Show Your Hope!

Part of the Cure…

The sun shined through the tinted windows of my hotel room as I lay half awake mentally preparing myself for the day ahead. You see, this day wasn’t any other day – it was the first day of the United Mitochondrial Disease Foundation’s National Symposium.

The Symposium is a time in which Doctors, Researchers, Nurses, Parents, Patients, exhibitors converge for a whirlwind of sharing, learning, listening, giving and receiving. I’ve been to numerous other conferences before, and all of them were excellent, but there’s just something about the UMDF Symposium that is extra special. I don’t know if it’s because all the physicians and researchers mix and mingle with the patients the entire conference, if it’s because families get to connect with other families who ‘get it,’ or if, because there is such urgency in finding a cure for this merciless disease – everything is magnified…or maybe it’s a combination of all of the above – but it is hard to describe the bittersweet air that permeates every pore in our bodies.

While we all feel incredible HOPE from the amazing researchers and doctors who work tirelessly for a cure – deep down inside, we all share the same burden – The Unknown.
For Ralph and I, this conference had a whole new meaning as we now have 8 total in our family affected by this disease. We were there to learn, ask questions, and return home with as much information possible to not only help me and the children, but the rest of the family.

It was an incredible experience for Ralph and I as we were able to talk at length with 7 of the top Mito doctors and Researchers in the world about our family and about the kids.  Not only did we get some really incredible advice that we will be taking home and discussing with our medical team, BUT – a few of the doctors actually gave us their cards and said that they wanted to work with our family because we had such a unique and interesting family history (which is great, but as many of you know, you NEVER really want to be ‘unique’ and ‘interesting’).  News of Sasha having continued seizures on EEG despite medication alteration came just before we left for the Symposium, and – honestly, I think it couldn’t have come at a better time because one of the doctors we met with for 45 minutes is not only one of the top Mito experts, but he’s also a well known expert in seizure disorders.  Some of what he said was not ‘comforting’ – but we left our meeting with him feeling like we knew what we had to do and what we had to rule out.  He also was able to see one of her ‘episodes’ that I had videotaped a month ago and said that she clearly was having a seizure and showed us what to look for.  It was truly so wonderful to have the ear of one of the best (he’s out in Seattle, WA) to help us understand this new development.  I could go on and on about ALL the amazing people we had a chance to speak with – but it might take forever!!!

The really neat thing was that I was asked to speak at Harvard again (and of course, I said YES!) as well as to work with a leading researcher (who is right in our own backyard here in MA) on some really promising things.

Not only did we find immense benefit in our meetings with the doctors and the researchers, but the sessions were informative (often overwhelming) and really well presented.

One of the greatest things about Symposium is that you get to connect (in person) with some really incredible people who are living with Mitochondrial Disease as a facet in their lives.  Some of these people I have known for years, met a few times, or have only met online – but to see/meet them in person just is unexplainable.  These people are the most inspirational, motivational, and courageous people you will likely ever meet.  To be faced with a debilitating and unrelenting disease and to choose to be ‘Part of the Cure’ and FIGHT despite the odds that are against you….well, I just don’t think my words can give the amount of justice these people deserve for their fight, their dedication, their strength, and their HOPE.

We ended the night with a banquet to honor the best of the best.

The night started with the director of the National Institute of Health’s Undiagnosed Program giving a talk about what the program does, how it has evolved and ended with a presentation of case studies that offer HOPE to some of our families.

My Mito friend, Sharon, gave a moving speech at the banquet on the first evening talking about how we are “Warriors” – I was moved to tears because she couldn’t be more right.

What is even more special about our community is that, even while they all have their own struggles, they rally around families who are struggling, fighting, in crisis, or in need and they give their all to them.  They are truly a special group of people and I am blessed to know them all.

My ‘Mito Sister,’ Rachael Pipp received a leadership award for her dedication to the UMDF and fundraising for a cure and I couldn’t have been more proud.  I cried tears of joy because I couldn’t think of a more deserving woman to receive this honor.

2 other Mito Warriors were honored as well for their efforts and their leadership – it was wonderful to see a teenager make such a difference…and touching to see a woman who had been involved with the UMDF for years also receive recognition for all she has done for our community.

Researchers were presented with grants and awards….

And one special presentation was presented on behalf of the Higgins Family and the Ainsley Paige Higgins’ Dare to Hope Foundation in honor of their sweet daughter, Ainsley, who went to Heaven a month ago after battling bravely with Mitochondrial Disease.

I was even able to share a table with the Wilkinson Family.  I am so honored to know this family as they have continued to be an inspiration to me and my family.

