MYOTUBULAR MYOPATHY & CENTRONUCLEAR MYOPATHY

From Connie Guinn: 
"The first family I ever met who were affected by MTM, was the Scoggin family (of MTMRG.org).  I met them shortly
after my son, Benjamin was born.  It was great to talk to
someone who had experience and knowledge!  They live in the
same vicinity that I do, and I am glad that Pam and Gary
were gracious enough to help point me in the right direction
with this new life. 
                             

It was much later, however, when I met for the first time
with a group of other families who were affected by
MTM.This occurred in April of 2007, when I went to Boston to attend the annual Joshua Frase Foundation's (JFF) fundraising gala.  I was amazed- it was just indescribable!!


I knew quite a few people by now through the
MTM-Yahoo Group, but I had not met any of them in
person. I had met my good friend, Shannon, through the
Yahoo Group 3 years prior, and together we both planned to go to the JFF gala that year.  (We joked about how good it
would be to finally 'meet', since she was from Oregon and I
was from Texas!)   I was so excited to meet her!  It was
awesome to put a face to the voice I had called for so many
years.

Here is a picture of me and Shannon preparing to go to the gala. 

Later that evening, we met Sarah and Pat Foye- again, it was good to put some friendly faces with the voices that we had come to know from the CNM/MTM  Teleconferences!  


That night at the gala, we also met Paul and Alison Frase-who are amazing people, and we were introduced to an awesome new family- the Grant's.  The Grant family brought their son Kyle along-he is such a charmer!  :)

Here is a picture of me, Shannon, the Foye's, and the Grant's at the JFF gala in 2007.

It is mind-boggling to meet another child who is affected by
MTM.  And it was electric to be in a room full of people who
understood where I was coming from and where I have been.

 Here is a picture of all the families that came to the Family Breakfast in Boston, in 2007.

Needless to say, this experience whet my appetite to meet
more families.  Before leaving, my friend Shannon and I
pledged to attend the JFF gala the next year (and the next,
and the next!) 


Meeting with other affected families is so crucial!  If you have not met with any other families who are affected by
MTM/CNM, then you need to plan to do so.  I promise you
will not be disappointed.  There is nothing like it in the
world." 

From Sarah Foye:  

"The first time I met another family affected by Centronuclear
Myopathy was in April of 2006 at the Joshua Frase Foundation Gala in Boston.  We had a chance to meet some affected children, parents of affected children and parents who had lost children.  Paul and Alison Frase were inspiring.


This is Pat and I with Paul & Alison Frase and Dr. Alan Beggs

As I watched the Frase Foundation informational video I was moved
to tears.  The feeling of being in the room with hundreds of people
dedicated to making a difference with this disease was thrilling.  I felt excited, hopeful and proud to be a part of the CNM family.

We also went to the Beggs lab for congenital myopathy research at
Children’s Hospital Boston.  The kindness, dedication and knowledge
that we found there inspired us for the first time to see that a
treatment for my son, Adam’s, weakness was possible.

 
This is my husband, Pat, and I at Children's Hospital Boston

We were called to action to start a campaign to make a worldwide
difference in Centronuclear Myopathy. And our campaign evolved
into the following objectives:

-Supporting research to discover a treatment and to forward
identifying genetic abnormalities for all forms of CNM.

- Educating families and health care professionals about CNM and
about what supports are available for them.

- Collaborating with other organizations to move forward genetic
diagnosis and clinical management and support for people with CNM,
including the Joshua Frase Foundation and the Muscular Dystrophy
Association and the Myotubular Myopathy Resource Group.

- Raising general awareness on Centronuclear Myopathy.

- Fund raising to reach the above objectives."