Gus Turned 6 – The Balancing Act (plus a new song!)

It was a mere 5 months ago that I promised to write again soon – seems like only yesterday. But, Duchenne Muscular Dystrophy is a balancing act, and we ended up on one side of the see-saw. We spent the last few months taking care of Gus – we bought a new house – one that’s better for him (not perfect,but better). There are far fewer stairs and a flat lot.  While it seems like yesterday when I promised to write, the actual yesterday was Gus’ birthday. He turned 6 and I had to write in honor of that.

It was a great birthday! Gus came down at 5:40 and crawled in. At about 6:20, I slipped out and we gave Gus breakfast in bed. When I came home from work, Tonya left to pick up Abe and Isabel, and I asked Gus what he wanted to do. He said he’d like to, “Ride the tractor down to the pond…” (Disclaimer #1: We don’t actually have a tractor, we have a small riding mower. Disclaimer#2: We don’t have a pond, we have a vernal pool…it will be gone by June.)

ANYWAY, the moment was sweet, even if it was fleeting. We climbed onto the ‘tractor’ and drove down to the ‘pond.’ Then we mowed for a bit and Gus steered – making S-curves all over the lawn. When Gus got tired of that, he said he wanted to read a story – we went inside and snuggled under a blanket on the couch.

Tonya got home with the other two kids, and we made Gus’ chosen dinner. We moved to the ice-cream cake, Gus opened presents and loved every minute of it. It was perfect, a day full of moments that will become precious memories to be tucked away and treasured forever.

Gus turned 6 yesterday and his disease reminded me that each of those memorable moments are rare and shimmering and beautiful. At the same time, it wouldn’t let me forget that they are also far too fleeting.

That’s the balancing act. This disease, Duchenne Muscular Dystrophy DEMANDS that you be aware of EVERY moment because those moments won’t last. At the same time, it has you forever vigilant about what’s next. It won’t allow you to be satisfied unless you are doing something to change the impending future.

I wrote and recorded a song that ended up dealing with this balancing act- I started it when Tonya was being treated for breast cancer and finished it after Gus was diagnosed. Gus’ verse goes like this:

“At night I lay down next to you sometimes I can’t believe that someday all of this may change - your eyes, your smile, your innocence, the way you laugh the way you dance, I want to hold back time just to keep you safe.

I had another verse that didn’t fit into the song…“They tell me all I have is now which always makes me wonder how I’m supposed love this moment then just let it go…”

And that summarizes it. How do we love this moment fully and then just let it go? How do we give our boys with DMD a life’s worth of love in every moment? How do we somehow use that love and devotion to make us stronger when we know that it makes us more vulnerable? How do we live full lives with our boys and, at the same time, be full-time advocates for them?

In the end, I think, we shelter their dreams. We deeply believe that those dreams are far more precious than memories but we live our lives honoring both.

Enjoy the song – and finally Disclaimer #3 – WordPress won’t let me upload just an mp3 – so I made this into a video with pics of Gus and the family – I hope you enjoy the song, and I hope you find the pics of the family an appropriate backdrop…

Shelter Your Dreams

The Year for Duchenne Muscular Dystrophy – The Year for Hope for Gus – Part 1

2010 was a busy year – for  Duchenne Muscular Dystrophy Research and for Hope for Gus.

I’ll talk about DMD research first – it was a year of disappointments and some hope of progress – ‘there’s good news and bad news…’ as the saying goes.  Here are some highlights:

• In March, PTC Therapeutics and Genzyme Corporation announced that their drug Ataluren (also known as PTC-124) was not effective in Phase 2b trials:  “The primary endpoint of change in 6-minute walk distance did not reach statistical significance within the 48 week duration of the study.” This was heartbreaking and scary for a bunch of reasons:

1. First, this drug offered a lot of families hope.  It’s a long road, both in terms of time and money, to get a drug to phase 2b, and this drug seemed to be the one that was going to finish the journey.   It may yet be a tool for treatment among many others, but it is not the silver bullet that we’d hoped for.
2. Even though only about 13% of the mutations that cause DMD would be addressed with this drug, the entire DMD community was rooting for it.  It seemed to be the first real light at the end of the tunnel.
3. It’s a vague statement – people were left asking – did it help at all?
4. It was sobering and even a little surreal that a drug that had been in development for years and that experts had championed as treatment with tremendous potential could just vaporize in a press release.  The DMD community is used to the boy-who-cried-wolf-dynamic.  So many “cures” have come and gone over the years.  But this one seemed different because so many major players (including Genzyme, a major pharmaceutical)  were behind it.  In the end, it was a lesson in the complexity of this disease.  Nothing will be easy.

