospital and the Institute of Child Health has carried out research on spinal muscular atrophy. Applied health research in Scotland is funded by the Chief Scientific Office.

I’m sure you / Professor Gillingwater will have already pursued a number of funding opportunities, but in case not, here are further details of the funding opportunities provided by relevant organisations:

http://www.bbsrc.ac.uk/funding/apply/apply-index.aspx

http://www.mrc.ac.uk/Fundingopportunities/index.htm

http://www.nihr.ac.uk/proposals/Pages/default.aspx

http://www.cso.scot.nhs.uk/ApplyingForFunding/ApplyIntro.htm

These organisations are independent and do not ring-fence funding for particular projects, however all organisations consider applications in open competition, with awards being made on the basis of the scientific quality of the proposals made. Decisions are taken independently, according to the long-established ‘Haldane principle’. If Professor Gillingwater has not already done so, I would certainly encourage applications to these various funding sources. I’m sure the minister would want me to pass on his apologies that he can’t be more directly helpful with influencing funding bodies – which I know was the central point of your email below - but I’m sure you will appreciate the importance funding decisions being made on merit and without the interference of ministers.

You might also be interested to know that the National Institute for Health and Care Excellence (NICE) has been asked to develop a clinical guideline on neurological problems.  The guideline will provide the underpinning source of evidence for a quality standard on the same topic.  (Both documents effectively set out what good care looks like, and are used by CCGs to inform the services they commission).

The exact scope of the guidance, including which conditions will and will not be covered, will be determined by NICE through consultation with stakeholders, but you may wish to keep abreast of work on this topic as it develops.  Once NICE initiates work on this guidance, further information will be available on NICE's website at http://www.nice.org.uk/guidance/CG/InDevelopment. You can see ‘neurological problems’ on the list of guidelines referred on this page: http://www.nice.org.uk/guidance/cg/indevelopment/GuidelineReferralsUnderpinStandards.jsp and may want to write to NICE to seek further confirmation for exactly when they intend to develop this guidance further, and to ask that you are engaged / can become involved at that stage.

Finally, you may be aware that NHS England took on their formal responsibilities as of 1^st April this year. This means that, in effect, NHS England is responsible for determining clinical policy (including policy on the diagnosis and treatment of spinal muscular atrophy). The government sets out a high level ‘Mandate’ to NHS England which sets out strategic priorities on a general level (including ‘domain two’ which focuses on long term conditions); and it is for NHS England to determine how to deliver against the objectives set out in the Mandate.

You can view the Mandate here: http://mandate.dh.gov.uk/

You might also wish to write to NHS England for more information on their intentions around clinical policy in this area. The relevant contact would probably be David Bateman, who is the National Clinical Director for acute and chronic neurological disabilities.

I hope the above is of interest, and apologise for not having been in touch sooner.

Yours faithfully,

Edd

Edmund Hair Assistant Private Secretary, Minister of State for Care and Support Department of Health, 79 Whitehall, SW1A 2NS E: edmund.hair@dh.gsi.gov.uk | T: 0207 210 5549

LET LIAM LIVE - AN UPDATE

We have had two replies from Liam's Dad both of which show what a humble and intelligent person he is. In the first one he is keen to say that they do not wish to attack ISIS pharmaceuticals but would rather try persuasion. We have made some suggestions.

In the second he replied as follows

Hi there, 

Thank you for your support, your encouragement given us a great ideas, I think, we now have a plan to make something big.

Obviously we will work quickly, because each day count in the SMA. In waiting if I understand we need to put into our communications the #smashsma ,
#letliamlive and the link to your blog?
Give us a few days and the Canadians will be to the appointment:-)

 

I replied with

 

 

Excellent. You can use any of our information. You can use #smashsma #letliamlive or our blog if it helps. I will write to or speak to anybody you suggest. I will do every single thing I possibly can to help you. It is essential that your son is given a chance. You have my 100% commitment to your cause. I have contacted a friend in the American Embassy. I think you are right it is proper to be polite with ISIS but they will listen better when you and that lovely boy are on television. Take care and - I hope this sounds proper - despite all of these things enjoy every moment with your little fella because these are special days that will not come again. You know that I am sure but I wanted to say it.

 

Tom  

CAN WE SAVE THIS LIFE ?

THERE IS AN 8 MONTH OLD BOY AND HE NEEDS YOU- PLEASE READ


You may have seen an article about a little boy called Liam who is 8 months old and has SMA. The trials that we have been fighting for are STARTING in Canada and SMA type 1 babies are being given a chance to live - apart from Liam because he is 17 days too old to qualify for the trial. You may have heard this story - well today we received a direct appeal from Liam's parents asking if there is anything we can do.

Please can I ask you to make a fuss about this - let's make a noise all over TWITTER. The hash tag will be #letliamlive LET LIAM LIVE. Even if he is outside the age for the trial he should be allowed the drug and the results should then not be included in the study. There are not thousand's of these babies there is this one little lad and they are going to let him have no chance of regeneration because he is 17 days too old.

This is barbaric.

