Friday, July 30, 2010

Dream Therapy

My first full day in Chicago is not in the books, and I've already managed to glean a lot of great information about infantile and late infantile research. I look forward to sharing many details in our summer newsletter. It'll be delivered in the next few weeks, so if you haven't already, please be sure to go to our website and sign up to receive it!

Talking to scientists - getting the scoop on where things stand straight from the source - is incredibly important to the work we do at Taylor's Tale. It's not enough to help me sleep at night, though. Those conversations give me plenty to chew on, but I go somewhere else for my daily dose of inspiration - a medication I sorely need whenever I start to feel angry at a world that includes Batten disease or get impatient about the speed of science.

Today's dose of inspiration is this picture of Taylor and our dad while on vacation in the Virgin Islands last weekend. Dad told a joke at his own expense and asked T if he should puff up his chest for the camera. Right as I snapped the picture, T considered this and laughed. It was the best moment of that day. That's the kind of moment that helps me run faster and fight harder. It's the kind of moment that makes my dreams good again.

Déjà vu

I arrived in Chicago a few hours ago for the Batten Disease Support and Research Association (BDSRA) annual conference.

As I walked into the hotel lobby, I couldn't help feeling as though I'd been here before. I have, in fact, only been to Chicago once before, and that was for a work conference at a place with a view of Michigan Avenue. What I remembered, rather, was the moment my mom and I entered a different hotel in Rochester three years ago for our first BDSRA conference, which that year was paired with the international scientific congress on neuronal ceroid lipofuscinosis (NCL), the fancy name for Batten disease. We were still new to this then, not quite 12 months removed from that fateful day in July when a geneticist told my parents that their youngest daughter was going to die. We were scared because we were still getting to know Batten disease at that point. We were scared because we knew the conference hotel would be teeming with kids far more affected than Taylor at the time - our unwanted crystal balls. And yet, encasing the fear that resided deep within us like a hard, defiant shell was an enormous sense of confidence and our untarnished, shared belief that T would be different, that we would win.

I still wear that shell, but its once spotless exterior is covered in nicks after four hard years of watching a little girl I love, and our family, bend (but not break - not yet) under the weight of the tragedy that was encoded in all of T's genes and half of mine. I just realized that I never blogged on the most recent anniversary of T's diagnosis - July 24, one week ago tomorrow. I wonder now if counting those years ever mattered, or if it ever will. One thing Batten disease has managed to teach me, after all, is the importance of cherishing each day. I am simply too human to tackle this whole years or even months at a time. So instead, I tackle each day. I am not quite the same person I was when I walked into that Rochester hotel three years ago. In some ways, I am weaker. And yet, I am stronger - buoyed by the enduring hope that all of our friends' and donors' great gifts of time, friendship, love and money have given me. On Saturday night, I will award another research grant on behalf of Taylor's Tale as well as all those who support us and all those we aim to save. And for another 365 days, I will believe.

Sunday, July 18, 2010

Major Victory Scored for Rare Disease Community

Thanks to our partner, the Kakkis EveryLife Foundation, for their work on behalf of the rare disease community. The lives of children with Batten disease depend on not only the momentous work being done in research labs across the nation and world, but also on the ability of this research to make the leap from bench to bedside. The Kakkis Foundation's CureTheProcess campaign - an effort Taylor's Tale endorsed earlier this year - is dedicated to putting treatments for rare/orphan diseases like Batten disease on the fast track.

A major victory was just scored on behalf of everyone who suffers from rare/orphan diseases, due in large part to the work of our friends at Kakkis. Read the press release.

Sunday, July 4, 2010

Petals Off a Rose

It is July 4, a beautiful day in Charlotte. The Yankees game is on television, and the team in pinstripes is threatening to score. In a few hours, we will join friends and family for a cookout and, later, fireworks.

