Alexandra

In early August of 2019, at age 27, I started to notice a slurring in my speech and a sluggishness in my tongue. I described it as a feeling of “marbles in my mouth.” Others around me, even my then-fiancé, Joe, said they didn’t notice any difference in my speech. But I was sure something was wrong. A neurologist I saw in fall of 2019 ordered an MRI. When it came back normal, she said not to worry and sent me on my way. By that time, I was also experiencing some stiffness in my left leg, and I had an unexplained fall in the house. But it wasn’t until Christmastime when a nurse friend, home for the holidays, told me I should get a second opinion. I went with my fiancé to a different neurologist on January 17, 2020, an appointment that changed my life forever.

The neurologist immediately connected my slowed speech, leg pain, normal MRI, and lack of any other symptoms like trauma or disease. He gave me a preliminary diagnosis of what he called a “progressive neuromuscular disorder.” As a previously healthy 28 year old, I had really never considered that phrase before. What did it mean for my condition to be progressive? He told me some further testing would be needed, and that it would be best not to worry in the meantime. Of course, over the panicked next hours and days, it was all we could do to keep from Googling or WebMD’ing my symptoms and the medical jargon the doctor had used. My husband tried to insulate me from any research, or questions from family, about my tentative diagnosis. All we could do was hope that whatever the neurological and blood tests showed, it wasn’t ALS.

Over the next several months, I lived in a bizarre medical limbo. Doctors don’t like to formally diagnose neuromuscular disorders until months or even years after the onset of symptoms, allowing them to rule out other diagnoses in the meantime. The most anyone could say was that my loss of function in my tongue and mouth, and the stiffness in my leg, would continue and progress to other parts of my body. How quickly was anyone’s guess.

In July 2020, two months before my wedding, the results from an electromyogram, or EMG - a test of how well the nerves conduct electrical signals - provided my doctors with enough evidence to make a diagnosis of ALS. After a year of wondering what was wrong with me and what my life was going to look like, I finally had my answer. While I left that appointment in tears, I felt strangely relieved. The thing I was fighting finally had a name.

Now, almost two years after the onset of my symptoms, I have trouble walking long distances and rely on a walker outside the house. I can make myself understood when speaking, but I talk much more slowly and sometimes feel out of breath. Talking on the phone for a long time can be physically exhausting for me. At some point, I will need to start using a wheelchair and will need to rely on assistive technology to help me type and speak. But for now, I work full time. I drive, I swim and do physical therapy, I run errands, and I visit family and friends. I help take care of our two dogs and two cats (and, recently, six cats I fostered through a local rescue). I just completed a six month trial of an experimental drug (one of several) that researchers hope will be effective at slowing ALS’s symptoms, and am hoping to participate in another trial.

While my story is similar to many others, I have had one constant that not all of my peers with ALS share. Ever since my diagnosis, I’ve received complete and unconditional support from a strong network of colleagues, family, and friends.

Angelina
Diagnosed at 29

Gwen
Diagnosed at 32

Gwen

You know you are getting old when…

You age out of an under 35 group. And a group that so many others simply don’t know exists: that is, people under 35 living with ALS. How many of you have heard, “But you’re too young to have ALS?” And that’s how my own diagnostic journey began—with a strong sense of doubt and unreality hanging over my experiences.

I was diagnosed with ALS at 32 years old, but the prior 1.5 years of misdiagnosis has been the hardest part of the ride. I spent that time bouncing between doctors’ appointments and consistently not being heard. I was listening to my body, but no one was listening to me. It was easier for doctors to call my experiences “anxiety” and prescribe medications. They weren’t recognizing and acknowledging the truth of how my early symptoms were manifesting. I was frustrated, to say the least.

At one point during this period, my psychiatrist let me know that he was preparing to leave his practice. He referred me to a colleague he thought “would be a good fit,” but he also cautioned me that this colleague might not be accepting new patients. I was thinking, “Am I going back to square one?” Fortunately, the referred doctor did accept me as a new patient and so I came under her care.

Our first meeting started out with a bang (pun intended) … with me being wheeled into her office. I had just fallen while getting in the elevator. With my compromised balance, when something shakes, it’s game over. Teary-eyed and completely embarrassed, I explained that falls like this were becoming second nature, in fact, I was experiencing so many of them that I’d begun keeping a log. My new doctor said, “Let’s go into the hallway. I’d like to watch you walk.” She followed close behind me, at one point taking my arm, as I demonstrated my shaky stride.