I met Brittany Wilkinson and her family in 2009 at a Mito Symposium and was just so touched by her spirit and her heart.  My heart was sad to be at this symposium and have her not be physically present, but she was absolutely with us all in spirit.  I vow to let Brittany live on in the things that we do. I can only hope that my children are as driven, compassionate, and amazing as she was.

The night wrapped up and Ralph and I headed to bed. My mind was swirling from all the information, discussions, emotional moments and chaos of the day.  It didn’t take long for sleep to find me once my head hit the pillow…..
Day 2 of the Symposium started out with a whisper but grew to a loud roar as all the families converged again in the meeting areas ready for what promised to be another day of incredible meetings, lectures, and introductions.

  Ralph and I headed to the first 2 sessions of the day and they were both very good!  In between sessions we caught up with old friends, made new friends, and bumped into the Mito doc who first diagnosed me, Dr. Kendall. She is just the most amazing, compassionate and dedicated woman.  I am so lucky to have had her on the first step of my journey.  We shared a nice conversation about how neat Symposium was and then Ralph and I decided that, since the sessions were being recorded and I wasn’t feeling fantastic – that we’d start our almost 8 hour drive home.  Being away from home, the kids, my family, Beast….and hearing some tough news as we spoke with several doctors about Sasha in particular – it just made me want to be as close to them as possible.

I won’t lie – as amazing as this Symposium was, my heart is so very heavy as I look towards the road ahead.

There are so many Mito families I know right now who could not be at Symposium because they are too ill or are fighting for their lives…and, for my family and for theirs – I will continue to fight and be a voice.

The UMDF did an amazing job with organizing the Day on the Hill AND the Symposium and it all came together like a giant jigsaw puzzle.  I want to thank Chuck Mohan and his dedicated and hardworking staff for everything they do for our families.  Symposium can be hard on us, but it also brings us a sense of peace and HOPE….and it burrows deep into our souls.  For that, my gratitude is never ending.

As I sit here in the van writing this on our journey home, the reality of the unknown settles in hard and, no matter how hard I try to insulate myself, the reality is still there.  SO, instead of letting that reality define my life – I am going to redefine the reality and only allow it to be a whisper in my heart instead of a pounding hammer that crushes all of who I am.

If only…..

If only we could find a cure…..

If only we could ease the suffering…

If only we could give peace…

If only we could stop the pain…

If only we could release expectations…

If only we could embrace faith….

If only we could revive HOPE…

If only we could destroy grief….

If only….

Well I promise you this – until my final breath, I will fight for ‘If only…’ to become a reality.

Love and Light,

Stefani

Making a Difference

5:45 a.m. comes way too early, especially when you were up way too late the night before spending time with some pretty darn amazing individuals.  Ralph and I rolled out of bed like zombies fumbling for our clothes and stumbling to the shower – the BIG DAY was here.  Despite our horrible smelling – sweltering and steamy – cold water with no water pressure – hotel room at the Hilton in Gaithersburg – and the fact that they didn’t have the ‘cash’ to refund us our deposit as we checked out (that they seemed unphased by) – we were excited to break the day open like a much anticipated Christmas present on Christmas morning.  We set out for our half hour trek to the other hotel where our our day was slated to begin.

We arrived at the Marriott in Bethesda in time for breakfast, but had a little snafu with my power chair breaking (but just a bit). After about 20 minutes of Ralph tinkering with it (and saying a few choice words), we were back in business and ready to head to the meeting location. Despite a relatively minor bus glitch, our trek through the scenic roadways was just what we needed to wake up, enjoy the beauty of the day and energize each other for what promised to be a long but rewarding day…

You see…today wasn’t just ANY day…today was a day when nearly 300 people descended upon Capitol Hill in Washington, D.C. and spoke to legislators in one unified voice…and it was heard loud and clear!

Today…we made a difference.

Today…we were “Part of the Cure.”

Senator Barbara Boxer from California introduced Senate Resolution 490 (S. Res. 490) on Monday evening, and Representatives Eshoo from California and Tim Murphy from Pennsylvania launched a Congressional Caucus on Mitochondrial Disease.

Our main goal was not only to ask for support from both the Senate side and the House side, but to also raise awareness about Mitochondrial Disease and broaden their understanding about what day to day life is like for patients not only in their local communities but the nation overall.

Ralph and I were the only 2 representing Massachusetts, but – after having 3 successful meetings for the Immune Deficiency Foundation in March, we knew that what we were asking at these meetings would be well received.  Our legislators have always been very gracious and very supportive of our endeavors and we continue to be incredibly grateful for this.

Senator Brown’s aide, Laura

All 3 of our meetings turned out very positive with the aides feeling that our ‘ask‘ was reasonable – all we needed to do was wait to hear whether or not the legislators would sign on.

