13

 Griffin is a teenager. 

Lately, I have been feeling the weight of the grief that all parents must experience, but we never really acknowledge or talk about much, beyond annoying exhausted new parents with comments like "enjoy every minute, it goes by so fast."

The little boys I used to have are gone, never to return. They don't exist anymore. I would pay good money to go back in time, for just an hour, to spend some time with them as babies. To play with them when they were toddlers. To bask in their babyhoods for just a little while. It seems silly to grieve the loss of all those previous versions of my children. But each night when they go to bed, they wake up the next day a little bit different. A little bit further from who they used to be. I miss them, those hundreds of boys who came before the ones I have right now.

Like any parent, I moon over pictures of my children when they were little. I show them to them and say things like "awww, look at you!" For a while now, Griffin has been telling me he doesn't want to look at pictures of himself when he was younger. He says that he was never cute, and never little. I assumed at first that he just didn't want to be thought of as a little kid anymore. But recently I finally asked him why, and he said that it is because he used to be normal. He used to be thin, like his brother. He used to look like all the other kids, and be able to do all the same things other kids his age could do. He doesn't want to be reminded that things have changed since those (adorable, smoochable, squishable) happy go lucky days.

It's no wonder that we tend to think of 13 as an unlucky number. 13 is hard. It's a hard age to be. The glowing softness of your childhood is beginning to crack, opening up to the hard edges that come with adulthood. Adolescence brings with it strange new feelings to navigate, new social pressures that are confusing and yet feel like the most important thing at the same time. Standing out feels dangerous and lonely. Only the brave continue to confidently be who they have always been. And often, they pay for it.

When you are 13 and slowly losing your ability to walk while all your peers are getting stronger, the fear of being so obviously different seems worse than the loss of ambulation itself. When you are taking a medication that is keeping you from growing, when everyone around you is going through the biggest growth spurt of their lives, rivaled in speed only by the rate that newborn babies grow, but you stay the same, you have been the same height for two years and counting, it feels like there could be no misfortune in life any worse. When this same medication is not only stunting your growth but keeping you overweight and making your face puffy, it hardly seems worth it. Stop taking it, though, and you risk hastening your physical decline. Better keep taking it.

The future looms cold and cruel. How could an overweight, puffy, short person who can't walk ever have any fun or do anything good in life? Who would ever want to devote themselves to such a person? It doesn't occur to you, at 13, that being funny, thoughtful, creative and courageous, with luminous eyes like dark, deep pools, could count for anything. On top of that, you are 13, and feel all of the things the other poor 13-year-old souls are feeling. The responsibility of adulthood feels like an elephant sitting on your chest. Global warming. War. Social unrest. Pandemics. Paying bills. It's all too much.

That is where we find our boy today, as he turns 13. It has always seemed like an especially cruel twist that Duchenne has its victims losing ambulation at this tender and tumultuous age. I know he will come through it, that the darkness will lift. He will adjust to this complicated new world he must move through on his way to adulthood. The happy, tenacious child with an unquenchable zest for life remains. The boy who at age 8, when asked if he felt scared, said "I'm never afraid of fun," is still in there.

Like all of us, once the shadows of adolescence lift, he will come back to himself. He will be confident again to be who he is, to accept and work with his limitations as he has always so naturally done.

And for us, his parents, all we can do is stay present and available, like the shoreline in the distance he can always make out, even in the thickest fog. Ready with a port in all the storms that lie ahead. There for him to anchor to when he feels unmoored. There to rejoice in the bright, sunny days that occasionally break through the gloom, to welcome him when he returns to dry land and is ready again to climb his mountains.

Here's to 13.

Broken Hearts

A fellow Duchenne parent who lost his own son to this condition far too young made the comment that watching your child navigate the many losses that happen over time (the loss of a normal childhood, the loss of an expected healthy adult life, the loss of ambulation, the loss of unaided breathing, the loss of the use of his arms, the loss of the ability to eat normally) are like many rehearsals of grief, lots of little heartbreaks preparing you for the inevitable Big Loss at the end.

So far, we have not experienced too many of these. The losses are less tangible. For example, my heart broke a little this January, when we took a boat out to experience the phosphorescent bay in Puerto Rico. It was an amazing experience and Griffin loved it. The reason my heart broke was because there were other boys about his age on one of the boats, and they jumped huge elated jumps into the water, over and over, leaping back up onto the deck in one smooth movement to jump back in again, shrieking with joy as the water lit up around them. I sat watching them, thinking THIS is what being a ten year old boy is. THIS is what my son should be doing. Ten year old boys swing on rope swings and jump into lakes, they ride bikes all over the neighborhood in the summer, they run around in the woods, they play sports. They play hard. It's not fair that my son has to miss out on this part of childhood. A friend of mine with two boys with Duchenne around Griffin's age recently shared how hard spring is for her family. All of her sons' friends are out gearing up for spring sports, breaking out the bicycles that have been trapped in the garage all winter, and just generally running around outside all day, as all kids do in the spring. Childhood as it is meant to be, the kind we are all nostalgic for as adults. Our boys don't get to have that. It seems insignificant in the face of all of the difficulties ahead, but in some ways, this is the hardest part, the missing out on life.