I sat down in one of her armchairs. She looked me in the eye, and the first thing she said was, “You don’t fall from anxiety.” Right then, I knew I was in the right place. Later in our conversation, she said she was going to refer me to a neurologist, and this put me on the path, finally, to getting real answers.

What I learned from this experience is that you have to persistently advocate for the truth of what your body is telling you, and keep telling that story. If the answers you get don’t seem right, they’re probably not right. It took 1.5 years for my condition to be accurately diagnosed, and if I had not persevered, I might still have been one of the undiagnosed “You’re too young to have ALS” cohort. As it is, I am living with ALS, it is real, and I am 35 years old and fighting strong.

And what does that fight look like now? I still have to advocate as hard as I can—both to try and get the critical therapies that I need, but also to advocate on behalf of the larger ALS community. Building awareness and understanding of ALS has become a passion of mine and I volunteer in many ways so young(ish) people like myself won’t have to explain that, yes, young people can get ALS too.

Kate
Diagnosed at 32

Mira
Diagnosed at 25

Teri
Diagnosed at 35

Teri

At 35 and newly married, enjoying my flourishing career as a psychotherapist and comforting path as a Buddhist practitioner, I thought I had arrived at the satisfied life I’d long wished for. But once diagnosed with ALS and told to get my affairs in order before facing total paralysis, I found myself pertly booted off all lofty perches of personal achievement and easy equanimity. In the months that follow, with my husband by my side, I set out in dizzying pursuit of an unlikely cure, traveling deeper into the byzantine landscapes of modern medicine and questionable promises of alternative healing. Grounded by skepticism as my disability grew, I attempted to court an elusive faith in a miraculous recovery while knocking ever-louder at the door of my own knowing. I won’t lie; my journey with ALS has been harrowing. I never imagined becoming trapped in my own body in this way, and especially with a condition that Western medicine seems to have scant interest in actively battling. Yet even though I haven’t found a miraculous physical recovery, this illness–along with the support of my husband, family, and community–has taught me how to be strong and persevere, and challenged me to cultivate gratitude in simple joys I once took for granted. What’s more, having to retire at 36 allowed me time to reunite with my love for writing, a practice I had largely given up once I finished graduate school. In 2019 I began writing a memoir on finding resilience. Since I was largely paralyzed when I began, I ended up writing 90% of it with my eyes with the help of my eyegaze computer. It feels like a huge accomplishment to have completed the project within two years, and as of November 2020, No Pressure, No Diamonds: Mining for Gifts in Illness and Loss is published and widely available. https://www.teridillion.com/book.html

In the story I tell, I reclaim the mysteries of grace while gently reminding readers of the fragile blessings of embodiment. I explore whether the most brilliant jewels of healing and meaning can be found not in conventional narratives of triumphant recovery, but in what we painstakingly and lovingly carve for ourselves out of life’s roughest blows. It’s been such a delight to already have people throughout the US and beyond, with ALS or never having heard of ALS, track me down to tell me how much the book has helped them.

Another unexpected joy of this incredible challenge I’ve been entrusted with. I’d like nothing more than to raise public awareness of ALS. This wicked illness has remained underaddressed and underfunded for too long. For the sake of everyone who’s already been devastated by it, and everyone who could someday be touched by it–which is, frankly, anyone–we can’t move fast enough in finding answers. I’m so heartened by the good work of I Am ALS and similar initiatives working to ensure the eventual restoration of health and independence so many of us long for.

Allie
Diagnosed at 26

Allie

Hello! I’m Allie Schmidt, and I’m a mom living with a rare form of ALS called brachial amyotrophic diplegia.

Since I was 25-years-old, my arms have become slowly paralyzed. Whether ALS will take over my whole body remains unknown.

The first sign that something was wrong was when my right pinky finger began extending far away from the rest of my hand. It also became harder to type at work.

I decided it was time to schedule an appointment with a GP about 1.5 years after my initial symptoms started. She then referred me to an orthopedic surgeon who said that I had severe atrophy in my right hand and that I needed to have surgery immediately. ⁣

The surgery only irritated my nerves and made my symptoms worse. I still didn't notice the weakness; I just knew that I was losing control of my motor skills. ⁣

A few months later, I saw a neurologist. During my first appointment, he told me there was virtually no way I had ALS because I was too young.

All of the MRIs and blood tests came back negative. However, the EMG was abnormal in both arms. My legs, back, and cheek were normal. Doctors think I either have brachial amyotrophic diplegia or early-onset ALS.

