Men over 40 with duchenne

Now you can join the likes of Mark Twain and say: "The report of my death is an exaggeration." There are over 400 men with duchenne muscular dystrophy over 40. Who are you?

What do you have to say for yourselves? Where are you 'oh miracles of the living'?

I'm thinking about writing a piece on you, your lives and philosophy but first I have to find you. To that end please take the survey below - send this link to your friends, your friend's friends, and anyone who might be able to answer the call!

If you know of someone who doesn't have a computer and would like to participate, please feel free to send me their contact information.

Click Here to take survey

A Poem for Uncle Petey

Below is a poem that Petey wrote about his uncle, who died Saturday after battling ALS. Even though there are allusions to family connections - karate kid, movies, Stephen Segal - it's easy to follow. One more note - Uncle Petey was the president of the regional CWA for twenty years or so - hence the 'union' references.

Uncle Petey

I remember that grin
Even when the disease loomed
I knew how it must have grown heavy
But his strength was there
I could see it

I regret not seeing enough of a union man
That a President recognized
And a family grew with
Who dressed up like Dumbledor
And quoted Steven Segal
That danced at a daughters wedding
And honored his beliefs

He is a passed titan
Who is still alive through warm hearts that mourn
That celebrate a man still immortal
Telling stories to us in our minds campfire

Petey was the true American dream man
Hit by something deadly
But never stopped swinging

I'm not a religious man
But I know he would say a prayer now
He would be strong with his big heart
And he still is as we know

So Uncle Petey, I know you're listening
And your still grinning in your Dumbledor hat
Saying "Sweep the leg Johnny"
And watching all the best action movies
Starting a union in the afterlife

No strangers in Bangalore: Muscular Dystrophy Conference

Deb Robbins, Parent Project Australia, reports on the first Asian PP Conference in Bangalore, India. I love her down-to-earth, funny, and wise-beyond way of looking at things.

Over 500 delegates attended the First Asian DMD Conference organized by United Parent Projects Muscular Dystrophy, Health Care Global Foundation and NIMHANS at St John’s Auditorium in Bangalore. Parents also came from Iran, Israel, Sri Lanka, Italy, The Netherlands and France. Stakeholders around the world were able to view the lectures via live streaming organized by Duchenne Parent Project Italy. International spectators were able to send chat questions to be answered by the panels along with those from the conference floor.

This was no local seminar but a national conference boasting an international program. Prof Jean-Claude Kaplan, Dr Annemieke Aartsma, Dr Madhuri Hegde, Debby Schrans for Dr Hendriksen, Dr Raghavendra Rao, Dr Lakshmi Raman and Dr Herve Laouenan explained their research. Dr Rao’s reasons for the suspected value of yoga for Duchenne were particularly innovative. Clinicians included Dr Nathalie Goemans from Belgium, Dr Jes Rahbek from Denmark, Dr John Bach, Dr Karim Wahbi and Prof Douglas Biggar. Though only one therapist presented, 160 practitioners attended Helen Posselt’s workshop.

Everywhere was evidence of dedication –the geneticists in Dr Lakshmi’s lab giving up their leisure time for family fun days and disseminating information to doctors surgeries on weekends. And no problem was any trouble for Dr Rao, the local organizer, to solve.

Particularly inspiring were the calls to rally together to abate the progression of Duchenne for one and for all, by Dr Ajaikumar (HCG), Dr Elizabeth Vroom (Conference Convenor & UPPMD President) and Hafiz Issadeen from Sri Lanka. All presenters urged parents everywhere to be proactive in both care and advocacy. With better care and promising research around the corner, it is more important than ever to plan for longer and more comfortable lives for our children than we could have imagined 15 years ago. The Parent Project Muscular Dystrophy group of India was inaugurated at the end of the two day conference and these core parent advocates networked with presenters and UPPMD stakeholders on the last evening.
In Bangalore as at home, I enjoyed swapping practical care tips and the trials and blessings of life with DMD, with other parents. More than one parent asked me to read specific medical information about their child confusing me for one of the doctors. They were desperate for more information though we’d just sat through hours of presentations. Yet the children and youths running, waddling or wheeling around the auditorium were as serene and ‘wise-eyed’ as Australian, European and American boys confirming my own theories about just who is saving who?

