Living With HIBM - What it's like to live with a progressive neuromuscular disease

Dark Corners

April 25, 2020April 25, 2020

In moments when I am so overwhelmed by the reality of my disease, I go into extreme coping mode. This involves me zooming out as far as possible- far enough to try to intellectually conceptualize this life as simply another phase of my existence. Just a blip. It’s a clear and desperate attempt to disconnect from my feelings.

It’s not often that I employ this defense. I’m typically a fan of feeling my feelings. But it’s also not often that I find myself teetering on the edge of my resilience.

For the past few weeks I had been looking forward to writing about how I’ve been coping with this pandemic. I recently wrote about coping with coronavirus-induced anxiety from my perspective as a psychiatrist. (Read here.) This time it was going to be from my perspective as a patient living with a chronic disease. I thought it would’ve been funny if I started with something like this:

Has life got you down? Are you sick of having to tolerate uncertainty? Do you live in a perpetual state of anticipatory anxiety? Does it feel like you have no control? Are you finding yourself looking for answers into the future while also trying to stay present? Are you desperately grabbing onto any and every bit of information regarding a treatment? Are you trying to hold gratitude and anger in the same hand? Have you lost access to your usual coping mechanisms? Are you frustrated by the restrictions on what you can and can’t do?

If so, call me!

Call me, because I get it. Call me because although the world out there is unrecognizable, the internal emotional landscape you are likely trying to navigate is (tragically) familiar to me. I’ve been here for about the last 15 years. Because of this, if I may say so myself, I feel like I’ve been acing this whole pandemic thing from an emotional standpoint. And as a therapist, I’ve never felt more in my element.

Sure, in that first week or two, I freaked out. I couldn’t stop consuming the news. I felt sad, scared, angry and numb. I was jealous of people who suddenly had all this free time to clean out closets and binge watch shows. I, on the other hand, was busy seeing patients from the corner of my bedroom while managing homeschooling-related Zoom meltdowns. While other husbands were staying home, mine was leaving to go work at Kaiser every day. I cried to him about how I’d never be able to survive if he died. Together we worried about how my already weakened body would react if I myself fell ill.

To top it off, I noticed I was becoming weaker and moving more slowly. It hadn’t dawned upon me until then, but it made perfect sense. I was barely moving around. On a typical day, I at least walk from my front door to my car and then to and from my office. Working from home, I wasn’t even getting up between patients to open the waiting room door. When you live in a body like mine, you preserve whatever physical energy you can, wherever and whenever you can. To make matters worse, I was abruptly cut off from my massages, physical therapy and the gym.

So after coming to terms with the loss surrounding my new macro and micro reality, I did what this disease has repeatedly forced me to do- I adapted. I set up a slightly more proper office in the corner of our bedroom. I made sure to stand up and take a few steps between patients. I ordered an elliptical machine to put in the garage. My sister graciously offered to keep her pool heated so that I could resume swimming on Sundays. I stopped worrying about when the surge would hit and whether my husband would be called up to the hospital wards. Instead I relished the fact that for the time being, he was doing virtual sessions and coming home even earlier than usual. I started sleeping well again. We planted a veggie garden for the first time in years (thanks, Jacob) and I even started painting out on our deck with the boys which is something we never do (thanks, Mom, for the oil paints).

Basically, I settled in to exactly where I was. Not because everything was okay, but rather, quite the opposite. Living with the ongoing uncertainty and anticipatory anxiety of a progressive disease has taught me to optimize and maximize any and all moments of available joy. I can’t rely on life circumstances being comfortable in order for me to feel comfortable. Happiness comes the hard way for me. It must be generated from within. It requires an ongoing investment in emotional vulnerability, mindfulness, and gratitude. Especially since loss lurks around every corner.

One week ago, I turned into an unexpectedly dark corner. I woke up in the morning with acute low back pain. I tried to stay calm. Mild to moderate pain has become an increasingly frequent and unwelcome presence in my life as of late. I’ve mostly been able to manage it. This particular low back pain actually first showed up when we returned from a trip to New York in December. Sitting for hours at a time in my electric tricycle- type scooter appeared to have exacerbated a previously identified tear in the labrum of my hip joint. This brought on something called FAIS (femoral acetabular impingement syndrome) which manifested as horrible hip pain which then led to a painful tendinitis in my knee.

