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    What Does Advocacy Look Like?

    Sometimes we search for how we can make a difference. It can be intimidating to get started. What would I do? Would anyone listen?

    We've recently been reminded that advocacy doesn't have to be earth-shattering to make a real difference in the lives of a few and inspire a larger group to get involved. Dana Perella's advocacy began when she wanted to save the life of her friend who was battling #BattenDisease. A couple of years later and Dana's truly impacted the #RareDisease community.

    globalgenes.org/rare-champion-of-hope-awards

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    Community Voices

    Global Genes® Celebrates World Rare Disease Day February 28

    Global Genes®, a leading rare disease patient advocacy organization, launches into a month-long observance for World Rare Disease Day, recognized globally on February 28 to raise awareness for the rare disease community of more than 350 million people worldwide.

    Shining light on rare patients and caregivers around the world, Global Genes takes this opportunity to share one family’s journey of hope and discovery. Seven-year-old Taylor’s diagnosis of infantile Batten disease in 2006 was grievous, but always with hope, they founded Taylor’s Tale and joined the Global Genes RARE Foundation Alliance. There, they found connections, resources, knowledge, support, compassion, all of which have helped them achieve groundbreaking victories.

    Taylor is 1 out of 10 Americans who are affected by . Global Genes wants to remind everyone on World Rare Disease Day and every day, rare is not so rare.

    “It has been an honor to become intimately involved with patients, advocates, families, and stakeholders over the past 10 years," stated Nicole Boice, Founder of Global Genes. “The culmination of the ongoing work that has been done to help build 'community' and 'unity' within comes together in a very important way the last day of February for World Day; celebrated around the globe.”
    "Global Genes will continue to be involved in activities like World Day, as part of our strategy to expand awareness efforts,” Boice continued. “Over the last decade, we have established ourselves as a true partner for patients, and as such have been able to grow our network, and build on our impact, with the intention of continuing to expand our engagement globally. We are motivated about what we can and need to accomplish 10 years hence."

    To get involved and raise awareness for more than 7,000 rare diseases during the month of February:

    Rally for rare. Visit globalgenes.org to download and print the #CareAboutRare sign, take a selfie and post on social media with #CareAboutRare and #WRDD2019. Tag a friend and challenge them to #CareAboutRare too.

    Attend an event. There are countless events, fundraisers and exhibits during World Day. Host or take part in an event and share the details with us.

    Wear Blue Denim. The Blue Denim Jeans Ribbon® is a symbol of hope for more than 7,000 small communities around the world. Wearing a denim ribbon shows support for World Day. Ribbons may be requested on globalgenes.org for local events, the workplace, school clubs, etc. Don’t forget to wear blue jeans and a denim ribbon on February 28!

    To learn more about Global Genes and to get involved in World Day 2019, please visit globalgenes.org/world-rare-disease-day

