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.