Those were a rough couple of weeks. I cringed every time I tried to stand up or take a step. Not only was it painful, but it was dangerous as I already struggle with maintaining balance. I wondered if this was my new baseline. I wondered if a body like mine- which uses all the wrong muscles and mechanics to move- could even rehab properly. My saving grace then was that I could at least experience pain relief in a seated position and while sleeping on my side. After a couple of weeks of diligently working on it, I fully recovered. I was so grateful and enormously relieved.

This time, however, has been different. For the last week I have been in excruciating pain. Around the clock. At first I calmly reminded myself that I’ve been here before and recovered. No need to panic. Two days in, I scheduled my first virtual physical therapy session. She guided my husband on how to try to release the muscle spasms. It didn’t help. By Saturday night, I could barely move. Unlike last time, there wasn’t a single position I could contort myself in to feel relief. I wasn’t getting any sleep. Advil and Tylenol were of no help.

By Sunday morning, I couldn’t stop crying from the pain. We called the PMNR (physical medicine and rehab) doctor who’s seen me before. Based on my symptoms (exquisite pain, muscle fasciculations, patches of numbness on my lower leg), he suspected there was an L4/L5 disc issue in addition to the pre-existing hip issue. He called in prescriptions for Neurontin, high dose oral Prednisone and a vial of Toradol for my husband to inject. Nothing about this plan felt comfortable to me. But I was desperate. Anything was going to be less uncomfortable than the pain.

Nothing helped. I couldn’t stand up, lie down or or even sit up straight without crying. I couldn’t bear weight on my left leg. I had to use my office chair as a makeshift wheelchair to get around the house. I tried even more medications, including two different muscle relaxants- a class of medications I’ve always feared given that I have a muscle disease. I even resorted to Norco. Still no relief. By Wednesday, the pain was so intolerable that after five weeks of diligently sheltering at home, I had no choice but to go to Kaiser. I needed to get imaging to figure out what was going on.

As we sat with the doctor going over the possible diagnoses before it was time for my MRIs of the spine and hip, I started sobbing. One thing I’ve always appreciated about this disease is that it’s never required any invasive procedures or treatments. Mostly just the mental will and capacity to tolerate the emotional discomfort of the physical losses. And the discipline to keep up exercising and eating healthy. That I can handle. This new dimension of pain and acute incapacitation was too much for me. I can adapt to being physically weak, moving slowly and relying on others for help. But pain- it just feels like a life ruiner. One from which there is no escape.

Those 50 minutes in the MRI scanner were more painful than anything I’ve ever experienced. Even labor. At least with contractions, pain comes and goes. With my legs taped together and no relief from the pre-MRI Toradol shot and valium, I tried to dissociate from my body. I tried to focus on the loud sounds and clicks coming from the machine to drown out the pain coming from my body. When that didn’t work, I heard the angelic voice of my older son singing, “Oseh Shalom” (a song for peace) on repeat in my head.

As we returned to the doctor’s office to review the results of what appeared to be normal MRIs (minus the labral tear and significant muscle atrophy), we decided to try one last diagnostic test. He injected a combination of lidocaine/bupivacaine deep into my hip joint. If there was relief, that meant it was a problem in the joint. If there wasn’t, then we could only conclude that it was coming from a severe spasms/tendonitis in the deep muscles of my abdomen and hips which are repeatedly overused and abused in my body. After four hours, I left there with no pain relief. Just a walker. The metal kind that people put tennis balls under. The one piece of adaptive equipment I’ve dreaded all these years. We decided my only hope was to try some very deep myofascial release/body work. If that didn’t work, maybe Botox.

Obviously, it’s hard to see a physical therapist in- person these days. Not to mention the last thing I want to do is expose myself to someone else. Or hand my body over to someone who isn’t familiar with it or with my disease. It’s all so risky and uncomfortable. But these are choices I don’t have the luxury of making right now. It’s simply a matter of which discomfort is less uncomfortable.

My mom was able to have her physical therapist come over Thursday afternoon. We set up the table outside. We both wore masks. He did intensive myofascial release for 1.5 hours. I cried from the pain. I worried he was doing more harm than good, not understanding that I don’t have normal healthy muscle tissue. I let that go and just I prayed that I was going to get some relief.

