Tuesday, March 29, 2011

What's So Funny 'Bout Peace, Love and Understanding?

As I walk through 

This wicked world 

Searchin' for light in the darkness of insanity.
I ask myself

Is all hope lost? 

Is there only pain and hatred, and misery?

And each time I feel like this inside

There's one thing I wanna know
What's so funny 'bout peace, love and understanding?
What's so funny 'bout peace, love and understanding?

I believe in the power of the written word.  At best words can increase understanding, offer enlightenment, and in some cases even bring healing.  An increased understanding of Pompe Disease was my hope when Dr. Lisa Sanders first contacted us.  I did not expect to also experience peace in my heart and love from strangers, but as usual Pompe always throws us a twist. 

A few months ago, Donna received a call from Dr. Rand at CHOP asking if we would be willing to share Maddie's story.  She explained that there was this interesting writer for the New York Times who pens a column about medical mysteries and is also the technical advisor for the TV show House.  Dr. Rand said she never misses her columns and thought for sure that Maddie’s story would be perfect.  After speaking with a few friends and investigating Dr. Sanders' work, we responded with a resounding yes.  The New York Times?  What a great opportunity to spread the word about Pompe!   

Dr. Rand sent off a note and a few days later Dr. Sanders contacted us. She explained that for many years she has written an article for the NYT Magazine where she defined a condition, outlined the diagnosis process and defined the disease.  To mix things up, she planned to start a new online contest where the readers would have the opportunity to solve a medical puzzle with limited clues, just like on the show House.  Whoever made the correct diagnosis would receive a signed copy of her book and more importantly the satisfaction of cracking the case.  She loved the idea of starting off this new endeavor with Maddie's case, as the process from hair loss to Pompe was truly unique.  Following the blog, Maddie's full story would be written up in the NYT Sunday Magazine.  

After signature of a few privacy forms, we were on our way.  Dr. Sanders reached out to our local pediatrician, the liver specialist and muscular neurologist at CHOP, and little old us.  Each was invited to tell their part of the diagnosis process from the day we walked into All Star Pediatrics until today.  Over a few weeks, the writer called the medical team, received medical reports, test results and completed her own research into Pompe.  Eventually, she took the train from NYC to our door with pen in hand ready to meet Maddie and Emma.  We spent two hours carefully reviewing our version of the story, our emotional journey, our laughs, our family’s strength, and our hopes for the future.  From our initial discussion until the end we could see that she truly cared about patients and approached her work in a careful and peaceful way.  We were left feeling like we had shared the afternoon with a good friend. 

The story hit the New York Times blog on March 23rd and took off faster than any of us expected. Here was the first post. 

Think Like a Doctor (The Contest)

In a matter of hours, the contest had gathered nearly 1400 responses from around the world.  There were established doctors, med students, and plenty of regular Joes (and Janes) asking questions and posting solutions as they raced against the clock to find the diagnosis.  The initial answers seemed quite serious. Some said she had dermatomyositis, another said juvenile polymyositis, one person guessed hereditary hemochromatosis, and many said sarcoidosis.  Don’t ask me what any of these are, but they all sound like good guesses.  And then came the funny ones.  These solutions stated the trouble was excessive violin practice, that she offended witches, that she was the victim of a mysterious poisoning plot, and that she was an alien preparing to morph in 2012.  That was my favorite.
By noon the next day, Dr. Sanders posted the answer and congratulated the winners.

Think Like a Doctor (The Winner)

While some responded with appreciation for the answer, others came with a bit stronger response.  I termed these “the haters”.  The first was “Is her mom a helicopter parent who has simply worn down her child into a joyless nub?”  Then came complaints about an obsessive mother spending her medical insurance to research a hair loss emergency while poor kids in Philly stacked up at clinics.  Others wondered how attentive parents could miss noticing a daughter who couldn’t do sit-ups or one who could not lift a milk carton.  The prize went to someone who, upon learning the cost of Lumizyme treatments, asked “which life is worth $300,000 per year?”  Charming.

