Sunday, September 14, 2014

Mitochondrial Disease Awareness Week -- Sharing his story.

This week is Mitochondrial Disease Awareness Week. For many of you who know our family or have followed my writings here on the blog, you are well aware of Mitochondrial Disease and the effect it has had on our family. We've been a living example of what Mitochondrial Disease is and what it can do.

At the very beginning of June I was given the opportunity to share our family's story, Wyatt's story, and our experience of parenting a child with a rare disease. I thought it might be fitting, in honor of Mitochondrial Disease Awareness Week, to share here what I wrote:

Dear _____________ and ________________:

I remember clearly the day that we found out that the baby I was carrying within me was a boy. I can remember looking to my husband and smiling, “We’re having a boy!” I said. I laid one hand on my belly while Bryan held my other hand and we walked through the hospital parking lot to our car following a prenatal ultrasound. We were both thrilled! I couldn’t wait to watch my children grow up together.

My pregnancy did not go as planned and our son would be delivered pre-term. Wyatt Daniel DeStephano was born on July 23, 2002. His name, Wyatt, was picked because of its meaning, “little warrior.” Our baby came into this world 14 weeks too soon and weighed only 2 pounds, but he was perfect. He was strong with a purpose. I was unable to focus on his delicate, frail body or translucent skin as much as others did. My eyes only saw my beautiful baby boy whom I couldn’t love any more. I was holding his tiny body and talking to him as his fused eye lids opened for the very first time. A moment that not many other parents will get to experience.

Months later Wyatt would go on to graduate from the Neonatal Intensive Care Unit. We were able to take him home, exactly 5 pounds of him. It was such a happy day! We did worry about his breathing as he struggled with both Apnea and Bradycardia. But he came home with a monitor, that he wore continuously, which loudly alerted us to his lack of breath or low heart rate. It helped to ease our fears and be together, at home, as a family. We were led to believe the worst was behind Wyatt, the worst was behind all of us. We could now be together to love and care for him just as we prayed for.

Looking back with the knowledge and experience we now have I can say there were signs that something more, or bigger, was happening within our son’s body. Though, at the time, the doctor’s could easily blame his extreme prematurity for much of what he experienced medically.

However, the fact is, they were wrong. We were wrong. The worst was not be behind us.

As Wyatt grew, his list of medical diagnoses grew right along with him. Test after test was performed to evaluate the function of multiple areas of his body. For years numerous physicians studied lab values and ordered additional tests, but Wyatt and his medical troubles never fit into any underlying diagnosis fully. That is, none that his highly trained physicians could find. We were left to treat his symptoms to the best of our ability, one by one. There was always doubt and fear that lingered as we didn’t know exactly what was happening inside of Wyatt. At times it felt much like there was a ticking time bomb within him, but we didn’t know how long until time would run out and his body would come crashing down, piece by piece. The weight of not knowing why this was happening to our child and what was causing it was heavy and overwhelming. 

With his doctor’s guidance, we traveled the country in search of answers for our child’s declining health. It wasn’t until we reached a physician many states away, who lent the majority of his time to research, that we would get a diagnosis that “fit” for our son. The results of both a muscle and skin biopsy told us that Wyatt had Mitochondrial Disease. His body was failing due to a lack of cellular energy.

Mitochondrial disease is a progressive, degenerative disease for which there is currently no cure. The only treatment available to us was questionable and inconsistent among the patient population. The treatment is merely a combination, a “cocktail”, of vitamins that have the potential to help some patients with Mitochondrial disease feel better. However, by the time Wyatt received his diagnosis, the diagnosis that we spent many years in search of, he was already in intestinal failure and would not regain use of his gastrointestinal tract again. This potential “treatment” requires a functioning intestinal system, which made it unusable for Wyatt. At the time of diagnosis Wyatt required 24 hour IV nutrition and medications. He had bags which extended from tubes within his belly to decompress his intestines and relieve the pain and pressure from a failing system. It wouldn’t be long before his body fought chronic and life threatening infections through his blood stream from bacteria that would trans-locate from the failing intestinal system inside him. Each of his organ systems took hit after hit. With each impact to his body he struggled to return to baseline, leaving his health declining with every stressor.

Wyatt was like any other boy despite the complexities and severity of his health. He loved amusement parks, roller coasters and the magic of Disney World. He was the “middle man” of two sisters who he loved dearly. He was involved in Cub scouts and had the opportunity to play little league baseball, which he fell in love with. Wyatt knew his body was failing him. He was aware that he was physically dying and was able to help us make his own end of life decisions.

Imagine, at only 10 years old, knowing you were going to die because the doctors could no longer help you; because they didn’t know how to help you anymore.

Wyatt wanted to be comfortable enough to enjoy the rest of his life, to do things that he loved with his sisters, family and friends. He didn't want to be in the hospital. We worked closely with his doctors to make him as comfortable as possible to give him the time he needed before he was ready to go.

As I sit here now, I am remembering fondly the time we found out that we were having a baby boy, when he was born and as he grew during his infancy. What I thought would be the scariest time in our life and that I was relieved to put behind us, is actually now memories that we cherish. During that time it was unknown to us that my husband and I would later have to bury our dear child, our baby boy. That we would have to talk to him about his death, explain to him what it may feel like, assuring him that we would love him forever and he would always be remembered. I had no idea what it would feel like, as a Mother, to watch helplessly as my son’s organs failed one by one.

