Hope is a Journey….

Me, Myself, and I

As a child, I remember dreaming about how life would be when I grew up. I would meet and
marry my soul mate, we’d have children, and we’d live happily ever after.
I could have never imagined how my life would play out.

As it turns out, I did meet and marry my soul mate, and – after a year of trying to get pregnant –
a new bundle of joy was finally on the way.

Call me “naïve,” call me “ignorant,” but I just assumed that everything would be perfect.

When Will was born, it seemed like everything was perfect. And in some ways, it was: 10 fingers, 10 toes, 2 eyes and a cute button nose.
I never thought things would end up where they are now.

As time went on, we began to realize that our vision of ‘perfection’ was clearly skewed and just
an illusion. It was a terrifying and gut-wrenching journey. Those that traveled it with us were just
as flabbergasted as we were. Life was certainly not what we envisioned it would be – and it was heartbreaking.

By the time we figured out what was wrong with Will, I found out that I was (unexpectedly)
pregnant with Sasha. I was terrified that she too would have the same issues as Will. Little did I
know, we were in for a far more difficult journey with her than we had been through with Will.

It truly was such a dark time in our lives because it just felt like, no matter what we did,
something always was going wrong. And no matter how hard we prayed, the answers weren’t
good. The things that were happening to our children were so astounding to us. It was hard to
believe that 2 kids could have so many issues, that they could be sick so often….and that it
would last as long as it did and (often) be as severe as it was.

We were young and full of our own expectations – and the truth was such a hard pill to swallow.

The truth was that our children were not going to live a ‘normal’ life (whatever ‘normal’ is) and
that the dream that we had shared (of having a nice, normal, and quiet life walking into the
sunset of ‘happily ever after’) was just that: a dream.

Much of the beginning of our journey, we traveled alone. Some people tried to be supportive and
understand, and yes, there were a few family members that have stood by us through thick and
thin from the start, but most of our friends and family couldn’t understand anything we were
going through. It was just so overwhelming for them (and I agree, it WAS overwhelming!). I
guess – if I were to put it into words – it felt like Ralph and I were in this abyss of darkness and
we were reaching for someone or something to pull us out. It was truly a terrifying and lonely
place for us. We were struggling to understand what was happening to our children and many
people just couldn’t handle our ‘reality.’ At the time, we were angry that – in our greatest hour of
need – most of our friends and family just deserted us. What we didn’t realize was that this was a
hard reality for them to face as well.

When the immunologist told us that Sasha would need to start the Gammaglobulin therapy, my
heart sank and it felt like the end of the world. To think that I would have to be putting 2 needles
into my kid each week and pumping her full of blood from thousands of donors just scared the
heck out of me. Little did I know thatthis would be the turning point in our story.

A month before her first infusion was slated to begin, I decided that it was time to take action I
was tired of feeling isolated, scared, and angry. Instead, I wanted to do something and I wanted
to help others that were in my shoes. I never wanted another person to ever feel the confusion,
anger, and sadness that we had gone through alone. I wanted to be there to support people
through this complicated medical maze.

Our first blood drive
first blood drive

I contacted Children’s Hospital and set up our
first blood drive. It was held a few months after
her first infusion in May of 2007. It was a
wonderful success! At the end of the day, the
feeling of satisfaction and accomplishment I
felt for being able to make a difference was
immeasurable. To see people come out and
support my daughter – and to support a need
(the need for blood) touched my heart and
reignited that flame of innocence and
hope I once had.

Our IDF group that went to Capitol Hill

IDF Group

I knew, from that moment on, that I had a calling. And I had to answer it. I contacted the Immune Deficiency Foundation (IDF) and told them that they had the option to work with me while I raised awareness and funds for Primary Immunodeficiency Disease (PIDD) OR I would just work alone – but either way, I was going to do something.

Kathy, from the IDF, was thrilled to have me work with them, and a beautiful relationship began between the IDF and our community. “Team Will and Sasha” was formed. Within months it grew into “Team Hope” as it began to support more than just Will and
Sasha. A group of parents were banding together and making a difference!
It was a feeling that could never be expressed properly in words.

Our Family with Senator Kerry (MA)
Senator Kerry is fighting for legislation to provide better access to their lifesaving treatments
With Senator Kerry

I also became involved in legislative efforts for
our patient population. Part of this movement
led Sen. Kerry to introduce legislation to the
Senate that would help our PIDD patients have
better access to their life saving infusions. I
can’t even begin to explain how amazing it was
to be a part of something that was so much
bigger than me or my two children.

Suddenly, our world around us was no longer
dark and scary – it was full of light, hope and joy.
The feeling was amazing. It no longer felt like
we were waging a war alone and in the dark.

