Sunday, August 26, 2018

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.

****
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














Sunday, March 18, 2018

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!



Tuesday, January 23, 2018

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.

**** 

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


















Sunday, November 19, 2017

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





















Saturday, August 12, 2017

A #FightingForMaya Update: Celebrate the Small Stuff


So it has been a bit of an intense week.  On Friday, we celebrated Maya's 22nd infusion.  I know, 22 is an interesting number to celebrate, but for our family it has turned out to be a really important number. A number worth celebrating

You see, yesterday was our first "commercial" infusion.  Maya officially, graduated from the compassionate use program for the enzyme replacement therapy and is now receiving replacement enzymes on a commercial basis.  "Graduation" means many different things, including, fewer vitals, no more over night stays, insurance pays for the treatment and hopefully less uncertainty.  The year leading up to this moment in time has been a grind, but we made it.

This week, exactly one year ago, our family made our first trip to Columbus, Ohio.  We went to Columbus so that Maya could be screened for admittance into the compassionate use program.

Except for a battery of tests, we really didn't know what to expect of the appointment.  For the most part, Maya had a really tough time.  She isn't that great with new people and during the appointment, she had to cooperate for at least six doctors, therapists and other new and strange faces.  Not a really comfortable position for Maya.

At the end of the appointment, the doctor asked the million dollar question. "If I call you and admit Maya, when could you be here?"  You can read my earlier posts to get a good understanding of how we answered the question.

Fast forward to today, and Maya's once experimental treatment has received FDA approval, our insurance company has agreed to pay for the treatment and we have transferred to our new hospital, Children's Hospital of Orange County (CHOC), only 90 minutes away from home.  Each step to this moment in time, required the efforts of so many people, many sacrifices, so many prayers and so much good luck, but we made it.

Yesterday, as we were wrapping up Maya's infusion, we sat and spoke with our friends Bekah, Danny and Ely (Maya and Ely have received infusions on the same day since last October and we transferred to CHOC together).  Bekah and I discussed the surreal feelings of the day.  So much worry, so much stress as our families traversed so many milestones and challenges during the last year.  Yet, here we were, wrapping up our infusions, headed home to sleep in our own beds having experienced and accomplished so much in such a short amount of time.

And so, for dinner last night, we went to Benihana for a post infusion celebration.  Not just a celebration for this day, but a thank you to those who helped make this day possible.

******

#FightingForMaya

Although things have understandably slowed down with our #FightingForMaya efforts, we continue to work hard to advance this campaign.  Most important we continue to support the research project at Texas Children's Hospital and to try and find others with Maya's specific diagnosis.  Despite the fact that the Enzyme Replacement therapy is available, we need to continue to prime the research/treatment/cure pipeline.  From a purely scientific perspective, we know that the enzyme replacement therapy will significantly slow the disease's progression and there is a reasonable chance that Maya may regain some functionality.  However, we don't know what exactly to expect and the therapy is not a cure.

We also know that this treatment only addresses the brain, is very invasive and very expensive.  We know that down the line other major organs may be impacted and we will need to have several tested, viable treatments available to address future issues in other organs.  It is also important to take steps now to provide less expensive treatments so that everyone is able to receive treatment without delay.

Perhaps, more important, we need to make sure that a cure is available.

To all of our #FightingForMaya supporters, thank you for helping us achieve so much in such a short period of time.

In a little more than a year, we have:

-Raised over $120k of the $200k needed for the research project at Texas Children's Hospital;
-Raised over $15k from sales of #FightingForMaya shirts alone;
-Distributed over 1150 #FightingForMaya shirts; and
-Thousands of #FightingForMaya pictures and videos have been shared on social media.

The awareness surrounding this campaign has been tremendous.  In a little under a year, we have found 4 new families with Maya's form of the disorder.  We've also received word, that more researchers are interested in studying Maya's form of the disorder and advancing the overall understanding of the classic and atypical forms of the disorder.

Each of these accomplishments could have only happened with your support.  Thank you.

****

Maya is doing well.

Yesterday was huge for her.  For the first time, since last October, Maya was able to sleep in her own bed after an infusion.  For Maya, who doesn't sleep well at the hospital, last night was an important milestone.

Maya continues to work really hard with her walking, speech and strength.  She can still only walk with assistance and her speech is slurred, but we continue to see small improvements.

Maya, as usual, continues to be her amazing self.  Inspiring so many people to accomplish so much.