It's now been six years since the onset of my symptoms, and I haven’t received any further treatment or tests since 2018. It's incredibly discouraging going to doctors and hearing that there's nothing that they can do for you.

I can no longer drive and my daily care activities are severely affected by my disability. My arms are nearly completely paralyzed.

I’ve dedicated myself to ALS advocacy and created, Disability Dame, a blog for moms with chronic illness and disability.

While having ALS obviously has its ups and downs, overall, I have a beautiful life that I'm extremely grateful for. My husband and I still travel frequently, my baby boy is happy and healthy, and, I get to spend my time helping others.

https://www.disabilitydame.com/early-signs-of-als/

Ashley
Diagnosed at 25

Jamie
Diagnosed at 33

Leah
Diagnosed at 27

Leah

During the spring of 2018, I began waking up in the middle of the night with leg cramps. Being 25, I joked to friends that I felt like my grandmother. I didn’t think too much of it but began taking magnesium supplements. Summer came and went. I ran through the streets of Paris celebrating when France won the World Cup. I completed my summer internship and prepared for the final year of my Master’s degree.

By the time Christmas came along, I had tripped and fallen a few times. I found myself being passed on the sidewalk by people I normally would have sped in front of. Something was off so I visited my doctor and explained that my situation did not make sense to me. I was an active 26-year-old so why did I feel like my feet couldn’t quite keep up? She couldn’t find my knee-jerk reflex and suggested that I visit a neurologist. Naively, I didn’t understand why I was being referred to a neurologist over a podiatrist. This quickly changed. I learned that I likely had ALS and a 2-5 year life expectancy.

Over the next few months, I would consult specialists in Paris, New York and Ann Arbor and spend hours on the phone making appointments. Sometimes brought to tears by feelings of utter desperation. I needed answers but couldn’t get them. I slowly stopped going to the gym. Yoga at home seemed safer.

Everything had changed but I wasn’t ready to accept that reality. During the next five months, I traveled to New York, Germany, Switzerland, Turkey, Croatia and Northern Michigan. I attended a music festival, finished my thesis and graduated from my Master’s program. I was doing my best to ignore the immense ALS raincloud that was hovering above. Between trips abroad, I stayed overnight at the hospital four times–to expedite myriad tests and complete immunoglobulin infusions. I could never fully escape the storm.

In September, I began working as a management consultant. Any fears of beginning a career in a demanding field, working entirely in a foreign language, were dwarfed by those of losing control of my body. Following orientation, I was immediately put on a project on the other side of Paris. The commute was a direct, 45-minute metro ride from my apartment but my days of using stairs were quickly coming to an end. Rather than ask for special accommodations, I would spend two hours taking three different buses both to and from the office. When I was lucky, my boyfriend would escort me on the back of his moto. As the weather got colder and my legs weaker, I swallowed my pride and told my manager that the commute was too tiring. I became an extremely loyal Uber client.

In December, about nine months after learning that I likely had ALS, I received a diagnosis to confirm the prognosis. The official diagnosis was primarily to facilitate paperwork. By then, I was beginning to feel my autonomy slip away. As Covid-19 began to force us indoors, ALS forced me to accept the use of a wheelchair. From home, I readily worked on proposals and discussed future plans with colleagues but, in the back of my head, knew that I would no longer be working by the time they came to fruition. Early summer, I took medical leave.

ALS is a formidable deluge, progressively taking away independence and thrusting one far from their comfort zone. I have had to learn how to ask for help and how to accept it. How to live in the now and concentrate on those I’m with. How to rethink my definition of success and what I want from life. Today, I have moved back to the States to receive a novel treatment at Columbia Medical Center and be closer to family. I have married my fiercely loyal boyfriend of 6+ years. I have never felt more loved, more fortunate and more hopeful.