Senator Kerry’s Aide, Sasha (yes, an easy name to remember!)

We had a Canadian visitor, Carolyn, join us for our last meeting and I think it was pretty neat for her to even be able to share how Mito has affected her.

We even managed to sneak a little ‘race time’ in between meetings to lighten the mood up a bit!  (Hey…us Mito gals need to have fun too!)

We took a nice ride back to the hotel and check into a MUCH nicer, cleaner, more friendly hotel at the Marriott in Bethesda and then made our way down to the wrap up meeting.

Chuck took a moment to share a few inspirational words – as he always does – and they are always so motivating!

And then Cliff (the man who orchestrated and ran our successful day on the Hill) got up, thanked his fellow staff members for their efforts and encouraged us to continue our work on Facebook, Twitter, Blogs, and in our home states….which *I* fully intend to do once we’re back in MA *AND* once the “Action Alert” links are available (next week…so be on the lookout!).

After our meeting, I got to hang out with some pretty incredible people like the Wilkinson Family.  In 2009, Brittany Wilkinson initiated legislative efforts and legislation was named after her – sadly, she lost her battle with Mitochondrial Disease far too young…but her inspirational legacy lives on even in this Senate Resolution, which I think is pretty awesome.

I even got to sneak in a little bit of time with my far away ‘Mito Sister’ Rachael….

Ralph and I are now up in our hotel room on the 9th floor enjoying a beautiful view – unwinding and relaxing and appreciating the opportunity and honor that we have been blessed with  to be here and represent all who are affected by this disease.

Tomorrow starts a new day – and we are looking forward to sleeping in past 5:45 a.m. AND attending the first day of the United Mitochondrial Disease Foundation’s National Symposium.  It promises to be an incredible experience as it was when I attended in 2009.

I would be remiss if I did not send a HUGE shout out and THANK YOU to my mom, dad, Aunt Louise, niece Brittany and friends Sherrijean and Tracy for stepping up and helping out so Ralph and I would be able to take this trip.  We cannot even begin to express our gratitude.   It was a decision we went back and forth over as it is always hard to leave our munchkins – but we realized that we had a responsibility, not only to our family, but to those who could not make the trip out – we needed to go and be a voice on the Hill.  We also knew that the information at the conference would be valuable and we would be able to take home the things we learned and hopefully utilize this information to help our family and others.

Off to dreamland……

Love and Light,

Stefani

9 Years

9 Years ago this past Monday, life changed for Ralph and I forever.  We welcomed one of the biggest blessings into our lives in the wee hours of the morning of June 11th, 2003.

I could go on and on about all the trials and tribulations our sweet and amazing boy has endured (and actually did in the post I wrote out last night), but instead – I decided I would celebrate the BIG things…

He’s overcome developmental regressions, countless illnesses, physical challenges, and has dodged almost everything but the kitchen sink.

But that’s not what so amazing about Will….

What so amazing about Will is his contagious smile….

His incredible spirit…

His compassion…

His joy…

His laughter…

His positive attitude…

His kindness…

His determination…

His perseverance…

His innocence…

I can’t even begin to list all the ways in which he has changed me and made me a better human being and mother.  While my heart will always be heavy because he has had to deal with more than any child should, he has managed to embrace his light rather than cast it aside.

I look back over the first 2 years of his life and I regret not cherishing the special moments more, but I am eternally grateful for the fact that God gave me the most wonderful son to teach me how to release my expectations and learn to not only cherish the special moments, but to hold steadfast to even the most mundane ones.  It was then – and only then – that I was able to witness the true beauty that was right in front of me.

Expectations are a funny thing…they’re great things to hang your hat on in theory, but in practice…they fail miserably when compared to what reality can hold if you are able to release what you hold so tightly to.

Will is my hero, he is my light, he is my joy, he is my strength and he is my HOPE.  I am blessed beyond measure and count every day as a miracle and a gift because of what he’s taught me in life.  I have found the peace within the storm and the beauty that comes with learning to dance in the rain.  Will taught me that. I thank GOD for Will – God knew that I needed Will.

It’s funny how our children end up really being our teachers.  Humbling, actually.

So here’s to Will…

I love this boy with all my heart and soul and I can’t wait for my ‘teacher’ to show me how to continue to grow as a mother and as a human being.

Happy Birthday my sweet, sweet sunshine!

I love you to the moon and back……

**** Stay tuned for another blog in the next 24 hours as Ralph and I are in Washington, D.C.

We are heading to Capitol Hill for the United Mitochondrial Disease Foundation’s legislative efforts (UDMF) and then will be attending the UMDF’s National Symposium.