The Rose

A few days ago, I was in the soap aisle at Target when I heard a familiar voice. I pushed the detergent back on the shelf, and hurried around to the next aisle. There she was. It was Rose. She looked up at me and I smiled.

The last time I had seen Rose was three years ago on the day I said goodbye to our house on Pine Street, the house I carried my babies into just after they were born, where they learned to crawl across my grandmother’s rug and to climb the stairs for the first time. Pain had filled my heart as I thought of leaving behind the house packed with the greatest memories of my life. 

 
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It was 2016. We had just moved out one month before, but I had been going back to the old house, collecting the last items left in the tops of closets and the backs of drawers, prying kid locks off of doors, hanging curtains. It was almost seven pm and I was hauling a few buckets of cleaning supplies, tape rolls, paint rollers and trays out to the curb. I walked back to the front door, recently painted a bright blue. I stopped and admired it, then pulled it shut one last time.  

Just in that moment, I heard Rose’s voice. She mumbled in the distance. I walked through the black wrought-iron gate and opened the back of my car, lifting the pile of supplies on the grass into the trunk. It felt so appropriate that I would run into her on my very last day on Pine Street. She had become part of my life over the years. Our house fell right on the route she walked every day from the assisted facility where she spent her days to her apartment a few blocks away. She might have been in her mid fifties, and she lived with a condition I will never know. She was smart and straight-forward. Her blue eyes were bright as ice and inquisitive, her silver hair cut razor short. Her voice was deep, slow and monotone. She was just, Rose.

I felt myself rushing, guiltily, knowing that Rose would spot me soon and wanting to get home after a long day to sit down, hug my kids, and eat the dinner my mother-in-law had just prepared. I had been painting and cleaning for the past five hours and was more than ready to close up the house and leave. I had said my goodbyes, walking around the house one last time, stopping to speak out loud the memories that filled each room. What began as pain turned to tears of happiness as I watched the past six years of my life run like a movie reel through my head.  

I picked up the last bucket and put it in the trunk, lifting my head to peer through the car window in search of Rose. I stepped back and there she was in front of me in her oversized T-shirt, her black guitar case over her shoulder. She looked at me sternly. “Are you leaving?” she said slowly.  She had asked the same question a month earlier, but I had managed to dodge it. Rose didn’t like change. The thought of an unknown future that was new and different worried her. This time, though, she caught me by surprise. “We are, but we’ll be back to visit”. I felt bad finally telling her the truth. “Boo hoo. I’m sad”, she said. Her emotions struck me.  

I took a deep breath and relaxed my shoulders. I could make this time for Rose. I gave her my hand. She was already reaching for it. She always loved to hold my hand. It seemed like her way of connecting with the world around her. I could relate. “Your hands are cold.  Are you cold?” she asked. “Yes”, I told her. Fall had arrived, it was getting chilly tonight and I was still in short-sleeves. “Cold hands, warm heart” she said in her deep monotonous voice. She gave me a half smile, her bright blue eyes staring intently into mine.  

“I like you. Why are you leaving?” she wanted to know. I told her we wanted more space for our kids and we wanted our parents to come stay with us, to help us. “Why?” she pried as if she already knew.  Because we needed more space for our children, I said again, and was about to stop there. I didn’t have it in me to tell her about Mila’s unexplainable vision loss, her tripping and falling, her stuttering, her screams in response to loud noises. And how each symptom seemed to be getting progressively worse recently. How could I tell someone that faced her own challenges how scared I was, how desperate I was to help my little daughter who seemed to be deteriorating. And I wasn’t sure she would understand. But something made me continue. “Our daughter needs a little extra help”. Rose paused, her small bright blue eyes surrounded by pale, slightly wrinkled skin stared into mine. “Will she drive?”. Tears welled in my eyes. “Maybe, I’m not sure. Or maybe not”. I suddenly felt sad after uttering those words, but they were raw and honest. There I was, standing on the curb with Rose, exposed. I could see that she was thinking hard. “Or will she take the bus?” she continued, pausing, as if she understood. “She might, I don’t know”, I heard myself respond.  