Monique
Diagnosed at 32

Theresa
Diagnosed at 33

Theresa

My journey to diagnosis has been a long and difficult one, like most ALS patients I am assuming. Nearly 3 years ago I had a nasty virus that caused a whole host of medical issues that my medical team thought were related to something autoimmune in nature. The telling sign was numbness and tingling on the left side of my face that extended into my chest, at that time I saw several different specialists and all my tests kept coming back as normal. Fast forward about six months I am back in the gym working out and my trainer noticed significant strength differences between my arms, I was much weaker on the left. I saw neurology who ordered more diagnostic testing, my first EMG, and was told I had a brachial plexus injury of some sort and to follow up, I didn’t. A few months later I developed significant atrophy to both of my hands that I attributed to cubital and carpal tunnel syndrome as I was sleeping in odd positions due to sciatica. last November I had back surgery and had a herniated disc removed that was encompassing my sciatic nerve. My pain improved immediately and so did my strength, until I was about six weeks out from surgery I started falling and was unable to get myself up when I fell. This got me thinking that something was going on so I went back to see neurology, someone I have been seeing on and off throughout the years for migraines and vague neurological complaints that I thought could possibly be multiple sclerosis. He did an EMG which showed signs of paralysis extending from my brachial region on my left arm down into my left toes. To this day I have not viewed my results but I am told they show signs of motor neuron disease but only at one level. The neurologist referred me to a neuromuscular specialist at University Hospital in Cleveland. They ordered a host of medical tests including MRI of brain and neck with and without contrast as well as referring me to a Nuro immunologist who performed A spinal tap. My MRI of my brain has changed considerably and showed hyperintensity flair 2 along bilateral sub cortical tracks, The radiologist mentioned that it looked like it could be ALS. The Nuro muscular specialist ended up diagnosing me with facial onset sensory motor neuropathy. They gave me three infusions of steroids over three days which helped my strength and balance considerably. But the improvement did not last long. By spring my voice and speech quality had changed and I developed Psudo bulbar affect. They decided to put me on high-dose steroids with a taper down and I did well until the taper I got weak again and started having weird rashes back as well as some other concerning autoimmune signs. My neuromuscular specialist had referred me to ALS clinic and I have been following up with them since May. For the longest time my ALS doctor had me diagnosed FOSMN vs ALS vs autoimmune disease. Mind you I had significant progression of weakness around June and had several nasty falls so I started using a cane which eventually led to a Rollator walker because I was still extremely unsteady with a cane. I was in physical and occupational therapy with ortho after my back surgery but this past summer it changed to neurological rehab and I added speech therapy.

ALS clinic thought it would be a good idea to get genetic testing. On Tuesday after waiting over two months for results I found out that I am +c9ORF72, so my diagnosis was changed to genetic ALS. They are going to stop the steroids, it’s too risky to remain on them.

I did go to Johns Hopkins for a second opinion in there ALS clinic back in September and they had diagnosed me with sporadic ALS. I was so angry but now I am happy I went because it opens me up to being a patient there meaning I am eligible for their clinical trials and they have many.

So it’s been a long road getting here. I was in complete denial until genetic testing came back. Now I t’s real, very real! I did get a great dane puppy, she is in a board and train program for 30 days to become my service dog.

Alyssa
Diagnosed at 27

Asia
Diagnosed at 26

Cari
Diagnosed at 28

Jeannetta
Diagnosed at 25

Lindsay
Diagnosed at 31

Nicole
Diagnosed at 32

Ana Ch.
Diagnosed at 29

Chiara
Diagnosed at 34

Chiara

My name is Chiara Marcucci. I’m from the city of Latina in Italy; I’m thirty-four and have been living with ALS for the past eighteen months.

Before the symptoms of the disease began to make their appearance, I used to be active (I daresay hyperactive) and carefree. I was a sports enthusiast – especially fond of Pilates and jogging outdoors. I also basked in the joys of motherhood, on a daily basis.

I felt the early symptoms of the disease precisely during one of my Pilates sessions. Right from the very start, I sensed that the pain I was feeling was not some fleeting discomfort, but the sign that something more serious was coming into the picture. Time, unfortunately, proved me right.

Soon my daily routine included a series of going back and forth to the hospital, enduring long medical examinations that were preceded and followed by interminable waiting. I went through all of this without anyone actually telling me exactly what was going on. I felt as if I was living a nightmare and it was impossible to wake myself up.

Following eight exhausting months of experiencing the unknown, silence and half-truths – I was served the distressing verdict. I was initially incredulous and shocked, then went from refusing the diagnosis to gaining a will to fight. I do my best to be strong for my son’s sake since he considers me a sort of “Wonder Woman”. I simply cannot disappoint him.

But my life and my concept of what is normal have changed dramatically. My day-to-day schedule is marked by continuous medical treatments. It’s impossible to keep from noticing how people perceive me. I notice it by the way they stare at me when I come across them in the street. I can imagine what they’re thinking as they watch my faltering footsteps. And now that my repeated falls have forced me (against my own will) to resort to a wheelchair, their curious gazes have become all the more persistent.