• In August, BioMarin announced the results of its phase 1 trial of the drug BMN-195.  BMN-195 was a drug that would up-regulate utrophin.  The drug “did not achieve plasma concentrations believed to be required to increase utrophin expression.  Moreover, plasma concentrations of BMN 195 were even lower on repeat administration…”  In response, BioMarin discontinued research into the drug.  Again, we realized we know less than we think we know, but BioMarin’s press release also offered a view of the way forward from all of this.  It said, “Given the limitations of BMN 195, we believe that other approaches to up-regulation of utrophin may be more possible, and we continue to believe that utrophin upregulation is a viable approach for the treatment of DMD.   We are currently working on additional candidates to take forward into early human studies, and the new compound we are working on appears to overcome the limitations of BMN 195.”

“We are currently working on additional candidates to take forward into early human studies, and the new compound we are working on appears to overcome the limitations…”

We have learned this year – at times it has felt like the learning was mostly through failing – but even that is learning.  So now, some good news:

• A number of trials are underway.  They include:

1. Sildenafil (also known as Viagra) – Phase II – This drug belongs to a class of drugs called phosphodiesterase 5 (PDE5) inhibitors. They relax the smooth muscles that line blood vessels, hopefully improving blood flow to skeletal muscles and the heart.  Researchers have identified “an apparent strong therapeutic effect” of sildenafil on heart function in mice with a DMD-like disease.
2. ACE 031 – Phase II – This is a protein that is hoped to build muscle and increase the strength of skeletal muscles.
3. Epigallocatechin-Gallate (also known as EGCG  – it’s the major polyphenol in green tea) – Phase II – This trial is based on EGCG’s neuroprotective effect and it’s effect as an anti-oxidant.
4. GSK2402968/PRO051 – Phase II – This is a compound that would induce exon 51 skipping, allowing for a partial dystrophin protein to be produced.
5. PRO044 – Phase I-IIa  - This is a compound that would induce exon 44 skipping, allowing for a partial dystrophin protein to be produced.
6. AVI-4658 – Planning Phase II – This is a compound that would induce exon 51 skipping, allowing for a partial dystrophin protein to be produced.
7. Idebenone – Phase III – Through it’s anti-oxidant effect, this drug is hoped primarily to improve or delay the loss of respiratory function in patients.  Additionally, researchers are interested in its impact on  pulmonary function, motor function and muscle strength.

All of this is evidence of the pharmaceutical industry beginning to pay attention to Duchenne Muscualr Dystrophy.    In September, Dr. Brian Tseng was hired by Novartis specifically to develop drugs for neuro-muscular disorders.

The year ended with some interesting research from Stanford.  In that study, researchers asked why the Muscular Dystrophy Mice that are used for early testing of potential treatments often do far better than humans with DMD.  As a result, many ‘promising’ treatments over the years have not fulfilled their promise in people.

Researchers determined that the difference is due to the fact that mice have longer telomeres in their muscle stem cells.  As a result, they have a greater capacity for muscle cell regeneration after their cells have been destroyed due to a lack of dystrophin.    There are two important implications from this research.  First, there is a new mouse model that may more accurately reflect human DMD (it’s known as the Blau Mouse after Dr. Helen Blau, lead researcher).  These are mice that lack both dystrophin and the enzyme, telemorase. Their phenotype of DMD is similar to human DMD.

There is a second, and more profound implication.   The real cause of degeneration in DMD patients is that their bodies are exhausting their supply of stem cells prematurely.  Any treatment regimen must ultimately address this in order to be effective.  While other treatments will ameliorate the symptoms of DMD and may even slow the loss of stem cells in DMD boys, until we are able to restore their stem cell supply, our boy’s will ultimately experience muscle degeneration.  This research seemed to fit right in with much of the year’s research.  In pointing out where we have failed in the past, researchers may have moved us closer to a cure.