Was it scary and dark sometimes? Sure, but we had this newly found Hope.
We were in this journey with so many other people….we felt less alone through it all, and that made all the
difference.

As time went on, it was quite clear that Sasha had much more going on than we originally
thought. When she started having difficulty walking, eating, and drinking, shaking spells,
facial asymmetry, and periods of unresponsiveness (without reflexes or any type of
response) for up to 45 minutes at a time, the conversations between us and the doctors
took a serious turn. We were absolutely terrified. More and more, we were hearing
doctors discuss genetics in detail, her specific genetic mutations and deletions, energy
metabolism and Mitochondrial Disease.

We didn’t know what hit us. We had finally began to understand the immune system and
all its functions at a deeper level, and now we were being thrown all kinds of new things to
research and learn about – and none of it was simple. This began a tedious process of
hospitalizations and many visits to specialists at Children’s and Mass General Hospital. It
was one of the worst times in our lives, primarily because no doctor was able to say with any
certainty what was going on within our daughter.

Throughout these months, I immersed myself in medical literature about the various
conditions they suspected could be affecting Sasha. I met countless individuals who were on
the same journey we were on – and became very close with many of these incredible people.
Again, feeling as if we weren’t alone on this path was a great comfort to both Ralph and me.

When it was discovered that Sasha had many genetic mutations that were rare – and that she
was believed to have some form of Mitochondrial Disease or dysfunction – we were referred to
specialists out of state. This process was drawn out for over a year – some tests were good,
others were not good, but there was no test that was definitive either way. So the Mitochondrial
question continued to loom. All of our trips yielded another piece to Sasha’s puzzle. And, sadly,
our journey through uncertainty isn’t one that is unique. So many people go through this just for
some sort of answer – and at times, unfortunately, there aren’t any.

We consulted with some of the best specialists in the world regarding her various genetic
presentations because we wanted to be on the right path getting the proper diagnosis. At that
point, the working diagnosis for Sasha was Mitochondrial Disease; they now believe that there
is complex genetic disease process occurring that they’ve never seen before.

In April of 2009, Ralph and I were asked by the United Mitochondrial Disease Foundation (UMDF)
to help lead the New England Chapter. It wasn’t because our child had an ‘official’ diagnosis, but
because they saw our desire to be a ‘part of the cure’ – regardless of the diagnosis. Without
hesitation, we both agreed. Ralph became a board member and I became Co-Vice President of
the chapter. We knew that – no matter what the outcome, whether or not Sasha or I had
Mitochondrial Disease – we were passionate about making a difference within this community.
We wanted to be a part of the cure. And that was enough for us and for the UMDF.

Award time at the IDF National Conference
IDF national conerence

Ralph and I have continued to be active with
both IDF and UMDF. In June 2009, we were
invited to the IDF’s national conference . While
there, Michelle (another Team Hope mom) and
I were honored as fundraisers of the year
nationally – And they shared our story about our
efforts with Senator Kerry to illustrate how it just
takes one person to make a difference.

Performing at the UMDF National Conference
Performing

The next week, I sang on stage at the UMDF National Conference in front of 500 or so people about our journey through illness and the power of hope. My music was able to move many in the audience and touch many hearts. It was comforting to know that I was able to reach out in this way to those who are on the road of uncertainty. I met so many people. And I heard so many stories of incredible strength, determination, and love. I was moved beyond words. The urgency to find a treatment and cure permeated the air – and burned into my heart. This energized and motivated me to do more!

Ellen and I having a good laugh outside of Sen. Kerry’s office!
Me and Ellen at Kerry's office

I continued my correspondence with Sen.
Kerry’s office and was part of the movement
that led him to be an original co-sponsor of
the new legislation for Mitochondrial Disease
(S.2858, the Brittany Wilkinson Mitochondrial
Medicine Research and Treatment
Enhancement Act). Again, it was amazing to be
a part of something that was far bigger than
Sasha and myself!

The float for the Chelmsford 4th of July Parade
Independence Day Parade

Throughout the summer of 2009, we
participated in a parade and a few small scale awareness/fundraising events for both IDF and
UMDF. This included the Chelmsford Independence Day Parade and Festival.

IDF Patient Education Meeting
IDF Patient Education Meeting

In October, I was proud to have been asked to run a large scale patient education meeting for the
IDF which was a great success.

Then we slowed things down and enjoyed the holidays with our families. It was great to have
time to rest and rejuvenate! I knew right from
the start that 2010 was going to be a busy year.
There were many events that needed planning, but while the planning was in full force, our
journey with uncertainty continued.  The doctors began to do testing on me as well given the
nature of my medical issues – and we waited 3 long months for answers.

