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.

It's a Good Thing I'm Rugged

Last month, my paternal grandfather passed away at almost 89 years of age. We will miss him terribly, but my family members can all agree he was ready to go. He dearly missed my grandmother, who passed away several years ago, he had diabetes, he was rapidly losing his eyesight and was beginning to have some trouble walking. For the past few years, he had been walking to the Senior Center down the road most days to play card games with his buddies and have lunch. I am told that the day he died was the first day that he had to have someone drive him to the Senior Center. It was the first day he felt he could not walk there on his own. His last little bit of independence was gone. As he was leaving the Senior Center that day, someone asked him why he wasn't staying for lunch. "I have a friend coming to visit," he replied, "I am going to go home and whoop it up!" At that moment, his heart stopped beating. I must say, those have got to be the best last words ever spoken. "I'm going to go whoop it up." My dad says my grandfather would have paid extra for that death.

During his final years, if asked how he was, he would sometimes list his ailments and then add, "but I'm OK. It's a good thing I'm rugged." It was a way of letting people know that despite the difficulties life presented him with on a daily basis, he was hanging in there. Since Griffin's diagnosis, I have been borrowing this phrase. I don't think I've ever said it out loud, but sometimes when I'm feeling particularly sorry for myself, I find myself listing all of my woes in my head. And then I think: It's a good thing I'm rugged.

"God only gives us what we can handle." I have been told this many times over the past few months, and I must tell you something doesn't feel right about that. It feels a little dismissive, like I should just put a smile on my face and charge forward, knowing God won't give me any more than I can handle, even though the truth is I don't have a clue how I will "handle" the painful and difficult challenges that lie ahead. Perhaps I should feel complimented that God thinks I'm such a badass. I'm not so sure. I like "It's a good thing I'm rugged" better because it allows me to acknowledge all the things that are so painful and unfair about this circumstance, while at the same time reminding me that no matter what happens, I'll make it through it.

Sometimes, I can almost forget. Occasionally, several days go by when I really don't worry or feel sad at all. I manage to live in the moment and not think about what the future will hold, or just assume that it won't be so bad. Maybe it is that spring is finally here, and everything seems better in the warm sun that promises an end to the long darkness of this difficult winter. Maybe it is that I have actually succeeded in adjusting my expectations of the future to include a child with a debilitating and ultimately fatal disease. Or maybe I have reached the stage of complete denial.

Another parent recently confided that sometimes she pretends her boys don't have DMD. They are still young and strong, so some days, she just imagines they are healthy. "Am I crazy?" she wondered. No, on the contrary, she is doing her best to stay sane. We all need a break from this sometimes. If pretending your child is healthy allows you some moments of happiness and serenity, then do it. Not all the time, but sometimes. Perhaps that doesn't make sense unless you have lived it. But no parent can withstand the prospect of a child becoming slowly immobilized and then dying without cracking up or falling into deep depression unless he or she sometimes pretends it is all OK, or believes that a cure will be found, or a miracle will happen.

Griffin makes it easy for me right now. He is the strongest he has ever been. He can walk farther and faster than ever before. He is having an easier time getting up from the floor. He can pedal a bike (!). He can stand on one foot. He can skip. He is in a grace period of gaining strength that some boys with DMD experience, when their natural growth and development overtakes the disease. In addition, he is growing up. He is becoming an articulate, imaginative and considerate person. Sometimes, I can see a glimmer of the young man he will one day be. I can sometimes forget that that young man, in addition to being articulate, imaginative and considerate, will also be immobile. In fact, I can't even imagine it, because right now, he is anything but. He is as busy and active as any five-year-old.

But sometimes, in the quiet moments, lying awake at night, I can't stop terrifying images of the future from filling my head and making it hard to breathe. Some mornings I wake up sad and feel like nothing can fix this. Nothing will ever make the world right again. At those moments, I can almost hear my grandfather's voice saying, "Hang in there, kid. You're pretty rugged." And I can hold my head up again, and look forward to another day whooping it up with one of the most amazing kids I have ever met.

