http://www.eurekalert.org/pub_releases/2008-10/uom-sch102808.php

http://www.sciencedaily.com/releases/2008/10/081029104313.htm

GENE THERAPY DELIVERY VEHICLE PROVEN TO WORK ON DOGS

Good news in the world of MD research. A team of University of Missouri researchers, led by Dongsheng Duan, has proven that a viral delivery method previously proven to work in mice (i.e. the vehicle to carry any future gene therapies into the muscles of MD patients) can reach every muscle of the body in a large animal model, and also that this type of therapy will work on both skeletal muscle, the type found in arms and legs, and cardiac muscle, such as the heart. The research on mice models was posted back in 2002, and the successful transference of this research into a larger animal is very encouraging (mice are 250 times smaller than dogs, but dogs are only 9 times smaller than humans).

I am often asked to describe the experience of raising a child with disability - to try to help people who have not shared that unique experience to understand it, to imagine how it would feel.  It's like this......

When you're going to have a baby, it's like planning a fabulous vacation trip - to Italy.  You buy a bunch of guide books and make your wonderful plans. The Coliseum.  The Michelangelo David.  The gondolas in Venice.  You may learn some handy phrases in Italian.  It's all very exciting.

After months of eager anticipation, the day finally arrives.  You pack your bags and off you go.  Several hours later, the plane lands. The stewardess comes in and says, "Welcome to Holland."

"Holland?!?" you say. "What do you mean Holland?? I signed up for Italy!  I'm supposed to be in Italy.  All my life I've dreamed of going to Italy."

But there's been a change in the flight plan.  They've landed in Holland and there you must stay.

The important thing is that they haven't taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease.  It's just a different place.

So you must go out and buy new guide books. And you must learn a whole new language.  And you will meet a whole new group of people you would never have met.

It’s just a different place.  It's slower-paced than Italy, less flashy than Italy.  But after you've been there for a while and you catch your breath, you look around.... and you begin to notice that Holland has windmills....and Holland has tulips.  Holland even has Rembrandts.

But everyone you know is busy coming and going from Italy... and they're all bragging about what a wonderful time they had there.  And for the rest of your life, you will say "Yes, that's where I was supposed to go. That's what I had planned."

And the pain of that will never, ever, ever, ever  go away...because the loss of that dream is a very very significant loss.

But... if you spend your life mourning the fact that you didn't get to Italy, you may never be free to enjoy the very special, the very lovely things ... about Holland.

Hi Y'all

Just caught a link to this story from the press in the US... Funding for a research centre which will be addressing 3 key research objectives relating to gene therapies for MD.

http://www.bizjournals.com/triangle/stories/2008/10/06/daily26.html?b=1223265600^1713258&brthrs=1

Watch out for changes on the events tab with news of all of our recent events and how much they raised, and exciting information on upcoming events you might like to get involved in!

Tracy

Sam - I look into those big blue eyes of yours and my heart melts...

You have been through so much already in your little life.

Please understand no matter how this turns out, we are doing all of this so we can tell you we did everything in our power to give you a long healthy life with all the opportunities you deserve.

And even if it doesn’t go exactly our way, we will always be here to help you find joy and we promise there will be plenty of it.

The world is very hard and unfair sometimes, but you are SO loved.

There are so many people who will do anything to help you and hold so much hope in their hearts for you.

Only someone so special can move & inspire so many others...

from Mummy and Daddy

Gayle sent this to me and I thought it might strike a chord with some of you.

Before I was a Mum...

I never tripped over toys or forgot words to a lullaby.

I didn't worry whether or not my plants were poisonous.

I never thought about immunizations.

Before I was a Mum -

I had never been puked on.

Pooped on.

Chewed on.

Peed on.

I had complete control of my mind and my thoughts.

I slept all night.

Before I was a Mum

I never held down a screaming child so doctors could do tests.

I never looked into teary eyes and cried.

I never got gloriously happy over a simple grin.

I never sat up late hours at night watching a baby sleep.

Before I was a Mum

I never held a sleeping baby just because I didn't want to put him
down.

I never felt my heart break into a million pieces when I couldn't stop
the hurt.

I never knew that something so small could affect my life so much.

I never knew that I could love someone so much.

I never knew I would love being a Mum.

Before I was a Mom -

I didn't know the feeling of having my heart outside my body.

I didn't know how special it could feel to feed a hungry baby.

I didn't know that bond between a mother and her child.

I didn't know that something so small could make me feel so important
and happy.

It has been a very blue day... I have been searching the hidden depths of the internet looking for hope - and failing miserably.

Last week I came across the results of a research project carried out in 2005 where the lifespan of mice engineered to have symptoms of merosin deficient CMD were significantly increased by delivering a protein which could substitute for the missing merosin. This minituarised protein, 'miniagrin' was delivered systemically (injected into the abdominal cavity) and also administered by viral vector (a disarmed virus used to shuttle genes into cells) - all sounds very complicated - but basically they found that muscle cells were able to assimilate and copy the genetic instructions for making the substitute protein.