In hopes of getting those answers, we took a bit of a break in March 2010 and traveled down to
Atlanta to see Dr. Kendall (an amazing Mito specialist) for both Sasha and me.  It was there that I
received an official diagnosis of Mitochondrial Disease.  When this came to light, it was
suggested that the rest of our symptomatic family be tested.  They now had identifiable
genetic factors they could look for in the others. The testing process would be quite simple:
look for the exact mutations and see what the results were.  The testing revealed that 5 out of
6 of my family members tested that had the same mutations identified in my testing.  I’d like to
say it was a shock, but I think we all knew it deep down.  While there was relief that we finally
had a name to our health ailments, it certainly wasn’t a happy feeling to know that what we
were dealing with wasn’t exactly a bowl full of roses.  But at least we know what path we need to
go on now to keep ourselves in the best health we can be in.

Having a diagnosis changed nothing and everything at the same time. I was sad to have the
answer be Mitochondrial Disease because I was praying it was not. But I knew that this was the
path that was chosen for me and I wasn’t going to let it destroy me – especially since I knew I
could be a part of something positive and bigger than me or this disease. So with that, I got my
head in the right place, my horizon refocused and my feet to the floor. Nothing was going to
stop me.

While I had high aspirations, a few things needed to change in my life in order for me to continue
to do all the things I wanted to do.  I had to learn to listen to my body and do what needed to be
done in order to keep living without having medical setback after setback.  I was encouraged by
my doctors to use a wheelchair when tired (which usually happens after about 20 minutes of
exertion) and to take frequent breaks throughout the day.  It was not what I wanted to hear, but I
had a choice to make: I could keep doing what I was doing and continue to have issues (severe
pain, cutting trips short or even avoiding certain trips); or I could choose to do what is best for
my body.  I began using a wheelchair – and it made such a difference!  I was able to go places
with my children and family that I hadn’t been able to go in a long time.  I was able to save my
energy for better things, like spending more time outdoors with my children.  I learned that
sometimes doing what isn’t ‘comfortable’ for you can really change the whole outlook of things.

IDF Advocacy Day
IDF Advocacy Day

April 2010 was a fun – but busy – month. There was a lot
of planning and also a trip with my friend
(and partner-in-crime) Michelle to participate in the IDF’s
Advocacy Day in D.C. It was met with GREAT success!!!

Bob Nash, doing what he does best!
Bob Nash

May was even crazier!  I began recording my newest musical endeavor, Hope Rising: The Journey.  This album is so very near and dear to my heart.  It is a compilation of music that I’ve written over the past five years about our journey through chronic illness, the unknown, and hope.  The goal is to offer the same hope I’ve found to others who are on this journey, to give comfort to those who are struggling,
and to raise awareness about the impact the journey has on the lives of those involved.

In mid-May 2010, my friend Michelle and I hosted the second annual Wine Tasting even for
Team Hope
. Michelle did so much of the work and it really paid off! The Wine Tasting raised
over $16,000.00 for IDF/Team Hope. It was an amazing night!!!!!

A week later we held our first ever UMDF Energy for Life Walk-A-Thon that raised over
$30,000.00. Around 200 people from all over New England joined together at the MIT
campus in Cambridge, MA, to prove that we will not be victims, but rather “Part of the Cure.”

We also launched our “Action Center” to get support for legislation.  It was a massive
undertaking that couldn’t have been done without the help of the AMAZING committee.

The 2010 Independence Day Float
Float

Summer 2010 began with preparations for the 4th of July Parade and Booth on the Chelmsford Common. This mainly consisted of Ralph building the float with the help of Keith. The float was a great success and brought together both the IDF and the UMDF.

Never passing up a chance to get in some face time with our legislators. Especially in our matching Mitochondriac Shirts!
senator brown

While working the event, we met many people,
including Senator Scott Brown,
Congresswoman Niki Tsongas,
Lt. Gov. Tim Murray, and
Mrs. Massachusetts, Jane Marshall. We also
had great success with our fundraising and
action center. From this event alone, we
gathered over 100 signatures for the new Mitochondrial Disease legislation.

Will surrounded by our lovely group of gals!
Mrs. Massachusetts

A few weeks after the 4th of July, Team Hope hosted a blood drive that brought in 51 pints (which is an awesome number for a summer drive) with the help of our good friends, Chelsea and Keith.  After meeting her on the 4th of July, Mrs. Massachusetts Jane Marshall joined us for the event. She pledged to help us in any way she could.

Definitely a successful meeting!
Sen Brown's aide

Around the same time, my friend Chelsea and I ventured out for our first ‘solo’ mission to the
Federal Building in Boston to meet with Sen.
Brown’s aide.  The meeting was highly
successful (we met for an hour and twenty
minutes!) and we’re hopeful that Sen. Brown
will sign on to the UMDF legislation.
It was a LONG and tiring day, but with the help
of Beast pulling the chair (he does an awesome job) – we made it through the day!