I increasingly have to ask for help, even for simple things like getting into my clothes. It’s hard for me to accept the fact that I can’t participate in my son’s activities as much as I used to. I can no longer take him to school or play with him in the park. I was planning to continue working, although it was proving to be more and more difficult for me. In any case, I recently quit my job so that I could undergo experimental treatment.

These cold winter days keep me from going outside as much as I would like to – and this saddens me. But I’m doing my best to organize regular get-togethers for lunch or dinner with close friends. I can sense that my physical conditions are gradually going downhill, but I am aware of the fact that I have no choice and all I can do is accept the change.

I’ve learned that I have to reconcile with the sudden changes that my body is subjected to and I have planned my tomorrow. For the sake of my son. And this provides me with peace of mind.

Jenny
Diagnosed at 35

Macey
Diagnosed at 28

Sam
Diagnosed at 25

Sally
Diagnosed at 32

Sally

Hi, I’m Sally. I’m 33 years old and I live in Denver, Colorado.

I was diagnosed with ALS in September 2019. At that time, I was living in the Upper East Side of Manhattan in a 6th-floor walk-up apartment building. The symptoms began subtly in fall of 2018. I noticed I was becoming unusually fatigued at spin class, and I couldn’t run as quickly as expected. I thought I was just out of shape and needed to go to the gym more often to build up my endurance. Walking up the stairs to my apartment became steadily more difficult as fall turned into winter.

In December of 2018, I purchased a pair of new boots and noticed I was constantly tripping on my left foot. Soon after, my pace became slower and required more work to keep up with the fast walkers of New York City. One afternoon, I was trying to make the train to work, and slipped on the stairs down to the train platform and was overwhelmed with dread that something was terribly wrong. I noticed right after that my reflexes were extremely jumpy and overactive. I made an appointment with my local physician for the following week.

The doctor did a physical exam, and confirmed the extremely overactive and unusual reflex responses. He recommended I see a neurologist immediately.

At this point, I was noticing intense cramping in my calves in the middle of the night and twitching all throughout my legs.

I eventually saw four different neurologists over the course of 6 months of a plethora of tests and appointments. After my second EMG, ALS was mentioned as a possibility. Finally, I spoke to one of the top neurologists at Columbia University and she confirmed through a process of elimination that I had ALS.

I eventually was unable to continue working in my field (as a sommelier at a fine dining restaurant in Manhattan). The guests I was serving would notice my struggle walking, and would ask if I injured my leg or something of the sort. After a couple of months of dealing with all the emotional and physical tolls, I retreated to my apartment (with an elevator) and became a recluse for the next 3 months.

Navigating the financial requirements, treatment options and clinical trials was the most aggravating and depressing thing to have to do as someone already so emotionally taxed with a terminal disease diagnosis.

I decided to move to Denver in July of 2020, after Covid 19 presented an unusual opportunity for change. Together with my partner of 7 years, we opened up Denver Wine Merchant. I’ve chosen to pursue my dream and create the best wine experience possible.

I refuse to believe this cruel and misunderstood disease is just bad luck. I manage my progression with belief that I can beat this awful fate, and staying busy doing what I love has been therapeutic in and of itself.

Ana
Diagnosed at 32

Claudia
Diagnosed at 20

Claudia

My name is Claudia Cominetti. I’m 44 and live in Arona, a pretty town on the shores of Lake Maggiore in Northern Italy. I was diagnosed with ALS in the late summer of 1997, when I was 20 years old. This fateful diagnosis was made after I had suffered the early symptoms of the disease such as exhaustion, weakness in the upper limbs and weight loss during the spring of that same year. These symptoms alarmed my family and me to the point of going in for some testing, but a diagnosis was not made at that stage.

However, going about my normal everyday activities was getting more and more problematic: turning keys in the lock, opening a bottle and combing my hair were becoming impossible tasks. The orthopaedist who had previously examined me suggested I see a neurologist; I was admitted to hospital, but without any particular outcome – only various assumptions that led to an ordeal involving additional tests and examinations.

The first certain diagnosis, albeit one made with a question mark considering my young age, was made by the Istituto Neurologico C. Besta di Milano in August 1997. I still remember the drawing that the neurologist made to explain what was happening to me. The full picture actually dawned on me only a few months later when I visited a leading centre for the treatment of ALS, where Dr. Mazzini, who is still my neurologist, prescribed further testing – ultimately confirming the diagnosis and short life expectancy. It came as a harsh blow for myself and my family, with them being bereaved for years; whereas I experienced disbelief and reacted through a sort of rebellion that led me into setting off on a battle that I am still engaging in.

