Map in Senator Schumer's office - Stony Brook & Setauket represent!

Hope on the horizon…

I swear I am trying to get better about blogging.  Each time I post, as I click the “publish” button sending my ramblings into cyberspace, I make a promise to myself that I will blog more often.  Then I procrastinate, followed by total avoidance.  When I do finally get down to business, I obsess over every word.  I worry that nothing I write will be eloquent enough, or profound enough that I should ask you to read it.  Today I realized that even worse than the risk of boring you with an excess of insignificant and clumsily worded blathering is the risk that you will assume the infrequent posting is attributed to a lack of exciting advancements to report, which could not be further from reality.  So here goes…

THE TIMES THEY ARE A CHANGIN’

Stasia and I headed down to DC a couple weeks ago to attend the most comprehensive annual DMD conference in the world.  We participated in two intense days of scientific presentations as well as visited with the health liaison for our Senator, Chuck Schumer.  I’ve been to this conference six times since Javier was diagnosed.   My first time there, there was just one drug in human clinical trials – a drug that won’t work for Javier’s genetic mutation.  A lot of the parents I met complained that nothing was changing, that the scientists seem to say the same thing year after year.  Fast forward to today and that same drug has received conditional approval in Europe and will be submitted to the FDA for use in the US in 2016, there are over 25 studies actively recruiting patients.  We take this as a strong signal that hope is on the horizon.  

WHAT THIS MEANS FOR JAVIER…

A lot of promising clinical trials is what we asked for and finally!  We are getting what we have been asking, begging and praying for.  You know the saying, “be careful what you wish for”?  The downside to the increasing number of trials – and it kills me to say anything negative about the auspicious position this patient community now finds itself in – is that we have to choose very carefully.  As of a week ago, Javier was enrolled in a clinical trial that he was to start next week.  Then Stasia and I watched a biotech’s presentation of a drug that appears to be doing amazing things (disclosure: Hope for Javier has invested in this drug’s development).  They are recruiting two new cohorts of patients for what will be an intense trial, not for the faint of heart (well technically it is for the faint of heart – and everything else, but you know what I mean).  If Javier were to start the other trial he was committed to, he would be made ineligible for any new trials – including this very promising drug.  It’s a long shot we will even get into the new trial (there are just five slots to fill, only two of them for boys who no longer walk – and 7 kids ahead of Javier) – but a long shot is better than none.

THE ASK

Whatever god you pray to – and even if you don’t normally pray – we need your positive thoughts and prayers that a space in this promising clinical trial – a space made just for Javier – opens up.

OUR BOLD ENDEAVOR – THE HEALTHCARE INITIATIVE…

Since Javier was diagnosed, we’ve traveled to Cincinnati every year for care.  Hard to believe since we live here in NY, the epicenter for healthcare, right?  That is all about to change!  Our plans to transform care for NY / NJ / CT area boys with DMD has taken a giant leap forward and continues to move ahead at breakneck speed.  We are working hard, collaborating with an amazing team from Stony Brook Children’s Hospital and will be updating you very soon on this exciting project!

That’s it – I’m stopping now because I don’t want to “laundry list” you any more than I already have.  And I know myself too well to end with a solemn promise to blog at least once a month. Instead I ask that you think of Hope for Javier the next time you need a gift, the next time you have a birthday, or like our board member Natasha Kardos (née Pirogovsky), who to Javier’s dismay just married someone else, someone a little older – and asked her guests to donate in honor of their joyous occasion.  Congrats Natasha + Philip!

Mr. & Mrs. Kardos

HOPE for blog

Birthday Wishes

I truly understand what people mean when they say life is a gift.  Today I turned 43 years old, which is something many women would not want to publicize but I know firsthand that aging is a privilege.  My phone has been blowing up all day with birthday greetings and while I should be happy to have so many amazing people sending me their love, every “bloop bloop” text tone with another “birthday wish” is like a blow to my heart.  It’s hard to be in this day, living this milestone while Javier’s projected lifespan is less than half of the years I’ve already been afforded. 

So a few months ago I started a daily gratitude list.  Every day I log at least 5 things I am grateful for, which helps keep me from drowning in sadness over Duchenne.  When you have to come up with 5 things a day, they aren’t all profound – unless you think clean sheets on the bed is profound.  The top of my list is often the healthcare that Javier is fortunate to be able to afford access to.  Imagine if we could add that to the gratitude list of every parent of a boy with Duchenne?

I have a birthday wish.  It’s a big one.  I wish that every boy with Duchenne had access to multidisciplinary care.  It’s been proven to add 10 years to DMD boys’ life expectancy.  And if I got that wish and ALL boys had the chance to live up to 10 years more…  Well, give me five more minutes with Javier and I will find a way to buy 5 more.  That’s it.  It’s that simple.  Science is moving fast – so fast that ten years is the difference between being here when a cure is discovered – or not.