As the year turns to 2011, it has the feel of a huge chess board being set up for the game.  We are finally getting the pieces in place, and, while we’re not there yet, soon we’ll be ready to play.  When we eventually do start the game, we’ll win, we know that.  It is excrutiating for families and kids with DMD to wait as we set up the board, but 2010 moved us a lot closer to checkmate.

Levi Miller – 19 Years Old

A couple of weeks ago, my friend’s nephew died. He was one month into his 19th year.

Duchenne Muscular Dystrophy killed him.

I didn’t know Levi. I wish I had. The program from his funeral tells me that he “was a computer gamer, a Hawkeye football fan, sci-fi fanatic, US military and history junky and food network junky…:

He was 19 years old, a boy who wasn’t granted the time to become a man.

And yet…

He dealt with more than you or I have in our lifetimes – he faced his own mortality.

Everything we do to raise money and find a cure is about two things:  It’s about honoring boys like Levi who fought DMD each day of their lives, and it’s about my son and boy’s like him who are just beginning the fight.

I want to believe that, after 150 years, Levi is of the last generation of boys who will have to suffer and die from this disease.

Levi, God be with you – I hope that, wherever you are, you’re feeling your strong legs under you – you’re running fast, jumping far, and your wheelchair is just a distant memory.

Duchenne Muscular Dystrophy and the Economics of My Son’s Life

It’s been almost a year since Gus was diagnosed with DMD. On the drive into work this morning, I was thinking about what I’ve learned about DMD since that November evening in 2009 when the doctor from Dartmouth called.

It comes down to four things:

1. Duchenne Muscular Dystrophy is devastating. In the 149 years since the identification of DMD, that has not changed. We see it again and again in the numerous letters and cards we’ve received from people who have lost a loved one. Here’s a quote from the most recent card: “Our son was born in 1983, we spent much of our lives devoted to giving him all the opportunities we could afford…he did everything he could with what he had, and he died in September, 2007…”
2. Managed care offers a twinkling of hope. By having a neuro-muscular specialist, a cardiologist, a physical therapist, and an occupational therapist working together, boys with DMD have a chance at a slightly better and slightly longer life. It spite of mounting evidence to that effect, however, there are just two clinics in the US that offer such care. One is in Boston, at Mass General, and one is in Cincinnati, at the Cincinnati Children’s hospital. A third clinic is planned at UCLA.
3. Research is advancing, but DMD often advances faster. Gene and Stem-Cell therapies offer real hope for a cure, but in the year since Gus’ diagnosis, we’ve already seen great hope dashed with PTC-124. We pray that we haven’t entered Bill Murray’s Goundhog Day of DMD news, hearing about potential treatments and cures that never go anywhere again and again.
4. This is a rare disease. About 38,000 kids were born worldwide with it last year. That means, that since Gus was born, 190,000 families have heard or will hear the same devastating news that we received last November. Seems big, but it’s not enough – if you restrict that number to births in the U.S., it’s MUCH smaller – just 1182 children each year. That’s the number that keeps us up at night. With so few patients in the world who can pay for treatments, will it ever make economic sense for big pharma to treat DMD?

That’s where John Crowley, comes in. In 2003, Crowley, whose kids had Pompe disease (an even more rare genetic disorder than DMD – about 1/400,000 births – or 10 cases each year in the US ) created a treatment at Genzyme. He also created an economic model that makes sense to big pharma. The answer to the economics question? Charge A LOT – about $200,000 annually per patient to treat Pompe.

I’m no mathematician, but, based on those numbers, I think we’re looking at about $20,000/year to treat Gus when a treatment comes along. When that time comes, we’ll happily pay $20,000. At the same time, we can’t fund a drug through trial.. How much does it cost to get a drug through all three phases of an FDA trial? I’ve posed that question to doctors and execs over the months, and the consensus seems to be about $20,000,000. Only Bill Gates or drug companies have $20 mil to spend on trials (are you listening Bill Gates?).

So what’s our role?