“Your hands are cold, Julia” she repeated, annunciating each word with no change in tone. She lowered her head toward the ground and started to mumble, lost in her own thoughts it seemed. We let go of each other’s hands. I wasn’t sure I would ever see her again. Then she turned and continued walking slowly down the sidewalk toward her apartment. I opened my car door and looked over my shoulder. Rose was a little farther down the sidewalk. She had stopped and was turned to one side, talking to an imaginary person beside her. “Maybe she’ll take the bus with me”, I heard her say.  

My lashes fell to my cheeks. Tears poured down my face.

That was 2016. Now I was seeing Rose again for the first time in years. As I stood there, I thought back to our conversation on the curb. So much had happened in my life since that day. “Julia” she said. She remembered me. I certainly hadn’t forgotten her. “How is your daughter?” she continued. I couldn’t find it in me to tell her that just a few months after we last met, Mila was given a death sentence - Batten disease. I paused. We sat in silence for a moment. I answered in the way I’ve learned is most honest and comfortable for me, with simply how I feel that day. The larger question is simply too difficult to explain in passing and perhaps more than what most people want to know. “She’s doing pretty well today. Thanks for asking about her, Rose.”  

It hit me right then that the thought of Mila taking a city bus with Rose now seemed like a dream. 

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Mila’s future is unknown. Three years ago she was given no hope at all. None. And just one year later, after the most unbelievable fight of a lifetime, her destiny shifted directions and she was given another shot at life. Now, we find ourselves in unknown territory, farther down the tracks on the roller coaster of Mila’s life. No child has ever lived with Batten disease. Scientists barely understand what the disease does in the brain and body. And Mila had lost so much before her treatment even started. The dominoes of genetic disease had fallen for seven years and the question we all continue to face is “How many neurons were we able to save in time and how many were too far down the line in the dying process to be stopped?”. We all knew going into Mila’s treatment, that it was a Hail Mary. 

Amazingly, we’ve seen more promising signs than we ever expected - many of her disease symptoms have stabilized, even improved. She lives an almost completely seizure-free life. She still stands and takes steps with assistance. She still eats mostly by mouth. And her hands are able to open smoothly to feel the table, the top of the stairs, the door knob. But she isn’t as responsive to the songs and stories that used to make her laugh. An indescribable pain. But after each dose, her smiles and laughter return temporarily making us question what this means? It’s a complicated disease and an entirely new drug. So much is still to be learned. While I am grateful every day for where she is compared to where she should be today, we keep fighting, learning and working on ways to save Mila while we still can.  

As we walk down this unknown path, I continue to keep one foot in hope and the other in reality. Tonight I reflect on how I crossed paths with Rose just at a time when I questioned Mila’s future. I smiled and thought to myself “Who knows. One day maybe Mila will take the bus with Rose.”

 
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Drawing the Line

I held my breath and knocked. I waited, and turned my head to look down the empty hallway to my right, the grey carpet and grey walls fading into each other. I looked back and found the doorbell. Taking a deep breath, I reached out and pushed the round black button. Footsteps grew louder. The door opened and there was Lori, just as I had seen her in articles online. Her big smile and bright blonde hair welcomed me into the apartment. We wrapped our arms around each other tightly and held on for what seemed like minutes. We were strangers with no reason to cross paths. But life had thrown something at both of us that bound us forever.

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Lori and her husband Jeff live in Iowa, where they brought up their identical twin daughters, Alex and Jaci. The two little girls with curly carrot-colored locks were inseparable and loved horses and being outside. But at just eleven years old, Alex started experiencing neurological symptoms. After a rapid decline, she was expected to live less than one year, but decided to go on a ventilator that offered her respiratory assistance. She fought courageously for six years before her body gave in and her family said goodbye to their sweet daughter forever. Because Alex decided to hold on for years, doctors were able to eventually figure out that she suffered from an incredibly rare form of ALS, or Lou Gehrig’s Disease. Only a handful of cases with an onset this early had been discovered. The family had no choice but to slowly pull their life back together and remind themselves how grateful they were that Jaci had been spared. She grew to be a woman of twenty-five who was constantly on-the-go, and whose love of horses and adventure gave her renewed energy and life.