Will You Carry This For Me?

When I was in junior high and high school, I put in a solid effort to play sports. I really tried. I tried tennis, basketball, softball, cross-country. I had a few moments of glory in each of these sports, but mostly I just sucked at them. There is more than one reason for this. I was stressed out by the competition. I was easily overwhelmed by the pressure. I would go blank and forget what I was supposed to do. But I also could never keep up. I fatigued more quickly than my teammates. I got yelled at by my coaches for stopping to catch my breath too much. I was constantly being told I wasn't trying hard enough, that I wasn't giving it my all. I guess I assumed this was true, and maybe sometimes it was. But I felt like I would regularly push myself to the limit and it still wasn't good enough. Up until I started running cross country as a sophomore in high school, I just chalked it up to the pressure of competition. I just wasn't cut out for organized sports. Cross-country, I thought, would work for me. But I still sucked. I went to practice every day and ran as well as I could. I ran on the weekends. I did everything everyone else did. I wasn't sedentary, I wasn't particularly out of shape. Despite my best efforts, though, it was never enough. It took everything I had not to come in last in every race.

As we recently discovered, I carry the same mutation in the dystrophin gene on one of my X chromosomes that Griffin has. Carrier females are protected from muscle damage by the dystrophin coded for by the second, healthy X (males have an X and a Y and so have no back-up if they receive a mutated X). Nature abhors waste as much as it does a vacuum, so in females, each cell randomly chooses one X to use and turns off the other. Each skeletal and cardiac muscle cell in my body decided randomly which X it would use and had a 50/50 chance of inactivating the healthy or the mutated X. In  most girls, at least half of the cells wind up with the healthy X, which is enough to prevent symptoms. This doesn't always happen, and sometimes girls can end up with symptoms or even the full blown disease if the balance is tipped more toward the mutated X.

Since I am a carrier, I have a higher risk of cardiomyopathy than the average person (since some of my cardiac muscle might be making do without dystrophin) and so I had the pleasure of spending a morning at the hospital getting blood tests and an echocardiogram and an EKG. Good news is, my heart is just fine. However, during my visit with the cardiologist, he asked me if I experienced any muscle weakness. I said I didn't think so. Perhaps my response wasn't convincing, because then it was as if he read my mind. He said, "so, when you were growing up, no one was ever like 'oh, that's just Maggie, she's always last'?" I cringed. That is exactly what everyone was like. In college, I did an off-campus program that involved a lot of hiking and physically active outdoor adventure type activities. It was such a running joke among my co-participants that it became a slogan: "Always Waiting for Maggs." In graduate school, I had long since given up running as a sport, but would go jogging with friends who theoretically were in no better shape than I was. They would try to run alongside me for a while, but would inevitably wind up several yards ahead of me, yelling their half of the conversation back to me over their shoulders, eventually disappearing around the next corner. It was frustrating, but I just figured I was a wimp.

I'd be remiss if I didn't mention that I also have some time management issues that have played into my reputation for always being last, but the truth is I have been a few steps behind everyone else my entire life. It is so ingrained I just take it for granted. It never even occurred to me to wonder why.

Based on this mildly embarrassing account of my childhood and early adulthood, the cardiologist added a CK level check to my labs. Creatine Kinase, if you recall, is an enzyme released by muscles when they are being damaged. It came back elevated. It wasn't grossly elevated the way Griffin's is, but it was higher than normal. I am now part of a small club of women called "manifesting carriers." Suddenly, it all makes sense.

Since I am a carrier, this means my mother and both of my sisters might also be. My littlest sister was most concerned about this since she just got married and is beginning to think about starting a family. If she is a carrier, this complicates things as far as having children goes. Her best bet, if she is a carrier, is to use IVF and select the embryos without the mutation to be implanted. Price tag: $20,000. Insurance doesn't cover it. She could also go the old-fashioned route and hope for the best. Amniocentesis can be used to check for the mutation at about 12 weeks. Then it is a 3-4 week wait for results. Then a heartbreaking, gut-wrenching decision will have to be made if the baby tests positive. If you have ever had a child, you know that 16 weeks is far too long to wait for that kind of decision. So she was the most anxious to find out about her carrier status and immediately made an appointment with a genetic counselor for testing. Happily, she is not a carrier, so no difficult decisions need to be made and we can all sit back, relax and wait for more babies to snuggle.