Here's the story




LET LIAM LIVE


MONTREAL - An infant who's slowly dying of a rare spinal defect has been denied an experimental medical treatment because he's 17 days too old.
The cutoff set by the U.S. pharmaceutical firm ISIS has outraged his parents, Yan Defosses and Emanuelle Desbiens.
"It's cruel and completely inhuman," Defosses told QMI Agency.
Eight-month-old Liam suffers from spinal muscular atrophy, a genetic disease that attacks the spinal cord, weakening his muscles.
His parents realized something was wrong soon after his birth. He was losing muscle tone instead of gaining it.
When he was four months old, doctors gave his parents the diagnosis and said the baby only had two years to live.
He's already showing symptoms of the disorder. He can't lift his head without help and has difficulty breathing.
But the family's hopes were kindled when they learned that California-based ISIS has conducted clinical trials on the drug SMNRx.
"We are in contact with families in the United States, and it has completely changed the lives of their children," said Defosses. "They've survived under more than acceptable conditions."
Earlier this spring, the company announced a second phase of clinical trials, this time in babies. But the children had to be seven months old or less before May 1. Liam was seven months and 17 days old.
Liam's doctors said they could do nothing because the trials aren't being conducted in Canada.
Saint-Justine Hospital and Health Canada were prepared to approve Liam's treatment but ISIS refused.
"It shocked us and destroyed us," said Defosses.



Below is the heart-breaking plea from his Dad

Please tweet about this - let's start the ball rolling

Please tweet ISIS - Please allow Liam to be included in your SMA study. Please let hum live #letliamlive



-------- Original Message --------
Subject: Message via votre profil Google : We need your help
From: Yan Défossés <yan@groupeinfiny.com>
To: estellameansstar@gmail.com
CC:

Greeting to you,, my name is Yan I'm the father of a child who are diagnosed with sma type 1. I write to you from Montréal Canada, like you probably know Isis pharmaceutical begin a clinical trial on infant with her compound the SMNRX. Our son Liam meet all the criterias for this study, unfortunately the canadian centre is not yet rolling and my son just turn 8 months. So he is now too hold for the study.

Because we know how it's important to restore as soon as possible the smn protein level, that few weeks, can make all the difference to restore motor function of our child, we continued our research, to avoid delaying access to the experimental treatment. After describing the context and give all the information we have about Isis and SMNRX, to Health Canada, equivalent of the FDA in U.S. we obtain a special authorization granted by Health Canada allowing Isis to provide the drug out off protocol and releasing any liability. With that way, Isis can receive more data and is not obliged to diffuse or account the result in the actual study.

Obviously, there is no obligation for Isis, to accept. And there is the point, she refuse:-( I understand you make some pressure last year to stress Pfizer to invest in the SMA and it seems that it work with her engagement in the RG3039 and Repligen. Could you give us advice to encourage them to change their minds quickly, before the therapeutic window of our little boy has passed? Thank in advance The Desbiens-Défossés family tel: 1.514.583.1247 Thank you so much again for all you do for the SMA and sorry for the strange writing we usually speak french at home Yan



I have replied

Yan

 

I was devastated to read your story. Our little girl died aged 8 months from the same disease and we have been working since then to get drug trials and now we are told that ISIS say no to your case. The argument you put forward is fair and reasonable and should appeal to rational and caring hearts,

 

BUT

 

What you need now is to make a noise

 

1) We have asked 44,000 twitter followers to tweet their protest at ISIS and we are using the message LET LIAM LIVE #letliamlive

2) We will do the same of FACEBOOK

3) Messages are being left for you on our blog at www.smashsma.blogspot.com

 

BUT

 

You are in Canada. Get the local TV station. Get the local newspaper. Get the local radio. Go and sit in the lounge at the TV station until they will hear you and put you on TV. this is a heart-breaking story and they will give you publicity - publicity enough to SHAME ISIS into acting. You need to tell then that thousands of people in the UK are backing you and you need the people of Canada. Liam needs the Repligen  and he needs it now. If the facts are not included in the overall trial so what it is a moral and kind act - it is a human act to give the boy the help he needs.

 

If ISIS will not listen then get your friends and your family to sit in their reception until the TV cameras turn up. You are fighting for the quality of life of your treasure and you must do everything you can. It is not enough for them to use lame arguments about access to the drug. there are not hundreds of babies with the condition so the argument that they have to draw the line somewhere is NOT ACCEPTABLE. I will do anything at all to help from this end. Do you have a TWITTER account ? Please let me know. We are with you - we are praying that sanity sees its way through. Please let us know what happens. please send more photos of Liam to help me spread the word at this end. I lost my little girl and we swore to her that we would SMASHSMA - well she would love it if this became a very concrete example of her legacy. the people here are amazing and they will be writing to you and giving their hearts.

 

Be strong. Fight



Emmanuelle Desbiens · Polyvalente de Lévis

We are the Liam's parents and we would like to clarify, that although it may seem cruel, we understand and respect the position of the pharmaceutical to strictly follow the eligibility criteria of their study. Our sadness is that Isis refuses to grant the three experimental doses despite a special authorization granted by Health Canada, the equivalent of compassion access the FDA in the United States. The authorization provided by the Special Access Programme to drug released from all responsibilities this pharmaceutical. Isis could collect additional data without creating noise in the current study. We follow the developpement of this compound and be confident its the good for our child. In addition, if you know this disease (SMA TYPE1) you know that now is the time or never to help.