    Parenting a Child With Batten Disease and Experiencing Isolation

    I just flipped through Billabong’s Spring Catalog. It made me smile; I felt so light. I wanted to jump into the pages and onto the surfboard, dive through the waves and feel the saltwater on my face, the blazing sun on my skin. I wanted to be that 20-year-old girl walking through the streets of an island town, alone, with a wicker bag over my sunburned shoulder. I remember those days. So carefree. The feeling rushed through my body. I longed for it. We haven’t been on a vacation in forever. Our last trip was to the Bay Area about nine months ago for an intensive neuroplastic therapy for Mila. Not exactly vacation, but we made it fun. Now I craved going to the beach and playing in the waves with my kids—splashing and laughing. Then my heart sunk, like it often does these days. We could go on vacation, but how much of a toll would the flight take on Mila? The risk of getting sick from coughing passengers could have serious repercussions. And getting to the rental car and driving an hour or two to our condo seemed like too much. Trips wipe out Mila for days. And the noises of normal life are so loud and overwhelming for a child with Batten disease. You can control the volume in your own house, but not on airplanes, in restaurants, or at beaches with crashing waves. Since Mila’s diagnosis of Batten disease, I sometimes feel like there’s a glass wall between me and the rest of the world. From the outside, it feels like we’re all in the same room — grocery shopping together, strolling down the street together, having a play date snack together. But I don’t feel like I’m in the same world. I see the pane between us. I hear my voice bouncing off the glass. Life around me seems so frivolous, moving along as if nothing happened. Just the other day I met a mom of a 5-year-old girl with a terminal illness. When I sat with her on my couch, crying about my life and sharing experiences and thoughts, I felt for the first time that she was in my room. There was no glass wall that divided us. I didn’t know her, yet our common life and our common pain, was a stronger bond than I had imagined. She told me she was training for a marathon, that she had been a serious runner years ago and was just getting back into it. But the pain that came with running alone, staying in your head for hours on end, made running less enjoyable and more of a goal to simply get home to her daughter as fast as possible. I could instantly relate. It felt comforting in some strange way. These days, I don’t leave my house for more than an hour or so to run errands. But the other day, I had to drive to south Denver, and the three hours in the car started with a feeling of liberation, but soon turned to a longing for Mila and Azlan. I just wanted to pull out of the traffic into the emergency lane, and speed back to my house as fast as possible. I hated being away from them. When I lie in bed at night, with my back pushed up against Mila’s warm little body, I realize there’s only one place I want to be — with my kids. I still get tired by the end of the day, like every parent who stays at home with their kids, but I can never get enough of them. The way I laugh with them when we play, the way I feel their energy through my hands when I rub their backs, the way I breathe in their life when I pull my face close to theirs as they fall asleep — it’s something I’m not sure I ever would have been able to experience if it weren’t for our reality. It’s a little gift in the midst of the darkness that surrounds us.