To all those who support our efforts, from simply being aware to funding our projects, thank you!  You are all on my gratitude list – this and every day.

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JEN HERE, JAVIER’S MOM

If you don’t already know him,

Javier is a hysterical, quirky kid who loves life and proudly marches to the beat of his own drum.  He loves his Nintendo Wii and Katy Perry almost as much as he loves writing risqué mad-libs and eating bacon in any culinary format.

When Javier was 3 ½ years old, a darkness fell from the sky, landed on my family and broke it into more pieces than could ever be imagined.  So many pieces that life as we knew it was over.  Javier was diagnosed with Duchenne muscular dystrophy (DMD).  The prognosis is horrifying.  It’s 100% fatal.  The disease is rapidly progressive, and affects every muscle in a kid’s body; their skeletal muscles, the heart which is a muscle, and the muscles of respiration.  By adolescence, the kids are wheelchair bound and by their mid twenties, they die.

This is the type of news that paralyzes most; the sadness, the anger and the fear is enough to stop anyone in their tracks.  For my family, we were determined to push through this… and to save Javier’s life.  In just a few months after we received the tragic news that our son was diagnosed with DMD, we decided to start Hope for Javier, a non-profit organization that invests in cutting-edge research aimed at finding a therapy or a cure, as well as supporting advocacy efforts to maximize the research investment and ensure the best possible quality of life for these boys.

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birthday

DAYDREAMING

Something about a birthday

makes me feel the need to reflect on where I’m at, where I’ve come from and where I hope to go.  This year’s birthday, I spent way too much time frivolously daydreaming about what type of person, parent, wife I would have been had I never heard of Duchenne…  Imagining what a carefree parent I could have – would have been, all from the sidelines of a soccer or lacrosse field.

The reality of our personal landscape is that we get to watch Javier lose more than gain.  All of the skills gained in early adolescence (standing up, walking, going to the bathroom without assistance) are being lost by my 8 year old, right before my eyes everyday.  Where there should be cheering for a triumph on a soccer field, this week we cheered the success Javier achieved in finally (FINALLY!) learning to swallow pills – up until now all his meds are compounded into a liquid suspension.  Watching Javier the moment he realized that yes, he could swallow a pill and that no, he would not explode (the level of fear was beyond irrational)… this moment provided all the relief, happiness and pride that other parents feel.  This wasn’t the achievement I imagined feeling pride over when looking at newborn Javier but it was an achievement nonetheless.

Earlier in the week, I found out from school that Javier’s recent IQ test proved him a bonafide genius, with processing speed that puts him in Mensa territory.  Imagining what Javier has the potential to do in his lifetime is bittersweet knowing that Duchenne is hot on his heels, chasing him toward an early departure.  So it’s time to stop imagining, time to stop daydreaming – I am resolute in my determination to change the outcome for Javier and this generation of boys diagnosed.

Note to Mensa:

you really need to work on your selection of merchandise – it’s impossible for a proud mama to satisfy her shopping and bragging needs on your site!

SHOES

THESE SHOES WERE MADE FOR WALKING

Picture day at school

is a ritual that all kids are forced to endure not just on the day of, but for decades (I wish) to come.  Forced smiles in front of a staged backdrop that implies serious learning is going on when glamour shots is not in town will be pulled out for years to come by proud parents and grandparents to the total embarrassment of the pictures’ subjects.

Javier usually likes to ham it up, which makes overpaying for these pictures bearable – for me anyway.  Photos of Javier in a library setting where you can tell that he has pushed the buttons of every person there and is quite pleased with his achievement of driving everyone mad – those are my favorite.

Javier attends the Henry Viscardi School, an institution of learning for children with physical disabilities.  An amazing staff aided by amazing technology erases all boundaries and physical limitations, pushing each child to achieve their personal best.  While most children with degenerative illnesses do not begin attending Viscardi until they are ‘in a chair fulltime’, Javier started there a bit before that.  We made the transition a little early in part because of difficulties in the mainstream setting, as well as that we didn’t want his arrival there to seem like some kind of punishment for losing the ability to walk.  Javier is a really competitive kid who is like a prisoner, trapped in a body that can’t keep up with the level of energy and appetite for trouble he has.  Last year when the majority of his class was seated in wheelchairs for the class photo, Javier was standing, leaning against one of his classmates’ chairs, loving the camera and every minute of being one of the few people standing in the room.