We don't know yet about my mom or my other sister, so the waiting continues...

DMD and Me

I have been reflecting on an interesting thing I have noticed. When older boys and men talk about having DMD, they don't say, "I am Bob and I have DMD." They say "I am Bob with DMD." It isn't a disease that comes in on a virus or a bacteria or some foreign substance and infects a person. It is literally in them, part of them, from the very beginning. From the first stage of cell division that will later become the person.

I recently had an online conversation with a scientist and also a mother of a boy with DMD who is researching the cognitive changes associated with the disease. There are several dystrophin isoforms in the brain, and boys with mutations beyond exon 44 of the dystrophin gene (like Griffin, who has a deletion of exons 60-62) are likely to have some cognitive changes as a result of DMD. This researcher made sure to point out that she used the word "changes" and not "deficits" or some other negative term, because while some of these changes are negative (difficulties with verbal and phonological processing, trouble focusing, inflexibility, sometimes behavioral issues, etc.), not all of them are. Boys with DMD-related cognitive changes tend to be creative. They make connections others don't make and notice things others don't, which can make them good problem-solvers. They are dreamers. They are visionaries. Sometimes they have stronger senses. Griffin has an extremely sensitive nose. He is like a bloodhound. Before his diagnosis, I joked about how he was my dirty diaper detector because he would alert me instantly as soon as Ronan soiled his diaper. Often the first thing he notices upon entering a room is how it smells. It turns out that a strong sense of smell is a common trait among those with DMD. Boys who remain active into adulthood and are able to get jobs often become computer programmers, engineers and scientists.

If Griffin had been born without the mutation in his dystrophin gene, he would be a different person. There is no question in my mind. I have always loved that he is such a unique child. He has had a distinct and interesting personality his entire life. When I found out that some of his individuality is most likely directly related to his DMD, it occurred to me that the (as yet non-existent) exon skipping drug that will hopefully one day help him might also change him in ways we haven't considered. As it turns out, the blood/brain barrier is not easily overcome, and an exon skipper will not fix the dystrophin in his brain. So happily, no matter what, Griffin will stay Griffin.

I want to hate DMD, I really do. And I do hate what it will do to his body if no treatment is found. But in truth I can't hate it, not completely, because the DMD is part of Griffin, it is part of what makes him who he is. It is also in me, because I am a carrier. For both Griffin and I, and all others afflicted, our bodies are doing exactly what they are programmed to do. Our cells don't understand that this isn't the way it was supposed to be. Everything is humming along just as planned from their perspective.

Speaking of potential treatments and exon-skipping, right now an effort is underway to convince the FDA to grant accelerated approval for a new exon-skipping drug that has been shown to be safe and effective. Boys in the Phase 2 trial of this drug have remained stable and are producing dystrophin in their muscles. If this drug, Eteplirsen, is granted accelerated approval, boys with the mutation it works to remedy will be able to start taking it now, and the company will be able to move forward with efforts to make similar versions of the drug for different mutations. Griffin can't benefit from Eteplirsen, but he will benefit from a future variant of the drug that will work for his mutation. Without accelerated approval, it is likely to be at least 10 years before an exon-skipper that will work for Griffin will be developed. You can help urge the FDA to grant Eteplirsen accelerated approval by clicking here to sign a petition. The goal is 100,000 signatures by the end of March. Please take a moment out of your day to  take this simple action and possibly help thousands of boys add more healthy and active days to their lives.