 
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Out of nowhere, this past winter, Jaci began experiencing the same devastating symptoms that her sister had battled many years before. How could this be? Identical twins, both with the same form of ALS, but symptoms fourteen years apart? No one had an answer, but reality hit. Jaci tested positive for the same genetic disorder that had ripped her sister’s childhood and life away from her. With no cure or treatment for ALS, she will soon find herself trapped in her own body, unable to move, eat, speak or breathe. This cruel disease would allow her mind to stay strong, her thoughts to remain clear, making her remaining short life unbearable and full of fear.

Before walking into the apartment that day, I had flipped through articles from Iowa newspapers telling Alex’s story, then Jaci’s. I watched two little identical red-haired girls learn to walk, ride their ponies, and look at each other and laugh. As I read on, only Jaci appeared in the photos, her bright blue eyes shining. I watched her continue to grow, always outdoors, standing in fields of horses and cows where she was happiest, her head turned back to look at the camera, her face beaming with life.

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Now, here I was, standing in the entryway of her family’s rental apartment in New York City. I stood back and took another breath as I walked around the corner to where Jaci sat in the living room waiting for me. In just the past six months, this outgoing young woman at the height of her life had rapidly lost her abilities. This past Christmas, she was any other girl. But just a few months later she was only able to take a few steps with her parents’ help. And now she was confined to an armchair. Earlier this spring, she could barely use her arms to dress herself, feed herself, and grab what she needed. Now her arms lay limp in her lap, her fingers slowly lifted and fell to push the buttons on the remote to the TV in front of her. The armchair she sat in was reclined to keep her in a comfortable position. An automated lift was parked in the hallway behind her.

 
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I leaned down at an awkward angle and gently slid my hands between the chair and her back to hug her. I had fought off my tears all morning, but I could no longer hold them back. I let my emotions go and sobbed into her red hair as I held her, her arms laying still on her lap. The room was silent. As I pulled away from Jaci, I looked into her bright blue eyes filled with tears and we both smiled. I told her how honored I was to meet her. She pulled the muscles in her jaw back and her lips followed. She took a short breath and said hi. Her breathing was now compromised. A breathing machine sat next to her chair. But her speech was still perfectly clear. I could see that she had adapted to her new way of talking, taking small breathes before each sentence or word.

We sat and talked. She told me about her long-time partner, her horse Bud. She excitedly asked her mom to show me the photo of her from last Fall when she finally mastered standing up on her saddle, tall and steady as Bud held perfectly still. I looked down at her legs that lay across a pillow on her chair, not moving.

 
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My mind had been on this moment for the past ten days and now I was sitting with this incredibly brave girl who was following in Mila’s footsteps. As Jaci prepared to die, just months after experiencing her very first symptoms, something amazing happened. A foundation the family had been in touch with – Project ALS – came across Mila’s story. They learned about Milasen - the antisense oligonucleotide, or ASO, which had been designed and produced just for Mila - and they read about the promise that it offered. They teamed up with a scientist in New York and together they asked themselves, “why couldn’t Mila’s approach be applied to Jaci”? It offered promise, and otherwise Jaci had no hope. The sand in her hourglass was running out quickly. Jaci’s team raced to produce an ASO for her, as she was losing abilities by the week. Just as it looked like time would run out, the work that Dr Yu and I were doing behind the scenes to pave this new treatment path directly expedited Jaci’s treatment.

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Last week, Jaci and her parents traveled to NYC and she became the second person in the world to receive a rapid turnaround genetic treatment, following in Mila’s footstepss. She too has been given an incredible second chance at life.  

I left Jaci’s apartment that day full of hope.