My mind and my heart, though, are on Oak Island off the coast of North Carolina, in the high-ceilinged kitchen of our beach house. I am 12. My mom is slicing a watermelon, and my grandmother is folding our quilt that doubles as a picnic blanket into a perfect rectangle. The men are sweating in their khaki shorts on the fake leather couches in the adjoining den. My brother, Stephen, is in the corner, playing a handheld video game. I am at the kitchen table - the same table that years later will sit in my college apartment and, after that, my post-graduation apartment back home, and finally, the bonus room in my house. I am drawing pictures in bright colors and eating a popsicle. Some of the cherry-flavored juices dribble onto my picture. I give one of my cartoon characters a red shirt to hide the spots. We are just a few hours away from piling into the car and driving seven miles down Main Street and over the bridge to the mainland and into the picturesque town of Southport on the shores of the Cape Fear River. Before reaching the waterfront park, we will stop at Hardee's for fried chicken and biscuits and mashed potatoes and gravy and sweet tea. At the park, we will spread our blanket among the others and stretch out to eat under a hazy blue sky. After dinner, my brother and I will walk down to the pier and buy red, white and blue snow cones. Someone gives us 10 dollars to buy fluorescent light rings that we will wear around our necks after the sun goes down. Just before nine, I put my head in my grandmother's lap and wait for the fireworks to light up the sky, an easy smile stretched across my small face.

It is just one version of a memory that was a staple of my childhood. From year to year, the minor details may have changed - for example, one year, Stephen and I didn't make it to the trailer that sold snow cones, because we ran through the sidewalk sprinklers after dinner until the adults worried, because it was getting dark and they didn't want to lose us in the throng of people on the lawn.

I haven't spent July 4 on the Southport waterfront in 12 years. My grandparents sold the beach house on Oak Island when I was in high school. I have been back to the island twice since then, and only once for an overnight trip. On that particular trip, I was relieved to find that the house was still there. I was sad to see the unfamiliar sedan parked in the unpaved driveway. My mom, grandmother, Taylor and I stayed in a friend's condo on the Intracoastal Waterway half a mile from the old house. I had a migraine the night we drove to Southport to sit on the swings a stone's throw from the picnic table that still had my name carved into the top in block letters and found my six-year-old sister's constant chattering unbearable. I yelled at her a lot. During a moment of temporary sanity, though, I took a picture of the others sitting together on the swing. It is in a frame in my guest room today. I keep the door to that room closed most of the time, but sometimes I'll walk in there just to look at that picture. In it, T's strawberry-blonde hair is long. As always, she is in pink. She can clearly see me standing there with the camera pointed at her, and she is looking at me. Her feet don't touch the ground. Almost exactly one year later, she will be diagnosed with Batten disease.

A neurodegenerative disease is, in a way, like the passage of time. I have faith that there will be always something new to look forward to. After all, I met my husband around the time we sold the beach house. My mom had Taylor the last summer we spent there - a memory cemented by the picture of her very pregnant on the couch in the sun room. I met some of my closest friends on campus in Chapel Hill years later.

Time, though, while promising the creation of new happy memories, strips some of the old ones away. Since Taylor was diagnosed with Batten disease in the summer of '06, I have lost my great-grandmother, worried constantly about my grandfather's failing physical health and the unimaginable stress my parents have to endure, watched degenerative brain disease tighten its long-held grip on one of my grandmothers and spring a sudden, forceful, rapidly moving attack on the other. Meanwhile, Batten, in its own dreadful way, has systematically robbed my beautiful little sister completely of sight, to some degree speech and to great degree happiness. Time has a way of washing away many of the painful memories, but sometimes it also steals from us the memories that are most beautiful, like pulling petals off a rose.

Saturday, July 3, 2010

Moments of Wonder

Life is unpredictable.

Sometimes, beautiful sunrises are followed by unfortunate phone calls that haunt the recipients for the rest of their lives. Other times, tragic accidents bring two people together who otherwise may never have met, and those people fall in love. We struggle to get through some days and claw and scratch our way out of the worst of them. When we find ourselves in a long, dark tunnel, it's the light at the end, either seen or imagined - breathing in mountaintop air, hearing the laugh of a child, getting a hug from a friend - that helps us find our way.

Life is a mixed bag.

In the middle of the night last night, I gave up on sleep. Seeing that my husband had had better luck finding peace, I climbed out of bed gingerly, tiptoed around my sleeping dog's bed on the floor of our room, opened the door quietly and padded down the hall to our great room. I sat down on the couch. I briefly took in, for the first time, the way light and shadows play on the 18-foot ceiling and walls when the world is sleeping. And then, without warning, I started to cry. But the sun still rose this morning, and not 10 hours after my solitary moment of grief, I laced up my shoes and stepped outside into a beautiful, sub-90-degree July day under bright green leaves that whispered in the midday breeze and a blue sky unmarred by clouds. I took a walk with my husband and my dog and breathed it all in, and I was happy.

Life is full of terrible pain and grief, but even in its darkest hours, life can be illuminated by moments of great wonder and beauty. And those - those are the moments that make life worth living.