Always for the Children

JFF Blog

Tue, May 02, 2017

2016 Year In Review

Category: General  

 

Doing something always requires faith. Accomplishing something often requires miracles. Bridging the two is what leads to transformation. 

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Sun, Feb 19, 2017

Gene therapy treats muscle-wasting disease in dogs

Category: General  

Transfer of the MTM1 gene into the weakened muscle tissue of dogs affected by myotubular myopathy restores muscle strength. The disease arises from a genetic mutation that disrupts the production of a protein needed for muscle function, Replacing the gene appears to be corrective. Click here to read the press release. 

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Mon, Feb 06, 2017

Former Jacksonville Jaguars owners champion for rare disease

Category: General  

 

One little boy, who was granted just 15 years on this earth, touched a lot of people for the good.


Joshua Frase was born with myotubular myopathy (MTM), a rare genetic mutation of the MTM1 gene that makes it difficult for, primarily males, to crawl, walk and breathe on their own. His parents, Paul Frase, a former NFL defensive lineman for the Jacksonville Jaguars, and wife, Alison Rockett Frase, founded the Joshua Frase Foundation when Joshua was born with the disease.

Typically 70 percent of children born with MTM never celebrate their second birthday.

“My son Joshua’s Journey was a struggle between life and death,” said Rockett Frase. “His perseverance and character gave us guarded hope that he would live and not die. He inspired us to raise awareness and forge a path to find a cure for him and his peers.”

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Tue, Jan 10, 2017

The Greatest Gift is the Gift of Hope

Category: General  

The greatest gift is the gift of Hope! 

This is a season for hopefulness.  The Joshua Frase Foundation has been faithful with your investment to find the most advanced research available for congenital myopathies and myotubular myopathy.  Will you partner with us financially as we move into this critical stage of several research initiatives?

Dr. Dowling is a neurologist and scientist at SickKids. In September 2016, he was appointed as the inaugural Mogford Campbell Family Chair in Clinical Neuroscience for his work in congenital myopathies (a broad term for any muscle disorder present at birth). 

Dr. Dowling and his team have discovered a drug, previously used as an anticancer agent, that has shown to increase muscle strength and survival in pre-clinical studies. We are in the process of moving into clinical with children and we need your help. 


By making a gift before the end of the calendar year, you can put your contribution to excellent use immediately.

To learn more about this study please ~ download this document

Wishing you and your families a blessed holiday season! 

The Joshua Frase Foundation
   

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Thu, Dec 15, 2016

Share Our Hope...

Category: General  

Dear Faithful Partners,

It is hard to believe it has been 21 years since Joshua was born and that this Christmas Eve will mark 6 years since his passing. 20 years ago the Joshua Frase Foundation (JFF) asked donors to invest in a guarded dream of one day finding a cure for myotubular myopathies. In those early years, our dreams as parents were laden with a distant hope, and a plea. Today, it is a proven science, moving closer to a cure. This dream has become a reality, only because of your help and investment.

We have learned that a message of hope can infiltrate the impossibilities of modern science.We have learned that new breakthroughs only come from pushing the boundaries of science beyond perceived limitations. We have learned that among the tireless efforts of many, science has no limits, and answers come to those who seek. In the case of myotubular myopathy research, the answers are coming in more than one form, and more than one scientific technology.

When we first viewed the video sent to us by one of our researchers showing the crippled mouse flourishing after one injection of gene replacement therapy, I was brought to tears, thinking: could this be a potential treatment for our son? Looking back on what has transpired in less than 10 years, I am in awe and I am humbled by those of you who invested in this guarded dream. You have given without hesitation, and you’ve trusted us to search out the most promising science, and we have been faithful with your investment dollars. This ultra-orphan disorder was brought to a pre-clinical stage of research with less than 10 million dollars. Within the scientific community, this is no small feat.

On the horizon…

JFF continues to live in the trenches of patient advocacy. I am reminded daily that this disorder knows no bounds. It is not a respecter of persons. It touches every continent and every walk of life.