Griffin's childhood has contained a lot of normalcy so far, and I am so grateful for that. But he is ten, and at an age when our uninvited genetic guest begins to start taking a bit more from him as the months pass. It's still easy to forget some days that this is a serious condition. Our usual focus is on how it impacts his daily life now, and so far it is mostly just something that keeps him in the dugout keeping score instead of batting and running the bases during baseball season (note: I wrote this sentence at the start of baseball season. For the past 3 years, he has played T-ball and "machine pitch," which is our local league's option for those who need to graduate from T-ball but are not quite ready for "real" baseball. This year, he moved on to the minors team. At the time I wrote this, we were preparing him to learn to keep score so that he could practice with the team, but sit out the games. He went along with this plan, but as the season started he decided he wanted to play, and so he did. He never hit the ball, but he was one of the team just like everyone else and he was accepted and treated as such. He went up to bat, he hustled to the base when he was walked, and fielded the ball when it came to him, and despite my fears, I don't remember a time when it felt like anyone was making fun of him or treating him like he wasn't an equal member of the team). However, almost daily my Facebook feed contains at least one announcement of the passing of a child with Duchenne. Today (literally, I mean today, this happened today to a family) it is a fourteen year old. Sometimes it is a 23 year old, a 31 year old, a seventeen year old, a twelve year old.

A ten year old.

All of these boys and men were people with lives, hopes and dreams, with loving parents, siblings, grandparents, and friends whose hearts are forever broken. There is no way to predict when it will be our turn, or when it will be one of his buddies, one of the families we have come to know and love. And I can't begin to imagine how I will cope. It sucks. So I try not to think about it. It's not denial, it's just how I get through the day.

Recently, he had an echocardiogram that showed that Duchenne is starting to take its toll on his most important muscle, his heart. His heart is still functioning in the low normal range, but it has decreased a fair amount since his last scan. This isn't unexpected, but still hard to process as a parent when it actually happens. As parents, we always hope our child will be the exception. He started a new medication for his heart as a result of this information, and all we can do now is hope that it has remained stable when we check it again in six months.

The day after Griffin had his echo, I had a cardiac MRI. This is becoming standard of care for carrier mothers, since often the signs of cardiomyopathy don't show up on the echocardiograms of carriers until long after they start. Outcomes are better when an MRI is done to check for scarring before there are symptoms. "Outcomes are better." Code for "it takes longer to kill you." My MRI did in fact show a small area of scarring. My cardiologist reviewed the notes from the MRI and did an echocardiogram. He could see that the part of my heart where the scarring was detected is not pumping the way the rest of my heart is. He showed it to me. I could see it. I watched on the screen as most of my heart pumped merrily along, but there was one spot that didn't move. Kinda creepy. I'll be starting a heart med soon too.

Lest you start to think we are just moping about over here, feeling sorry for ourselves and our broken hearts, I can assure you this is not the case. Griffin wouldn't have it. We literally drove out of the hospital parking lot the day of these less than awesome cardiac appointments and went straight to an adaptive ski weekend. Sometimes at bedtime, he is struck with the need to ask questions or air concerns he has about his condition. A few weeks ago, during a whispered conversation in the dark of his bedroom with Brian about how he wishes he could do some of the physical activities he sees his friends doing, because it looks so fun, Brian said something to the effect of "it must be hard not to feel sad that you can't." Apparently taken aback by this suggestion, Griffin responded loudly "No! I never feel sorry for myself. I don't feel sorry for myself AT ALL!" And if he doesn't, how can we?

Today, Griffin is completing the screening process for a new clinical trial. This time, it is phase 3, which means the drug has already been shown to be effective, and the company is now doing a larger trial to prove this efficacy and fine tune the dosing before attempting to have it approved by the FDA and made commercially available. It isn't a cure, but it will help, and possibly eventually be an alternative to the side-effect-laden steroids that are our only course of treatment currently.

After Griffin's last clinic visit in February, we decided as a family to see what we could do to help slow or stop the steroid-induced weight gain Griffin has experienced. Getting a handle on this side effect now is important, since as his body slows down and he burns fewer calories, it is going to get harder and harder for us to keep him at a healthy weight. It's also a vicious compounding cycle...the heavier he gets, the harder it is for his muscles to move his body, and the more he slows down. We found out that sugar can cause insulin spikes in people on long term steroids, which causes weight gain. We decided to try cutting out processed and added sugars from our diet, which would be good for all of us. I was a bit skeptical it would make a difference. After a few weeks it looked like he might be a bit slimmer. We noticed his shirts seemed to fit looser. I still thought maybe just wishful thinking on our part. He tried on some snow pants we had stored away because he couldn't zip them anymore. They zipped. He also seems to have more energy, and he is moving faster and more smoothly. A few weeks ago, at his first visit for the clinical trial he is finishing screening for today, I tried to look nonchalant as I peeked over the nurse's shoulder while he stood on the scale. I whipped out my phone and quickly converted the kilograms that popped up on the screen into pounds. He has lost almost 8 pounds! This may not seem like a big deal, but I am elated that we have found a way to keep this most challenging side effect at bay. And as it turns out, avoiding sugar isn't as much of a sacrifice as I had expected, and not so hard to do with a little research, label reading and planning.

