An Experimental Gene Therapy Was Little Alissa’s Only Hope
Thomas Feldborg and Daria Rokina set off nearly every afternoon to explore this city. They leave from their hotel in the Charlestown neighborhood, pushing their baby carriage, some days heading deep into downtown, others choosing a path along the Charles River. Every few minutes, Rokina stops to peek inside and check on 16-month-old Alissa. She gently rubs Alissa's cheek and coos a few soothing words, making sure the little girl is warm enough in her yellow snowsuit and adjusting her sparkly unicorn earmuffs.
Thomas Feldborg and Daria Rokina set off nearly every afternoon to explore this city. They leave from their hotel in the Charlestown neighborhood, pushing their baby carriage, some days heading deep i...
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Burden of Proof: The Privilege of My Visible Disability
When I enter a room, my disability is always one step ahead of me. My powered wheelchair gives me nowhere to hide from the palpable intrigue hanging in the air, and I have perfected a sweet smile in response to the eyes that inevitably drift my way as I pass by. I tell myself it must be my cute outfit, but the reality is that having a highly visible disability defines my interpersonal life and is a lens through which I interact with the world around me.I exist at the intersection of society’s deeply embedded stereotypes about disability, my own internalized ableism and my identity aside from my diagnosis of Spinal Muscular Atrophy (SMA) — but the visibility of my disability means that the latter is forever framed by my four wheels.
When I enter a room, my disability is always one step ahead of me. My powered wheelchair gives me nowhere to hide from the palpable intrigue hanging in the air, and I have perfected a sweet smile in r...
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Community Connections: Khi Ellison Living With SMA
A Maumelle woman living with a rare genetic disease is sharing her experiences on her Youtube channel of what it's like living with a disability. She hasn't let it hold her back in any way and she hopes those online and the kids she teaches will see that anything is possible."Hey guys, it's Khi. Welcome back to the channel. How are you doing today,” 24 year-old Khi Ellison said as she started a video blog from her home. “Some of you may or may not know that I’m in a wheel chair."She said her goal is to show others what life is like for her, brining not only awareness, but normalcy."I basically just document my life with SMA and try to show people that just because I’m in a wheelchair and I am disabled that I’m not any different than you are,” Ellison said. SMA stands for Spinal Muscular Atrophy, a rare genetic disease affecting the body's muscles. Khi can't walk, she sleeps on a ventilator, does breathing treatments and takes an at-home treatment for SMA called Evrysdi."I've gained more stamina and definitely more fine motor skills,” she said. Through all of her difficulties she continues to achieve.
A Maumelle woman living with a rare genetic disease is sharing her experiences on her Youtube channel of what it's like living with a disability. She hasn't let it hold her back in any way and she hop...
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Every Day You Don’t Lose, You Are Winning
Jennifer Summers, 35, is an optimistic, articulate woman. She enjoys crafting, spending time with her close-knit family, and leading small groups and organizing volunteers at her church. And she is excited that she can carry a 32-ounce water bottle. This may not feel like an important feat to some people, but it's momentous for Jennifer and others diagnosed with spinal muscular atrophy."At that time, there were no treatments available," says Jennifer. "We focused on managing the complications of nerves and muscles dying and getting adaptive equipment."
Jennifer Summers, 35, is an optimistic, articulate woman. She enjoys crafting, spending time with her close-knit family, and leading small groups and organizing volunteers at her church. And she is ex...
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Hiring Good PCAs – Muscular Dystrophy Association
Living as an adult with a disability means trusting other people to assist you with daily tasks, some of which are intimate or make you feel vulnerable. How you approach hiring personal care attendants (PCAs) to perform those caregiving tasks is a personal choice.Some people prefer to use a home health agency, which streamlines the process of getting qualified caregivers. Others prefer to find and hire PCAs privately, which allows them control over every step of the process. This method takes commitment, but some people find it worth the effort.Here, two individuals living with spinal muscular atrophy (SMA) share their experiences and tips for finding and hiring PCAs on your own.Finding good PCAs:Alexa Dectis, 29, lives in Los Angeles, far from her family in Pennsylvania. She currently has 15 caregivers who provide care 16 to 18 hours per day, which allows her to live independently and work as an entertainment lawyer.