The disease did not stop its course and inexorably continued its rapid progression: to the point that soon I was no longer able to take care of myself, but could only ask for help using my voice – something that I still do. The following spring, along with my mother and sister, we decided to set off on a trip that we had been dreaming of – to Mexico, destination Cancun, to the land of the Maya civilization. My legs were beginning to feel weak during that period; I fell repeatedly and this obliged me to move around on a wheelchair.

Our stay in a village in Playa del Carmen was only the first of a series of unforgettable holidays. Clearly, travelling has been a pleasant opportunity during all these years – one that was granted to me by ALS. In fact, my condition made it impossible for me to work and I interrupted my studies. My mother had to quit her job to take care of me, whereas my father had already retired and my sister was already married. In other words, our lives were turned upside-down in some way and we had to find another path in life.

Luckily we came upon extraordinary people along our way who (thanks to their perseverance, availability and kindness) learned to manage such a complicated situation together with us. First and foremost the gymnastics teacher who took care of me until his passing, helping me keep my joints and body free from stiffness due to atrophy, in addition to offering me his continuous moral support.

No less than my friend Samanta who has always been at my side, my companion at concerts, entertaining events, etc.; and all the many other people who come in succession during my life made up of highs and lows. The psychotherapy and educational support that accompanied me during that period allowed me to grow and discover that I am a woman who still has a lot to offer. So much so that at the age of 32, I decided to resume my studies in a new field, ultimately obtaining a degree in Pedagogical Advice for Disability and Marginalization – a fantastic experience that I hope will allow me to gain success and gratifications. All in all my young age, the support of my family and specialists have helped me in never giving up and considering a different lifestyle – a dignified one in any case.

To date, I am trying to set up an established career as a pedagogical consultant, with the aim of offering support to those in need. But travelling still stands as an important activity in my life: in addition to Italy, I’ve visited Africa various times (Sharm El Sheikh and Djerba), Europe (France, Spain and Greece), Asia (United Arab Emirates) and have also travelled to America (Santo Domingo and New York – my favourite city).

Kaitlin
Diagnosed at 29

Kaitlin

“When you’ve done everything you can do, that’s when God will step in and do what you can’t do.” 2 Corinthians 12:10

The year I turned 28, I got engaged to a wonderful man and completed my doctorate in psychology. Everything that I had dreamed for myself was coming true. The day after my 29th birthday, a month before my wedding, I was diagnosed with Amyotrophic Lateral Sclerosis (ALS), and everything changed.

I was always active. Volleyball, kickboxing, yoga, and soccer were all great but I really loved to run. I ran with my mom, my sister, brother, father, and eventually my fiancé; and it provided time outdoors to get out all of that extra energy and just enjoy God’s creation. In January 2016, I started to have difficulty running. Running was always easy and that winter suddenly it wasn’t anymore. I didn’t understand how it could change. I couldn’t seem to stop my own impact, my feet hit the ground too hard, and it felt like I was continuously off balance. Then I started to actually fall. In the beginning I could catch myself, and then I couldn’t anymore. People kept telling me to just shake it off or that it was all in my head. I hoped it was but couldn’t seem to fix it on my own. So I went to the foot doctor. That seemed like the logical starting place since my feet appeared to be failing me.

Around the same time, I started falling from a standing position. When I went to the foot doctor, she asked about other falls and recommended that I see a physical therapist. Unfortunately, as the physical therapist worked with me, instead of getting more balanced I seemed to be getting worse. I went from not being able to run to having difficulty just being able to walk. As the drills showed less progress and more digression, my physical therapist recommended I make an appointment with a neurologist.

The first neurologist that I met with was brusque but relatively informative. During my initial appointment, he did a sensory checkup that I would soon learn would be done each time I met with a new doctor. This consists of checking my reflexes, ability to track with my eyes and hands, and an assessment of my sensation. This particular doctor pulled his keys out of his pocket and used those to scratch the bottom of my feet to see if I could feel it. I could. It hurt. When he then pulled a safety pin out of his pocket, to see if I could feel myself being poked, I tried to jump off of the table. Meeting with him was stressful. He was not in the business of giving hope. Nevertheless, he scheduled a series of MRIs.