I wish I could tell you that I’m better now. I’m not really. I’m no longer crying from the pain, so that’s something, but I can’t bear weight on my left leg due to pain and weakness. I’m trying to inch around the house on the walker. And I’m still desperate to get solid sleep.

I’m not quite sure how I’m going to find my way back to my trusty happy healthy emotional baseline if this pain keeps up. I don’t know how people live with chronic pain. But just like living with this disease before the pain and just like living under the uncertainty and anxiety- provoking threat of this pandemic, I can only rely on the same coping skills and tools I’ve been using all along.

I will continue to make room for my feelings, no matter how sick and tired I am of feeling them. It’s exhausting to feel, but by now I know it’s even more exhausting not to,

I will continue to practice mindfulness and try to be here now, even though it feels impossible. Is this going to be my new normal? Will I be able to return to my beloved exercise routine? Will this setback have catalyzed moving into a walker earlier than anticipated? Is my dependence on my husband to help get me out of bed and dressed a preview of what’s to come?

One thing I do know is that how I choose to fill in the blanks of uncertainty in my mind will directly impact my internal emotional quality-of-life. And that goes for everyone right now during this pandemic. We don’t have to believe that everything is going to be okay. The truth is, a lot won’t be. We do have to believe that we will work through and cope with whatever is going to come our way.

Finally, I will continue to hold on tightly to the gratitude. Gratitude for having health care, the resources to get help and a job that I can continue to do regardless of physical strength, pain or pandemic status. Gratitude for having a beyond incredibly loving and compassionate network of family and friends who will do anything to try to alleviate my suffering.

And most of all, gratitude for getting to live this life alongside a partner who holds my hand and follows me around every corner, no matter how dark. This post is dedicated to him.

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From Unicorn to Raccoonicorn

January 24, 2020January 24, 2020

A few days before Halloween, I fell. I fall on a semi-regular basis, so that part’s unremarkable. As a self proclaimed “good faller,” I’ve always prided myself on getting away with just a banged up knee or bruised elbow. But this fall was different. This one landed me in the urgent care CT scanner a few hours later to rule out a facial fracture. Worse, it also threatened to put a major crack in my defensive shield.

We had spent the earlier part of that day having fun at my younger son’s school Halloween carnival. This year was especially enjoyable as I finally ditched my witch’s costume (worn on repeat for seven years) in favor of being a unicorn. I cruised around campus in my mall cop scooter, chatting with friends and showing off my newly acquired stick-on face jewels.

Unfortunately, Sunday mornings out with my family come at a cost. I swim on Sunday mornings. It’s one of only two workouts per week. In my pre-disease life, skipping a workout was relatively inconsequential. It was disappointing, sure. (I enjoy a good endorphin rush as much as anybody.) But it wasn’t anxiety-provoking. It didn’t feel threatening. I didn’t live in the constant state of hypervigilance I do now – always worrying if I’m doing enough to preserve and maintain the muscle strength I have left. The phrase, “use it or lose it,” never relentlessly reverberated throughout my mind. I used to get to be lazy. Laziness is a luxury no longer afforded to me.

And so, despite it getting dark and not feeling in the mood, I gathered my things and headed to the pool.

For the last couple of years, my mom has joined me on Sunday mornings. It’s a chance for us to catch up and for her to help me navigate what is an increasingly tricky physical environment. I didn’t reach out to her that afternoon because I planned for a shorter swim on my way to pick up my older son. It’s not as if I only ever went with her.

I actually finished with some time to spare. It was colder than usual and I really wanted to warm up before heading back outside.(As my muscles slowly waste away, so does a layer of my body’s natural insulation. This basically leaves me feeling cold a lot of the time.)

I stared at the open shower off to the side. Up until about a year ago, I would head upstairs for a hot shower after swimming. Sometimes even a steam sauna. It was a lovely ritual. But then the staircase to the showers, along with the long walk through the locker room, became too treacherous. Inevitably, as is so often the case, the cost-benefit balance shifted. I begrudgingly whispered another good-bye and quietly transitioned to using the pool shower to rinse off. Eventually, even that felt too effortful. Now I just dry off on the chair I’ve strategically placed by the edge of the pool and take my shower at home.