Despite this reality, our goal of funding efforts to find therapies and a cure remainssteadfast. One of our long standing donors, Amy Groshell, says this of JFF, “JFF has been the search engine for the research and advocacy circles; connecting the dots so viable research has a practical outcome…The foundation has been the catalyst that has brought the research community and families together moving toward a cure.”

You all have been “our foundation”. However, there is work that still needs to be done and we are asking that you partner with us financially as we move into this critical stage of several research initiatives. Here is one of our important initiatives, Click here to view.

Our commitment to cover all the initiatives is set at 1 million dollars. This investment will be used to support our foundations programs of patient advocacy, clinical trials for a small drug molecule, and another very promising therapy is on the horizon. Additionally, the Joshua Frase Foundation has partnered with the National Christian Foundation (NCF) to allow proceeds to be given through asset-based giving. This can allow you to give through a tax bill rather than cut into long-term savings.

If you are interested in giving through wealth instead of income while reducing capital gains in tax, please contact Michael Crane at Michael@mwmlpl.com or by phone at 904.345.2047. On behalf of our foundation, our families, our researchers, and all the Joshua’s of the world, we thank you for your faith in our cause.

Wishing you and your families a blessed holiday season

~ Paul, Alison, Joshua, and Isabella Frase

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Tue, Nov 29, 2016

The Power of Giving

Category: General  

What it Means to Give on #GivingTuesday-To Stand Up and Make an Impact! 


Join hands with the Joshua Frase Foundation as we continue to be a catalyst for a cure! You can purchase product from our Change Starts With One T-Shirt and jewelry line for 20% off of products valued at $39.99 or more. This offer extends through December 6th.

You can also make a direct donation to the foundation by clicking here.  

 

We make a living by what we get, but we make a life by what we give.
- Winston Churchill

The Joshua Frase Foundation 

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Wed, Nov 09, 2016

November Happenings

Category: General  

There has been so much going on the past few months ~ here is a recap on the happenings... 

Taylor Hicks and I chilling at the 2016 Global Genes Summit ~ Great Guy!

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Wed, Jun 08, 2016

European Adventures-Tour for a Cure!

Category: General  

In May, I had the trip a lifetime! I was given the opportunity to visit our European MTM families, and all the pieces to make this trip possible fell into place.

 

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Fri, Apr 22, 2016

The Pursuit to Cure MTM Born our of a Mother's Vision

Category: General  

 

Dear JFF Friends and Families, 

20 years and counting...

We want to share with you another milestone met by our MTM community.  

Awareness and education are key components to the success of any orphan drug program, and I'd like to share that Alison has recently been published online by the longest running gene therapy magazine, Human Gene Therapy.  The attached electronic file link . We are told that the article will be in print in the May issue of Human Gene Therapy.  

This article is for the entire community, so please enjoy the read, and know that each in our MTM/CNM community plays an integral part in the success of this journey.  

Always for the children.   

Best regards,

Paul Frase

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Thu, Apr 14, 2016

2nd Generation of The International Family Registry for Centronuclear and Myotubular Myopathies

Category: General  

The 2nd Generation of The International Family Registry for Centronuclear and Myotubular Myopathies is now LIVE!

We are excited to share a new movement in the rare disease space! The International Family Registry for Centronuclear and Myotubular Myopathies is releasing its next generation. We are now collaborating with the NIH/NCATS GRDR Program, the Global Rare Disease Registry, Alan Beggs PhD and Casie Genetti, MS, CGC Research Coordinator/Genetic Counselor for Beggs' lab. 

 
Through this new collaboration, our de-identified data will be integrated into the GRDR, allowing investigators to better query patient data and accelerate research across many rare diseases, with the goal of eventually developing novel diagnostics and therapeutics.
 
We are asking for your help! If you have previously participated in the International Family Registry for Centronuclear and Myotubular Myopathies or have not yet had the opportunity to register with us, please follow the link below to learn more about our new registry and consider taking a few moments to register yourself or your loved one with centronuclear and myotubular myopathies!

**Registry link**
 
If you have any questions, please do not hesitate to contact connect@joshuafrase.org
 
Alone we are rare, together we are strong! 

Currently the registry is in five languages, English, French, Italian, Spanish and German. Please note, the first page is in english then translates to the language of your choice. If you have a request for a different translation, please don't hesitate to make that request as we have the ability to translate into 90 languages. 