Not too long after that, we held a family gathering for our Mito friends that brought 35 people to
our house – it was wonderful to be able to enjoy the company of others and be able to celebrate
life and hope!

The end of the summer brought with it the end of the recording process for my album,
Hope Rising: The Journey. The album never would have been possible without the help
of my good friends Juleen, Lisa, Nathan, Yahuba, Bob, and Jess.   We also were putting the
final touches on the UMDF Patient Education Meeting (Sept. 25th, 2010).

We took a break during the 2010 Winter (that’s usually the toughest on all of the
mito/immune deficient folks) and I found that my health began to decline.  While it was
difficult to do so, I reached out to Chuck at the UMDF and let him know that there just wasn’t
any way that I could continue to lead our chapter in an efficient manner given my health issues,
but I promised I’d still be active and continue to support UMDF.  He was so grateful and
understanding.

2011 began with a 6 day hospital stay – which gave me a lot of time to think about what I wanted this year to be about.  I had a lot of ideas….
the trick would be to be physically well enough to actually put my ideas into action.   I began planning a very special musical event,
Show of Hope (September 23rd, 2011) with my best friend, Chelsea Hertzog, as well as the IDF Patient Education Meeting
(April 9th, 2011), 4th of July events, many blood drives,  and our Annual Promise of Hope Wine
Tasting Event (October 15th, 2011)…AND co-chairing an ‘anti-recall campaign’ in our town….all
while bouncing in and out of hospitals as my Mitochondrial Disease sporadically rears its ugly
head.

I am still learning my limits (through trial and error), and I am also learning to listen to those
who care about me. I try really hard not to get defensive when they look out for me and tell me
I’m doing too much – but it’s so hard to hear that I ‘can’t’ or ‘shouldn’t’ do something.  I love my
friends and family dearly, and, without them, I don’t know what I’d do!

People ask me why I do what I do.
People sometimes don’t understand me.
People wonder where in the world I get my ‘drive’ to do everything I do.

The answer is very simple. I do these things because I believe we all deserve a cure. I do these
things because – despite where the journey leads for us (even though they’re pretty certain
whereit has led us) – I have met some truly incredible and inspirational people who fight these
diseases (Mitochondrial Disease and Primary Immunodeficiency Disease). I do it because I am
passionate about it. I do it because my heart is in it 110%. I do it because it’s not about me or
Sasha; it’s far bigger than that. I do it because someone has to. I do it because I can and want
to! I do it because Will and Sasha need to see that life may be difficult, but – despite our health
issues – we can do good and we can make a difference!

Truly, I do it because – at the end of the day, when all is said and done, when I can’t make
my children better, when one is crying in pain or unable to play because she’s too tired or
she feels too crummy, when he’s miserable and feeling sick, when nothing seems right – I
can look at all the good there is in people and all the good I can accomplish and
I can lay my head on my pillow and know that I have made a difference
.

We’ve said this from the beginning, and I’ll say it again: if the doctors today told us that we
were on the wrong path, that none of us had Mitochondrial Disease or Mitochondrial
Dysfunction or any of the other things we’ve been dealing with, I would still continue to
fight for the same causes I’ve been fighting for over the past 4 1/2 years. There are just
too many amazing and incredible people worth fighting for to stop now!

Some of you still might not ‘get’ me, and that’s okay.
I don’t do this for recognition, acceptance, or understanding; I do this because I CAN.

These past few years have given me so much joy and a lot of heartache – but through it all,
I have remained focused on what matters most to me – my family, my friends, and my faith.

I look back with a sense of accomplishment as I reflect on all that’s been.
We are so far from where we were then, and while we have so far yet to go, I look to what
lies ahead with hope, joy, and sweet anticipation.

In 2007, when I first started with all of this, I kept reminding myself and others of this:
“It only takes ONE person to change ONE life… BE THE ONE!”

That statement couldn’t be more true, and if any of you ever wondered what the
Power of One” can do, just look at me. I may only be ONE person,
but I am a determined, passionate, and driven person.

To me,this isn’t a ‘contest’ as so many out there make it out to be.  It doesn’t matter what
your ‘diagnosis’ is, if you have it worse or better than me, if my suffering is greater than
your suffering. It matters that we’re helping each other in this whole journey through
life and chronic illness together.

After all, isn’t that what it’s all about?

Comments on: "Me, Myself, and I" (1)

  1. I blog here too. About half the time I think my posts are too long… I am VERY interested in your story, your work and Mito- but I didn’t get thru this post. I think we are even local to each other so I am even more interested as my children have had some initial Mito testing… SIGH

    Happy for feedback in my direction. I know you are just getting started and think this could be several tabs & posts. All the best.

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