Thursday, December 30, 2010


I watch the ripples change their size
But never leave the stream
Of warm impermanence and
So the days float through my eyes
But still the days seem the same
And these children that you spit on
As they try to change their worlds
Are immune to your consultations
They're quite aware of what they're going through

Turn and face the strain
Don't tell them to grow up and out of it
Turn and face the strain
Where's your shame
You've left us up to our necks in it
Time may change me
But you can't trace time

My Dad had a way of saying a lot with just a few words. When I would complain about the smallest change he would tell me, "It builds character." Once I became a teenager and figured it all out, my standard response became, "I think I have enough." Thankfully he repeated himself year after year. When I did not get accepted to my college of choice, the response was, "It builds character." When Donna and I were married and discovered that making almost no money meant we had to live in a crummy apartment, he repeated, "It builds character." When I struggled with my career, expecting the moon and the stars on day one, he told me, "It builds character." Over time, the saying became lodged into my brain to a point where I would tell myself, "my Dad always used to say..."

As I look back I have to laugh at some of the changes I used to be concerned with and those I celebrated. Sure, they may have been important at the time, but in the grand scheme of things they were insignificant. It wasn't until our first meeting with the CHOP team that I realized what the impact of change could really be. For the first time, I walked into a hospital as a parent and heard things parents never want to hear and saw things parents never want to see. Maddie's simple hair loss became Inclusion Body Myopathy leading to progressive muscle weakness and potentially life in a wheel chair. From that vantage point, changes took on a new meaning and even the smallest improvement was reason for celebration.

On December 10th, Donna and I joined the girls for their six month checkups at CHOP. During the four hour appointment the doctor, physical therapist, dietician, genetic counselor, occupational therapist, a few interns, and a representative from the MDA popped in and out to get updates on the girls. As usual, the girls were asked to perform a series of tests designed to measure changes. For example, our muscular neurologist tested their strength, completed muscle ultrasounds, and timed them as they ran sprints through the halls. The occupational therapist tested their fine motor skills, focusing on their daily tasks at school such as writing and typing; at home such as opening jars; and for Emma on the road as she is a few short weeks away from getting her driver's permit. I believe Emma had input on their report as the therapist explained how important it was that she receive an iPhone for Christmas. Hmmm. Finally, the physical therapist completed detailed strength tests focusing on a number of points including neck flexors, elbow flexors and hip flexors to compare the results vs. previous visits and standards for girls their age. Overall, the results showed improvement or stabilization depending on the test and their improvements from last summer.

Following our appointment, I had the good fortune to spend a few minutes with a friend sharing the events of our day. As I explained the appointment, he asked questions about the results, what they mean, and how they will impact their lives. For example, will their physical improvements now allow them to do gymnastics or become a starter on the softball team? As I started to explain I realized that people’s reference point is their own children and what they can do today (if they are still young) or once did (if they are now adults). Our reference point has shifted from what we once expected the girls to do physically (keep pace with Dad on a three mile run) to what we do today (run down a short hallway at CHOP for the doctor). We still have high expectations for the girls, but these have shifted from large physical changes to smaller ones.

During the conversation I also realized that while we share a lot on this blog, we have not focused much on the small changes we see and how important they are for the girls’ physical and mental health. Here are a few which I believe have built a little character.

- Emma and the milk carton: Before treatment, Emma could not carry the one gallon milk carton from the refrigerator to the kitchen island without using two hands. During the appointment she proudly informed the doctor that she can now do it with one hand. Sure this is only three feet, but it is her daily reminder that she has improved. This builds confidence day after day.

- Maddie and her neck: A year ago I helped Maddie stretch her muscles by pulling her across a six inch high foam roller while she lay on her back. As the roller past her neck, the back of her head hit the floor. I thought she was goofing around and asked her to pick it up. She said, "Daddy I can't." I then stabilized my daughter’s neck as she completed her stretch and felt a pain in my stomach. Is this what’s ahead for us? During our December appointment Maddie showed she cannot only lift her head, she can hold it up without support for 10 seconds.

- Maddie and the sit-ups: Before treatment, Maddie could not do one sit up. Doing sit ups may not be important as we get older, but for a little girl who sees others knock them out, the inability can be isolating. During her review with the doctor, Maddie proclaimed, “I can do three sit ups!”  Off she went to the floor, one, two, three, followed by cheers from the medical team.

2010 is coming to a close and will soon be in the rear mirror. As I look back over the year, I think about what we have overcome and what the year has brought for others. Some people saw great things such as new friends, new jobs, and new grandbabies. Others saw unemployment, loss of parents, and the deep pain that comes when you are told your child is seriously ill. My Dad faced more than a few changes in his time from new grandchildren, to children being seriously ill, and finally to succumbing from something none of us would have expected.  However, he remained positive.

While he is not physically here with us anymore, I know he is present each time the girls receive Lumizyme, each time they lift that milk carton, each time they hold up their necks, do sit-ups, and each time his son puts pen to paper to tell their story. If he was here, he would remind us that the good changes in 2010 can be seen in the girls’ faces as their smiles have returned, in their posture as they stand tall and strong, and in their souls as the character they have built through struggle has allowed them to believe in a brighter future. I guess he was right all along. While changes big or small can be tough to accept some times, in the end "It builds character."

