LONDON CALLING

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

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

This is an opportunity to

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

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

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

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

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

Spinal Muscular Atrophy Awareness Reception

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

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

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

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

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

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

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

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

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

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

YOUR NAME XXXXXXXXXXXXXXXXXX

Please take a moment to send that to your MP

 You can find their details here

http://findyourmp.parliament.uk/

Last thing for this blog.

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

KATIE FUTURE STAR

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

Estella Star Scholarship Report

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

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

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

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

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

Katie Hoban

FIRST STAR I SEE TONIGHT

They say a picture says a thousand words. Well here's my novel.

STRAWBERRIES, CHERRIES and AN ANGEL'S KISS IN SPRING

For everything there is a season and a time for every purpose... under heaven

Following the death of our daughter , Estella, last November I knew two things. I knew that I had to do what I could to alert the world about SMA and I knew that Maria had to one day become a Mummy again.

I'm OK at this Daddy lark. I have my moments but Maria is a natural. She cared for Estella with such love and devotion and ever since we had to say goodbye to her I have seen a Mummy who has had her soul and heart ripped away. It was essential that this devotion should have a child to be bestowed on.

We had made our peace with a number of things during those sad, beautiful, tortured, memorable days that Estella was dying. I had sat by her bed and explained to her that although we would want another child they would never replace my Tinker in my heart. I asked her permission to let life carry on and asked her to give signs that she was OK. Of course there was guilt with wanting another child - of course there have been moments when I have asked if it is fair. Of course Estella was my cheeky monkey.

We were originally going down the IVF route. By doing that we could guarantee that our next child would not be cursed with SMA. After a couple of months of discussion though we decided that the odds were low and that the route had its own problems. So in May we decided to go for the natural method and to hope ...

And that's what we did.

The odds were in our favour but still amazingly scary.

By the natural method there would be a 1 in 4 chance that a new baby would have SMA
There would also be a 2 in 4 chance that the baby would be a carrier of SMA

Then things got worse

Maria was told that her reserves were low. On the score system they use she needed to be 16 and above to be fertile. She was a 2.

Maybe all options had gone

Within three weeks of trying Maria told me one morning that she was pregnant.

And then the waiting began

At first the wait was OK. We knew that the odds were probably in our favour and rested on that but as time went on we started to worry more. Maria told me every morning how big the baby was a pea, a bean, a cherry, a strawberry and she was also being incredibly sick.

This was becoming real

No test can be done on the placenta DNA until the 11th week. When that test is done the result takes about another week. We were clear - if this was SMA then we would have very difficult decisions to make. If we chose termination it would be done within a day or so.

The problem was though that we had already seen the little bump twice on a scan.

The shape was very clear. The hands , the legs, the head and the beating heart.

Last Tuesday we went to do the examination that would decide the future. While they took their sample through a very big needle poked into Maria's tummy the bump was kicking its legs and waving. I sat watching and saw it wave. I thought it was waving goodbye.

We knew that we had to wait until the following Tuesday for the result.
Yet this Friday morning when we woke up ( yesterday ) we knew that this would be the day.

Maria received the phone call at work and rang me.

It was healthy and it was a girl.

And in that moment the rooms and the conversations and the tubes and the held hands and the smiles and the heart stopping moments and the bluebells and the songs and the rhymes and the tears and the goodbyes and the decisions and the revisions and the nights and the bent knee prayers and the cuddles and the dreams and the dragons and the lights and the dawn and the last gentle touch of her gorgeous hand - in that moment all the moments became a  moment.

and I felt nothing but calm.

We are going to have  a baby girl next February. The baby will arrive on , or around , Estella's birthday.- if there's anything that tells me that Estella is cool with that then that is the fact.

When Estella was very ill Maria made her a very fanciful promise. She said that we were sorry that we had made her a body that was so little and beautiful but did not work. She said that we would go away and build her a little body that did work.

and we're not stupid and we're not deranged we know that this is a new baby and we know it's got its own personality and its own ways - we know that it's not Estella - but I tell you this - when she raises an eyebrow at my singing or smiles when I cry then maybe , just maybe the world will stop for a second and we can all remember our greatest human achievement - the capacity for wonder.

We are happy beyond words

For clarity though

The fight against SMA was never about us, or Estella

It was about the generations yet to come.

This baby has not got SMA - we got lucky

But as long as there are babies who are born with this horrendous disease I'm gonna keep telling people about it. I'm going to complete wish number two.

Wish number one - Maria will become a Mum again ( box almost ticked )
Wish number two - SMASH SMA - still working on it

Last thoughts

I'm about to go on a great adventure. At the end of the rainbow I become a Daddy again. Tomorrow morning though I am going to see Tinker and I am going to thank her

and I am going to take her a toy

and I am going to tell her that I love her more than anything in the whole of creation

Because I have to take care of her

Because she takes care of me

Fair

PS

There are a couple of people reading this that I want to say sorry to. One of the hardest parts of the last 9 weeks has not being able to tell them what was happening or ask their advice or seek their support. I hope they understand.