Now it is summer, which for Griffin means "swimming season." For children with Duchenne, the water can be a great equalizer. While it slows the rest of us down, the support and buoyancy the water gives him makes it easier for him to move. He spends days at a time in the water, flipping, somersaulting, doing handstands and all of the other things he can't do on dry land. The superpower he covets most is the ability to breathe underwater, because then, he says, he could just live in it. Instead of focusing on what he can't do, he just commits himself entirely to the things that he CAN do and continues to surprise us regularly. We have told him that we will help him find a way to do anything he wants to do, even if it is in an adapted way or a different way. And he is keeping us to our word. Below is a memorable moment from last "swimming season" when we found some friends willing to help us help him "do anything he wants." Who said kids with Duchenne can't wake surf?

Changes

It's fall here in New England, and the leaves are just beginning to change. It's still hot and sunny outside most afternoons, but the evenings are turning cool, and the mornings are misty and dark and there is the temptation to stay in our cozy beds just a little longer. School has begun and fall has arrived. These early stages of transition seem to echo the experiences our family has had over the past couple of months. Things are still pretty much the same, but changes are coming.

It was fall when Griffin was diagnosed five years ago, just after Thanksgiving in 2013. My family was still reeling from the loss of my cousin, Jenn, who had just passed away from cancer at the way-too-young age of 38. I will not tell that story here, since it isn't mine to tell, but the two events are tied together in my mind. I can't think of one without thinking of the other. I brought baby Ronan and 4-year-old Griffin with me to her celebration of life. This picture of Griffin was taken there. At the time, we were in the midst of doctor appointments and tests to find out why he still couldn't jump with both feet off the ground, alternate his feet on stairs or run. I remember watching him walk around the field that day and noticing the little waddle he had. I remember that he went into the bouncy house and was bounced around by the other kids jumping and couldn't stand up. In a few weeks, he would have an MRI and bloodwork. The MRI would reveal nothing out of the ordinary. The bloodwork would reveal everything. I expected that whatever was causing his mild symptoms wouldn't be too serious. There had been some small complications during his birth, perhaps he had a very mild form of Cerebral Palsy. It never even occurred to me it could be something progressive, and of course it had never crossed my mind that it could be fatal. Deep down, though, I think I knew. I remember that I had a feeling of foreboding that fall, and had assumed it was just part of the shock and sadness I was feeling about Jenn. It was a nagging feeling though, an unsettling one. After his MRI, I remember feeling strangely emotional, some part of me aware that we were about to get bad news. His MRI was in the morning, and that afternoon, the developmental pediatrician called to say that his MRI was normal, but that his bloodwork indicated some form of muscular dystrophy. "Don't google it" was her advice. I googled it, the world crashing down around me piece by piece with each word I read.

In the spring of 2016 (spring, the opposite of fall, a time for new beginnings, new hope and new life) Griffin began a clinical trial. The drug in the trial was a myostatin inhibitor. Myostatin is the enzyme that stops muscles from growing indefinitely (without it, we would all be like The Hulk). By inhibiting it and taking the brake off of muscle regeneration, it was hoped that the boys in the trial would be able to regenerate muscle more quickly and as a result gain strength and slow the progression of the muscular dystrophy. The trial was designed so that 1/3 of participants would receive an escalating dose of the trial drug for two years, 1/3 would receive placebo the first year and drug the second, and 1/3 would receive drug the first year, and placebo the second. For the first few months, we weren't so sure anything was happening. But at about month 3, we noticed little things. We went on a walk down a trail near our house against my better judgement. I wasn't sure Griff could make it the whole way, and I didn't relish the idea of having to carry him back if he couldn't do it. But he insisted, and I actually had to hustle a little to keep up with him. It was the first time I could remember having to try to keep up with him. Hmmm. By month 4, we were sure. He began alternating his feet going up stairs (rather than taking the steps one at a time, like a toddler does) and his run started to look almost like the run of a healthy child, just a bit slower. He had more energy, he seemed to move through the world with more ease. During the second year of the trial, he slowly settled back into his former ways, and in the last few months he was slowing down noticeably. He was having more difficulty with stairs, we didn't see him running much anymore. So we assumed he was on placebo for the second half of the trial, and hoped against hope that when he started the extension study (the extended part of the trial in which all participants are on the drug with no chance of placebo), we would see a little of a rebound back to the gains we saw during the first year. 

About four months into the extension study, we noticed little things again. A little more energy, a little more spring in his step. Some of the difficulty he was having with stairs seemed to ease up. He didn't have a dramatic return to where he was at the end of the first year as we hoped, but it seemed to be moving in the right direction again. We went to his fourth monthly trial visit to Pittsburgh in August feeling optimistic, and Griffin breezed through "the pokes" without a single complaint. I think it was our easiest visit. I hoped that this dose would be the one that reminded his body what it could do on the drug.

A week after his fourth open label dose, and mere days after I watched him go up the stairs to our house with less effort than usual, we found out that Pfizer, the company sponsoring the clinical trial, had decided to end the trial effective immediately. Ironically, they had analyzed the data and it turned out that there was no significant difference in the time it took the placebo group and the drug treated group to ascend four stairs. This was their primary endpoint. The data did not support continuing the trial, as it showed no difference from placebo on the timed four stair climb. I will suggest here that timed tests may not be the best trial design for drugs for Duchenne. Our trial coordinator noted that while the time to go up the stairs may not have changed, the way the boys approached the stairs did (using the railing less, alternating feet, not pushing a hand off of their legs). But the only thing that counted toward the end point was time. In any case, the results were not overwhelmingly positive, and Pfizer is a business after all. Why continue to invest in a drug that will never make it through the FDA approval process? 