The school had asked for volunteers to help with picture day.  Needing to be at work, my sister Anastasia volunteered to help out in my place.  As usual, Javier played her like a violin, convincing her to stick around a few hours after the photos and chauffeur him home, saving him the hassle of riding the bus.  One would think that she’s such a pushover because she doesn’t spend enough time with him to know his shtick but that’s not the case; she spends plenty of time of him, knows his shenanigans but still willingly lets him get his way, even when it means going out of hers.

Having boots on the ground, an eye in the sky is always nice for me because I get to hear about Javier’s behavior when I’m not there to yell at him, plus helps me keep up the facade about how I see everything he does, all the time, no matter where I am in relation to him.  Yes, this has presented its challenges at times; he will on occasion hide in a closet and ask me to use my powers to see how many fingers he’s holding up.  So far, I’ve been pretty lucky and he’s also not really great at hiding so my claim of possessing super powers remains credible.

When Stasia dropped him off she mentioned how tired he was all day and that he chose to remain seated for both his individual and class photos.  This remark, passed to me quickly while we were both rushing was no casual statement; Javier would never sit in a room full of seated people unless he really couldn’t stand.  What happened to the boy who relished the opportunity to be the only one standing?

I remember this summer

looking at the bronzed baby shoes on a shelf in the living room; one of my mother’s own, one of mine and one of Javier’s all lined up (my mom has the second of each).  I remembered buying Javier that first pair of walking shoes and when he outgrew them, maintaining the family ritual of having them bronzed, which meant little to me at the time other than I was following some tradition.  I put off buying Javier his current pair of shoes for as long as I could.  The summer was clearly over but he was still in his sandals because I couldn’t bring myself to get this current pair of shoes; I knew when I bought them that they would be his last pair of walking shoes.  Age 8 and I could bronze his last walking shoes and they wouldn’t look that much bigger than the first pair.

I am not sure where this is going but I know that as long as I have a breath left in me, I am going to fight to buy Javier more time.  He may be wearing his last pair of walking shoes but he’s still got a lot of ground to cover and I am going to see to it that he does.  Thanks for listening and for the support that keeps us moving forward.

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INFINITE POSSIBILITIES

SUNDAY, PAST MIDNIGHT

and cannot sleep.   Stared at Javier for what felt like a really long time. Still unable to stop or even slow the racing in my mind… listened to him breath, watched his restless sleep, tossing and turning in discomfort caused by cumbersome leg braces. Tick-tock, tick-tock… not sleeping is nothing new; writing instead of trolling message boards looking for other Duchenne parents awake at this ungodly hour (or in a different time zone), writing instead of reading more about the progression of the disease than is necessary or good for a parent’s survival… this is new.

I had some time this evening and used it to go through hand me downs from Javier’s cousin harry and to pack up clothing that no longer fits for Javier’s new cousin (arrival imminent). A lot of Harry’s clothing has a sporty theme; so many shirts are emblazoned with a football, a baseball, a soccer theme. I imagine how Javier might feel, as he gets older, wearing this sporty clothing, representing games he will be unable to participate in. Every shirt that passes through my hands, every Nike swoosh, every rah-rah football is like a cruel joke. Despite that Javier is a couple of years from even fitting into this stuff, I angrily toss each item into a bag for my brother’s baby that isn’t even born yet. Irrational?  Maybe.  But saving clothing that will not fit for 2 to 3 years, during which time his body will deteriorate, becoming less and less “athletic”, forcing this wardrobe issue to be addressed again in two years is not something I want.

Then I come across a box of stuff I haven’t looked at or thought about in ages; a box with a few outfits I saved from when Javier was a newborn, a rattle and the blanket I had him wrapped in almost every day for the first year of his life. I smell the blanket and it smells like promise. It smells like infinite possibility. I remember that first year of Javier’s life, of all our lives that year; talking about what an amazing salsa dancer Javier would no doubt be, what a real live latin lover he would be, what college he would attend and all the girls that would never be good enough for him. For a split second I think about throwing all of it in the bag destined for my brother’s baby. I kept it. I kept all of it. Maybe in another year or two, when I’ve forgotten it is in the back of the closet, I will come upon it and smell all that promise, all those possibilities again. That Dreft baby detergent, it is an amazing product… how they infuse clothing with the scent of potential is amazing.

I took for granted that Javier would have the world laid out in front of him, with only the normal wackiness of youth as his personal hindrance. We all took that for granted the first time we saw him. The infinite possibilities have given way to an intense hope on good days, a terrifying anxiety on others. The hope we hold out for is that there will come a time when science will catch up, that Javier is here when it does and that one day… one day we will be rewarded by being able to take something as extravagant as Javier turning 30 for granted.

With your support, nothing is impossible.

With sincere gratitude,

Jen