Capable

Right after Griffin was diagnosed, we talked about how we were glad we didn't know sooner. Initially, I felt a little angry that his symptoms were ignored or dismissed for so long, but the more I thought about it, the more I realized that the five years of Not Knowing we had were a blessing. For five years, he got to be a regular kid, with no doctor's appointments beyond the usual well-child check-ups, no medicine beyond the occasional tylenol for teething pain or a fever. He got to run around and do normal kid things without his parents asking if he needed a break or making him sit out a game if he got out of breath, because we didn't know there was any reason NOT to let him wear himself out playing. He lived in the full sunshine, without the clouds of his disease drifting over his head from time to time as they always will from now on.

It hadn't occurred to me to also be grateful that we found out when we did until my mom pointed it out. For a few months before his diagnosis, Griffin had been saying "I can't" when we asked him to do basic things. Basic things like climb up into his car seat, or go up a flight of stairs, or walk back up the sledding hill, or stop using his left hand to push food onto his fork. Basic things like put on his own shoes, or put on his shirt. Basic things like practice writing his name, or any letters at all for that matter. We were starting to get frustrated with him. We were starting to put more pressure on him. He can do all of these things, but sometimes he is more tired than other times, sometimes he has already walked up the hill or stairs a few times and really can't do it anymore. It is hard work for him to maneuver a fork or a spoon with one hand. Holding a pencil properly and using it to write a letter requires dexterity he doesn't quite have. He was also beginning to fall behind his peers in early literacy. We were starting to worry. We were starting to think about flash cards and home lessons to try to catch him up. His teacher brought up keeping him in pre-school for one more year, since he didn't seem ready for academics yet. Now we know he will get there in his own time and in his own way. We can relax and just let him do his thing. Dystrophin appears to play a minor but specific role in the brain, which can effect learning (more about this in my next blog post). Griffin, for example, cannot make the connection between a letter and the sound it makes. This means that phonics, which almost all children use to learn to read, will not work for him. He can learn to recognize patterns of letters and already recognizes a lot of words, but he can't sound out a word. He doesn't know what sound the letter "S" makes, but he can read the word "Santa."

Amazingly, ever since we took the pressure off, Griffin hardly ever says "I can't" anymore. In fact, he is refusing help on a regular basis. He pushes my hands away, saying,"no, I can put on my own socks."  He doesn't want help putting on his shirt anymore. He insists on zipping his own jacket, and he rejects the hand I offer him going up stairs. He is also suddenly taking an interest in the more academic side of school. He can't write letters by hand, but he can make them with string or popsicle sticks. He is almost obsessively trying to figure out rhyming. He has started writing pretend letters, and scribbling across a page in straight lines as if he were writing. This is a known precursor to actual writing. He WILL learn to read and write, but it won't be in the traditional ways.

When he was first diagnosed, my heart broke under the weight of the belief that his future was over before it even started. Things I never even knew I cared about suddenly seemed important. He would never play sports, never have a girlfriend (O.K., or a boyfriend, if that turned out to be his preference), never get married or have children of his own. He might not graduate from high school, never mind college. He would never drive a car, never mind commute to work. I have since learned that thanks to advances in medicine, boys with DMD are now living longer and more active lives than they have ever been able to before. I hope that we can encourage Griffin to pursue the things he likes doing, and that we can help him to continue to enjoy learning. I want to expose him to as many things as I can, so that he can find the things he loves to do. I hope that he will grow up knowing he can find a way to do just about anything he wants, and that he has a team of people here to help him make his dreams come true. I hope he never gives up, that he finishes high school, goes to college, gets a job. I want Griffin to think of his future the way any kid does: full of promise and opportunities. Last Christmas, I bought him a shirt that says "capable." At first, I just thought of it as a cute alternative to the usual kid T-shirt slogans. Now, when he wears that shirt, it is a reminder to me that he is capable of anything. Maybe a modified version. Maybe not the traditional way. Maybe not the way everyone else does it. But I want to make sure I do whatever I can to make sure he grows up knowing that no matter what, he can do anything.