We fund the research and the treatments. We find the doctors who are figuring out ways to improve kids lives and fund them. We find researchers who have research that’s so promising that big pharma can’t ignore it and fund them. We stay up later and get up earlier in order to make the single dollar that will break through it all.

In the end, we ignore the economics and we believe that this is the generation of boys who, with our help, will beat DMD. There are 38,000 kids each year who are counting on us. We can’t let them down.

Cousin Jake

I wanted to share a poem written by Jake, Gus’ oldest cousin. Jake is in 8th grade, and he has shown us his maturity, compassion and love for his cousin by organizing a fundraiser last year at his school that netted $600 (for that, he made it onto our Heros page here).

Recently, Jake approached me with a poem/rap that he wrote in honor of Gus. We hope to get him into a recording studio to record it soon. Gus has a special connection with Jake as well, and this poem shows why:

Hey, hey hey my cousin,
One day I heard,
You have a bit of a problem,
Like something with your muscles isn’t working quite right,
But let me the first to say,
There’s nothing wrong with you in plain sight,
And I know you’re strong,
And I know you’re brave,
And nothing in this world,
Can make your smile go away,
Because you’re as powerful,
As the sun is bright,
And you won’t go down,
Without putting up a tough fight,
We give you hope,
And give you support,
And you have a spot,
In all of our hearts,
We love you as much,
As the sky is blue,
And even on a cloudy day,
We can see the perfection in you.

Most kids wear braces,
On their teeth,
But you wear braces,
On your legs, ankles and feet,
And you take medicine,
To help you along,
But that’s not what really,
Make’s you strong,
No, it can never compare,
To the care that we give,
And can never measure up,
To your will to live!

The thoughts that run,
Through your mind all day,
Must only be,
Live laugh love and play,
And when I see,
Your face light up,
It shows that you too,
Know we have Hope For Gus,
Yes, we have hope,
Hope for you,
For every amazing thing,
You have done and will do,
Yes our hope is more powerful,
Than any disease,
And what I’m saying here,
Isn’t just coming from me,
It’s coming from everyone who’s been affected,
By DMD,
And we all have Hope For Gus, little buddy!!

“A lot of hope…”

On August 7, 2010 we had our most successful fundraiser yet at the Alexandria, MN Country Club. Tonya’s dear friends from high school had spent six months oraganizing a cocktail hour and silent auction. On that night, all the pieces were in place.

We had the support and generosity of a wonderful community. People donated golf weekends, plasma TV’s, tickets to the Minnesota Vikings, Twins and Gophers, wine valued at $350, original artwork, antiques and much, much more (we had over 100 donations).

We had a great band. Doc Engebretsen and his All-Stars provided jazz all night.

We had a friendly venue. The waitresses stayed until past midnight and the food was fabulous.

We had a ten minute presentation. Tonya talked about how, even after a diagnosis of breast cancer, there were things we could do to give us hope, while the DMD diagnosis left us searching in vain for anything to do. Steve talked about the researchers we’ve already supported and the others who we hope to support in the future. Both of us assured people that our foundation name, Hope for Gus, is about very real hope based on very real medical progress. Isabel thanked everyone for coming and read a poem she had written entitled “Him:”

Him

Gus is still a boy
a kid
a person

He’s still got hopes
got dreams
got love

He’s still a someone
definitely
He’s definitely
still
a someone.

- Isabel, 9 years old

We had a brief video which you can see here.

In the end, people responded – opening their hearts and their wallets and we more than doubled our expectations. People paid twice their bid for auction items, our donation box was full and lots of people left with Hope for Gus t-shirts. We raised $17,000 that night – every penny of it will go to research.

We’ve begun to understand how to create a successful fundraiser, and how to use that money to fund great research. In the end, we came away understanding that people really want to help eradicate this awful disease and to change the future for thousands of boys.

I e-mailed a friend the great news of the success of the fundraiser, and she said it perfectly when she responded, “that’s a lot of hope…” She was right – it is.

$11,000 to spend…

In the few months since we began The Hope for Gus Foundation, due primarily to the generosity of our friends, family and community, we raised $11,000….We knew full well that every dollar mattered, first for our son, but also for our foundation. This was our first big disbursement, so we wanted to do it right.