I knew from talking to other parents that some boys didn't seem to be responding much to the drug, and either stayed the same or declined a little during both years of the trial. But I also knew from talking to other parents that many boys improved, some significantly. I also knew that my own son had most certainly shown improvement during the first year. However, Griffin and the other boys who improved were apparent anomalies. Even though I knew this could happen, it came as a total shock. We had been talking about the possibility of taking him out of the Pfizer trial to try and get him into a different trial that could potentially address the underlying issue of lack of dystrophin, rather than just treating the symptoms. There is a "wash out" period of 3-6 months for boys who want to change trials, so we were trying to decide when the right time might be start the wash out and be ready when the trial we had our eye on started recruiting. A gamble, since we actually have no idea when it will start recruiting, and there was a chance he could decline during the wash out to the point where he wouldn't qualify for the next trial, AND we heard there were wait lists hundreds of boys long for some of these trials. This is a good thing, it means these newer drug trials are looking good and everyone is hopeful this will finally bring a real, life-changing treatment that would turn Duchenne into a manageable chronic condition, rather than a terminal disorder. In any case, the sudden cessation of the trial made the decision about when to start "washing out" for us.

The funny thing is, despite the fact that we were already considering taking him off at some point, the news was devastating. It was reminiscent of when he was first diagnosed, which is perhaps why I am finding myself beginning this blog post with memories. Fall is a time of change, but also a time of reflection and remembrance.

We had no idea when we went for his August trial visit that it would be our last. The routine of going to Pittsburgh every month gave me a certain level of comfort. I knew that we were doing absolutely everything we possibly could for him, and this was enough for me to feel at peace with whatever was coming, and hopeful that it wouldn't be as bad as I imagined. Having the psychological safety net the trial visits were providing suddenly torn away, I found that, in fact, I was still in free fall and always had been, but the net had given me a sense of security. Now, I feel a little like I am aware again of the bottomless pit below me, and I am grasping at thin air, hoping to find something to grab onto.

In addition to the heartbreak about the trial cancelation, Griffin has been recovering from an ileotibial band injury over the summer, followed quickly by a foot injury on the second day of school. This means he has been using his wheelchair more. Even though he isn't using the wheelchair more because he is weaker, seeing him in it more and having to lug it around everywhere feels like an unwelcome taste of changes to come. 

I have written before about the silver linings of having this in our lives, and none of that has gone away. We appreciate little things more. We say "yes" to more experiences and have more fun than we would have. We have had the gift of experiencing what it is like to have infinitely supportive family and friends. When he was first diagnosed, I spent a lot of time worrying about what life would be like for Griffin now, at almost 10 years old. Would he be in a wheelchair full time? Would he have any cardiac or pulmonary symptoms? Would we have the means to make the adjustments necessary to make school, our house, the world, accessible for him? Would he have friends? Would he be bullied? Would he be unhappy? It turns out, none of those fears have been realized, and I wasted all that time worrying for no reason. I still have those same fears about the future, but I also know now that none of it is insurmountable. We can handle it, whatever "it" may be. Last week, he went on a hike with his school. It was a 4-mile hike and he walked a mile and a half of it on his own. Brian piggy-backed him for the rest of it. I have just the right partner in parenting this gift of a child. Brian would do anything for him. At this point, Griffin weighs half of what Brian weighs, and yet he carried him through the woods with a smile on his face and without complaint.

Worrying doesn't change anything, it won't make any difference in his future if I spend all my time worrying versus just trying to make the most of each day. I try to remember that now, during this time of transition when my fears about the future begin to overtake me. Treatments and even potential cures for Duchenne are happening at a rapid pace, and the outlook seems to change (in roller coaster fashion) almost daily. One trial gets canceled while another reports astoundingly positive preliminary results. Things change for Griffin, but he always adjusts quickly and is impressively resilient. By now, his summer injuries have healed, and he is back to his normal speed and gait. Naturally, I worried (unnecessarily again, it seems) that the summer injuries would be the beginning of the end of walking for him. They weren't, and he is his usual happy, optimistic self. He does worry too, and he has wondered out loud if the end of the trial will mean he will get worse. But he doesn't let any of it get him down for long. He is here to live life to the fullest no matter what, and shows no sign of letting anything get in his way. The truth is, we have no idea what is next, and Griffin has surprised me too many times for me to think that I can make any assumptions. 

Days Without Sparkle

Note: I wrote the following post last spring, and never published it. Maybe it felt too personal at the time. I am hesitant to post it today (November 3rd, 2016) also, because this is not how I feel right now. Griffin is now 7 months into his clinical trial, and in the past few weeks he has been skipping and hopping around the house, testing out his new skills. If anything, I feel more hopeful than ever. While there are still days like the one I describe below, the struggle is more subtle now. I have a recurring dream in which I am driving with my kids in the car, and suddenly I can't move. My foot is stuck on the gas, and our speed is increasing. I see a turn coming up ahead of us, and can barely keep the car on the road as we speed around it. The road curves again, and I know we are about to meet our end in a fiery crash. Usually at this point I wake up, or the dream changes. My worries are reserved for anxiety dreams that I shake off when I wake up. I can't share too many details about the trial, but as Griffin puts it "the pokes are helping." I think feeling like we really are doing everything we can possibly do for him helps me to continue to make peace with this uninvited guest in our lives. It is what it is, and all we can do is our best. And we are. And so is he.