The researchers concluded that this was promising work and that, although they have much further to go until they can say if gene therapy can work in children this at least gives a glimmer of hope. So - all enthused I contact the researchers to find out what happened in their subsequent research and BOOM - down to earth with a dull thud. "No funding for continued research." The head researcher is now working on a cure for Duchenne as people are tripping over themselves to fund that, and the second researcher has been trying to get funding but finding that every door is closing on it. She says that she is going to have to switch to DMD research as it is just impossible to get funding for research into CMD.

WHY DOES NO-ONE THINK THAT THIS DISEASE IS WORTH CURING??????

Over the weekend I also found 4 other families whose children are suffering from merosin deficient congenital muscular dystrophy. I remember thinking when they told me that this was what Sam had that it might not be as bad as DMD - I was wrong on that one too. One little girl is 4 and only ever walked for a few months before her weight got too much for her failing muscles to be able to support (she looks like a wee feather she is so light)... Now she cannot even sit without support, she has severe scoliosis and is on a respirator. the others range in age from 6-10 and their stories also fill me with dread.

William and I were talking about this the other day - the harsh reality is that these are probably the best times we will have with Sam, and we need to really appreciate that and savour every minute. He makes me laugh every single day - he is the most quick-witted two year old I ever met. It terrifies me to think that one day (however near or far away) his bright light might be trapped inside a withering twisted body. How do you even begin to get your head round that?

Its been a little while since I posted to the blog... We are currently in Florida, where our older son, Callum (about to turn 6) is undergoing intensive therapy for his condition (severe global and oro-motor dyspraxia, dysphasia, verbal apraxia, sensory motor disorder - the list goes on). At almost 6 years of age he is unable to communicate verbally, and the therapy we are doing here is not available in the UK or Europe... So we are financially, emotionally and every other way stretching ourselves to the limit to try to give him this chance... Its slow progress - but its progress.

We had more news on Sam's diagnosis... And it has been hard to get our heads around it. It will soon be a year since that awful day we had the CK test come back showing that he had some form of muscular dystrophy. As you know, the biopsy in January showed a problem with dystrophin and also with other proteins, so it was sent to Newcastle for futher analysis but was destroyed as it had not been stored correctly and thawed out before the pathology team could do their work on it. After this frustration (and being lied to about what had actually happened - we were told initially that the results were inconclusive when as it turned out the muscle was never actually examined) a piece of muscle was found in the freezer at the Royal Hospital in Belfast - which they 'thought might possibly belong to Sam'. After testing to determine that it was indeed Sam's muscle further tests showed that he is suffering from a very rare form of Musculatr Dystrophy - MEROSIN DEFICIENT CONGENITAL MUSCULAR DYSTROPHY. Like DMD it is caused by a problem within the DNA which renders the body incapable of producing a vital protein for muscle structure and maintenance - in this case Merosin (otherwise referred to as Laminin 2A / dystroglycanopathy). Some kids are unable to produce any merosin at all and they are never able to sit unaided, stand or walk. It seems that since Sam has been able to do all of these things that it is more likely that he is producing some merosin and that it is either insufficent in terms of quantity or quality (or both)... We are now waiting - AGAIN - for more test results - this time on his DNA to determine the precise genetic fault.

Because this form of MD is so rare it seems that there is little evidence available to enable doctors to make an accurate guess as to how seriously affected he will be. We do know that kids who walk sometimes lose that ability - like with DMD - as their bodies grow and their muscles degrade. Respiratory problems are also common with this type of MD. What is even more depressing is that there are so few sufferers that it is not considered a worthwhile investment of research resources to find a treatment or cure for it. Therefore we will be trying to chance this - and to hopefully give him a chance.

He has made some progress in the last few weeks - being able to finally get himself ingto a standing position without help, but in the last few days he has regressed again which is terrifying. Its hard to stay calm and to be rational when you are so afraid, and when it seems that fate just wants to kick you again and again and again. I am just so sad for my 2 little boys...

Tracy

Just to let you know that to date the parachute jump has raised almost £6,000 with 6 peoples sponsor money yet to come in...

Other fundraising events which have taken place over the past few weeks have raised the following amounts:

Something Different Coffee Shop (Knockmore Rd Lisburn): £40

Stepping Stones Coffee Shop (Lisburn): £14

Brenda Dolan - Coffee Morning: £261

Jack in the Box - Coffee Morning: £93

Starburst Theatre School (Lisburn, Antrim & Ballyearl): £550

We have also had some very generous donations form individuals and a few from companies - this has significantly boosted the S.A.M. bank balance.

Please remember that we are a zero cost charity. This means that every single penny raised goes to the researchers to help find treatments and eventually a cure for D/BMD. We have no salaries, overheads, admin costs, etc. If you can help us to keep this zero cost base by donating your time, expertise, products or services please let us know!!