What initially seemed like a crazy notion has transformed into an exciting new paradigm in the world of science and medicine. With Mila’s story, Dr Yu and I have challenged the world to imagine a future where instead of one drug that treats thousands, there could be thousands of drugs that each treat one person or just a few – children and adults that otherwise have no hope, no treatment, and no attention from large pharmaceutical companies. Individually, they could seem too small to some to make a difference. But together, the impact would be enormous.

Mila was the first. Her story has broken ice. It proved that an individualized genetic medicine was feasible and could save a life. And the time from diagnosis to treatment could be incredibly rapid, less than one year – something unheard of in drug development that takes on average an overwhelming twelve years. It is still too early to know whether Mila and Jaci’s treatments were in time for them, but what we learn from these two amazing pioneers, fighters, will help us define a new process and eventually scale it to help exponentially more people in desperate need.

I envision a future where the Mila’s and Jaci’s of the world walk into rapid customized treatment centers within hospitals around the world - at first, maybe one out of ten will walk out with a treatment in time to stop their disease progression and give them a chance at life. However, as science and technology quickly advance, more tools will be added to the genetic toolbox and then three, five, eight out of ten people who walk into a center will be given another shot. Farther in the future, I imagine newborns screened at birth who can access a personalized treatment that would stop their disease before symptoms ever begin. These families would never know the devastation of Batten or ALS.

There are now two dots connected by a line. Our fight for Mila has already given one more girl an unheard of second chance at life. We keep pushing forward and continue drawing the line…

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The Crystal Ball

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Eight months ago, Mila began a first-ever genetic treatment. We were entering unknown territory. We knew nothing could be worse than the trajectory of her disease, and could only hope that it might stop the degeneration. With her diagnosis of Batten just one year earlier, I felt I was handed a crystal ball that would show the remainder of her short life. I wanted to throw that ball as far away as possible. But it grew around my hands and wrapped around my fingers. My eyes were forced open, forced to look inside and see my daughter growing older, losing every ability and happiness she had known. I saw her propped in a wheelchair by day, lying limp in a bed at night. Her weak neck supported, a feeding tube tucked under her shirt. Her body shook with constant seizures. Her head tipped back, her mouth fell open, and her stare was blank. A schedule of medications taped to our fridge, a Do Not Resuscitate letter nearby.

The crystal ball showed me the life of a child with Batten, of the many children that came before Mila, and of those that were still fighting this horrible disease today. I saw countless doctor’s appointments, rushes to emergency rooms and long hospital stays. I stared at MRIs of rapidly shrinking brains. I saw mothers and fathers lifting their children from their beds, into chairs and out of cars. I felt the strain in their backs and arms, the pain in their necks. I sensed the confusion and anger in their marriages. I heard their tears awaken quiet bedrooms in the middle of the night.

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I continued watching as little sisters and brothers yearned to be heard, their simple childish joys often ignored by their families in moments of exhaustion. Their concern for their siblings was so genuine, their love for them so pure. The pain spread like a river across grandparents, aunts and uncles, cousins and communities surrounding them.

Despite this darkness, I noticed these families managed to adapt to their new realities. I saw how ever present they were in their lives, how much they appreciated every day, every moment with their children. I saw a brother grab his blind sister’s hand and rub it on the bark of a tree. I saw a mother nuzzle noses with her son on her lap. And a father snuggle into bed with his kids as he slowly read their favorite story. I saw smiles. I heard laughter. But the pain was always there.

I saw Mila’s future.

And I knew that I had to fight with everything in me to change the story unfolding in her crystal ball. I put sleep, fear and embarrassment aside to somehow put scientists and companies together, to raise the enormous amount of money needed to fund their work, and constantly remind everyone of the urgency. Somewhere along the way I paused. I faced something I had continually pushed away - the realization that my fight might not be in time for my sweet Mila.

Then my path crossed with a Boston scientist and the stars aligned. Mila was given unexpected hope. What started as just an idea, turned into a race against time that took us through late nights, weekends and holidays on a mission to stop Mila’s disease. He built an ever-growing team of more scientists, doctors, institutions and companies around the country and abroad to make a treatment happen in record time. No one stopped to take a breath. They designed an entirely new drug targeted at Mila’s genetic mutation, tested it in the lab and in animals, produced it, and finally got approval to proceed with her treatment. All in one year.