    Parenting a Child With Batten Disease and Blindness

    Mila was diagnosed with Batten disease just before Christmas 2016. Holiday festivities were not on my mind, but at some point I remember gathering the strength to look for a few gifts for the kids. When I walked through the door of our local toy shop, I stopped and looked out across the sea of colorful dolls, stuffed animals, train sets, bouncy balls, kites, backpacks, and shelf after shelf of books. My lips pursed, shaking, and my eyes burned. I wanted to turn around and leave right away. I tried to take a few deep breaths to stop the tears from streaming down my cheeks. But it didn’t help. I left my sunglasses on and walked over to the woman behind the counter. “Do you have any recommendations for toys for children who have a hard time seeing… actually, who can’t see?” I avoided using the word blind. She paused and thought. Then she asked, “For what age?” How do I respond to that? Mila is 6, but she couldn’t play with a toy created for most 6-year-olds. The woman showed me a small stuffed animal that made noises when you squeezed it, an iPad look-a-like with big colorful buttons that made loud noises mimicking the images above them, and a spiky teething toy to grab onto. She gravitated toward the baby section with toys to shake and rattle. I chose a few and a remote-control car for Azlan, my son, and checked out. Just before walking out the door, I stopped and turned around. Kids were running around the store, shaking boxes and leaning over books. Suddenly, this same store I had brought Mila to since she was a baby seemed like a different place to me. I felt like an outsider. That day I decided I would try and help Mila reinvent the way she “saw” the world. Losing her vision was only one of her many battles, but it was one that seemed to deeply impact what she could and couldn’t do. I was heartbroken that Mila couldn’t see what was around her, but I also knew she could experience the world through her other senses which were working well. I closed my eyes and started to discover what brought me happiness when vision is gone. The sounds around me were louder; I analyzed them more. I craved movement and touch. So, I started there. Shortly after, a kind stranger who read our story in the local paper offered Mila weekly piano lessons. The timing couldn’t have been better. Every Wednesday, we would knock on the apartment door and Mila would shake in excitement as soon as she heard Sarah’s voice. She knew what was coming. We would start by sitting on the floor while Sarah played Chopin and Beethoven. Mila would smile and her eyes would light up at the stimulating and soothing sounds of the classical music. Then we helped Mila to the piano and she would rub her hands over the keys, slowly pushing one finger down at a time and listening to the sounds she was making. “Big” Sarah would say in a high voice as she placed Mila’s hand on the white keys. “Small” she would say in a deep voice as she moved her fingers to the black keys. Then she would place her long fingers over Mila’s small hands and play “A, B, C, D, E, F, G…” I watched as Mila learned to rely on other senses to take in the world around her. The goal was not to learn to play the piano, but simply to learn that you can make music using your hands and to take in the beauty of music through your ears. At home, I cleared out our playroom and filled it with large squishy blocks, beanbags, and oblong therapy balls. We hung a small platform swing just a few inches above the ground for Mila to climb onto. An old Pack ‘n Play was filled with plastic balls. Some days we would pretend the floor was lava and we would fly away on our swing to a magical land. Other days the blocks were castles. “Quick, we have to escape from the dragon!” I would say as I encouraged Mila to reach out to feel the foam steps in front of her. She would lift her knee up onto the block and pull her body up while Azlan dove headfirst into the beanbag. The kids would hide under the colorful balls in the pit and Azlan would bury stuffed animals for Mila to find with her hands. Together, we would climb and roll and swing and feel the world around us. But how could I simulate movement when Mila’s walking was slow and calculated? Just as I was thinking of ideas, a kind woman offered Mila the gift of hippo therapy—a perfect opportunity to feel movement through the natural and soothing gait of a horse. Mila would be helped up onto the high back, only a blanket between her and the horse. The instructor would guide Mila’s little hand up onto Boo’s soft wintery coat, then ask her to say, “Go!” The horse would walk into the ring and Mila’s little white helmet would bob up and down to the rhythm of the gait. Mila’s smile would spread wide as she giggled in delight. Today, I still close my eyes often and try to feel what it’s like to be in Mila’s world. Instead of the sadness I used to feel, I now feel the power of sound, touch, and movement. I still have much to learn and share with Mila, but my initial sadness has turned to opportunity.

    What Its Like to Parent a Child With Batten Disease

    When Mila was a baby, I remember feeling like she and I were one being. She nursed until she was two, she slept in bed next to me for the first six months of her life, and I carried her on my body almost everywhere I went. But there was something even greater than the physical attachment. When she was excited, I was excited; when she was fussy, I was fussy. It felt as if she were an extension of my body and my mind. As she grew older, I felt her detach and become her own person with her own personality and her own interests. When she started preschool around two, I would watch her slip into her own little world, independent of me. It felt strange at first, especially since I had been at home with her, by her side every step of the way. But it also felt right, part of the natural process of growing up. During this time, she was drawn to friends at preschool like a magnet. She decided splashing in puddles at the end of our block was more fun than making it to the playground. She found her favorite muddy nooks to play in at the farm in the summer. And singing the words to Puff the Magic Dragon and Rudolph the Red-Nosed Reindeer never got old. She always wanted mango ice cream. And she insisted I include her in every story I made up — Mila became a princess and joined the royal ball, too! Mila and her mermaid sister found the underwater treasure! Mila grew wings and flew up into the sky with the fairies! But Mila’s independence only lasted a few years. As she started to stumble and fall, I spent more and more of my time by her side helping her up and spotting her at the playground. As she fell behind with drawing, cutting, picking up small toys, singing the alphabet, I sat beside her and helped. When she started to make a bigger mess at the dinner table, I pulled my chair closer to her and pushed her bowl under her chin and corrected her grasp of her spoon. Mila had just figured out how to push her strider bike and lift her feet when things took a turn, so I held onto the handlebars with her and let her feel the bike glide below her. Time passed and everything became harder for Mila. As she was losing her vision, she relied more on me to help guide her in busy outdoor areas. As her talking became more difficult, she needed me to stroke her arm and help encourage her to retrieve the correct word. As Mila’s walking became more unstable, she turned to me to help her up when she fell and place her hands on the stairs so she could climb up on all fours. I started to carry her when she was tired. In retrospect, I now realize that Batten disease was taking its toll on Mila. I would describe to her the cows outside her window when we drove past a field, or the fluffy white clouds like sheep in the sky when we took a walk. Her independence slowly slipped away. In the last few months I’ve realized that Mila and I are one again, as I help her along in life. However, the light inside is still uniquely Mila — radiating joy and strength. What gives my life purpose now is working towards a future where her light continues to burn as brightly as it can. We want to hear your story. Become a Mighty contributor here . Getty Images photo via ChristinLola