Update #2

Another brief update: I got my genetic test results back and I AM a carrier. I was surprised, and also surprised by how much it bothered me. Once we had Ronan's results back I felt like I didn't even care what mine were, mostly I just wanted to know Ronan was O.K. Maybe it was just the way the genetic counselor said it over the phone, as if she were delivering really bad news. Which I guess it would be, if we didn't already know that one of our kids had DMD and the other didn't. At this point, I didn't think I cared about myself. Unfortunately, it turns out that no matter how rational a person is, it is hard not to feel some irrational responsibility and guilt in a case like this. My son has a fatal disease and I gave it to him. I didn't know, it isn't my fault, no one could have predicted it. It's very strange to think I have been walking around with this time bomb my whole life and never knew.

Ronan has all of his exons :)

Just a quick update, since I know some of you read this blog but not my Facebook posts. We found out on Thursday that Ronan does NOT have DMD. His creatine kinase (CK) levels are well within the normal range. In DMD it would definitely be elevated, so we don't need to check his DNA, we know he does not have the mutation. We won't know for another couple weeks if I am a carrier, since we have to wait for the results of genetic testing. Stay tuned for a new blog post, but for now consider yourselves updated.

Ronan the Great and the Case of the Missing Exons

Ronan the Great. Whose third or fourth word, after Mama and Dada, was "help." Obsessed with brooms and vacuums. Lover of trucks and dinosaurs, stuffed whales and stuffed puppies. Maker of messes. Taker of naps. Shrieker of shrieks. Blower of bubbles and patter of dogs. Lover of a big brother. He runs to greet him at the door after school. He sneaks into his room in the wee hours in hopes of waking him up to play. He is a man of mystery. He dumps out a bucket of matchbox cars only to put them all back in. He builds a tall tower out of blocks just to knock it down. He asks for a snack and then throws most of it on the floor, or feeds it to the dog. He both loves and detests snow. He repeatedly turns on the battery operated dinosaur, then cries when it dutifully roars as programmed until someone rescues him by turning it off. He is an observant child, and can sit quietly watching and listening for an impressive amount of time. Sometimes he can't stay still for more than a second. And now he is the center of another mystery. The mystery of the missing exons.

The mystery will be solved in about a week. Ronan and I will both have blood drawn. Mine will be tested to see if it contains the same mutation that Griffin has (a deletion of exons 60-62 on the dystrophin gene), and Ronan will have his CK levels tested. While we will have to wait a month to find out if I carry the mutation that gave Griffin MD, we will know within a day or two if Ronan also has it. If his CK levels are elevated like Griffin's are, we will know that he shares the mutation with his brother, and more than likely I have it too and passed it on to both of my sons. Let's just say I am a little bit nervous.

People get confused about this part. Why isn't Brian being tested? And if I have the mutation, why don't I have MD?

Amazingly, the introductory genetics class I took in college is making itself useful fifteen years later. When I read that Duchenne and Becker muscular dystrophies are "x-linked" genetic disorders two months ago (what feels like a lifetime ago) I actually knew what that meant.

In explaining Griffin's condition to friends, family and co-workers, I find myself giving mini lectures in human genetics. Here's a little snippet of genetics 101: everyone is made up of information stored in the form of genes on two chromosomes. Exactly what is a chromosome? I don't know, but that's where your genes are. Anyway, women have two x chromosomes and men have one x chromosome and one y chromosome. Women=xx and men=xy. This should sound familiar so far. When there is a flaw on a gene that is found only on the x chromosome (like the dystrophin gene), females have another x chromosome with a healthy gene to cover for the mutated gene. Males only have one x chromosome, so they have no way to make up for the problem. This means that boys get the full-fledged disease, girls don't. Since one of their x chromosomes is flawed, girls will have a lower level of dystrophin than normal, which can sometimes lead to mild symptoms. If a girl gets an x chromosome with the mutation, she can pass it on to her children. If she has boys and they get the dysfunctional x from her, they will get the disease. Since she has two x chromosomes, one healthy and one mutated, and will only pass on one of these to her child, she has a fifty-fifty chance of passing on the mutation. This is called being a "carrier." If Griffin's mutation is found in my DNA, we will know that I am a carrier and that he got his defective x from me. Where did I get it? Either my mom is also a carrier and passed it on to me, or the mutation arose randomly in the egg that I developed from.