This past January, we moved our family to Boston with a fear of the unknown ahead of us, and a hope we never imagined we would be allowed to feel. As soon as the hospital received the drug, the team was ready and waiting for the first injection. Every day mattered. Mila had already lost her vision and her ability to talk. Her barely noticeable seizures had just exploded a few months before and grew to thirty per day that lasted minutes, arms and legs moving violently. Her swallowing was getting worse by the day. Her body was slumped and she could no longer sit up alone. Her legs were giving out when she stood or walked. But none of these regressions compared to watching her little light start to go out. We were losing the Mila that we knew and loved. Her brain was atrophying, and with it her awareness of the world around her, her smile, her laughter.

Today, Mila is eight months into her treatment. People ask me how she’s doing and I have to admit that it has been hard to find the right words to answer. Friends and family ask in excitement if she’s better now, if she’s been cured. They dream of a day when life will return to normal. But it’s not that simple. Batten disease affects every part of the brain and body. It’s unbelievably complicated and still very un-understood. And Mila had lost so much before her treatment.

Before responding, I try to stop and reflect on how Mila is that day. Not yesterday, or what I hope for tomorrow. But today.

No matter the answer, one thing seems to be clear so far - her rapid downward slope has stopped. Something I had thought would only happen in my dreams. And some abilities have improved. She now stands tall and upright. She can sit crossed-legged alone on the floor without swaying or falling. Her legs no longer give out when walking and she climbs the stairs with alternating feet, still with full support. Her seizures have greatly decreased in number and generally last only a few seconds. Instead of arms and legs flailing, a short giggle. Her swallowing has improved and she’s able to enjoy her meals. And her hands will occasionally tap the table and feel for objects now that they aren’t so tightly clenched. But what has brought me the greatest joy is seeing my Mila again. She is alert more often and responsive to the world around her. She follows her favorite stories with expression on her face, gets excited and laughs out loud when a dog licks her hand, and smiles when her brother comes up with funny words.

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Not every hour and every day looks like this. There are times when everything is harder for her - her body leans to one side, her feet drag on the floor, she doesn’t respond to what usually makes her smile. My heart still soars and sinks. I still have no idea what tomorrow will bring. And I am now faced with the incredible challenge of rehabilitation of the skills she has lost.

 
 
 

But despite all of this, Mila’s treatment has given her real HOPE.

I look back into the crystal ball today and Mila’s story looks different.

 
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With the incredible hope Mila has been given, I have realized that Mila’s life truly has a greater purpose than we had ever imagined when she was born. She isn’t just our sunshine. She is a little ray of light, a little spark, for everyone. Mila’s treatment is allowing me the chance to ensure that her spark will ignite others, and one day soon there will be a bright light where there was once just darkness. Not just for Mila. Not just for Batten. But for the millions of children around the world with devastating genetic diseases.

I will keep fighting…

-Julia, Mila and Azlan’s mommy

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This Empty House is Full

 
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I give the front door a push with my hip as I turn the key in the old lock. The door opens with a pop, the dried paint coming unstuck from the door jam. I stop for a moment and look into the front hall, empty, just as we had found it when we first moved in, when I was pregnant with Mila. The emotions from eight years earlier came rushing over me. The excitement of actually owning our first house. The charm of the 1930s high ceilings, curved moldings, large old windows with imperfect glass. The cracks on the walls, the space between the pine floorboards where cool air came up from the crawl space below, the tiny bedrooms that barely fit a queen bed. But it was ours and we were moving in just as we expected to have our first child.

Time has passed and now I walk through the same front door with tears streaming down my cheeks. Today is our last day to breathe in the memories we created in this old house. The house where Mila and Azlan came home to when they were born. Where they took their first steps and spoke their first words.