During that time, my strength seemed to be getting worse, my balance increasingly off-kilter, and my walking more noticeably impaired. My mother attended all of the appointments with me, and after our first negative experience, my sister attended as well. Many of the doctors made jokes about how many of us were in the room. As psychologists, all three of us knew that under this type of pressure no one person could appropriately report the details that the professionals were saying. When they joked about my support system, I agreed and said that I brought a team of therapists with me which, luckily, I had. God gives all comfort and I know that “my God will supply every need” according to Philippians 4:19. That doesn’t mean that I don’t need reminders. For me, those reminders often came from my family. They had the ability to shore me up, help me to walk when I couldn’t, and help me to believe when I felt empty. Later, as I prayed to see God more, that comfort would come from even more people; but it always came from my family.

As my progression of negative symptoms accelerated, my family and I felt that we needed someone who could be more available and responsive to our concerns. In one of a series of blessings, a family friend reached out to a friend of hers, who was also a neurologist. Although 30 minutes farther away, this neurologist was much more responsive, empathic, and invested in explaining the minutia of each neurological test as well as all of the potential implications. Through her, over a month and a half, I ended up having an EMG, two spinal taps, and a spinal and cerebral test to look for an AVM which resulted in a week-long inpatient stay at Columbia University Medical Center. It was there, when an unknown doctor walked into the hospital room I shared with a stranger and told the room I was diagnosed with ALS. This doctor explained that there is no cure, no treatment, and that, if my diagnosis is correct, then there is no hope.

Each time we went to an appointment, we had to be reminded that “we live by faith, not by sight” 2 Corinthians 5:7. On June 20, 2017, my diagnosis was confirmed. A well-recognized, highly empathic, expert in the field told me that, given my atypical characteristics, and rapid progression, he expected that within three months I would need to use breathing and feeding tubes. He stated that, while most patients with ALS pass away within 2 to 5 years, he expected that I had, at most, a year from the date of diagnosis. He said that I could expect my speech to go away, to lose my ability to chew and swallow on my own and that eventually, I will lose the ability to breathe.

“Don’t worry about anything, instead, pray about everything. Tell God what you need, and thank Him for all He has done.” Philippians 4:6-8. From a very realistic perspective, I need to work on conserving energy and appropriately using the energy that I have on a day-to-day basis. That said, I love to work. I spent years training for my career and my enjoyment of it did not change because of this diagnosis or these symptoms. I know that I may not always be able to work and that maybe what I do, or the ways that I do it, will have to change, but my goal is to work as hard as I can for as long as I am able to. Jerry West once said, “You can’t get much done in life if you only work on the days when you felt good” (Maxwell, J. C, 2011, p.137). That resonates with me. As tired as I often am, I know that in our world a lot of people are tired. I am often reminded that each day I have is an opportunity to keep working and to let myself be used by God. So I pray for opportunities and reminders to be able to pray for other people like I know they are praying for me.

To anyone reading this, my prayer for you is, “May the God of hope fill you with all joy and peace as you trust in Him, so that you may overflow with hope by the power of the Holy Spirit” Romans 15:13. Two separate, highly known medical facilities diagnosed me with ALS. I was told that I had one to five years to live and I watched myself lose the ability to run, walk, cut my food, dress myself, bathe myself, and speak in the way that I have spoken my entire life. I have had to adapt a lot and along the way we have seen things that we can do. My brother explained it best with a story that he heard on the radio. ‘It was snowing and the custodian began shoveling the steps to the school. A student in a wheelchair came out and asked him when he would shovel the ramp so that she could go to school. He said that he had to do the steps first so the majority of kids could get in. She said if he did the ramp first then everyone could get in.’ To generate change society needs to learn that making things better for everyone includes each individual. We need to share our struggle in order to help facilitate physical adaptations to mitigate limitations.

My goal is to use every negative experience as an opportunity to see how to better help the system and to make accessibility the first thought rather than the second. In June of 2021, it will be 5 years since I was diagnosed with the death sentence that is ALS. Since most people with ALS pass away within 2 to 5 years of diagnosis this is yet another blessing amidst my daily miracles. Miraculously, I am still able to type, communicate, and work full time as a psychologist. It is a daily testament each time God helps me to move and to breathe. As I have become progressively more paralyzed, we have seen great strides in ALS research and I believe we will one day find a cure. Together we can continue to raise funds and provide tools to help others function to the best of their abilities until that cure arrives.

Mayuri
Diagnosed at 32

Sarah
Diagnosed at 26

Andrea
Diagnosed at 33

Desi
Diagnosed at 28

Kari
Diagnosed at 27

Michele
Diagnosed at 32

Sunny
Diagnosed at 27

Kimberly
Diagnosed at 28

Sarah D.
Diagnosed at 39

Brooke
Diagnosed at 33

Brooke

I was diagnosed with ALS this past March at the age of 33.

