Fri, Oct 23, 2015
Same Name With the Same Passion
Category: General
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From one of our Italian MTM families (in his own words)
“October 17, 2015, a day which will remain in our minds forever.
Thanks to Alison and to her friend we lived a special day. We had an exciting afternoon where we could support our soccer team, Association Sportivo Roma in the stadium in Rome for a match-and we were V.I.P. for a day.
Some months ago, after reading our story, Francesco’s Journey, Alison understood our passion for the Roma soccer team, especially Francesco’s passion for this team, and for its colors, yellow and red.
She had an amazing idea - try to organize a day in the stadium for us and Francesco. Alison asking her generous friend who is involved in the Roma team management and a generous donor for the MTM research to make our wish come true.
Before the match of the October 17, 2015, I was reached by the Roma team Security Management who organized the day for us. During the trip towards the stadium we were already excited. It was the first time for Francesco and for his mom, Marta to see a match and they were really excited along with me and Uncle Matteo.
When we arrived at the stadium, due to a special pass, we could arrive with the car very close to the entry, in order to have no problems with Francesco and with his stroller.
Then, a kind steward escorted us in the V.I.P. area, where there were our seats!!!! Fantastic!!!! I said aloud as soon as I realized where the seats were. We were very close the court and very close to the Roma coach. We could also taste some delicious food because in that area there was a fantastic buffet.
The excitement was enormous when we reached our seats. Francesco was amazed to see so many people, to hear such beautiful choirs, and to see so many colored lights.
The team played very good. In fact the final result was 3 goals versus 1 for our team. Everything was perfect and the feel was amazing.
Furthermore, Francesco had a gorgeous gift from the most important Roma players of these last years, Francesco Totti, who gave his signed team T-Shirt to our Francesco. The same name for the same passion- Roma soccer team!!!!
An incredible and amazing gift!!!!
I have to thank Alison, her friend, and all guys who have allowed that our dream come true.
Thank you Alison, and thank you … Alison’s friend.”
Daniele, Marta and little Francesco.
Thu, Oct 08, 2015
Massi's Muscle
Category: General
Massi's Muscles
July 2014 was the month I was due to have my third and lucky last baby. Our family was a conventional family (2 adults and 2 kids), Myself (Anna), My husband Christian and our 2 beautiful boys, Luca 8 and Leon 6. We live in Sydney Australia.
We had tried for years to fall pregnant with number 3 and we were stoked when it finally happened. My pregnancy was normal and apart from my worry and concern, seemed fine to the midwives, sonographer and doctors. I kept telling myself not to worry but even expressed my concern to my close friends and family. I would say “I can’t wait to get him out and see that he is ok” and the good old “its not the delivery that matters, its a healthy baby”. I think it was about 37 weeks when I started feeling super concerned and cried my eyes out to a midwife who took notes and tried to reassure me that I’d had two healthy babies, there was no reason to feel worried. At 40 weeks it got to me so much that I called the hospital worried that my baby had stopped moving and they had me come in straight away. The next day I was induced and had an amazing 3 hour natural birth in a maternity hospital with the same midwives I had for my other boys...
It was to be the calm before the storm...
To read the full story from Anna Mencio click here.
If you have a family story you'd like us to feature, please email me at alison@joshuafrase.org.
Mon, Jul 13, 2015
Francesco: A story in a name
Category: General
A story in a name … Francesco
We are Italian and we have lived in Rome since our birth, we have always been living our life like many other people … family, job, friends … and waiting for a baby.
We have been waiting for a baby for many years … then … when we discovered that a baby was growing up in my wife … with a great surprise we saw the calendar … and it was the October 4th … the celebration day of Saint Francesco … the most important Saint in Italy. We had not doubts … our son would be Francesco !!!
The nine months after passed without problems … a beautiful period … waiting for Francesco … imaging his little face … having many dreams with him … then … when the evening of the June 5th 2012 we went in the hospital for the birth … we couldn’t imagine that we would return at home after one year !!!!
Francesco wasn’t able to breathe at the birth … he was practically dead. His Apgar index was 0 !!! But he showed immediately his strength because after one minute, even with the help of pediatricians his heart started to beat !!! Francesco was with us …
Francesco spent his first seven months of life in the NICU in Rome … during this period he had a muscular biopsy due to a heavy weakness … and so we had the diagnosis … MTM1 X-linked Myotubular Myopathy … a new world for us !!!! We were frightened but with the help of some amazing doctors … with the love of some beautiful other parents which we have known in the hospital … and with the time … we were able to accept this rare disease.