 

NICE TO SEE YOU

The care and attention and support that we have had since Estella's death in November 2011 has been well chronicled in these pages. There have been some celebrities, some institutions , but most of all there have been some fantastic people who could not have been closer if they were family. They listened while we cried , they listened while we raged and they listened while we remembered. Exceptional - amazing people. You know perfectly well if it is you that I am talking about. Do not be modest - you know.

We always said that it would be terrific if one day we could meet up with some of our strongest ( and maybe strangest ) supporters. Some came to London with us to lobby Nick Clegg. Others have visited us around the country but there are far more of you that I want to say thankyou to in person.

As you are probably aware we recently decided to hold a SMASHSMA fundraising evening. The theme was unusual - we wanted to reproduce a 1950s Beat Generation 'Happening' - complete with bearded poets and musicians. Think MADMEN during the first season and you won't go far wrong.

So after lots of organisation we are holding a full weekend of retro 50s and 60s entertainment at the New York Stadium in Rotherham - South Yorkshire. The theme is based around the Beat Generation writer Jack Kerouac who wrote the famous novel - On The Road.

What's that got to do with SMA ? Nothing - and that's the point. The novel, On the Road, and the philosophy of the Beats was to live life in the moment. to celebrate , to love, to dance and to enjoy every moment - and that's what we think of when we think of Estella. a little girl who made the most out of every ounce of life that was given her - and although that wasn't much in terms of time - it was so much in terms of quality and the impact she has left behind.

So

We want YOU to come and meet Maria and myself and Cristina at the event. We want to thank YOU personally for all you have done and the love and support you have shown. Even if you have never heard of Kerouac then I can still promise you a Saturday experience you will never forget. We have a band Heath Common and the Thin Man who will really get you going, We have a play that I wrote with my mate Brian called Beat Surrender and we have an evening of song, poetry, dance and craziness that will be unlike anything you have ever seen as you are transported back in time to 1957 and a retro night to remember. If you come to both days there are panels and discussions and films about the beats on the Sunday.

Every penny of profit ( please God ) is going to Professor Gillingwater's SMASHSMA research fund.

More importantly though we would love to meet you and thankyou. there will be a film about Estella and the chance to help spread the word about SMA with us. Please come and say hello.

HOW YOU CAN HELP

1) Go and follow the show on TWITTER now @kerouacbeats
2) Full details of the weekend are on www.kerouacbeats.blogspot.com PLEASE LOOK
3) The full weekend costs £ 25 but that includes 18 hours of entertainment / free parking / a cuddle with Cristina - and all goes to SMASHSMA
4) Or just come to the Saturday or Sunday at £ 15 per day. I would rather you were there on the Saturday night so you can get a little pisse@@@ drunk and buy things in the SMA auction.
5) It would be amazing for us to meet you but also for you to meet up with people you have been tweeting with for nearly two years now.
6) 6th and 7th JULY - NEW YORK STADIUM / ROTHERHAM
You can buy tickets NOW at

BUY TICKETS NOW - PLEASE

Please come along and say hello - we want to meet you. If you can't make it why not just buy a ticket anyway and consider it a nice mad act to support SMASHSMA

See you there xxx

CHANGES

I don't know if you have noticed but we are losing a lot of followers from the Twitter account. Overall the number is increasing but there can be days when we lose over 100 followers as we gain new ones. For a while this upset me then I had a Direct Message from one of our followers who explained that they were leaving now because they 'were not needed any more.'

Then I got it.

There  were people thinking that since the birth of Cristina on 20th February we no longer needed help with grieving - we were posting pictures of her and sounding far happier and people were thinking that it was time to go.

They are right in one way. I have certainly been tweeting far less and Maria and I could not be happier with our new life. Cristina is not only healthy, she is beautiful, bright and highly entertaining.

Just because we now have Cristina though does not mean we have forgotten about Estella and our promise to SMASH SMA. I have always said that this was not about us it was about raising awareness of this disease and doing all we can to make sure that YOU and other parents don't go through what we did. That is Estella's legacy.

Things have gone quiet but we are just regrouping thoughts and ideas - at the moment

We are organising a literature convention on July 6 and 7 at the New York Stadium in Rotherham. Its based around the works of American writer and poet Jack Kerouac and all proceeds will go to Tom Gillingwater's SMA research. Even if you have never heard of Kerouac there's a concert, a film, a play , a party and a great opportunity to meet Maria and me - and to help towards SMA research. There's more details at www.kerouacbeats.blogspot.co.uk or follow the twitter account @kerouacbeats

We are still awaiting more news on the political side. Norman Lamb and Nick Clegg are pushing the screening consultation and new MP Sarah Champion is also promoting our cause.

The Jennifer Trust have announced that they are now supporting Tom Gillingwater

We are getting great celebrity support with daily messages from Lauren Carre who has been a great follower

Wrist bands are still selling to raise funds.

