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December 26, 2008

Christmas, soul breathing and Health Care Community Discussion

If you had been at my house on Christmas, you would have seen a beautiful tree; really the best we've had. And, although we agreed not to buy gifts this year (Peter, me, and the children, all grown), we all gave each other a little something. The perfect size.

I had a revelation. Over the years I've always said that each of us has their own hardships to deal with but somewhere in the back of my mind I didn't quite believe that the heartaches of others were quite as heart-achey as mine. A son with duchenne dystrophy is, after all, an overwhelming and constant loss. And while my opinion had shifted during these past few years, I still held on to a piece of it.

That changed.

This Christmas at one gathering, almost everyone was dealing with a tragedy or tragedy in the making. One person with ALS was trying to decide whether or not to get a tracheostomy because he would soon not be able to breath on his own. One woman, younger than me, had been dealing with diabetes for years, undergone amputations, and was now living in a nursing home. Someone else was in constant pain from a back problem. Each family had its own problem. It's a good perspective on life.

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Today I was back at work.

I returned my son's 24 hour heart monitor to cardiology. While I was there I passed the chapel and decided to stop in. As the world whirled away outside the door, I sat in silence, reading a self-guided Christmas service left behind amid the Koran, the Old Testament and a Hindu text of some sort. It was soul breathing, kind of like bringing the peace of Christmas back to work with me.
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Today, Children's held a Health Care Community Discussion in response to a request from the Obama Transition Team. My contribution was about the cost of health care and coordination of services. There were other suggestions and two stick out:
  • modeling the country's health care plan on the Oregon Health Plan, which covers everyone who lives there and
  • imposing a penalty on insurance companies who deny a service that is later found to be covered.
Bottom line: it's exciting to think that I might be part of a much needed change.

December 18, 2008

The Happiest of Holidays and the Merriest of Christmases

Dear All,

As Christmas approaches and excitement fills the air, I take time to reflect how much good there is in my life.


First, my husband! My beautiful granddaughter will be here to celebrate her first Christmas. All my children will be home for the holidays. They are all healthy - especially Petey, who just saw Drs. Leshner and Spurney earlier


today. He's got a good heart (I knew that!) and his lungs pass muster.


My Christmas wish; my Christmas prayer: that exon-skipping clinical trials will begin here in the new year.

The Blessings of the Season to one and all.

December 16, 2008

Give and Take



Trevor, one of our guys with Duchenne, died December 15th. He was 16 years old and his heart and his lungs just gave out. His mom, Barb, is in my heart and prayers.

Duchenne is unrelenting.

On the give side of things, another man with Duchenne (does anyone know him? Let me know) is traveling across the continent to California to live in warmer environs. He's Mike Oliveri, 24, with muscular dystrophy, a gutsy man. Here is the link to his story, "Risking it All"

December 9, 2008

Vacation Week and Petra Kaufmann's Seminar

I'm taking the week off to catch up on my home life: read, write, visit with my granddaughter, Emma, and make Christmas cookies!

I've been doing bits and pieces of work-work that needed taking care of but also went in to Children's today to hear Petra Kaufmann, who is here this week to give a seminar and to interview for the position of Director of clinical research and MDA clinic.

By the time she finished her lecture, I was sold.

At first I was thinking - shouldn't she be talking about duchenne and how she would handle the research we're trying to put forward - ie - exon skipping and the like? But as she advanced her ideas and what she has learned in the past eight years at Columbia University, I saw the wisdom of her approach.

She spoke about what she knew - SMA and ALS and the 'how-to's' of research.

It turns out she knows a lot about research - design, outcome measures, the FDA and other things like working with small populations in rare diseases. These are the kinds of things she would have to contend with working with duchenne.

She addressed the most important ingredient of all in her research planning/calculations/deliberations - the patients and families.

Clinical research is a two-way street, she said. Work with patient groups, attend patient focused meetings, make participation in research something that can fit into our lives.

I liked her.

Tomorrow - cookies and Emma!

Answer to Jon and what's up

Jon and everybody who's still around after my hiatus ....

sorry for my incommunicado-ness. I've been under the weather - mostly not doing well emotionally - although better each day.

Petey is amazing.

He's doing his band thing - sans drummer for the time being. Petey's the singer/songwriter. His songs, 'a la rebel', are visual masterpieces. And I'm not saying that just because I'm his mother :).

I want them to record something, but Petey keeps putting it off and, without the drummer, it would be kind of tough. I do have a couple of his old numbers from before this band.

He attracts the most wonderful people.

Kristine, his girlfriend, is coming back at the beginning of January. It's their first Christmas. She's perfect for him. I mean pretty kitty and skulls. They are such a sweet couple...

His friends are awesome - especially Jason and Eric. And they're always around. Sometimes I feel like Wendy and the 'lost boys', which is just the opposite of what it used to be...

When his sisters, Nicole and Mary, were little, I was surrounded by all girls - and Petey. Even when I was the B&G Club soccer coach for their team - there were boys but at least as many girls who were just as good as the boys.

Petey, of course, was the mascot. :)

He had his own team - but in the beginning, he was too young so he tagged along with us. His team spirit came out in some peculiar ways (That thing with the other team's water cooler - he must have been put up to it by older co-conspirator...)

Life moves forward.

Next week, he has an appointment with Chris Spurney and Robert Leshner, heart and body tune-ups. Fortunately, he's been pretty much bug-free so far. I'm the one that's sick - I've got some kind of stomach bug thing and am staying as far away from him as possible.

Big Peter - had a birthday yesterday and did his usual man and dog against nature thing - on the Eastern shore. On Sunday, we had the kids over (with baby Emma) for a birthday dinner and we went to the church Christmas concert. Two groups took the cake: the girls' choir from Seton HS - brought tears to my eyes - and this hilarious group of scientists from NASA. Emma was precious. Petey didn't go - too cold so he and Jason stayed home.

As for the Cold Habor exon-skipping thing - it included AVI, us, Genzyme, Parent Project, Steve Wilton, the Aussie, and I'm not sure who else.

The consensus is to push forward, plan for clinical trials and hopefully, using a large enough dose of exons, prove proof of concept to the FDA. So far, dose has been woefully under strength to prove much of anything. Until that is addressed, what they have to show the FDA is inadequate.
 
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