Living as an adult with a disability means trusting other people to assist you with daily tasks, some of which are intimate or make you feel vulnerable. How you approach hiring personal care attendant...
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Living With SMA Can Challenge the Health, Stability of Married Couples
In 2010, I married the love of my life. My husband at the time had joined the Marine Corps and was stationed in North Carolina. Even though it was 700 miles away from our family and friends, we were excited to venture out together as newlyweds. What we weren’t aware of, or prepared for, was the several denials from insurance companies for in-home care.Prior to getting married, we were told we wouldn’t have any issues getting the care I needed. We felt confident in what we were told and began the process immediately upon arriving in North Carolina.
In 2010, I married the love of my life. My husband at the time had joined the Marine Corps and was stationed in North Carolina. Even though it was 700 miles away from our family and friends, we were e...
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Madison’s SMA Story
Madison was born both happy and healthy. For six months, everything was perfect. And then I noticed she wasn’t using her baby walker or bouncing in her bouncy seat anymore. She had stopped bearing weight on my lap when I stood her up—nor was she able to hold a crawling position. I brought Madison to the pediatrician, who told me she was just delayed, maybe even a little lazy.This didn’t sit well with me, or ease my mind in any way, shape, or form. I hadn’t acquired years of experience as a mother of three for nothing! Not to mention, I had been a single mom for five years! A month later, I went back to that practice and asked to see a different pediatrician. She considered my concerns and guessed Madison’s leg might have been dislocated.
Madison was born both happy and healthy. For six months, everything was perfect. And then I noticed she wasn’t using her baby walker or bouncing in her bouncy seat anymore. She had stopped bearing w...
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My Patient Story: Amanda
My son was diagnosed with Spinal Muscular Atrophy (SMA) at about two months of age. He wasn't hitting milestones and when I mentioned it at this one month check up, his pediatrician pushed it off as he was a lazy baby. I thought his issues may have been related to complications during birth. I had a high risk pregnancy and his delivery was troubling, forceps had to be used. Looking back I know that was due to his muscle weakness. This is my second child and he completed our family.
My son was diagnosed with Spinal Muscular Atrophy (SMA) at about two months of age. He wasn't hitting milestones and when I mentioned it at this one month check up, his pediatrician pushed it off as h...
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Patient of the Month: Gianna
After noticing that her daughter was unable to crawl, stand, or do the things her friend's children were doing at six months of age, Idalmis decided that it was time to seek help. Sure enough, after some consultations and genetic testing, Idalmis' gut feeling was right. Her baby girl, Gianna, was diagnosed with spinal muscular atrophy type 2 (SMA2), a genetic neuromuscular disorder that affects the nerve cells that control voluntary muscles (motor neurons). Without treatment, progressive muscle weakness develops in babies with SMA2 between ages 6 and 12 months.
After noticing that her daughter was unable to crawl, stand, or do the things her friend's children were doing at six months of age, Idalmis decided that it was time to seek help. Sure enough, after s...
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Sofia’s Story – Johns Hopkin’s
On the morning of Friday, Aug. 23, 2019, a newborn lies in her father’s lap at Johns Hopkins Home Care Group in Dundalk, Maryland. Her curious eyes peer up at the sea of rainbow scrubs and the wide smiles of nurses and staff around her. “Sofia, Sofia,” they say, wanting her attention as an infusion technician at her side pushes a blue button on a panel, releasing a revolutionary new therapy intravenously through a vessel in her arm and triggering applause. Sofia’s face remains pink and animated, but her arms beneath a turquoise blanket are stone still at her side, her legs seemingly lifeless, signs of the neuromuscular disease that began afflicting her before birth.
On the morning of Friday, Aug. 23, 2019, a newborn lies in her father’s lap at Johns Hopkins Home Care Group in Dundalk, Maryland. Her curious eyes peer up at the sea of rainbow scrubs and the wide ...
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Special People Enter Our Lives at Unexpected Moments
We all experience moments that change our destiny. For me, it might have been learning whether I had passed a major college exam. For others, it might be the moment their partner responds to a marriage proposal.We often anticipate this type of life-changing moment. But what about unexpected moments? Of course, there are the terrible examples, such as the sudden injury or death of a loved one. I pray you never have to go through that. But today, I want to talk about an unexpected event that changed my life for the better.