March, 2016
I feel like most of my posts end on at least a semi-happy note, about the importance of living in the present, or being hopeful about the future, and that time and medical research will result in a new future for Griffin. And I do try to live my life in a grateful, hopeful place. Since Griffin's diagnosis, life has taken on a glittery sheen, and the beautiful parts seem sweeter and shinier.

But there are days. Like today. Today the sucky reality of Duchenne has settled like a wet wool blanket on a hot and humid day. A few days ago, Griffin slipped on some wet leaves in the woods and fell hard. He landed on a rock, which ripped through his favorite pants and gave him a nasty gash on his bottom. He needed me to come into the woods and help him stand up and then half-carry him to the house. It wasn't because he couldn't stand up and walk on his own, it was because he was in pain and was scared of slipping again. It was a reminder of what is to come, and my heart ached as I wiped away his tears, cleaned up the cut and told him we would patch up his pants. I was painfully aware that at some point soon, he will fall because his legs collapse under him, and he won't be able to catch himself. He will land hard. Over and over again, day after day. Until he gives up and stays in his so far non-existent but very real future wheel chair.

Yesterday I saw that a 39 year old man passed away from Duchenne. This probably sounds crazy, but sometimes stories of men, actual adult men, in their 30's or 40's with this disorder, even if the story is about their death, give me hope that Griffin will live to be a full grown man too. But this time, I saw that this man was exactly the same age as Brian is now. They were born in the same month on the same year. I knew this difficult fact already, but for some reason it struck me more cruelly and coldly than usual that Griffin will probably never be the age Brian is now. I think about how fast time goes, how Brian's mom probably remembers the day he was born like it was yesterday, and how 39 will come for Griffin just as quickly as it did for Brian. And I will still remember the day he was born like it was yesterday.

Griffin is 7, and almost like clockwork, it seems that his glorious honeymoon stage is coming to an end. I'm not sure he is declining yet, but he isn't gaining anymore. He isn't getting faster or stronger anymore. He starts a clinical trial next month, and while we are beyond hopeful that it will slow the disease down, it isn't a cure. It won't change his future. It may keep him walking a few years longer, but it won't do anything to help prevent the currently inevitable heart failure that will eventually take his life. This doesn't mean there won't be a cure, that there won't be anything to prevent the cardiomyopathy in his lifetime (before it is too late), but the truth is that right now there is no cure. Right now, there is nothing to stop his heart from eventually failing.

When Griffin was diagnosed, I had to come to terms with the fact that he wasn't mine to keep. I love Griffin and Ronan equally, but it is almost like Griffin is already part angel, just here to stay with us for a while. His mind is in the clouds, day-dreaming up time machines and imaginary worlds. Ronan is more present, more grounded and connected with the world around him than Griffin is. I have always thought of them as my yin and yang boys. Griffin loves water and roller coasters. He is loud, outgoing and friendly. He never had separation anxiety, even as a baby. He has never been particularly affectionate. He doesn't like to do anything if it wasn't his idea. He doesn't always consider other people's feelings before he speaks or acts. He has muscular dystrophy. Ronan wouldn't go in the water above his ankles until this past summer. He eyes roller coasters with a mixture of fear and suspicion, as if he can't understand why anyone would ever do such a thing voluntarily. He is helpful and agreeable to the suggestions of others. He is quiet and observant. He immediately (almost eerily, for such a young child) clues into how other people are feeling. He likes to know where his parents are at all times. He is cuddly and affectionate. He is agile and as strong as an ox. I can't help but feel sometimes that Ronan was a gift to us, at 3 years old already such an empathetic and helpful person.

Sometimes, I feel almost OK with Duchenne in our lives. I know it is part of who Griffin is, and I wouldn't trade him for anything, and I am grateful for the life lessons and perspective it has brought me. And sometimes, I feel like a caged animal, rattling the bars, roaring at the world, desperate to escape Duchenne, and to free Griffin and our family from it. I see what is happening to older boys and men, to their families, and I think that can't possibly be our story. That can't be what is coming for him, or for us. I don't want to have to give Griffin back. I don't want him to have to use his gifts of courage, assertiveness and ability to transcend to help him navigate what will be a difficult and short life. I don't want Ronan to have to use his gifts of strength, helpfulness and empathy for such a painful purpose.

What I know about these difficult periods, when I find myself unable to find hope, is that I usually come out stronger on the other side. More determined to do everything I can to make each day count, and to do everything in my power to make Griffin's life as fulfilling and as healthy as possible. I will find my way back, and we will go on living our lives with a little extra sparkle, grateful for each good day and each beautiful moment. But today is not that kind of a day. Today I am in my cage. Today, there is no happy note.