Wyatt died on September 27, 2013 after fighting for as long as he could while he still desperately held on to hope for a cure in his lifetime. It was exactly eleven years after we brought our five pound baby boy home from the Neonatal Intensive Care Unit that we would watch him die in our home, surrounded by family and friends who loved him dearly.

Mitochondrial disease is the rare disease that took our son’s life. A disease that even the most astute and educated physicians know little, or even nothing, about. There needs to be more funding for research. There needs to be strides forward in educating and learning about these rare diseases that are shortening our children's lives. I want so badly to help another family avoid the devastation of watching their child die; the helplessness that comes with making your child comfortable from the pain of organ failure, knowing they will soon take their last breaths. The heart wrenching pain of watching their child’s siblings say goodbye as their brother’s heart stops beating. These children deserve so much better! They deserve to live happy and longer lives just as much as you and I.

I can’t express to you how frustrating and defeating it felt to not be able to help our child. To realize the physicians who we sought out and were known as the best in their field didn’t know how to further help our son. To make the heartbreaking end of life care decisions and, furthermore, funeral arrangements for our 11 year old boy. There are no words to accurately portray the deep, unrelenting pain that losing a child has left us with. I often stand over our son’s grave and remember his smile, his laugh, his sense of humor and kind heart. At the same time as I long to hear his voice, to hold him in my arms again or to kiss his cheek.

I’m writing you today to ask for your help. We need your help — children need your help! Simply providing more funding to the NIH for pediatric research, including funding for rare diseases, would be a start. There is much more that we need to know to work towards a cure for pediatric rare diseases, many of which are fatal. Our doctors are doing the best they can with existing information, but it’s simply not enough. We need to do better for our children and their families.

I share our family’s story with you today to make aware the impact that rare diseases can have on families. I’m asking that Congress also work with the NIH to implement the National Pediatric Research Network Act. Any additional structure and funding that could help research institutes collaborate would be a step in the right direction.

While a cure was not to be for Wyatt, I believe there could be further advancements in treatment and ultimately a cure, not only for Mitochondrial Diseases, but for many other rare diseases, as well. But without your support and funding to further pediatric rare disease research there will be other children whose lives will be drastically cut short, leaving behind families who will face the pain of losing their child. Please raise the profile of this issue through hearings, forums and in-district visits with researchers and families. We would like for you to hear our stories. By working closely together, we can chart a path forward to find cures for our children so they have the opportunity to have what we wish for them – long, happy and healthy lives.

If not you, then who? Who will be the one to make a change for these children and families affected by pediatric rare diseases? Who will be the one to provide funding for further research and resources for physicians? Who will take the step to give hope to the children who are fighting to live another week, another day or another hour with only the hope for a cure?

We need to help the families who are living with pediatric rare diseases. The children living with a rare disease, like Wyatt, are counting on you! They are counting on further research of these rare diseases so they too can live a long life, just like you and me.

We sincerely thank you for the opportunity to share our family's story —
Ashley and Bryan DeStephano
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Wednesday, September 10, 2014

We're still here.

It's been sometime since I've written here. For those who follow us on Instagram or even Facebook, you've had the chance to see a little more of what's been going on for our family this Summer through pictures and captions that we shared. It was a busy Summer -- we've been busy redefining our life as a family. It certainly takes time. But we're now back to early rising, after school sports practices and activities and nightly homework before an early bedtime. August came and went and we're staring down the month of September. Beginning a new school year and the current month has hit us quite hard -- as if I ran into a concrete wall.

A year ago our life looked drastically different. Our life felt drastically different. While heartbreaking in its ways, it felt much more complete. Whole. At that time we were unable to ever imagine or feel the way that we would in a few weeks time to now.

I've been reliving much of last year through memories everyday. It's hard not to. The dates on a calendar hold such significant emotions...especially right now, this month. While the decisions we were making for Wyatt were difficult a year ago, it feels even harder to relive it all through our memories: we now miss him so much more. Last September I was memorizing each moment -- each smile, laugh, moan and squeeze of his hand. Every day that he was still breathing. Every hair on his head, each wrinkle and crease of his skin and every fleck of color in his eyes. Now, this September, we miss every little thing about him, all those things I memorized and more. So deeply. 

Life keeps going and going and going. And we have learned to do much the same -- to just keep going. We've continued to celebrate and share Wyatt's life in various ways through the Summer months. Telling his story and sharing his life with our community has meant a great deal to each of us. Most recently, Maggie volunteered to share his story with the crowd during an event that we were a part of, "Stick it to Mito". It was not easy for her, but the speech she wrote and the way in which she spoke of her Brother was purposeful and with grace. I bet he was so proud of her. I know we are. Just as his friend, Emily, said as she introduced our family -- I'm sure he was smiling down on us all.

I have no doubt that I will continue to grieve the loss of my boy for the rest of my life. We grieve because we love and that love will never change. But I do feel there can be an amount of healing in the midst of grieving. It's much like a dance, a delicate balance or an intricate equation. Sometimes it doesn't make sense, but that's okay. It doesn't have to. Life keeps going and so have we: one day at a time we continue living our lives -- with him, for him and because of him.
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