If I am not a carrier, it is possible that Griffin's one and only x chromosome has a spontaneous mutation that happened only in the egg he developed from. A third possibility is that I have what is called a "gonadal mosaic," which means that I don't have the mutation, but some percentage of my eggs have a mutated x. If this is the case, I will not show up as a carrier because the mutation isn't in my DNA. Currently, the only way to diagnose gonadal mosaicism is if a woman who has been found not to be a carrier has another child with Duchenne or Becker. As if this disease weren't mysterious enough already.

Ronan has zero symptoms of muscular dystrophy at the moment. He walked a little late, at 15 months, but that is still well within the normal range, and he was an expert crawler. Griffin was still not walking at 18 months, which was our first real clue that something was amiss. Ronan often stands up from a squat without using his hands. He tries to walk up and down stairs, and sometimes even alternates his feet. He is as close to being able to run and jump as Griffin is, despite being 3.5 years younger. No worries about him, then, right? Oh, but remember that this disease is nothing if not mysterious. Mystery is its middle name. Duchenne Mysterious MD. Every single case of Duchenne or Becker progresses a little bit differently. Even brothers, who have the exact same mutation, can manifest symptoms in wildly different ways. Some have symptoms nearly since birth, like Griffin, and some don't show any signs until they are 3. Why? No one knows. Probably it's just that every body is a little bit different. Some of us might have more of the other (non-dystrophin) proteins that protect muscle than others. Some of us probably regenerate muscle faster than others. For whatever reason, every patient handles the lack of dystrophin differently.

Our own family's mystery will be solved soon. Stay tuned.

So, how is Griffin?

Whenever I give someone "the news," one of their questions is usually, "does he know?" The answer is yes, and no.

Griffin doesn't know his prognosis, and even if we were to tell him I don't think his five-year-old brain could comprehend what it means. He does know he has something called muscular dystrophy and that it makes his muscles weak and so that is why he has to go to the doctor and do PT and stretch every day. I know that children often know more than they let on, and that they sometimes appear to be busily working on a lego construction or a coloring book or a play-doh sculpture, but are in fact intently listening to what the adults are saying. So I think it is possible he knows more than we think he does. He has been saying he doesn't want to grow up, that he wants to be a little boy forever. I wonder if he has an inkling that life will get more difficult for him as he gets older, or if he is just entering that period of angst so many children have when they realize they will one day be adults with responsibilities they can't begin to comprehend, but know are coming. Every so often, I remind him that if he hears me or his dad talking about something with his teachers or to his doctors or to anyone else, and he has any questions about anything he hears, it is OK for him to ask and we will always answer him. So far, when I encourage him to ask questions, he usually just asks me what's for dinner or if it is movie night or if he can have a piece of candy.

Another common question is "how is he doing?" Right now, pretty great. Other than being a little slower than his peers, he is like any five year old. He had a physical therapy evaluation two weeks ago, and it was encouraging. Both the therapist and his neurologist think he still has another couple years of gaining strength, and that he should be able to make some more gains. The physical therapist will be focusing on coordination and flexibility, and is optimistic that she can get him pedaling a bicycle and possibly even jumping or at least hopping. I hope she is right, because both of these are things Griffin would love to be able to do. He has very tight hamstrings, and we have been doing stretches every day since his physical therapy evaluation. This is important to keep his muscles as flexible as possible and avoid the risk of contractures later in his life. Griffin is not particularly happy about the intrusion into his activities that having to stop for stretching imposes, but he has been doing them and usually happily chooses which stretches he wants to do. We also got him a foam wedge and a scooter board (remember those wooden squares with little wheels on them from gym class in middle school?) that help with stretching and are also fun to play with. So far, so good. We are making the adjustments we need to make and trying not to think more than a few months into the future.