Trials and Tribulations

We have just finished celebrating Griffin's 7th birthday. Every birthday since his diagnosis will be bittersweet; with each year, he is growing a little more mature, becoming more his own person. Like any parent, I feel pride as I watch him grow up. But in the back of my mind, I can't help but also think that each birthday marks the passing of another year, and we have one less year to spend with him. I think we are among a generation of Duchenne parents who can feel less certain about when the final birthday will come. Already, many with Duchenne are living a decade or more longer than their prognosis, as medical advances make it possible to breathe longer and keep hearts beating longer. Just since Griffin's diagnosis two years ago, the landscape has changed. Boys being diagnosed right now are immediately enrolled in clinical trials by their doctors, and told that there is hope and many promising treatments on the horizon. While as parents it can feel like trials are moving at a snail's pace and each day spent unable to do anything to stop the progression of the disease is agonizing, things are actually moving very quickly. But even with all this hope, there are still those who lose their lives as young as the tender age of ten, often due to early cardiomyopathy (for unknown reasons, some develop a fast-moving cardiomyopathy much earlier than typical). We live life expecting that Griffin will not be one of these boys because we have to in order to keep moving forward each day, but there is no way of knowing if he will be or not. That is the hard truth.

While we, his parents, grapple with an uncertain future, Griffin continues to be his happy, active self. So far, he has known nothing but improvement. He repeated Kindergarten this year, which has proved to be a very good decision. It has allowed him to catch up with fine motor skills, and move at his own, slow but steady pace. He is having a good year. This is partly because he is really ready to start tackling academics now, and partly because he has had more time for his social skills to mature. But it is also because he is physically stronger now than he was last year. Around the time he was diagnosed two years ago, he began the "honeymoon" stage of increasing strength that can happen with Duchenne. His body's natural growth and development has temporarily overtaken the progression of the disease. He also started corticosteroids last year, and we saw another bump in strength that has so far continued. But the honeymoon can't last forever, and the benefits of the steroids cannot keep pace with the course of the disease for more than a few years. Now, at age 7, he has reached the age where natural history data shows that all children with Duchenne begin to decline, if they haven't already. His 7th birthday is more bittersweet for me than the others have been. It marks the end of an era in which he learned to ride a bike, learned to swim, started running, alternating his feet on stairs, jumping and getting pretty close to being just a regular kid. Last year, I had to go in and talk to his class out of necessity; he was starting to get picked on. The other students didn't understand why he moved slower, why he couldn't keep up with them. This year, I went in around the same time in the fall to talk to the new Kindergarten class, and they hadn't even noticed yet that anything was different about him. I'm not sure how we will explain it to him when he notices the first signs that his muscles are beginning to get weaker instead of stronger.

A few days ago, a photographer from a local newspaper come to our house to take photos for a story the paper is doing on Brian's recent Everest to End Duchenne adventure. While snapping pictures of us outside sledding, he commented that we seemed like a very active family. "We are pretty active," I agreed. After a pause he asked if we felt like we have had to stop being as active as we would like because of Griffin's physical limitations. I told him that I actually think it is the opposite. I suppose it is true that we have had to re-imagine our ideas of what active means, substituting snow tubing for snowboarding, spending a day at the beach instead of hiking up a mountain, or going on a canoe trip on the river instead of surfing in the ocean. But we tend to embrace life more than we did before, and if we have an opportunity for an adventure, we tend to take it. Rarely to we say "nah, I don't feel like it today," because we don't know for how long these experiences will be possible. It can get exhausting, but it is also pretty fun. If Griffin says he wants to have some kind of active outdoor experience, we find a way to do it. I recently sorted through our entire iphoto collection looking for photos and videos to document Griffin's life as background footage for the Everest to End Duchenne documentary that is being created, and it struck me that we had years and years of photos and videos of us doing fun things, going cool places, and having interesting experiences. There are many days when I slip into feeling sorry for myself, but as I was looking through all those photos and videos, I could feel nothing but gratitude for all that is good in our lives.

We are in the process right now of screening for a clinical trial. He just "passed" the blood test to ensure that he meets some of the criteria for participating in the trial. We head off on Griffin's Make a Wish trip to Disney World in a couple weeks (yay, more fun!), and should find out soon after our return if we will be going ahead with "dosing" him. If this trial falls through for any number of complicated reasons, there are many others he qualifies for currently recruiting. Knowing that they are all trials, not treatments, and nothing is guaranteed, it can be somewhat agonizing to decide which to pursue. What if we choose the "wrong" one, the one that turns out not to work at all? What if we choose the one we think is best, and he ends up on the placebo? What if he has some kind of severe side effect? All of the trials involve putting him through a fair amount of poking and prodding, including bloodwork, muscle biopsies, MRIs, ongoing strength assessments, injections, infusions, the list goes on. There are many potential side effects to consider. In all of this though, I have to say that what rises to the surface is the hope that even if the trial drug he takes works just a little bit, maybe it will be enough to stabilize him or slow the course of the disease down long enough to keep him where he is until the next thing comes along, or something is finally approved to treat the disease. Most clinical trials for Duchenne require that participants be 7 years old so that the researchers can be certain that it is the drug, and not the honeymoon phase, causing any increase in strength they observe. I feel fortunate that just as he turns 7, we have the option to get him right into a trial. Maybe, just maybe, 7 will not be the year that marks the beginning of decline for him.

I don't expect a miracle, but in my wildest dreams I imagine him walking up to get his diploma at his high school graduation. Right now, that is where I set my sights. It seems reasonable that within a few years we will have a drug that will work well enough slowing progression that this generation of children will walk longer, be able to brush their own teeth and feed themselves into adulthood, breathe on their own into adulthood. Soon after he was diagnosed, my mom made a comment to the effect of, "he may not have a very long adult life, but we can make sure he has the best childhood a kid can have." I'm not sure what Griffin wished for when he blew out the candles at his 7th birthday party, but my wish for him now, at the end of his 7th year of life, is for many more years of awesome childhood and amazing adventures.