    Man Who Lost Child to Batten Disease Describes Her as a Superhero

    “It’s rainin’ but there ain’t a cloud in the sky Musta been a tear from your eye Everything’ll be okay” — “Waitin’ on a Sunny Day” by Bruce Springsteen Two weeks ago, I called my daughter, Ellie Mae, a s uperhero. I wasn’t referring to her as a Starfire– type character with the power to harness solar energy. She’s more like one of the X-Men whose mutant power, on this occasion, was an immunity to drugs. (If you’re not a comic book geek you won’t understand any of that!) A scene from “X-Men: Days of Future Past.” (Photo courtesy of Marvel and Twentieth Century Fox Film Corporation) Following a long period of epileptic seizures, she had three doses of rescue meds at home to sedate her and to try to break the cycle. At the hospital, she was given four more without success. After talking to the doctors, we agreed she was a superhero. “Hold her tight, Dad, I need to get this needle in the back of her hand.” That was to insert a canula. There was no time to numb the area with the usual array of magic creams. Just hold her tight. And they did it twice. My response was, “She’s had worse.” Because, of course, she has. She’s had more hospital visits and procedures than most of us. I’ve never had an overnight hospital stay, she’s had a lumbar puncture. There’s no competition against that in the superhero stakes. The doctor told us the issue may be her growing tolerance to drugs. As anyone with epilepsy will tell you, medication is a moving goal post. In the time they take to work, you get used to them and have to change medication. This one treats your hand tremors but makes you sleepy, that one makes you more alert but gives you hand tremors. It’s frustrating but acceptable. Last Monday, we were expecting to be given a change of drugs, maybe a course of steroids to break the cycle and then go home. Instead, we were told we had weeks rather than months or years left with her. I knew the doctor was wrong because we’d been told that children with Batten disease rarely reach their teens. I played it safe and decided in my mind that we had her until she was 10. At 10 years old, I’d start to panic, wondering if each day would bring some development we couldn’t get back from. But Ellie Mae is 6. Two days after going to hospital, we were told she probably had days rather than weeks. I shouldn’t have been surprised because even superheroes die. Superman, Batman, Spider-Man, Captain America, all the Robins, Flash, Daredevil, Green Arrow, Green Lantern and Phoenix (it’s every couple of weeks for this character). They’ve all succumbed at some point and some of them were pretty heroic, but they all chose their path. Yes, I appreciate that Daredevil didn’t ask to have toxic waste spilled on his eyes as a child, but he did decide what to do with the power it gave him. He could have chosen to just muck around the rest of his life. But Ellie Mae didn’t choose any of this. She accepted the disease when it first appeared and gave herself to tests and procedures, EEGs, lumbar punctures, MRIs, general anesthesia, local anesthesia, eye tests, swallow tests and hearing tests. And she dealt with it all with her usual cheeky manner; as Rod once told me, she was always the happiest girl in any room. Ellie Mae passed away at 10:30 on the morning of May 7. She was 6 years old and had been fighting Batten disease since she was 3. She chose to fight it in her own style, with little complaint and often seeming as if she didn’t have a care in the world. A princess and a superhero. Hard times baby, well they come to us all Sure as the tickin’ of the clock on the wall Sure as the turnin’ of the night into day Your smile girl, brings the mornin’ light to my eyes Lifts away the blues when I rise I hope that you’re coming to stay I love you to the moon and back. This post originally appeared on Cycle to the Circle. Want to help celebrate the human spirit? Like us on Facebook . And sign up for what we hope will be your favorite thing to read at night .