To be very clear - we still need your support because the campaign is now about making sure that this disease is seeing its last days. So if we look happy - we are - but that doesn't mean that every single day there are not new babies diagnosed with SMA - and that's what we want to stop.

Cristina had her 8 week check up on Monday.

Last time we had an 8 weeks check up was the day they diagnosed Estella and our world ended.

She passed with flying colours.

Please stay - we need you 

NOT A LOSER

Yesterday I got one of those heartbreaking messages that I have seen all too often during the last year.A Dad wrote to tell me that he had lost his son aged 18 months to SMA. I wrote back with my condolences and my usual offer of any help and support and then received a response asking how to cope with the loss.

I will not go into this individual case but lay awake last night I did wonder if it was worth putting a few notes on here that may one day help somebody with their loss.

The first thing to say is that I am very aware that every circumstance is different and I know there is lots of amazing professional help out there. I would not dream of trying to say that there is a particular way of dealing with the death of a child. There simply isn't.

What I can do is give you some thoughts as to what happened with Estella and hope that some of these words can make a small difference.

I know the reason we get asked how to handle this particular situation is because it appears that we have managed to handle the events that occurred in a particular way. I will elaborate on that later.

Here's how I see things.

There is nothing more devastating than losing your child. It is more than a cliche to say that it is unnatural for a parent to outlive their child but cliches exist for a reason and the first feeling when you lose a child is the sense of unfair and harrowing loss. I can not even begin to imagine how it must feel to lose a child suddenly - as in the case of an accident - no time to prepare. No time to even wonder about any consequence.

We lost Estella over a period of six months from her diagnosis at 8 weeks to her death at 8 months. That period of time allows for a lot of talking and a lot of planning but you are still not prepared or ready as the day your little girl says goodbye is not known. SMA is a cruel and heartless disease. The best way I can describe what happens is that there are a number of very bad days when Estella had some occurrence such as a blockage that prevented her breathing that she overcame. Upon overcoming though she never returned to the same health she had before the attack. You don't see a gradual deterioration you have days when certain skills and abilities are lost never to be recovered. The blessing is that this gives you the pleasure of many good moments and many triumphs and some of my happiest memories are of singing to the little tinker or just sitting for hours stroking her hand. In every moment of pleasure though there is an enormous black hole inside your soul that aches beyond anything I can ever explain. It is constant. It is frightening and it is tragic. You are watching your daughter saying goodbye at the same time as you are watching her grow and develop. There are many moments of silence when you sit alone and scream inside.

Eventually though we had to say goodbye to Estella. There is a longer description elsewhere in this blog of that Sunday afternoon for the purpose of this let me just remind you that her death was painless , measured, timely and beautiful. We were able to hold her one last time without her breathing mask and the machines and the tubes and for one last time we were able to kiss her and say our final goodbyes. The word beautiful sometimes confuses people and may even offend them. Let me explain. We had had many meetings with people who explained all of the possible options and scenarios that could happen at the end and believe me there were some horrific ones. In the end we had the best possible farewell. Maria held Estella. I held Maria and we saw our daughter fall asleep. We felt her breath and watched her calmly pass with no pain and none of the horrific possibilities that we had been prepared for, We bathed her. We held her. We dressed her. We said farewell.

So what happens next.I still say that one of the most terrible moments I experienced throughout the whole six months was the unbelievable discussions where you have to sit in a room preparing all of the details for your daughter's funeral. The decisions. The choices. The numb disbelief that you really are talking to people about the type of coffin and the music and the service. Beyond the funeral though there comes the worst bit - the loss.

OK. You leave the crematorium without your little girl. You have to walk away leaving her behind. You're not going to see her ever again. It is the emptiest and most barren feeling anybody could ever experience. You drive away without your little girl.

There is then no pathway that anybody can ever tell you how to tread.

I felt guilty. I am a big hunking lump and I could not protect my little girl from this ending. Nothing I could do could make this disease go away. I promised her I would do what i could to try and help others but there was nothing I could do. I could not help Maria with her loss other than realising whatever I was feeling this generous, gentle perfect Mummy was feeling a hundred times more. I was useless at caring for Estella. Some days I would have to go and walk around the gardens of Bluebell Wood for an hour but while I did that Maria looked after every tube , mask, food issue - Maria very kindly always said that she was maintenance and I was entertainment.I got a couple of hours a day to read Cat in the  Hat to Estella and I watched her eyebrow raise in speculative laughter at my tales and songs and tickles. Part of my guilt was wondering if I had done enough as a Daddy. At worst I would think to myself that what I gave to Estella was a disease that was in my genes. That was my present. When those kind of thoughts crept in I managed to deal with them by a kind of logic. Maria also carried SMA so if it was my fault was it also hers  ? Of course not that would be stupid to think - so if that was the case then it wasn't my fault either.

You feel guilty though. You feel guilty any time life becomes normal. I remember watching an episode of Father Ted and laughing at some silly Mrs Doyle comment and then absolutely hating myself for daring to laugh when my daughter was dead. There is one way of thinking though that Maria taught me ( are you starting to grasp how strong she is ) - all she said to me was , "Is this how Estella would want it ?" It's a perfect way of thinking. Would that clever and intelligent and sensitive little girl want Maria and I to be unhappy forever or would she want life to carry on. Would she want us to remember her with fear and whispers or with happiness and wonder?