There are times I am kept awake at night thinking about how his calves seem to be developing by the minute, stretching against his skin in a last ditch effort to make up for the weakness in his thighs. Despite the doctors' consensus that his symptoms are mild and that he still has a few years of strengthening before he starts to weaken, I find myself watching him every time he stands up to see if he puts a hand on his thigh or not (Gower's sign). Sometimes he does, sometimes he doesn't. I also find myself watching Ronan, breathing a sigh of relief when he pops up from the floor without using his hands at all, or alternating his feet when he steps up stairs, and then wringing my hands the next minute, when he stumbles over the edge of the carpet or pushes his hands against the floor to stand up (totally normal for an 18 month old, by the way). When we have the genetic test results back for myself and Ronan, I will be very relieved if (when!) his results are normal, but a tiny part of me will feel just the slightest bit sad, knowing that Griffin will be alone with this in an otherwise healthy family.

For Griffin, life goes on as it always has, and is even, dare I say, a bit better. His birthday was quite the event this year. It felt like a wedding weekend, with family descending on our household, days of cake-baking and party preparation, several birthday events, a party complete with a puppet show, treasure hunt and 16 kids in attendance (our biggest birthday party turnout ever). We've made extra efforts to go out and do fun things as a family, and are planning vacations that we would have put off much longer, or possibly never have taken at all. It's been pretty fun around here lately, I will admit. In part, it is an attempt to distract ourselves, and in part it is because everything feels like it should count more, everything should be the best and funnest it can be. To my plodding motto of "one day at a time," I will add a more energetic "carpe diem."

Life is worse in a lot of ways, but also better in a lot of ways. Still, I would give up all the good stuff to have my normal, healthy child back.

Welcome to Holland

Mountains and Egyptian Rivers

I feel like I can't write any more blog posts without first saying how blessed I feel to have so many people, from close family members to near-strangers, rallying around us and offering kind words, help in many forms, from childcare to making us soup, providing shoulders to cry on and ears to listen, putting together MDA Muscle Walk teams in Griffin's honor, making donations to PPMD, and more messages, texts, emails and phone calls than I can count. If I tried to list all of you here, it would take up pages and pages. Thank you, all of you.

One of these helpful people is an old friend who was one of the first people I told about Griffin's diagnosis. She has two children with a different serious health condition that can be life-threatening if not managed carefully (she knows who she is). She told me that one rule she has is to "never, ever think about them dying," which at first sounded an awful lot like denial to me. Short of a  medical miracle, my son has no shot at a normal or full-length life. I have no choice but to think about him dying, because I know I am going to have to watch that happen at some point, far sooner than I can accept. This week, though, I realized that I discarded her piece of advice a little too hastily.

There are moments when I want to climb a mountain with a megaphone and blast this into the atmosphere: "What kind of ridiculousness is this? I thought I had a healthy child! He is missing one stupid protein and this is what happens? And there is NO CURE??? This is a cruel joke. It's not fair! Everyone else gets to keep their kids! ONE protein! Just make a batch of it and pour it into him. WE NEED SOME DYSTROPHIN UP IN HERE! Yesterday! People have been watching their kids die from this for centuries, and we can't figure out how to fix it? ARE YOU KIDDING ME WITH THIS SH*T?" If anyone had told me even three months ago that I could survive having a child diagnosed with a terminal illness, I would have thought that person was crazy.

Sometimes, though, what seems unsurmountable can be surmountable if you just take it one step at a time. Anyone who has ever climbed a mountain knows that it is a terrible idea to stand at the bottom, staring up at the peak, worrying that you might not have the strength to make it to the top. It's paralyzing, and the first step toward failing to reach the summit. My metaphor breaks down a little bit here, because the fact is I never want to reach the "summit" of this particular "mountain." I want to wander around in the foothills forever. But I think you probably get my point. Griffin has several more strong years before he starts to weaken. I can spend these years thinking about his future, worrying about what it will be like when he can no longer walk, imagining his untimely death, wondering what life will be like without him, and ranting angrily into a pretend megaphone. Or, I can spend these good years having as much fun as possible, finding ways to make sure he gets to do the things he wants to do most, helping him to do the things he loves and to use his talents and abilities. Most parents would say that what they want most for their children is for them to be happy. What I want most for Griffin is for him to be happy, and I owe it to him to put aside my fear and my anger and my sadness and be happy with him.