Changing Pictures

I sit writing this blog post in the cathedral-like kitchen of our new house. This house was on the market for a while before we bought it, and I drove past it many times and never gave it a second glance, despite the fact that we were unofficially scoping out the real estate market.

We have always lived in small houses. Small is beautiful. Our most recent home (before this one) was a tiny two bedroom that received lots of passive solar in winter, and had trees positioned just perfectly to block out the sun when the trees leafed out in spring and summer. It was small enough that one wood stove could sufficiently heat the house during most of the winter, and we rarely even turned on our energy efficient radiant floor heating system. It was tucked down a dirt road and had big windows with views of a field and woods, a big garden and plenty of space outside for our kids to play. It was getting a little cramped for four of us, which is why off and on we looked into what was on the market. We hoped to move into a slightly larger, two-story version of the same house.

If it hadn't been for Griffin and his diagnosis, we never would have looked at the house we bought. It's huge, much bigger than necessary for a family of four, and close to main roads. It's actually in a lovely scenic spot overlooking the Connecticut River, but also has a great view of I-91. It is not the kind of house I ever imagined owning. But...all of the living space is on one floor, with wide doorways that can accommodate a wheel chair. The main entry into the house is through a two car garage, and we can easily build a ramp up the one step into the entryway. And until we need the ramp, Griffin can manage one step for a while to come. There is a finished basement with a second kitchen and living space, as well as two bedrooms, so someone (for example, my mom or a live-in caregiver) can live there and help care for Griffin when his needs become more intense, or could serve as Griffin's separate living space so he can have some independence while still close enough for us to quickly and easily support him with the tasks of daily life.

Note: Thanks to my parents, without whose urging we would never have set foot in this house, and especially to my mom who made this picture a reality.

Our home is just one of the many images of the future Brian and I have had to change. Until a year and a half ago, we imagined a future with two healthy, strong sons. This was a painful image to have to change, but with time we can adjust to our new future. As time goes on, other images have had to change. I always thought Griffin would be tall, like his grandpa Gregg. But a combination of the corticosteroids he has to take to maintain his strength longer and the disease itself will most certainly stunt his growth. If he has to take this medicine for many years because nothing better comes along, he will be lucky to be five feet tall. But, small is beautiful, right? His smaller stature will mean his muscles can keep him walking and moving and his heart beating longer than they would have otherwise.

As we move further forward in time, some of the initial images I had of the future when he was first diagnosed have continued to change. I was devastated and kept awake at night by visions of him in a wheel chair, attached to a ventilator, unable to move a muscle. Of sitting shell-shocked at his funeral not so many (not enough) years from now. Since then, I have learned about all the hope there is for him. I have seen multiple videos of boys with his disease participating in clinical trials, walking unaided and at a normal pace at 13, 14, 15 years old, bounding up a hill like a healthy child at 9 and 10. These drugs are working. I feel like I am witness to a literal miracle, though I know it is decades of research, millions of dollars and the unbreakable hope and dogged perseverance of thousands of parents and their doctors that has made this possible.

In the past month, and for the first time ever, three different companies have submitted New Drug Applications for drugs to treat DMD. Two are exon skippers that "skip" over the broken part of the gene, allowing it to produce a smaller but still functional dystrophin protein, essentially turning Duchenne Muscular Dystrophy into its milder cousin Becker Muscular Dystrophy. It's not a cure, but it is leagues beyond anything else we have so far. Another drug slows or stops the progression of pulmonary decline. Others in trials replace the missing dystrophin with another protein that serves the same purpose, slow or stop cardiomyopathy, stop the cycle of fibrosis and inflammation that lead to the symptoms of the disease, increase the presence of other proteins and enzymes that can counter symptoms, and coming up behind these are genome editors. Genome editors. Researchers now have the capability to fix the mutation at the DNA level. That, my friends, will cure DMD.

So for now, my pictures of the future remain fuzzy. I don't know how long Griffin will be with us, but I can reasonably hope he will graduate from high school, go on to college, get a job and be an adult. He may well be among the first generation of children with DMD to walk into their twenties, breathe into their thirties or forties, and live into their sixties. It's nowhere near the future I imagined for him when he was a baby, but then again, what child grows up to embody all of their parents hopes and expectations? It may still seem like a bleak future to a parent of a healthy child (I mean, most of us hope and expect our children to breathe on their own until their very last breath at a ripe old age), but I will take it, and I plan to soak up and appreciate every moment of it so much more than I ever would have before.

When we first got married, Brian and I had a conversation about his daredevil inclinations. During this conversation he said, "I'm not an idiot, I'm not going to go try to climb Mount Everest or anything!" Never say never. Another picture to change. Along with other parents and compassionate daredevils, Brian is currently planning a trek to Mount Everest Base Camp (OK...I may have led you to believe he planned to summit it, but, like he said, he's not an idiot). The trek is symbolic for the parents on the team, who are taking a long, difficult walk in support of their children who have a lifetime of hard walking to do, but it is also a fundraiser for the Hope for Gus foundation. Hope for Gus will donate every cent of the proceeds of this expedition into the most promising clinical trials for DMD. I end this blog post with a shameless plug: I hope you will consider a donation, however small, to support Brian in this huge and life-changing undertaking. You just might be participating in the making of a miracle. Help us change the picture of the future for children with DMD.