The next fact is that if you lose a child you are about to go through the biggest challenge to your marriage that can possibly exist. Many couples end up divorced. Fact. I think we survived for a very simple reason - no matter how low we got we never - never-never blamed each other for anything that happened. I blamed myself. Maria had days when she blamed herself but there was never an instant when I blamed Maria and she never ever blamed me. Maria gave Estella the greatest, most amazing support possible. She lived by Estella's side, She kept me and her parents sane. She made decisions. She fought for Estella when she needed to fight. She kept her alive at least a dozen times. Never blame each other.

SMASHSMA helped. It gave a focus and passed many hours building up the awareness that is explained in other sections. The point here that I would suggest is that there will be people who want to help you. Let them because they are exceptional people. Some people will not know how to approach you or what to say. Of course they don't - its an experience that they will hopefully never have to feel. Don't turn them away though - take all the support you can. It makes you stronger.

There will be certain days. Anniversaries. Birthdays. Christmases - so many occasions and moments. Handle them by accepting you will feel bad. Lock yourself away. Take yourselves away. You know those days will hurt so don't pretend that they will not.

The one thing I don't know how to prepare for though is the thing that happened a couple of hours ago. That thing will happen thousands of times.

I was driving along the motorway. A winter afternoon. Listening to football on the radio. Looking at the traffic. Mind in neutral. Then I noticed how gorgeous the sun seemed streaming through the trees to my left as I drove. Winter sun is white and sudden and hauntingly beautiful.
Bam - thirty seconds later I was still driving with face soaked in tears and my heart pounding. Total loss of sense and calm as from somewhere buried within I could see , hear , touch , smell and taste every single thing about Estella. It came from nowhere. No preparation. Crying Muppet Daddy filled with memory and sensitivity.Somewhere within the neurons connect and all of the pain and all of the hope and all of the memory and all of the tragic silent certainty of death comes howling into your heart and soul. I can't prepare anybody for that and do you know - I wouldn't want to. I would not want those moments to stop ever because when they happen I can.. feel her again. The tears flow and the emotions rage because in the end all of the techniques and all of the coping strategies and all of the logic is absolute nonsense. You lost the most treasured love you will ever know and you are not supposed to accept it - you are not supposed to block it - you are not supposed to forget it.

How to cope with those moments. Be grateful that you can feel. be grateful that you can remember. Be grateful that for 30 seconds she is with you again. That's the way I flip it to welcome the sadness because always, always, always when the tears stop , when the shaking stops, when the heart beats still again you are left with the warmest of feelings. You are left with the glowing memory of the reality of the child you lost

And every time that happens you find her again. I'm a soppy git - I see these moments as Estella coming to visit me and when she does ? She doesn't want to see her Daddy crying - she doesn't want to see him upset so if you ever see a wet faced Muppet singing Puff the Magic Dragon or Moon River driving down the motorway don't point and laugh too loud - it's just me or somebody like me remembering better days .

I don't know if any of that helps. I hope so. What I will say is what I always say. I will do what I can to rid the world of SMA but in the meantime if there are any parents that I can help in any way - then the answer is very simple. tell me where - tell me when and I'll be there.

Maria and I decided very early on not to go along to support groups and memorial groups and the like - it's not us. We visit Estella. We talk to her. We're even making another baby :) for her to laugh at and look after but as for dealing with losing Estella - we will not be able to do that ever. Part of being a Muppet Daddy and a Cuddly Mummy is refusing to accept that we have lost her. I don't particularly have religious views - sorry I don't - but what I do know is that life goes on, nature is beautiful and by some unbelievable wonderful quantum physics riddle of the universe kind of thingy - ( technical term ) I will hold her again . I will.

I miss her but she came to visit two hours ago. Tricky little Tinker.

 

 

 

 

CRISTINA ESTELLA

In am writing this two weeks before going to Spain for the birth of our daughter Cristina Estella.

Maria is already in Spain. I miss her so much and am writing this for her to read too.

We have done a lot in the last year to try to give SMA the kicking it has deserved and to keep my promise to my little darling to SMASH SMA.

When I say we have done a lot it has mainly been you that has done all the work.

There have been many highlights

• The government have met with us and agreed a consultation into SMA prevention and awareness
• SMA has been raised in the House of Commons and there has been a reception about this dreadful disease
• We have had the unswerving financial support of Morrison Facility Services who sponsored a banner at a football stadium in Estella's name and have provided so much more support.
• We have met with Pfizer and they have moved from a stance of not caring that SMA ( milk ) had the same name as SMA ( disease ) to selling their milk brand and giving 70 million to SMA research.
• We have forged links with The Jennifer Trust and the SMA trust and believe we have had a say in a far more constructive organised response to SMA research and support
• We have funded an assistant for the Tom Gillingwater SMA team in Edinburgh and continue to provide funds to the team that I believe are having major research breakthroughs
• We have had our story in the Sunday People and beyond thanks to the treasured involvement of Natalie Cassidy
• We have had the support of far too many celebrities to mention them all with over 1000 now having mentioned SMA on Twitter and facebook.
• We have 42000 Twitter followers and 3000 on Facebook
• We have provided funds to the Jennifer Trust and Bluebell Wood
• We have been gifted 1,000 wrist bands and envelopes to raise money for SMA research
• We have (sadly ) given advice and support to dozens of parents who have had their child diagnosed with SMA during the last year

But the real highlight

The real highlight is that we are having a baby next month who is free from SMA. The real highlight is that the most natural, gifted, wonderful Mum I have ever seen will be a Mum again and I can see her face smile. The real highlight is that we will never forget our little Tinker but we know that she has supported us on hundreds of occasions during the last year and she would want her Mummy to be happy. We are going to have a baby.

