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.

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.