During the long period spent in the hospital we have met many beautiful persons … many amazing parents … of fantastic babies … with many rare different diseases … many of these at the moment are at home surrounded by their parents’ love … many others are above our heads … together many other little angels.
Francesco spent other four months in the hospital but out of NICU.
Finally, 10 days before the first Francesco’s birthday we came back to home … our home … Francesco’s home … it was an enormous emotion … he could sleep into his little bed … with his teddies … and surrounded by his parents’ love.
Our beautiful journey started there … obviously started that night of June 2012 but really started the first day at home.
We have learnt to manage Francesco, the long period in the hospital was an useful training period for us … but we found a valid aid through Internet … because we found some international charity organizations like “Joshua Frase Foundation” where we found many helpful advises from many MTM families all around the world … and we understood an important thing … that we weren’t alone in this particular journey.
Francesco now is a beautiful three years old child, amazing like all our MTM warriors, he has lived with his tracheostomy, with his gastrostomy tube, with his few muscular strength but with his much inner strength.
He is a happy child, with a beautiful smile on the face, is a very curios baby and he likes very much reading books and obviously playing with kids games on the iPad !!! He likes watching cartoons and supporting our soccer team … Roma team !!!
He likes so much the music … he has a great sense of rhythm … every time he listens any type of music he starts to move his body … this is an amazing way to communicate for him … we think that he’s searching for alternative ways to communicate with the world around him … and we are learning together him to understand all his needs.
He even loves get around together with us on his stroller … red like a Ferrari … to discover the world … the sea, the big trees … the animals … the mountains … he always is very careful and he watches everything with curiosity.
At the moment he is learning to drive a little wheelchair … with his delicate arms he can move himself into our home … it is a beautiful sensation for us … many tears rolled down from our eyes his first time on the wheelchair.
We want thank some amazing charity organizations like “Joshua Frase Foundation”, or “Where there is a Will there is a cure” and the English “Myotubular Trust” for their hard work in order to raise money for the research … giving to all of us the hope in a cure.
We would like to thank even many families which we have known through Internet … Facebook or through charity’s websites … to show to us that it is possible having a beautiful life even with this type of problems … they give to us the strength to carry on.
We hope in a very close cure … to give to all our guys a brightness future.
At last, this is not a simple life and maybe it is not the life which we have been imaging … but we are not alone … and also living with many problems you can find the happiness … it is enough watching the Francesco’s smile …
We can summarize our journey in a short sentence … Francesco, with his life, is teaching to all of us how approach the life … after his birth we don’t worry anymore about little problems … at the moment little troubles are not important for us … we try every day to enjoy of every moment together our Francesco … thanking God for him.
We don’t know our future and Francesco’s future … we only think for today !!!
Finally, we want close this little story with a beautiful sentence of an amazing friend … Stacyanne … “weak bodies hold the mightiest of spirits !!!!”
Daniele, Marta and Francesco
Fri, May 29, 2015
Audentes is looking for families
Category: General
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 photo credit: Levi Gershkowitz - at a photo shoot with Emi We have an exiting opportunity for you! Would you like your son’s story to be included on the Audentes Patient Advocacy website? They will be telling the story of six more boys of all ages with XLMTM in the coming year. Levi Gershkowitz, a professional photographer who focuses on patients with rare diseases, will be at the MTM-CNM Family Conference to meet with you and to get to know your son and your family. You can view his work here, it's amazing! I honestly can't say enough great things about what this man does with his camera - he captures the heart of our kids, and you can't ask for more than that! The website photographs will be taken in your home at a mutually arranged date, and you will receive copies of the edited images. If you are interested, please send the following information:
Please email this information to Barbara Wuebbels, Vice-President of Patient Advocacy at Audentes Therapeutics at bwuebbels@audentestx.com. The deadline for applications is July 1, 2015. If they receive more than six letters of interest, Audentes will draw names at the Family Conference. As you may know, JFF also has a page for families to share their journey with MTM/CNM. If you'd like to have you story highlighted on the Joshua Frase Foundation's website, just send us your favorite picture and a paragraph or two about your family - or your journey with MTM/CNM - and we'll have it posted! Always for the children,  |
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