Maria has been an absolute rock throughout everything. I have seen her low but all she ever thinks about is her Mum and Dad and me and how we feel. All the while she is a Mum who lost her child. She is the best wife anyone can have but she is also a natural and perfect Mummy. Don't tell her I said so though :)

There's an elephant in the room question though. Somebody said to me the other day. How does it feel knowing you are going to be a Dad again? There's the question - because I can tell you this - I don't think that even during my darkest moments I have stopped being a Dad. When I was most down you wonderful people sent messages saying that I was still Estella's Daddy and that I always would be. There are no words to explain the good that your messages did.


I can't see my little girl anymore. I will never see her run or play or laugh . I never heard her say Daddy. I am sure having Cristina will be amazing and wonderful - and I'm not a fruitcake - I know she is a different child but as I watch her grow and as I play with her and as I tell her tales please forgive me the odd moment when I remember another little girl who was and always will be my entire world. I have thought long and hard about which songs to sing and which tales to tell and I have decided they will be the same ones because that way I can sing again and that way i can read again and that way both my little girls will always be with me . i hope that makes some kind of sense.

The biggest kicking we have given to SMA is to tell it that it will not end our lives and it will not take away every memory of my darling Estella and it will not stop us from loving and living again. I hope that at least one parent reads this who is currently in a dark place and if that's you I can tell you this...

The sun does rise in the morning. The pain never goes away
The memories will become kinder. You will smile again.

I know what you're thinking. How can you smile again without your treasure and isn't it disrespectful to them and their life for you to be happy.

It's a simple answer but one I walked thousands of miles for

It is disrespectful to them for you NOT to be happy.

My little girl looks down on me every day. She does not judge or think I have forgotten her because I groan when Manchester City lose. She does not think that I have better things to be bothered about than worrying about the snow. She does not mind the idea of another baby wearing her clothes and playing with her toys. Estella was not like that. She would want life to go on as normally as possible.

Do you know why ?

Because we loved each other then - and we still love each other now and didn't somebody once say

Love is never having to say you're sorry ?

It is disrespectful to them for you NOT to be happy.

In a couple of weeks time we are having a baby. We could not be happier

Every moment that we shared with Estella remains. Every morning play, every silly song, every heart rending stroke of her little cheek.

Take a look at the photo below. That's my big stupid hand and that's Estella's trying to grip my finger. That's Mr Giraffe watching.

I'm looking a my empty hand now and I can still feel the touch of her little fingers. If I close my eyes and try with all my heart I can still feel her hand in mine. Then she is not gone. Then she is always here.

And because she was here there may soon be other babies who can stay with their Daddy for a wee while longer. There may be other babies who will hear a few more songs and listen to a few more tales. Because Estella existed and because her spirit and her love continues to exist.


Take That,  SMA - she's beating you. Oh yes she is

 

 

 

 

 

WHEN I NEED YOU

This is an update of one of the very first postings I did just over a year ago. We get asked a lot by people wondering how they can help SMASH SMA. Hopefully the answers are here.

What needs to be clear right here at the start though is that I genuinely believe they are close to beating this dreadful disease and my single bottom line aim is that Estella's legacy is to save other babies from dying.


This isn't an entry where I am writing about Estella's as such. It's more a sort of FAQ for the type of questions I tend to get asked the most.

If you want the whole story in two minutes then this video tells all

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

Remember please the only expertise or experience I have is the events that happened over eight months last year with Estella. These are well documented. Much of what I say may be wrong and I am open to new ideas but this is where I stand today. I get approached on a regular basis by parents who have just been told their child has SMA. I don't have answers but I will tell you this - I will get in my car and drive anywhere in this country to talk to you if you think our experience can help.

The most common reaction when people hear about Estella and our experience is that they have never heard of SMA. This is not just people in the street it is health professionals , midwives , carers , - so many people who have never heard of the disease.

So that explains the first simple philosophy of the SMASH SMA campaign

IF SMA IS THE NUMBER ONE GENETIC KILLER OF BABIES AND 1 IN 40 OF US CARRY THE GENE THEN WE HAVE TO ENSURE THAT EVERYONE HAS HEARD OF IT.

This is the awareness raising stage. We are not doing a bad job here. We could do better if we really went for it with the media but I have explained my thoughts on that in another blog SMA AND THE MEDIA. Put simply we do not want this to be a half page story about us and a little girl who died. The story is bigger than that and we will make more of a commotion and have more impact if we avoid the obvious routes. I am convinced of that.