TRAKE STORY

My son, Pete, is 26 years old and now has his own blog (like mom like son!). He gave me permission to reprint one of his posts. It is about his take on getting a trach or trake. See his post below and then click on the title above and it is linked to an Aug 07 post of mine that I wrote about what I was going through at the time ...
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Ok, I'm going to spell trake wrong in this blog because the correct spelling does not look right. So if no one has any questions, we can continue.

Before my trake surgery a couple years back, I had the craziest question growing like a tumor on my brain -- will I still be able to sing after this?

Lets take a detour from the story for a moment for some backstory. I started writing and occasionally performing hip-hop lyrics at the age of seventeen. Part way through my sophomore year at St. Andrew's in Laurinburg North Carolina, my lungs were getting weak, too weak. This meant, after a pneumonia and a hospital stay that my out-of-State college career was over.

During this life-transition I made one of another kind. A transition from rap to rock. The band and I both noticed, the Summer leading up to the surgery, that it was getting harder and harder for me to belt out lyrics. Naturally horrified, I thought, with a trake that'll really be it! My singing days were surely numbered.

Or were they?

The recovery after the surgery was hell, taking all of three months of going in and out of the E.R., getting MERSA and a hole in the lining of each lung. I was told two weeks, ha, what a joke! I couldn't talk at first and having a cuffed trake didn't help either. Without explaining it in detail -- cuffed equals no sing, un-cuffed equals sing.

After re-learning how to talk and getting a cuffless trake, I must say that singing has become much easier. So after all the pain and hospital stays, I'd say getting a trake was the best decision I ever made! It saved my life and my voice.

Toshifumi Yokota and exon-skipping in the dystrophic dog

Toshifumi Yokota, a young man with a winsome smile and a bright future, is changing the face of translational research in duchenne dystrophy. Working with the dystrophic dog, he is our morpholino, exon-skipping expert. Toshi, as we call him, is the first author on the recently released Annals of Neurology article that is causing a sensation in the duchenne advocate and science world. This article shows the first multi-exon skip and the first large animal proof of concept (see March 15th blog and CNMC press release for details. See also videos of dogs with and without treatment)

Trekking back and forth between Kodaira, Japan, where his animal research is based and Washington DC, where he does bench work and analyzes data, Toshi is part of the team responsible for making sense of what the morpholino research is telling us. Working at Children’s National here in Washington DC, Toshi has access to the one of the leading scientists in duchenne research today. He is mentored by Eric Hoffman, a member of the original Harvard team that discovered the dystrophin, the mutant gene causing duchenne dystrophy.

Toshi ‘s work is crucial to the future of duchenne dystrophy clinical trials and development of a first treatment for our boys. Among the questions he and the research teams will be answering are:

• What are the optimum number of exons to be skipped at one time?
• The large dose of morpholinos given to the dogs is nontoxic. Can we be assured there will not be a toxic response is the clinical trials?
• How about with petide conjugated or vivo-morpholinos?
• What is the minimum dose necessary to have a therapeutic effect?

Toshi’s mother and father came from Northern Japan and they moved to Tokyo where Toshi grew up. He went to Tokyo University and majored in Zoology. In graduate school, he studied under the mentorship of Dr. Shin’ichi Takeda, MD, PhD. Toshi was eager to work with Dr. Takeda because of his stellar reputation and because his lab was known for its leading edge research work and state of the art equipment.

Toshi met his wife-to-be, Rica, at University over a decade ago. Married last year on Guam, the newlyweds live in Odenton, Maryland.