Brian Goes to Everest to End Duchenne

It's the Best of Times, It's the Worst of Times

Summer is here, and it has been a busy, sweaty, dirty, sandy, wet and sunny adventure so far. Both of my boys play hard outside and summer is the time for playing hard outside.

I always love summer, but this one in particular seems so sweet. I think having a child diagnosed with a fatal disease is right up on the top ten list of worst things that can happen to a person. I used to wonder how parents with very sick children coped, and wasn't sure how I would if it ever happened to me. It is just as awful as I imagined, but I had no idea that it could also bring the good things in life into sharp focus. It's the best of times and the worst of times all at once. I've said it before and I'll say it again now: life has actually gotten more fun since Griffin's diagnosis. It has also gotten more stressful, and more challenging as we navigate doctor's appointments, PT and OT sessions, EIP meetings, attempt to wrap our minds around drug trials and possible treatments, and work with his doctors to find the best treatment plan for him. Not all boys with DMD progress the same way, and the benefits and consequences of each potential treatment have to be studied and weighed. No one knows exactly why each boy is different…some may regenerate muscle more easily or more quickly (or more slowly), others may up-regulate other proteins that can help substitute temporarily for the lack of dystrophin (or not), others may actually be able to produce a tiny bit of dystrophin (or not). Complicating this further is that no one really knows if the specific mutation a boy has can in any way predict his progression. It seems some mutations can protect against heart damage, while others result in early cardiomyopathy. Others are more likely to result in significant cognitive changes, while some seem to have no effect on cognitive function at all. A study recently came out that seems to show that boys with a very specific type of mutation progress markedly more slowly, despite a complete lack of dystrophin. Surprise! As soon as we think we know something about this disease, research uncovers something new that throws it all on its head.

Some of this is because until recently, not much research on DMD had been conducted. I think researchers felt that it was such a rare disease, a cure was a long way off, and there was no effective treatment available, so why bother researching? There is nothing to be done for them. Their lives are over before they start. Sad, but what can we do? Better to spend research dollars on a more common disease that can actually be cured or treated. Now, suddenly, a cure seems like a real possibility, shining like a beacon. Still distant, still blinking off and on, but there, beckoning. It is there, it's just a matter of time, large quantities of money and focused, determined effort. A flurry of research is being done all at once, and it seems the more we learn the less we know. Eventually, it will all be figured out, and fifty years from now, boys will no longer receive a death sentence with a DMD diagnosis. They will go home with some PT exercises and a long list of prescriptions and go on with their lives. Will something come along in time for Griffin? Quite possibly, but quite possibly not.

It's a lot to reckon with as a parent. In the midst of all this uncertainty and confusion, though, there is a real shift in priorities for the better. We are savoring the sweetness life has to offer and brushing off the random difficulties. Little things that go wrong just don't seem very important anymore. A day spent playing at the beach in the sun seems like a treasure, something to savor. Life has become more about staying in the moment and making the most of each day, and less about getting through a difficult day so we can move on to a better one. Each day is a gift, no matter what it holds. Each sunrise is a new opportunity for finding the good in life, and soaking it up like a sponge.

I spent the first six months post-diagnosis in a state of flux between utter hopelessness and utter hopefulness. I poured my energy into researching promising clinical trials, doing what I could to help raise funds and awareness for the organizations doing the most to help, obsessing over Griffin's "milder" symptoms and what this might mean for his progression. "He is young enough to benefit from drugs in development. It will happen for him. He is part of the first generation of boys to be rescued from this disease. His symptoms are mild, he will do better than the norm. He might even have Becker MD, a milder form of the disease. Maybe he will be OK." These were the stories I told myself. And it may turn out that they are all true, or at least some of them might be. But what if it doesn't? What if I am kidding myself, thinking his story will be different? I can feel a shift happening within me. Lately, I am having more and more trouble convincing myself that a good treatment is on the horizon and will be here in time for him, and my initial conviction that he was going to progress slowly is eroding. Nothing has changed, he's still doing fine and still gaining strength. But six months into the diagnosis, the picture of the future that I painted for myself because I had to paint it in order to make it through those impossible first days is peeling away and revealing other potential futures hiding beneath. I know I need to find a way to be at peace with whatever is coming. I still need to feel hope, and woe to the person who tries to take my hope away from me (no, there are not hope stealing monsters out to get me, but well-meaning comments like "you shouldn't get your hopes up too much" are like a punch in the gut…you try having a child diagnosed with a fatal illness and not get your hopes up when there is a promising clinical trial going on!), but I also know that Griffin will be best served by taking each day as it comes, crossing whatever bridges need crossing when we get to them, and having realistic expectations of what his future needs will be. I can feel the franticness of the first post-diagnosis months starting to subside, and a "settling" beginning. It hasn't been easy to transition from assuming the best to making room for the worst, but it is necessary, and in the long run, it is good. This could be Griffin's strongest and healthiest summer ever. How awful, right? Or: this could be Griffin's strongest and healthiest summer ever! How awesome! I'm doing my best to choose the latter.