Always for the Children!
The Joshua Frase Foundation  

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Tue, Mar 22, 2016

Heartache to Hope

Category: General  

 It is with heavey hearts we release news of the passing of two angels in our community, an update from the Scoggin Family, and a book release by our friend Aminah Hart

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Wed, Jan 13, 2016

Change Starts With One.....Change Starts With YOU!

Category: General  

 

 

Greetings and Happy New Year!

As 2016 begins, Paul and I, like many of you, treat the beginning of the new year as a time of reflection.

Have we accomplished enough to achieve our mission in this past year? What are the challenges that our communities are facing, and what will it take to thrive in 2016? How can we, all of us, have more of an influence in our world? 

Part of our mission for 2016 is to launch our product line, Change Starts With One. Our goal of the product line is to not only to generate funds to sustain research initiatives, but when you wear this shirt we want you to feel empowered to be a force of change in your community! Our nonprofit line of tee shirts and accessories is inspired by each and every one of you. We are proud of our first run of items and would love to hear what conversations spark from the tag line "Change Starts With One." Email your pictures and stories to us, so we can share with others.  We'd love to feature you and your story throughout the year.  Just remember change starts with one...change starts with YOU!!


To see more styles in our shop please click here

We welcome 2016, full of extraordinary potential for us all! 

Don't forget to like us on FaceBook

The Joshua Frase Foundation 

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Fri, Jan 08, 2016

Leo the Lion

Category: General  

 

Nicole Ritchie and John Duke share a heartfelt letter after the loss of their son Leo.  

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Thu, Dec 17, 2015

Change Starts With One...Happy Holidays from The Joshusa Frase Foundation

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Category: General  

Paul reflects on his Chicago Marathon experience and the year 2015

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Fri, Oct 23, 2015

Same Name With the Same Passion

Category: General  

 

Longstanding U.S. Donor who has given generously and without hesitation since JFF inception, continues to give back.


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.

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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.

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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

 

 

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Fri, May 29, 2015

Audentes is looking for families

Category: General  

The Joshua Frase Foundation

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:
  • Child’s name
  • Age
  • City in which you live
  • Why you would like your child’s story told- one paragraph
 
 
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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Thu, Mar 12, 2015

The International Family Registry for Centronuclear and Myotubular Myopathies

Image.jpg

Category: General  

When I look at the map pictured above, I see community. I see families across the country who's lives, while different, look much like mine. I see hope for a brighter future. Most importantly, I see that I am not alone.

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Wed, Mar 27, 2013

Recensus Study

Category: General  

The Joshua Frase Foundation

Audentes Therapeutics has initiated its first study of X-Linked Myotubular Myopathy (XLMTM), entitled RECENSUS: A Medical Chart Review of Patients with XLMTM.  RECENSUS is a Latin word which means to review and investigate. The goal of this study is to collect information from medical charts in order to characterize aspects of the condition and associated medical care for males with XLMTM.
 
This is a retrospective, non-interventional study, meaning there is a review of past care. It does not require visits to a study site or any medical procedures.  
 
We hope that this study will contribute considerably to the understanding of XLMTM. If you are interested in having your or your child’s medical chart included in the study, please follow the link below for more information about the study and participating sites:  
 
https://clinicaltrials.gov/ct2/show/NCT02231697?term=audentes&rank=1

Those patients enrolled in the Begg’s registry do NOT need to do anything else. Their data is already being included in the study. Participation in this study does not influence the selection of patients for the clinical trial.

For any further questions, please contact:
 
Barbara H. Wuebbels, RN, MS
Vice President of Patient Advocacy
Audentes Therapeutics Inc.
Cell 480-437-0192
email bwuebbels@audentestx.com


*********************************************************************

For those of you new to MTM, please download The Family Guide for Myotubular Myopathy created by JFF's Educational Advisory Board. This is a fantastic guide to share with all of your child's caregivers and clinicians. 

Also, if you haven't already, please 'Like' us on Facebook - we love to stay in touch with our community via social media! 