ALS, aka Lou Gehrig’s disease, is a progressive neurodegenerative disease. It has no cure and doctors give you 2-5 years to live after being diagnosed.

This all started four years ago when I developed weakness in my left foot, noticed by many colleagues as I limped my way to get my daily coffee.

After hundreds of tests, the less scary options were ruled out one by one, and I was left with a “wait and see if it progresses”. Earlier this year, I felt weakness in my right foot, and received a confirmed diagnosis.

I spent a couple months crying and shoveling M&Ms into my face before deciding to attack ALS head-on by driving awareness through social media. Through the support of my family, friends, and work, I've been able to laugh in the face of ALS.

Here’s a glimpse of what life looks like today:

- My symptoms remain in my legs and I feel very lucky to have slow progression. I walk with a cane or a walker, but will still hobble my way to the middle of the dance floor. My dog, Draymond, does not seem to notice the lessened mobility, and still drags me to the closest source of food on our walks.

- I just hit my six year Salesforce anniversary, now as a fully remote employee, and I’ve been in awe of their benefits as well as the kindness I’ve received from colleagues, partners, and customers.

- I go to an ALS clinic every three months to monitor my progression. It can be disheartening to be told things are getting worse each time, but my family takes me for pancakes afterwards and I forget pretty quickly.

- I'm now involved with Salesforce’s resource group for disabled employees, and they are spinning out a group specifically fighting ALS led by some incredible executives. I can’t wait to see what we’ll accomplish.

- I joined a group called Her ALS Story, made up of women diagnosed with ALS before their 35th birthdays. The group unfortunately continues to grow but it's the best club you never wanted to join. We just held our first retreat and seeing them fight is beyond inspiring.

- I regularly monitor new research being done for ALS. There is a lot of work being done, and I hope I’ll be given the chance to try anything that may help.

If you’d like to follow along my journey, you can follow me on instagram or TikTok at @LimpBroozkit, both linked below.

Don’t hesitate to reach out with questions or share my story. The more awareness we can drive, the better chance we have of ending ALS for good.

Thank you for reading,

Brooke aka Abraham Limpin

Christina
Diagnosed at 22

Kimberly

My journey starts out like many others, prior to the end of 2019 I was a "normal" healthy young adult working in the medical field full-time and spending my free time with my boyfriend, riding mountain bikes, road cycling, hiking, and traveling at any opportunity I could. Towards the end of 2019 I started out having symptoms of what I thought was simply hypoglycemia--it started with shaky hands, sudden extremity weakness, facial flushing, brain fog, and feeling lightheaded/dizzy.

Over the next few months, I eventually got in to see an endocrinologist who did an extensive workup and said that I was having post prandial (post meal) hypoglycemia. I didn't think much of it, and eventually started on medication to help maintain a normal blood sugar level.

October 2021 hits and I had an emergent appendectomy which ended with severe urinary retention and doctors puzzled as to why I would be retaining so much urine unless there happened to be an underlying neurological issue that had yet to be discovered. This seemed to be one of the first turning points in my journey to ultimately being diagnosed with genetic ALS. My urologist was top notch, incredibly thorough, and asked if I'd be okay with him ordering MRI scans of my brain and spine. I agreed and was baffled when the results came back with two lesion like abnormalities on my brain stem.

Over the course of the next year, I was in and out of the hospital for symptoms of extremity weakness, shortness of breath, chronically low sodium/potassium, numbness and tingling from my knees down, livedo reticularis all over my entire body, marked dysphonia that would last for months on end and several other multi-systemic symptoms. No one could seem to find a unifying diagnosis that made sense of all of my symptoms. I had imaging, lumbar punctures, EMGs, nerve conduction testing, you name it, I had it done.

I eventually ended up traveling to see a neuromuscular specialist in NYC who would start to really dig a little deeper and also refer me to see a geneticist at Mount Sinai in the city. I ultimately had genetic testing done which revealed that I have an SQSTM1 gene mutation causing the genetic form of ALS and also Paget's disease of the bone, which would explain why my bones were so prone to breaking. It finally all came full circle. While I didn't think an ALS diagnosis was in the cards that were dealt to me, I was given a wild card and I'm ready to take on whatever comes in the future. Finally having a diagnosis has been relieving even though ALS isn't something my doctors ever imagined that I would be diagnosed with at the age of 28.

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