    I Held My Daughter, Sang and Cried at Disney World Breakfast Buffet

    The story begins in Disney World at the all-you-can-eat breakfast buffet (DWAYCEBB). How we got there is another story involving the finest colleagues you could work with, but that’s for another time. It was a normal breakfast. I know the DWAYCEBB isn’t normal, but the breakfast experience itself was normal for us. I was trying to eat, stop Caleb hitting people with Scar and avoid the Mickey waffles Ellie Mae was sharing. I wasn’t managing any of it. Ellie Mae was upset. That’s not unusual, she’s often uncomfortable and upset. She can’t scream and shout, and I’m sure if she could, we’d never hear the end, but she was crying. It was enough to disturb those near us, not to impact the whole restaurant. Lynsey comforted her but nothing was working and Caleb was restless. The biggest issue with Caleb’s mealtimes is his consistency. He only eats sausages, he’s consistent, unless he’s decided only to eat stuffing. This week he is eating potato waffles; I have no idea why. So for breakfast he’s having “tea” because waffles are “tea.” I think that’s all understandable. He won’t eat sausages with potato waffles, and he has to be watching “Planes” on his tablet and the TV or he wont eat either. Unless he’s watching “Ice Age” that day. The point is when enjoying the DWAYCEBB, Caleb isn’t the company you want. Once he’s finished his sausage, the meal’s over, and you’d better be ready to go. Lynsey took Caleb to get changed for swimming and I comforted Ellie Mae. Caleb likes swimming, unless he’s decided he doesn’t. I love singing with the kids. Our house isn’t filled with traditional kid’s songs. They’ve picked up a few at preschool but a bedtime sing-song is more likely to feature Bruce Springsteen or Taylor Swift. I’m thrilled Caleb has developed my love of Springsteen. When I first introduced him, “Booce” became Caleb’s word for music. I could sing anything if I said it was Booce, (unless it was “The Lion King”; Caleb knows everything from “The Lion King”). Over time he has developed some understanding and he now notices if I try to fool him with some Lyle Lovett. Ellie Mae is not bothered, but she enjoys a sing-song and I love singing to her. So we’re in Disney World, she’s upset, and I sang her a song: “I came by your house the other day, your mother said you went away” And then I realized that’s what happened; she went away. She walked to school on her first day, but five weeks later we took her in a wheelchair. She could count with you to 20 but then couldn’t get past three. Then she forgot our names. So I’m in the DWAYCEBB, Ellie Mae on my lap, singing a song and crying because she went away and there was nothing I could do. I doubt crying is common at the buffet. Maybe some regulars shed a tear at closing, but it’s probably not a frequent thing. But this morning, she recognized me. We sat on the sofa watching “My Friends Tigger & Pooh: Super Duper Super Sleuths,” which is what we watch if we’re up before Caleb. I put my nose to her nose and said, “Morning, gorgeous.” She looked at me and put her hands on my head. That’s a cuddle from Ellie Mae.  She’s always been the most loving girl and she loves a cuddle. She spat out, “Da!” and that’s enough for me. Who wants a chatterbox for a child? This post originally appeared on Cycle to the Circle. The Mighty is asking the following: Can you describe the moment someone changed the way you think about a disability or disease? If you’d like to participate, please send a blog post to community@themighty.com. Please include a photo for the piece, a photo of yourself and 1-2 sentence bio. Want to end the stigma around disability? Like us on Facebook. And sign up for what we hope will be your favorite thing to read at night.