The second thing we want to do is to try to make sure that what happened to us does not happen to you and to others who are becoming parents. This is linked with awareness raising but it is also to do with PREVENTION - its a petition to the UK Government to introduce testing for SMA for all.

We started a petition to get screening for SMA but in the end this was not needed as by taking our campaign direct to parliament the government have agreed to conduct a consultation about SMA screening.

The thinking behind this is simple.

If 1 in 40 carry the gene then all women need to be told that they could be carriers and that a FREE test is available. The test is a simple blood test. If they are carriers then they have this information and can ask for any future partners to be tested. Remember it needs both parents to be carriers to have a 1 in 4 chance of an SMA baby.

If both potential parents are carriers then they may wish to examine IVF as an option to ensure that their child does not have SMA.

There is a test that can be done when the foetus is 10 weeks old that identifies if the baby has SMA. Obviously this introduces moral, ethical and religious debates. To be honest we want to stay out of such debates as we believe that parents have the right to make their own choices. Other tests are done at various stages that identify significant possible defects so why should SMA be any different.

As I said I do not want to get into the debates about 10 week testing which is why we are petitioning for a simple test that means people do not have to get to that stage. What I will say -and this is my personal opinion - is that knowing what we know now about Estella's life we would certainly have gone ahead with having her and knowing her. She was never in pain or distressed and was very loved.

We will need your support in the consultation.

The third way that we are trying to help involves raising research funding.

From the start we did not want to raise money for Estella - we thought that this was a far bigger issue. There are fantastic organisations out there and there is research already taking place. I believe that if we did nothing the cure for SMA is three to four years away on the horizon. I have a simple philosophy if Estella can bring that cure forward by one day then there will be less children and families who are touched by SMA and some of the children who have SMA already may be cured or have their lives considerably improved. Too late for Estella but what a legacy it would be if she and her story brought that cure closer.

We therefore support anything and anything that raises funding for SMA. There are many amazing organisations out there - all you have to do is google Spinal Muscular Atrophy and they pop up. An example of the success we are having is that the SMA milk company have contributed £ 25,000 to one of those organisations ( the Jennifer Trust ) and there will be much more in the pipeline.

We have now asked that any funding that we raise goes to Tom Gillingwater at Edinburgh University. The team there are working on SMA prevention and we have been to see them. Again this is explained in the blog. They need £ 50,000 this year and every penny you donate counts towards their research.

For full details read

https://edinburghuni.workwithus.org/Fundraising/Donate.aspx?page=7182



So that's awareness , prevention and research funding

We hear every day from parents who have children diagnosed with SMA. What I would say is that every case is different and every journey will be different. We will gladly talk about our own experiences and we will give any amount of time needed - but they are our experiences. They are documented well enough on the other pages here but please believe me I answer every single message we receive asking about SMA and Estella.

There are three ways we are trying to keep people up to date.

One is our twitter account. You can follow us on @estellastar1 - I answer every single DM and follow people who follow us. There are over 40,000 followers which makes this the single biggest SMA related Twitter account by far.

Two is our Facebook account - look up Estella Meansstar and you will find us

http://www.facebook.com/profile.php?id=100003101507661&ref=tn_tnmn

Third - you are reading it now - there is an even better blog available though from Cuddly Mummy
which is called NO MORE ANGELS

http://estellasweetman.blogspot.com/

I used to be very cynical about social media. I now see that it will help bring about a cure for SMA. We have had amazing celebrity support but also a number of people who have made #smashsma their mission. We have met some wonderful people on there. Intelligent and resourceful people who did not know Estella but fight for a solution to SMA every day. They know who they are - they are exceptional.

On a personal level I have to mention BLUEBELL WOOD as they were the hospice where Estella lived her last two months. I have said that fund raising is a separate issue but if anybody wants to send any funding in their direction then please read the story below and send them zillions. Estella had a childhood because of Bluebell Wood - simple.

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

Last of all - you. If you are reading this then I thank you. You are obviously well into SMASH SMA mode. If you have any ideas let me know.

Thanks xx

HAVE I GOT NEWS FOR YOU

PFIZER LISTEN AND DECIDE TO SPONSOR SMA CURE

You may remember that last January we had a couple of meetings with Pfizer , the drug company, to discuss the fact that they produced SMA milk. At the time we said that they should realise the effect that the name has on parents who have children dying from Spinal Muscular Atrophy. When they said that they would not change the name we suggested that they should be contributing to SMA research. They contributed £ 25,000 which we gave to the Jennifer Trust.

One year on and Pfizer have now announced that they will contribute $ 70 Million to SMA research through the company REPLIGEN who are working on an SMA medicine. In fact clinical trials of a new drug are starting in the first quarter of this year.

We could not be more pleased with this development and recognise that Pfizer actually do listen to people. They even sold the SMA milk brand.

We are , today, stopping the Shame on Pfizer campaign in recognition of the fact that they are now so instrumental in looking for a cure for SMA. Well done to everybody who contacted them last year

Government launching a consultation on screening for SMA and now this major funding development. I like the look of this 2013 !