Many thanks to all involved!

Tracy

We have just got back from Newcastle where on Tuesday Sam was seen by Professor Kate Bushby and her team at the Centre for Life. Professor Bushby is one of the UK leading experts on neuromuscular diseases. It was a challenging road to get the appointment and thanks to our MP Jeffrey Donaldson for his support in making this happen. The Professor and her team thoroughly observed and examined Sam in terms of his abilities and physical limitations. The second muscle sample which was received by the lab seems to be viable with regard to examining it to assess further how much dystrophin Sam has in his muscle. This will give us a better idea if he lies at the Duchenne or Becker end of the scale. Guys have almost finished their examination of Sam's DNA, and we may have some results from this next week. Again, this will lead us closer to a diagnosis as it will tell us the exact mutation in the DNA. If this mutation is on the FKRP gene then it means Limb Girdle Muscular Dystrophy and if it lies on the Dystrophin gene then we are looking at Duchenne / Becker. So it will be a difficult few weeks as we await the results.

Thanks to Paul at the Dromore Leader for the article in this weeks paper. I have heard from a family in Texas who are going through a similar experience to our own - they picked up the article via a Google alert - the wonders of the internet - it makes the world so small!! Tragically I have also heard from a local family in Dromara who are going through the process of diagnosis with their little boy. This is not a nice club to be part of, but I hope that there is some comfort in knowing that we are not alone. I hope that I can provide this family with some help and information as they face this daunting journey and quest for answers.

Paul Bennison - thank you for providing me with strength and hope. God bless.

Congratulations to Kate who raised well over £200 for the campaign at her birthday party last week!

Lots of love

Tracy

Just a quick update on how things are going...

We now have over 25 people registered to jump for SAM on 14th June!!! Tallyho! Hope the sponsorship is going well!

The Committee also have pulled together a fundraising strategy for the year ahead - which will be on the site soon. We really want to encourage people to run events to raise awareness and funds for SAM - we have a fundraising pack on the site on the 'How can I help' tab where you will find posters, sponsor forms and some great ideas for events you can run to help out.

We are also getting some really good press coverage - Irish News did a story this week on our plans to take Sam over to London on 18th June to joing other D/BMD sufferers in a parliamentary lobby. You can all help by downloading the letter template on the site and sending it to your MP. We want to create political pressure to get funding for muscular dystrophy onto the political agenda. It will only take 2 minutes of your time and the cost of a stamp.

Sunday Life are doing an article for us on the charity and the campaign, and watch out for coverage in the Banbridge Leader and the Ulster Star over the next few weeks.

As for Sam - well, he is making slow steady progress with his walking - he is getting a little steadier and stronger, which is good. It is sometimes hard to stay positive as I know that the terrible appetite this disease has for his muscles will cause him to lose the ability to walk perhaps in just a few short years... That is why it is CRITICAL that we do as much as possible to raise funds NOW - once these boys muscles are gone it is too late. It is - indeed - a race against time.

Please continue to tell people about the charity and the campaign and contact us if you feel that you can help in any way. If you know other families affected by this condition please ask them to get in touch with us on info@pleasefixsam.com

Tracy x

Just wanted to take a few minutes to say some thank-yous!!

Neil - you have done such a fantastic job on the website - the feedback has been great and I thank you for all your hard work and fast turnaround every time I email you!

The pleasefixsam Committee - well done in helping us get this off the ground - and get yourselves geared up for lots of hard work ahead!! I am so proud of all our friends! Thanks to the Raddison and Malmaison hotels for offering us rooms for our meetings! Mark - thanks for coming up with our name (Struggle Against Muscular Dystrophy) and Simon K - our 'Fixer' - you are brilliant!

And thank you so much also to those of you have been raising funds for the parachute jump - we almost have our target number of jumpers - anyone else mad enough to throw themselves out of a perfectly good plane please email and let us know... And Lisa & the Madabout gang - hope the blisters aren't getting you down!

Donations have already started to come in on the Just Giving site and also through cash and cheque donations - a huge thank you to our first generous donors....

Many thanks to Neil Greenlees from the Ulster Star for the wonderful article in this week's paper. A very emotional read...

Tracy

Hi everyone and welcome to the Please Fix Sam Website.

I hope that you will find the information on the site to be informative and useful. We are just devastated that our wee man has been diagnosed with a severe muscle problem. We are currently awaiting further information on his diagnosis - his DNA has been sent to Guys Hospital in London and they are trying to find out exactly what the genetic error is which has caused him to have this awful disease. At the moment we have been told that the 'working hypothesis' is that he has Becker MD, but we just don't know for sure. There is an outside chance that he may have a form of Limb Girdle MD, and also a chance that it might be Duchenne.

We will use the blog to keep you all updated on Sam's condition and diagnosis.

If you are a parent whose child is currently going through the process of diagnosis or if they have been diagnosed with MD - please get in touch with us via the 'Contact Us' page.

Lots of love

Tracy x