Alison Rockett Frase | PO Box 2041 Ponte Vedra, Fl 32004 | 904-607-1358

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Wed, Oct 17, 2012

Flying the Puppies

Category: General  

The Joshua Frase Foundation
alison and nibs
 
 
 

From Mandy Lockard:

 

"Fittingly, a XLMTM (caninie) carrier named Elvira born at Halloween not only tricked us, but she has given us a great treat...
 
Elvirawas recently bred to "Rocky", our XLMTM affected dog who received gene therapy. Rocky has amazed everyone by not only surviving beyond the expected age of 18 weeks, but by surviving to over a year old, due to the gene therapy we have developed, supported by your donations...
 
From this breeding, Elvira gave us a gift of five pups: one male and four females. To our surprise, Elvira tricked us by passing on an affected X chromosome to all of the pups in the litter... Then came our treat: Against the odds...this process has created the first known XLMTM Affected Female Dogs.  These results are nothing short of miraculous. 
With the realization of these female affected dogs, we have potentially more than doubled the speed of the research." 
 
WE GET TO START SAVING LIVES DOUBLE TIME!

 

THE ASK: What we need is the donation of your American Express points that we can use to 'buy' flights for 4 members of our team to fly these dogs to Seattle.  These pups are too fragile and valuable to risk shipping in the baggage compartment, so we will personally handle these pups on the plane.  You can transfer your american express points, or if you choose to give a monetary donation through our website, just put 'dog colony' in the memo and we will apply it directly to this project.  We will be transporting these pups on March 3rd, so we need your points or donation as soon as you are able to coordinate.  
 
THANK YOU, THANK YOU, THANK YOU!!!
 

Alison Rockett Frase | PO Box 2041 Ponte Vedra, Fl 32004 | 904-607-1358

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Sat, Sep 01, 2012

First Annual Benjamin Earp Run

Category: General  

The Joshua Frase Foundation
Dear Friends and Families,
We wanted to share what one of our families is doing this coming October. The following is copied from their Facebook event page. What this couple is doing is incredible for our community! Enjoy!  - Alison Frase
 
Please join Allison and I for the inaugural "Run For Benjamin" 5k Run / 1 Mile walk in honor of Benjamin Earp on Saturday, October 13th, 2012 in Newtown Square, PA at 9 AM!

 

To sign up for the race or the walk, please go to www.runtheday.com and click "find a run" under the "runners" section. In the search box just type "Benjamin" and click search. You can then register online via the link. The race fee is $25, and all proceeds will go to the Joshua Frase Foundation ( see more info below ). Children 12... and under are free - no registration required! Please invite any friends who may be interested!

 

As many of you know, on February 13, 2012, our son Benjamin David Earp passed away on his 1 month birthday due to complications from a disease called X-Linked Myotubular Myopathy. He is dearly missed by all who knew and loved him for his short time with us. The company I work for, SAP, has graciously agreed to host this run on their campus in Newtown Square, PA. There is a 5k run and also a 1 mile walk option. The 5k course is comprised of 3 one mile loops around SAP's campus, and the 1 mile walk is one loop of the same course. For a course map click here.

 

There will be prizes for the top 2 male and female finishers and Run For Benjamin t-shirts will be available for the first 500 to register!

 

All proceeds from this run will go to the Joshua Frase Foundation. The Joshua Frase Foundation supports ongoing research to find a cure or treatment for Myotubular Myopathy, and also supports families who are affected by congenital myopathies. For more information on the Joshua Frase Foundation, please visit their website.

 

You can help support this very worthy cause in the following ways:

 

-Registering for the Run or Walk

 

-If you cannot attend, you can donate directly to the Joshua Frase Foundation. Please make sure to note the donation is a tribute to Benjamin Earp. Also, if you are an SAP Employee, please consider using the SAP Matching Program.

 

Allison and I would be so thrilled to see you there as we remember Benjamin, celebrate his life, laugh with friends, and raise funds to help other children with this disease. Thank you!!!!

 

Sincerely,

 

Brian and Allison
 
 

 

Benjamin Earp

Alison Rockett Frase | PO Box 2041 Ponte Vedra, Fl 32004 | 904-607-1358

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