A #FightingForMaya Update: "Like a Picture on a Sunny Day"

A #FightingForMaya Update:   "Like a Picture on a Sunny Day"

Photo Credit: Xavi_EL_Nino

We're back.  Our visit to the North East Kingdom of Vermont was AWESOME!!!

I'd love to write a ton and tell you all about it, but I'm tired.  We landed a little after midnight and our heads hit pillows around 2am (i.e., 5am eastern).

Right now, we're at CHOC (Children's Hospital of Orange County) for our infusion.  Thank you to our amazing CHOC team for coming in on a Sunday and supporting our much needed family vacation.  We truly appreciate your love and support.

To our friends and family in Vermont, words will not do it justice. Thank you for another amazing visit.  Thank you for sharing amazing meals, great stories, incredible adventures and your beautiful home.  We love you.

If you are new to our story or just trying to figure out the significance of our cross country treks to Vermont, then check out one of our previous family videos here, here or here.

I should probably write more, but know that Maya (and our entire family) had a wonderful trip.

Selfishly, I'm going to wrap with this Song and a couple more pictures.

Thanks for reading.

#FightingForMaya

A FightingForMaya Update: I Had a Good Day!!

"I Had A Good Day!!"

This was the text I received from Maya one recent afternoon.

I received the message almost a year to the day from when I first spoke with a friend about the possibility of making a move.  This wasn't just any move, but involved leaving my job of ten years, uprooting my family, saying goodbye to friends and starting anew in Los Angeles.

It was Maya's message, that reminded me that we had made the right decision.

*****

For all of our followers, it has been way too long.  If you follow on FB or Instagram, then you know that we are doing well.  We're settling into Los Angeles, making new friends, missing old friends and finding our way.

The boys are riding their bikes, exploring the neighborhood and having a grand time.  We've found a new soccer club and it is more than a club... "Its Framily" (I couldn't resist).

We're doing well.

*****

How is Maya?

She is well.  If you can't tell, she absolutely loves her Swim Therapy.  It is the highlight of her week.  She loves the exercises and more importantly, she loves her instructor and the fact that they are friends on Instagram.

In terms of the disorder, it is still the monster in the corner of the room.  Maya's speech is very difficult to understand and she is still dependent upon others (or mobility devices) to get around.... but you know what, I'm not complaining.

This October will be Maya's two year anniversary of receiving treatment.  No matter how much I want or wish it could be better, deep down I know that we are blessed.  I am truly thankful for every day that I can come home, speak with Maya about her day and have a good laugh.  These moments are priceless and I am thankful for those who have sacrificed to make it possible.

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What's next?

We are approaching our final year of the research project at Texas Children's Hospital.  To date, with your help, we have raised $145,000 of the $200,000... WOOT, WOOT.  If you haven't or if its been awhile, consider making a donation directly to the project at the above link.  The project at Texas Children's Hospital is specifically studying Maya's form of the disorder as well as the classic form.

After lots of requests, we're going to open up another run of #FightingForMaya shirts.  If this is your first shirt or if you need a refresh, please feel free and order here. All profits from the shirts go to the research project at Texas Children's Hospital.  Delivery time is about four weeks from the date of this blog.

As always, once you receive your shirts, feel free to post a selfie and tag it with #FightingForMaya. 

A good friend told me the other day, there is nothing more amazing than wearing your #FightingForMaya shirt, having someone ask about it and sharing Maya's story.  Trust me, It makes a difference.

As always, thank you for your continued love and support.

#FightingForMaya

A #FightingForMaya Update: How to Eat a Whale.

For our family, February was a very busy month.  I settled into a new job.  The household went into full relocation mode with selling our Ocean Beach house and working to locate a new house in L.A.  Of course, this means lots of busy days and nights.  Emotionally, its hard to say goodbye, but also exciting to start anew.

In the midst of it all, I took a brief trip to Copenhagen, Denmark.  I was invited to participate in a symposium that was exploring the various phenotypes of Maya's disorder.  I presented on the families' perspective.

It really doesn't capture it to say that I was both "honored" to represent the families that we have met along this journey and "emotionally overcome" by the sheer magnitude of our five year journey from diagnosis to that meeting in Copenhagen.  It is impossible to describe how I felt sitting in that conference room in that far off city for two and half days, while doctors and professionals from around the world discussed the disorder.  The English language does not have words to describe how lonely and lost we were when Maya was first diagnosed.  Yet, here I was in this room as professionals explored the disorder and how best to support, treat and one day cure those impacted.

I'm often asked, what will come out of the Copenhagen meeting.  Its almost as if people are expecting that I would be handed the magic white pill at the end of the meeting.  The pill that will cure it all and rewind things to that day when Maya could run and jump and sing.  Perhaps, that is what I secretly wanted.

In the end, the meeting was a step in the right direction.  One bite of the whale...

Melinda Mae
by Shel Silverstein

Have you heard of tiny Melinda Mae,

Who ate a monstrous whale?

She thought she could,

She said she would,

So she started in right at the tail.

And everyone said, “You’re much too small,”

But that didn’t bother Melinda at all.

She took little bites and she chewed very slow,

Just like a good girl should…

…And in eighty-nine years she ate that whale

Because she said she would!

A #FightingForMaya Update: What if you had to?