In order to do that, I will do as my friend suggested. For the time being, I will never, ever let myself think about him dying. Her point, I realize now, was not that we should live in denial. It was that we should not to let the bad things that could happen, or even the bad things that almost definitely will happen, keep us from being happy and enjoying life. Eventually, I know I will have to start up the steep trail that leads to the peak. But until that day comes, I will soak up the sun, smell the flowers, listen to the birds and relax by the river (and no, not the one in Egypt).

Internet Research and Birthdays

Today, Griffin's neurologist called to give us his genetic test results. He has a deletion of an exon in the gene responsible for making the protein dystrophin. Dystrophin is part of a group of proteins that protect and strengthen muscle fibers. Without enough dystrophin, muscles are damaged from everyday use. Over time, muscles degenerate and atrophy, and are replaced with fat and scar tissue (fibrosis). This leads to dependence on a wheel chair and eventually death from cardiac or respiratory problems.

Griffin's deletion is one that can lead to either Duchenne MD or Becker MD. In Becker, patients make some functional dystrophin but not enough to fully protect their muscles. The end result is the same as Duchenne, but its progression is generally slower.  To find out if Griffin has Duchenne or Becker, we will have to do a muscle biopsy to find out if he has any dystrophin in his muscles. If he has more than trace amounts, he will be diagnosed with Becker. Otherwise, he will be diagnosed with Duchenne. Since he already has symptoms, even if he has Becker, it will be a more severe version and it doesn't make that much difference which it is.

Do I sound like a know-it-all? Well, I admit I looked it all up on the internet. Every doctor we have spoken to and also some other well-meaning advice givers have cautioned us about looking stuff up on the internet. You will just scare yourself. You will find lots of questionable and misleading information. I always nod like I understand and will dutifully not look up anything on the internet, but it's just a facade. Here's the thing: I am going to look up everything the doctors say to me on the internet. I am going to scour the internet for the latest news on clinical trials and the latest treatments for this horrible disease. 100% of people diagnosed with Duchenne are children. They are dependent on their parents to be their advocates. I need to be able to ask my doctor informed questions, and I know his doctors don't have time to sit around reading scientific journal articles and clinical study reports all day long. They do their best, but their first priority (and rightfully so) is taking care of their patients. You know whose job it is to know everything there is to know? MINE. I want to be sure I have the most up to date information so that I can help guide his care and make sure it is the best it can be. From what I can tell so far, parents of children with MD become experts in the disease very rapidly. We are our children's advocates and protectors. In order to do this effectively, we must become know-it-alls.

The source of a lot of my information as well as the much-needed sense that I am not the only person to be in this most unfortunate circumstance is the Parent Project Muscular Dystrophy website. This organization was founded by a woman, Pat Furlong, who has two sons who died from Duchenne. She knows exactly what it is like to be a parent to a child with a serious illness before there was the internet and before there was social media. It was isolating, and hard to find information about her sons' disease. When faced with this diagnosis, we as parents want to feel proactive, and like we have some kind of leverage. Knowledge is power, as they say. So Pat Furlong and some other parents of children with Duchenne started the Parent Project to provide parents with information, including the latest research on and treatments for MD, to help connect parents of children with this condition with each other and to give parents the tools to participate in fundraising for the most promising drug research.

Griffin's fifth birthday is January 18th. In honor of his birthday, I shamelessly suggest that you consider a donation to this organization. It is truly providing parents with the tools and knowledge to be their children's best possible advocates. I can add this organization to the list of things I am grateful for. Making a donation right now will help PPMD develop a "Duchenne Superhighway" that will help speed research into the most promising drugs. One of his doctors said, "There are hundreds of drugs currently in the process of development…we just need one of them to work." A miracle just might be within our reach. It is possible that a donation to this organization will help to ensure that Griffin has many more birthdays to come.

In the meantime, life goes on. For his fifth birthday, Griffin lost his first tooth!