Repligen Announces Licensing Agreement with Pfizer
for Spinal Muscular Atrophy Program

 January 03, 2013 – Repligen Corporation (NASDAQ:RGEN) announced
today that it has entered into an exclusive worldwide licensing agreement with Pfizer Inc. to advance
Repligen’s spinal muscular atrophy (SMA) program, originally in-licensed from Families of SMA
(FSMA). The SMA program includes RG3039, a small molecule drug candidate in clinical
development for SMA, as well as backup compounds and enabling technologies. Under the terms of
the agreement, Repligen is entitled to receive up to $70 million from Pfizer, commencing with an
upfront payment of $5 million and total potential future milestone payments of up to $65 million as
well as royalties on any future sales of SMA compounds developed under the agreement. SMA is an
orphan neurodegenerative genetic disease that presents early in life.
“This agreement is consistent with the strategic decision we announced in August 2012 to focus
Repligen’s internal efforts on the growth of our bioprocessing business, while seeking external
partners for our therapeutic development programs,” said Walter C. Herlihy, Ph.D., President and
Chief Executive Officer of Repligen. “We believe this collaboration with Pfizer, a leading
pharmaceutical company with specialized efforts in orphan and genetic diseases, has the potential to
accelerate the development of therapies for SMA.”“There is a critical need to expedite potential treatment solutions for rare diseases such as spinal
muscular atrophy, where patients have such limited options,” said Jose Carlos Gutierrez-Ramos,
Senior Vice President, Pfizer BioTherapeutics R&D. “This partnership will combine our expert
capabilities in advancing molecules for genetic diseases with Repligen’s leading SMA program.”Under the terms of the agreement, Repligen is responsible for completing the first two cohorts of an
active Phase 1 trial evaluating RG3039 in healthy volunteers, which it anticipates will occur during
the first quarter of 2013. Repligen will also provide certain technology transfer services to Pfizer who
will then assume full responsibility for the SMA program moving forward, including the conduct of
any registration trials necessary for product approval. Repligen has previously received U.S. Orphan
Drug and Fast Track designations for RG3039 for the treatment of SMA, as well as Orphan
Medicinal Product designation in the EU.

 

About Spinal Muscular Atrophy
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease in which a defect in
the SMN1 (survival motor neuron) gene results in low levels of the protein SMN and leads to
progressive damage to motor neurons. It is the leading cause of infant mortality and the second most
common inherited neuromuscular disease, with symptoms that typically emerge before the age of
two. SMA is characterized by progressive muscle weakness leading to severe physical disability and
often, early loss of life due to respiratory insufficiency.
About Families of SMA
Families of SMA is the world’s leader focused on funding SMA research to develop a treatment and
cure for the disease. The successful results and progress that the organization has delivered, from
basic research to drug discovery to clinical trials, provide real hope for families and patients impacted
by the disease. The charity has invested over $55 million in research and has been involved in
funding half of all the ongoing novel drug programs for SMA. Families of SMA is a nonprofit
501(c)3 organization, with 31 Chapters and 90,000 members and supporters throughout the United
States. The organization’s work has produced major discoveries, including identification of the
underlying cause and a back-up gene for the disease, which provides a clearly defined target for
disease altering therapies. The organization is also dedicated to supporting SMA families through
networking, information and services and to improving care for all SMA patients. For more
information: www.curesma.org.
Repligen Announces Licensing Agreement with Pfizer for Spinal Muscular Atrophy Program,
January 03, 2013

About the Muscular Dystrophy Association
The Muscular Dystrophy Association (MDA) is the leading nonprofit health agency dedicated to
finding treatments and cures for more than 40 neuromuscular diseases, including SMA, by funding
worldwide research. MDA also funds comprehensive health care and support services, advocacy,
information and education, and accessible summer camp for thousands of youngsters fighting
progressive muscle diseases. To date, MDA has invested more than $41.6 million in SMA research,
funding basic research and clinical trials of therapeutic strategies such as gene-based therapies, smallmolecule
development, and stem cells. MDA, along with other SMA patient advocacy groups, has
been working with policymakers to explore the potential of expanding newborn screening panels to
include SMA. For more information, visit mda.org and follow MDA on Facebook
(facebook.com/MDAnational) and Twitter (@MDAnews).
Repligen Corporation
Repligen Corporation is a life sciences company focused on the development, production and
commercialization of high-value consumable products used in the process of manufacturing
biological drugs. Our bioprocessing products are sold to major life sciences and biopharmaceutical
companies worldwide. We are a leading manufacturer of Protein A, a critical reagent used during the
production of monoclonal antibody therapeutics. We also supply several growth factor products used
to increase cell culture productivity during fermentation. In addition, we have developed and market
a series of chromatography products used in the purification of biologics, and sell test kits to ensure
final product quality. Aside from our core bioprocessing business, we have a portfolio of clinicalstage
partnering assets, including a pancreatic imaging agent in Phase 3 development and two central
nervous system orphan drug candidates. Repligen’s corporate headquarters are located in Waltham,
MA, USA; we have an additional manufacturing facility in Lund, Sweden. For more information,
please visit our website at www.repligen.com.