We all experience moments that change our destiny. For me, it might have been learning whether I had passed a major college exam. For others, it might be the moment their partner responds to a marriag...
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What It Is Like to Have a Rare Disease. How Clinical Trials Changed My Life?
When I was about 1, I started walking with a stiff gait and stumbling quite a bit. Soon after my parents noticed that I stopped meeting childhood milestones. Worried, they took me to the doctor to learn more. A month before my younger brother was born, my parents discovered why I struggled: I had SMA and it was ultimately a fatal condition.At the time, there were no real treatments and little research being done on SMA. My parents felt devastated and hopeless. But they turned their fear into action and helped create the SMA Foundation to fund research and encourage better treatments.
When I was about 1, I started walking with a stiff gait and stumbling quite a bit. Soon after my parents noticed that I stopped meeting childhood milestones. Worried, they took me to the doctor to lea...
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When Getting the Right Diagnosis Is Half the Battle
Looking back, there were little signs. Not being able to push up into the crawl position. An unwillingness to bear weight on her feet when held in a standing stance. A diminishing appetite. Ironically though, the biggest tip-off that something was wrong with eight-month-old Quinn wasn’t one of these typical milestones seen between the six- and nine-month check-up or outlined in any parenting book. “She would do this little jiggly dance when she was lying down that I’d never seen before,” recalls her father, Joe Wiseman. “It was this kind of floppy move. None of her three older siblings had acted that way.”
Looking back, there were little signs. Not being able to push up into the crawl position. An unwillingness to bear weight on her feet when held in a standing stance. A diminishing appetite. Ironically...
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Trusted Resources: Community Center
Online groups, photo galleries, and blogs
An Interview With Muscular Dystrophy Association President Donald S. Wood
Innovation in Child Neurology: Acadia’s Head of Rare Disease Shares What It Takes to Make a Breakthrough
Why Texas Added Spinal Muscular Atrophy to Required Screenings for Newborns
An Experimental Gene Therapy Was Little Alissa’s Only Hope
Burden of Proof: The Privilege of My Visible Disability
Community Connections: Khi Ellison Living With SMA
Every Day You Don’t Lose, You Are Winning
Hiring Good PCAs – Muscular Dystrophy Association
Living With SMA Can Challenge the Health, Stability of Married Couples
Madison’s SMA Story
My Patient Story: Amanda
Patient of the Month: Gianna
Sofia’s Story – Johns Hopkin’s
Special People Enter Our Lives at Unexpected Moments
What It Is Like to Have a Rare Disease. How Clinical Trials Changed My Life?
When Getting the Right Diagnosis Is Half the Battle
Caregiving for a Young Adult With SMA
Empowered by Possibility
Let’s Start From the Beginning
Why I Fought to add SMA to the Newborn Screening Panel
mySMAteam – Facebook
SMA Angels Charity – Facebook
SpinalMuscularAtrophy.net – Facebook
The Gwendolyn Strong Foundation – Facebook
SMA My Way – Instagram
SpinalMuscularAtrophy.net – Instagram
The Gwendolyn Strong Foundation – Instagram
Together in SMA – Instagram
SMA Foundation – Linkedin
The Gwendolyn Strong Foundation – Linkedin
SMA Foundation – Twitter
SpinalMuscularAtrophy.net – Twitter
The Gwendolyn Strong Foundation – Twitter
Living With Adult Spinal Muscular Atrophy
SMA Treatments and Continuing the Fight
Dealing With Spinal Muscular Atrophy: Guide to Connecting With Disability Living: Dealing With the Social Life
Dying to Live
Spinal Muscular Atrophy: (2nd Ed.)
Access to Education: K-12
Co-Pay Relief Brochure
Spinal Muscular Atrophy Co-Pay Relief Program
Spinal Muscular Atrophy Patient Assistance Fund
Zolgensma CopayAssist Program
5th Annual Night at the Races
Equipment Donations at SMA Clinic
Andrew “Sparky” Seever Scholarship
Jack Scura Fund
PATH-WAY Providing Access to Happiness Scholarship
Ryan Hawn Memorial Scholarship