Several months ago, I awoke in the middle of the night.  I wasn't really startled, but I just woke up and couldn't fall back asleep. Like too many of us, I immediately reached for my phone and checked if I had missed anything during the last few hours of slumber.

As some point, I realized that a friend (another rare disease dad) was awake and online.  Perhaps I was intruding, but I pinged him and asked how things were going.  After a few rounds of back and forth, I asked why he was up (he is a couple of hours ahead of us).  To my surprise he answered with painful honesty... he was wondering if he had done enough.  Had he missed anything in his pursuit to save his children.

It was brutal.  It was honest. It is a common struggle within the rare disease community.

*****

There really isn't a rare disease playbook.  No one person or organization has the answers.  The list of things that can or must be done is simply overwhelming.  I've found that most parents pick one or two areas of expertise (e.g., legislation, research, fundraising or caring for their child) and drive hard in that particular direction.

In the face of overwhelming odds, it seems to be the best possible answer.

****

Last week, I had the absolute pleasure of visiting Agility Clinical and sharing Maya's story.  Our friend's sister works at Agility and she has followed Maya's story over the last couple of years.  When Agility scheduled their 2018 All Hands Meeting, she asked if I would be interested in sharing a bit more about our family's story.

Agility Clinical is focused on the rare disease community and provides full clinical trial services from study design through to regulatory submission for marketing approval.  They are good people.


Below are a couple of pictures from the talk.  Thank you Laurie, Agility Clinical and Mark for helping us share our story.

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The question I receive most often is "How is Maya?"Its a tough question to answer, but she is doing well.  Without treatment, we believe that Maya's gains would be non existent and her progression would be far worse.  Although we don't have a cure, we do feel that we have bought more time.Maya works very hard everyday to improve her walking and balance.  She can't walk independently and depends on a wheelchair to cover long distances. However, she shows such conviction and drive to regain the ability to stand and walk.  It is inspiring.

******


"What if you had to?" is something that my favorite spin instructor asks of the class at those most critical of moments.  Those moments when 99% of your body and mind says give up and only 1% is pushing you forward.

Each day we are fortunate enough to witness Maya and so many other Rare Disease patients and families answer the question... What if you had to?

Thank you for your continued love and support.

#FightingForMaya

A #FightingForMaya Update

There we sat.  It had been at least seven years.  He had asked for the meeting and said that I could move it if I was too busy. 

I didn't. 

We exchanged pleasantries...

     "What division are you in?" 

     "Remember the old days?"

     "What are you working on?"

We only had thirty minutes and I couldn't figure out why he had asked for the meeting.  I couldn't figure out what obscure project required my assistance.

Then he said it... "His daughter had been recently diagnosed with a rare disease."  It hit me like a bomb... why hadn't I seen the signs.  Would I ever see the signs?

I got up, and against his objections, I asked my assistant to clear my calendar.

His wife had read about Maya and insisted that he come and speak with me. 

I got it. 

I remember the fear, the burden... How could I (a successful adult) ask for help?

I did my best to channel those who listened to Maya's story... those who supported and helped when Maya was first diagnosed and I listened and did my best to share what we had learned during our own journey.

It wasn't the first time and it won't be the last. 

That is my promise to Maya.

******

Our family has been very quiet for the last couple of months.  Sort of in hibernation.  Really just trying process the last year and to re-establish who we are as a unit.

As those Facebook memories come across our feeds, reminding us of all that we as a family endured, only during those moments, do we fully comprehend what it took to get Maya access to treatment, traveling thousands of mile, every two weeks, to a far off city. 

I recently took a look at our calendar from October 2016, and I remembered printing a copy for each of the boys and telling them that "Either mommy or I would be back for birthdays, soccer games and other important events, but grandma and grandpa would be with them during the week."

 I remember thinking that if we made it through this journey, that the boys would be stronger and this push (to save their sister's life), by their family and their community, would forever provide them with the strength to accomplish anything.  IT HAS!!!

There is a lot that we as a family have to do to repair the sacrifice of the past year, but we're going to be okay.  We are going to be way more than okay!

*****

A couple of Fridays ago, I sat across from Maya's doctor and asked if we could review Maya's old videos.  Those videos of her walking and talking when we first started at CHOC.  I'd recently been faced with a bunch of questions,

"How is Maya?"

"Is it working?"

To his credit, Maya's doctor reminded me of that month when Maya came off of treatment, due to an infection. 

"Remember how she stooped as she walked?" 

"Remember how much you had to support her as she walked?"

"You know the science.... every infusion is a success... every day without regression is a really good day."


*****

How can you help?

When we started, Maya was the 8th reported case with this form of Batten Disease.  Today, I know of well over 30 people who have received this specific diagnosis.  Some estimates say that the number is well over 100.  We have come a long way, but there is still more to do.

1.        If you are able, please make a donation to the research project at Texas Children's Hospital.  This program is studying Maya's specific form of this disorder (as well as the classic form).  The moonshot of this project is a less invasive, less risky treatment for those who are dealing with this disorder.  http://waystogive.texaschildrens.org/scar7.  To date, we have raised $120,000 of the necessary $200,000 for this four year research project.

2.       At least once, between today and the end of the year, put on your #FightingForMaya shirt, take a selfie and share Maya's story.   This one small act could make all of the difference for one family... it could be the reason for my next meeting.

Happy Holidays and thank you for your continued Love and Support.

#FightingForMaya