As the six of you who read this blog know, we have had some experience with the medical community through cancer in the past few years. Unfortunately, that experience left a few things to be desired in terms of bedside manner and the development of new therapies.

I’ll never forget sitting in the oncologist’s office as he described the treatment my wife would go through after being diagnosed with breast cancer…it would be chemo, radiation and a whole bunch of prayin’. My dad died of cancer in 1971…guess what his treatment was? I’ll give you a clue – a whole bunch of prayin’ was involved. That’s right, it was chemo and radiation. I asked the oncologist at the time what had changed after all the thousands of miles for a cure were walked and all the t-shirts and little pink ribbon pins were sold. He told me they’d gotten better at diagnosis – well thank you SOOOO much – now we know a little sooner that we have life-threatening diseases!

The weird thing is that the whole cancer medical community acted as if they were placed on this earth by God himself to save us all. Everyone from the first oncologist Tonya met, to the social worker (who informed me that I needed to be more “in the moment” while my wife was in surgery for her mastectomies), was astoundingly pompous. It was very clear that we were the victims and they were our saviors. I’ll stop here because this is bound to end with me swearing, and I want this to be a family blog. Suffice to say, I was worried as Tonya finished her cancer treatment and we turned around to approach the DMD community for Gus that we would be facing much of the same. I knew this time around, with my patience a little slimmed down, that I wouldn’t be as docile as I was the first time…but, guess what??? I WAS WRONG!

We found another side of the medical community – one that is a bit humbled by the fact that this disease was identified 149 years ago (1861, when Sigmund Freud was 5…just to give you a mile post) and the prognosis hasn’t changed significantly. Suddenly, the docs seemed to be in it with us…like we were all victims of this disease. And suddenly,we, and Gus, weren’t alone.

With every boy who is diagnosed, we all know that the window of opportunity is small. You’re lucky if you get 10 years from diagnosis to wheelchair. Just ten years – and it’s relentless and predictable – 100% fatal. One doctor told me that it was one of the most predictable diseases we know.

BUT, doctors and researchers are saying that we are within ten years of having a cure. Unlike the cancer people, who seem to be wallowing in the money, but not doing a heck of a lot, there is ACTIVE research in both treatments and a cure for DMD but not a lot of spare change. And there, my friends, is the rub. In 10 years there may be a cure BUT in 10 years, if no effective treatments come on line, another generation of boys will be non-ambulatory and in wheelchairs. Every day and every dollar counts.

As a foundation, we decided that both lines of research, research for a cure and research for better treatment were equally important. Practically speaking, that means we will literally divide each disbursement in half – half to research for a cure, half to research for treatments.

I was told by one clinician that one phase of a trial typically costs about $2,000,000. As we contemplated where we should send our $11,000, I expected that such a paltry amount of cash might not create ripples. And yet, I contacted one pharmaceutical firm in Boston and the chief scientific officer sent me his cell number and asked me to call him. I e-mailed one of the top researchers in the US and he responded in a day saying he was at a conference, but could we talk in a couple of days? Gus’ doctor, Brian Tseng, also a prominent researcher, sat with us for 45 minutes to discuss how we might proceed. I know what you’re thinking: All of these folks were on the make – $11,000 is money, and they need it. That’s the most delightful thing of all. Everyone of them explained what they were doing, talked about other research and encouraged us to think hard about where we would send the money.

In the end, we sent half of our money to Dr. Jeff Chmerlain, a researcher who wants to go to trial with a gene-therapy cure. Here’s a link to Dr. Chamberlain’s research. We sent the other half to Dr. Brian Tseng, whose research centers on effective treatments. Here’s a link to Dr. Tseng’s research.

As we continue to discuss and form partnerships with researchers, we know that we’re all on the same team. Our goal is to raise $40,000 more this year – $50,000 in our first year. We will give 100% of that away. Due to the fact that we are a 501(c)3 public charity, every dollar given to us is tax-deductible. Thanks for being on the team with us. Know that every dollar and every day really matters – I’m reminded of that each morning when Gus looks at me with his big blue eyes and I know they deserve to see a bright future!