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Two years ago, we decided living in downtown Boulder no longer made sense for our family given that Mila’s needs were changing. We yearned for quiet, for more open space for Mila to move around the house, for the views and sounds of nature that so naturally calm us. Riding bikes around town as a family wasn’t in the cards for us any more so we gave that up for a more rural, peaceful setting. The trails and swimming lake by our new house allowed us to spend our free time nearby without having to get in our car, something that was becoming harder for Mila.

But we always dreamed of holding onto our cozy old house and renting it until we decided to move back in. But with our family's new reality, we realized we needed to simplify our life, and concentrate on today, not tomorrow. So we put our house up for sale, and then my focus switched to taking care of Mila and Azlan. I never found the time to reflect on what it meant to lose this house so packed full of memories... until now, on the eve of saying goodbye to it forever.

 
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I decided to come to the house alone, one last time. To make peace with the fact that we would not bring our kids up in this home like we had imagined. Since Mila’s diagnosis of Batten Disease, material items have little meaning to me. It’s the emotions, adventures and memories that really matter. But today I’m struggling with accepting this and saying goodbye to the house that holds the best memories of my life. 

I walk through the tiny front hall surrounded in old glass windows, through the french doors and into the living room. I smile as I cry remembering little Mila scooting along the fireplace before she learned to walk, and how she use to climb up onto her little toy kitchen and sit on the very top, beaming with pride as she turned to make sure we noticed her accomplishment. I remembered our first Christmas in this house, cradling little newborn Mila in my arms as I danced around the tree in the back corner of the room.

 
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I walked through the empty living room and into what was our TV room. I laughed to myself thinking of Mila attentively watching Plushenko skate in the Olympics on the big screen above her and trying to mimic his moves. She twirled around the room, dropping her head and lifting her leg high, then sitting on the wood floor she spun around and around. Extending off the TV room was the kids' small playroom, surrounded in glass windows with sunlight streaming in. I remembered Mila standing behind her little grocery store in the corner of the playroom, tapping on a plastic cash register and selling vegetables to tiny Azlan who stood facing her with an orange purse over his shoulder. 

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I climbed the steep stairs and stepped onto the landing. I thought back to when I stubbed my toe at the top and dropped to the floor in pain. Before I knew it, my 9-month-old little girl had scooted across the floor, climbed up on my lap and kissed me on the cheek. My pain disappeared. In that moment, Mila transformed in my mind from an infant to a little person. Her innate empathy and wide smile gave me a glimpse of who my Mila would become.

 
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I moved into the nursery that was Mila’s and then Azlan’s. I use to run in and out of the room making a new animal sound each time. The kids would jump up and down in the crib, laughing uncontrollably. Two owls sat on a tree hovering above Mila's bed. She would peel each branch decal off the wall, and I would stick it back on. The game continued until only half the tree remained.

I walked next door to my and Alek’s room, with the big glass doors that opened onto our deck. I closed my eyes and remembered the kids splashing in their blue plastic pool on hot summer days. And before bed, we would cuddle up on the couch and say goodnight to the trees and the squirrels, the mountains and the moon.

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I made my way around the house, taking time to stop in each room and allow myself to travel back in time and remember not just the images, but the emotions that followed. Every little corner of our home held a beautiful memory. 

When I passed the doorway to our kitchen my heart stopped. On the left side of the door jam were black marks showing Mila’s height at each birthday - one, two, three, four, and five. On the right side were the marks for Azlan - one and two. I ran my hands over the lines. I dropped my head and squeezed my wet eyes tightly closed. The painter would be coming in a few hours to add a fresh coat of paint and cover up the lines that represented the best years of my life. Just three months after we moved out, Mila was diagnosed and our lives changed forever.

The house may have looked empty to a passer by, but through my eyes it was full, full of the memories that keep me going every day. When I walked into the house that day, I expected only tears and sadness. But when I left, I felt lighter. Reliving these moments made me cry, but it also brought smiles, even laughter, as I thought back to each one. I didn’t have to leave them behind like I had feared. I let these memories fill the house, one by one, until they piled into the rooms and pushed up on the roof. I brought this home so full of memories with me as I closed the door behind me, one last time.

- Julia, Mila and Azlan's mommy

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