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 that this 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.
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.
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.
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. And 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 mutations/deletions 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 know 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.
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.
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!
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!
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.
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 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.
April 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!!!
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, 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.
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.
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.
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.
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. I was also wrapping up the planning process for the UMDF Patient Education Meeting (Sept. 25th) with our Chapter Board Officers.
As for now, we'll be taking a break during the 'sick' season (that's usually the toughest on all of the mito/immune deficient folks) and we'll be ramping back up in early 2011 by planning a very special musical event, Show of Hope (September 23rd), as well as the IDF Patient Education Meeting (April 9th).
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 where it 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 child better, when she’s crying in pain or unable to play because she’s too tired or 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 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 3 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.
With the 3rd anniversary of Sasha's infusions already past and the 2nd anniversary of Will's infusions coming up, I look back with a sense of accomplishment. 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, it doesn't matter what your 'diagnosis' is. 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?