The Kindness of Strangers

Our first big fundraiser was put on by our dear friends Steve and Marcey in Greenwich Village, NYC. We were at Sullivan Hall and a band called Hot Lava was kind enough to donate a performance…then they were even kinder by letting me (Steve) go on stage with them to play harmonica on “The Weight.” While I was up there, I took the opportunity to explain what Duchenne Muscular Dystrophy is and to thank people.

After the song, a friend was leaving so I stepped out onto the street to say goodbye. About a minute after I came back in, I felt a very large hand on my shoulder. I turned around and looked up, and up again at a man who may have been twice my size…the bouncer. My first thought: “Oh man, I didn’t get my hand stamped and now this guy is going to throw me out on my ear…”
He smiled, “You were just on stage, right?”
“Yeah, that was me…”
“So it’s your son who is sick?”
“He was just diagnosed…”
“I just want to tell you how much respect I have for you and how much I hope you guys are successful in finding a cure. I don’t know what I’d do if I was in your shoes…”

For some reason, that little spark of kindness moved me as much as anything else that evening. Maybe it was because it was entirely unexpected.

We have had a few such moments of kindness – all very brief and all very wonderful. We have a heroes page on our website (www.hopeforgus.com). Those are people like Steve and Marcey or Hot Lava – they are heroes because they went far out of their way to help us raise money to help our son and thousands like him who have DMD. But these little flashes of kindness are just that…glimmers of light that briefly brighten our lives.

Soon after our first press release, a letter arrived in the mail. It was written by a woman who had two brothers who died from DMD, “I just read the article about your beautiful son, Gus,” she wrote, “I am unsure what makes me write other than to encourage you in your endeavor…My brothers were a gift to this world…”

A little later, we received another letter from the mother of a former student of mine, “I wish you and Tonya well,” she wrote, “I wish for Gus good health and a bright future…please know that your efforts will be appreciated by countless others…”

Then there are the donations…everything from $25 to $250. Some are from people we know, and some are from people we don’t know at all. All are aimed at supporting Gus as we try to push forward for a cure.

As Tonya and I continue to try to accept the fact that we have a child who has been diagnosed with a terminal illness, the biggest challenge is not despairing at what the future might bring. Gus is an ebullient, beautiful child today. Those flashes of kindness that we’ve been blessed with since his diagnosis are small reminders that each day we are panning the river. If we look hard enough, we’ll usually find gold.

Hope for Gus up and running…

Hello,

Welcome to the Hope for Gus Foundation’s blog.  Our son, Gus has Duchenne Muscular Dystrophy – we have been blogging on Caring Bridge, but wanted to broaden our audience, so these first couple of posts may have a ‘middle of the stream’ feel…

Here we go:

Things have been busy…Gus was fitted for his night splints, which he wears to bed every night like a trooper.  I think he complained ONCE and now it’s just routine.  They keep his heel cord stretched, which helps a lot with mobility.  He has also started aquatic therapy and he loves it.  Water is great for him because he feels weightless – which probably feels wonderful after straining himself to get around all day.

A few weeks ago we were visiting Steve’s mom up in Vermont.  Gus woke up one morning and said to Steve, “Daddy, I had a dream last night.  I dreamed that my legs didn’t work.”  After asking him to repeat himself a few times, Steve brought him to me and had him tell me about his dream.  We were stunned and wondering if it was just a fluke, or if he really has some idea about the progression of his disease.  As fas as he we know, he only realizes that he wears braces and takes medicine to “keep his muscles strong.”  He didn’t seem upset by the dream…just very matter of fact about it, but it was just very strange.

Anyway, we are making a lot of progress with the foundation, including choosing a name.  A very special thanks goes out to fellow Francestownian Janet Hazel for suggesting “Hope for Gus.” We love it because we truly believe that if we don’t have hope, we have nothing.  So, the Hope for Gus Foundation is soon to be up and running.  We have a board of directors, are filing the paperwork, and have our website up.  Check it out at www.hopeforgus.com You can find out more about DMD, learn how to organize a fundraiser, or donate online.  We’re very excited about this – it’s a wonderful way to feel like we’re actually doing something to help Gus and other boys like him.  100% of the proceeds will go to research to help treat and/or cure DMD.