While I was a bit ticked off by these comments at first, I quickly shrugged them off after reading post after post from people who we had never met expressing their concern, wishing us the best, and passing on their love for a little girl who’s hair loss lead her and her sister down the road to Pompe.  Like so many times before, we were overcome by two simple things that made the whole process worthwhile, support and love.   
So I want to send a big thanks to Dr. Rand for suggesting this to us and to Dr. Sanders for writing a great piece which riveted so many and brought worldwide visibility and understanding.  We fully enjoyed the process and can’t wait for the magazine article on April 10th.

So you tell me…
What's so funny 'bout peace, love and understanding?

Credit to: Elvis Costello, "(What's So Funny 'Bout) Peace, Love And Understanding" 

Saturday, March 12, 2011

Act Naturally

They're gonna put me in the movies

They're gonna make a big star out of me
And all I gotta do is act naturally

I'm going to warn you right at the start that this post is not about Pompe. It's also not about neuromuscular disease, the folks at Genzyme, CHOP, or the MDA. It's the story of a proud dad and sometimes Grinch who's heart grew five times in one day watching Maddie Jane and her acting debut in Bye Bye Birdie.

Each year our middle school puts on a musical.  A few months ago Maddie decided she wanted to try out and hopefully get a role.  After several viewings of the movie, studying lines, and practicing songs, she was ready for her big chance. That morning she walked into school a bit nervous hoping that she would do the right thing and hopefully see her name on the call back list a few days later.  

Try-outs went well and a few days later she jumped into the car with a big smile on her face.  "I got call backs!", she said.  A few days later she was informed she got the part of Alice, the Mayor's daughter and one of the Telephone Hour girls. She was beaming!  My heart began to grow.  

For the past several weeks she and all the other great kids in the play have gladly committed their afternoons and weekends.  Hours upon hours they worked through the lines, the songs, the stage sets, etc., etc., all with one eye on Opening Night.  Early on she would share a lot about the play, what her role was and what songs she had to sing, but over time she became quiet.  When we asked if she got to sing a few songs and be on the stage a couple times, she would just smile and say, "It's a surprise."   

There has been a build up all this week with dress rehearsals, teasers to the students, and finally Opening Night.  As Maddie scurried around the house last night, followed by Mom preparing her curly hair and make-up, you could feel the excitement.  After weeks of hard work, the play weekend was here.  Now was the time to shine and now was the time to finally show her parents the "surprise".

When we arrived, the school was all Bye Bye Birdie.  From posters, to pins, to star grams and flowers they were ready.  When the curtain rose and the play got underway there was Maddie (sorry, Alice) with curly hair, huge smile, and telephone in hand and bolting out the words to "Telephone Hour".  She looked and sounded great and all I could do was smile.  As the play went on, we discovered that Maddie (sorry, Alice) was  showing up here and there throughout the play with the same smile and big voice.  

So why did I choose the song "Act Naturally"?  Well, if you know Maddie you know that despite all the struggles she faces she has the ability to keep a calm, positive attitude.  Sure I am incredibly biased, but here's a girl who every two weeks gives up a day to sit at CHOP for IV therapy and never complains.  Here's a girl who has been forced to accept a strict diet and exercise regimen while her friends eat and do what they want and again, she never complains.  Here's a girl who has to deal with many issues we don't spend the time detailing on this blog, but does so with grace, a smile and a sense of humor.  So when she came on stage last night, I knew that smile was not a show. It was Maddie, happy to act, happy to sing, and happy to be alive.  

Well, I warned you.  No scientific updates or tearful stories of kids overcoming adversary today.  It's just a proud dad bragging about his daughter.  If you're in the local area and looking for some good wholesome fun tonight or tomorrow, be sure to check out Bye Bye Birdie at LMS.  If you're looking for me, I'll be the guy sitting in the front row with a big smile, fresh flowers, and a huge heart filled with joy for a little girl with curly hair singing...

Well I hope you'll come and see me in the movies

Then I'll know that you will plainly see

The biggest kid that ever hit the big time

And all I gotta do is act naturally

Way to go Maddie Jane!

Credit to: The Beatles, "Act Naturally"

PS: The last line in her bio says... Maddie believes, "Anything is possible, so live life to the fullest!"  Amen, little girl.  Amen!  

Telephone Hour

Dancing with Conrad Birdie