Time may change me
But I can't trace time
I said that time may change me
But I can't trace time

All the best in 2011,

Credit: David Bowie, “Changes”

Saturday, December 11, 2010


Imagine all the people
Living for today

Imagine all the people

Living life in peace 

You may say that I'm a dreamer
But I'm not the only one

It's not often that I think of life without Pompe anymore.  It is so woven into our daily lives that it seems like it has always been here.  I am used to helping Maddie with her violin case because it can become heavy, reminding Emma to be careful not to trip on the stairs, or watching Donna and the girls pack up and head out for yet another treatment. Pompe has become something which I never thought it would - - routine.  So, as I sat in New York City I was surprised to find myself thinking of life without it.

Last Wednesday night I attended a company Christmas dinner at Del Frisco's Steakhouse in New York City with about fifty of my co-workers.  As I sat in my chair overlooking the Avenue of the Americas to the left and the Fox News building on the right something caught my eye that I had missed in the morning's paper.  The news ticker read, "IMAGINE - 30th Anniversary of John Lennon's death".  Imagine.  

Here was a group of my co-workers spanning in ages from their 20s to their late 50's, evenly mixed between single and married, with children and without, and of all races and creeds.  Despite that mix, I guessed no more than three have ever heard the words Pompe Disease.  Other than my manager and a couple special people who I told in the early days, I've mostly kept Pompe out of the workplace.  I've kept it to myself so I did not have the burden of being constantly questioned about the girls and because I did not want people to carry the burden of always feeling they need to ask.  I've kept it to myself so I could concentrate on why I was there, to work.

So as I listened to my co-workers speak about their Christmas holiday plans, their families near and far, and their aspirations for 2011, I began to imagine.  I imagined what our life would be without Pompe and what their lives might be with it.  I imagined our life back in the days when everything was "fine" and how they would manage their lives with the worry of health insurance, the next doctor's visit, and how they would handle the constant chatter in a father's head about the future.  What would they do different than I, or better than I?  What could I learn from them?  Would they proclaim it from every mountaintop or keep it to themselves?

As the dinner wore on and fatigue took one victim after another, my imagination turned from those around me to the wonder of my kids.  I imagined what my kids would be doing years from today.  I imagined what affect Donna's day in and day out dedication to them would be carried when they become parents and grandparents.  I imagined how Emma's desire to become an advocate for rare disease would bear fruit.  I imagined how Maddie's wonderful personality would bring smiles to other kids at next year's MDA Camp and how Carter's strength as the middle child would keep their family bond together years and years down the road. And then I thought how lucky I am that the strength which should be in two girl's muscles has somehow found its way into their souls and has become an inspiration to many.  

So as I put on my coat and wrapped a scarf around my neck, I left my thoughts of life without Pompe behind and walked into the New York City cold humming...

You may say that I'm a dreamer
But I'm not the only one
I hope someday you'll join us
And the world will live as one

Happy Holidays!

Credit: John Lennon, "Imagine"

The IMAGINE memorial in the Strawberry Fields section of Central Park, NYC.

Friday, December 3, 2010

If I Needed Someone

If I needed someone
You're the one that I'd be thinking of
If I needed someone

If I had some more time to spend
Then I guess I'd be with you my friend
If I needed someone

Did you ever meet someone out of the blue and just know you would be great friends?  I'm not quite sure why this happens.  Perhaps it is because of shared experiences, similar interests, or in my case someone's ability to tell a great story which usually ends with a punch line I never expected. Whatever the reason, the good thing is that it happens and after that moment your life is a bit better.

Emma's Facebook page proves making friends is not a problem.  While all 369 of them are important, finding those special people with whom you can share your most private thoughts comes rarely.  Fortunately, she's been graced with a few who are so special we now consider them family.  They have traveled both smooth and rocky roads together and continue forward with inspiring dedication to each other.

That being said, her Pompe diagnosis was a game changer. Suddenly finding someone who has walked in her shoes became more important and more difficult.  You see, finding another with a rare disease is not as easy as it seems.  That was until the MDA Muscle Summit in October.  As we were gathering our things to leave, I turned and saw Emma talking with a group of kids. Before I knew it, a connection was made, a conversation started, and a friendship born. After a few short minutes, cell phones numbers were exchanged, promises to touch base online were made, and plans to get together cemented.

Since then there's been texts, phone calls, and even a short visit between the families which turned into hours of conversation over a good dinner and promises to see each other again soon.  Most importantly, she has found someone who understands like her parents never will. While at times it seems that we also have Pompe, the fact is we don't. She's found someone who feels what she feels, fears what she fears, and is inspired by what she's inspired by. So does this replace other friendships?  Not at all.  It just adds dimension to a life filled with so much more. 

So why did this friendship happen out of the blue?  Would it have happened without the MDA? I'm still not sure and it doesn't matter.  What matters is that if you keep your mind and heart open you never know when your next friendship may be born.  And, what matters most is that when my daughter needed someone it did happen and since that moment her life has been a bit better.

Had you come some other day
Then it might not have been like this

All the best,

Credit: The Beatles, "If I Needed Someone"