But that afternoon, I really wanted to treat myself to a hot shower. I convinced myself that if I could just be extra careful…

Turns out, I made it. Unscathed. A huge relief considering all I could think about en route was how upset my mom would’ve been had I fallen. “Why didn’t you call me to come with you?” I could hear her say with a voice equal parts love, worryand frustration. Feeling triumphant, I slowly made my way back to my chair.

The next thing I knew, I was face down on the tile. Before I had time to process, blood started gushing out of my nose. My left eye started closing without my permission. I touched my finger to my eyelid and realized it was rapidly ballooning. My head was throbbing. “Stay calm. Ice. Ice. You just need ice. Just get some ice.”

I sat up on the tile floor in my wet bikini, stunned, holding a towel to my nose, trying to figure out my next move. I glanced at the pool. Two swimmers were still doing their laps. I needed to tell someone, but I couldn’t get up. Not just because I was so shaken, but because I can’t really get up off the floor very well at all anymore, no matter where I am.

I peered through the glass into the first floor gym and saw a woman motioning to a man while pointing up at me. It was clear she had seen what happened. She ran up the stairs to check on me. I told her I was okay, but I just needed ice. I was so worried my eye was going to swell shut.

A minute later, she came back. This time with a trainer, but no ice. I wasn’t sure where the communication had failed. I politely reiterated that I was okay, but if they could please just get me some ice.

The trainer came back. But with ice in a plastic cup. I didn’t have time to question how it was that a gym didn’t have a single ice pack. I simply took the cup and asked if she wouldn’t mind grabbing me a plastic bag from the locker room. I made my way to the chair. I texted my husband and told him I had a little fall and asked if he could pick up our older one. I would be home soon.

Strangers walking by asked if I was okay. “Yes, yes, thank you.” It was awkward and uncomfortable. I still hadn’t dressed. I was desperate to know what my face looked like. “How bad was it? Did I need to be worried? Is this what a concussion feels like?”

I quickly realized I was too afraid to get up and move anywhere on my own. I texted my husband again asking if he could swing by after pick up. When he showed up, I looked at him and started sobbing. Sobbing for what had happened, sobbing for what I had put on him.(Just that morning his dad had surgery for a fractured hip from a fall the day prior.)

He held me, told me I didn’t look too bad and then delicately walked me to my car. I went home. I was freezing. I showered and cried some more.

My face was transforming by the minute. Did I have a periorbital fracture? Some sort of traumatic brain injury? We decided I should probably go to the urgent care. He ordered the CT from home before we left. He put me in a hospital wheelchair when we got there. It was the urgent care where he does his on-call shifts. They fast tracked me through to the scanner.

As the tech helped me lie down onto the machine, she asked if I had just been in a car accident. Of course she did. I couldn’t blame her. I stared up at the painted cloud panels on the ceiling as my body slowly glided into the machine. A deep sense of loneliness overcame me- a notably strange and unfamiliar feeling for me. As tears quietly streamed down my face, I wondered how it was that this was my life.

As it turned out, aside from some sinus issues and a deviated septum, I was okay. Nothing was broken.

I’m not sure what happened after that night. I don’t know if the flood of gratitude and relief for it not having been worse washed away the majority of my emotional discomfort. (Can’t say the same for my physical pain.) I don’t know if my ability to bounce back so quickly was continued evidence of what feels like a more permanent residence in the land of acceptance around my disease. Or perhaps it was actually denial masquerading as acceptance as I rationalized why I didn’t have to worry or think too much about the next adaptation since after all, this accident happened while doing something I didn’t need to do. It wasn’t essential to my daily functioning.

What I do know is that I continued to be in awe of the human body- specifically the skin’s ability to stretch and deflate and morph into so many colors throughout the healing process. (In my business, we call that defense “intellectualization.“) I know that I became an expert at using my younger son’s yellow Halloween face paint for days afterwards to offset the purple bruising. And I know that eventually I felt like some sort of disabled warrior badass and stopped covering it up when I went out.

Most of all, I knew that I wasn’t going to let a deformed black eye interfere with trick-or-treating with my kids on Halloween night, so I did what anyone would do. I put on my costume, painted on a second black eye, got on my scooter and went out as a Raccoonicorn.

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The NDF ARTS GALA

October 31, 2019October 31, 2019

I’ll be be honest, it feels like there’s a lot of darkness out there these days. The global state of affairs is increasingly unsettling. The continued threats from fires on a local level are increasingly terrifying. And on a more personal level, the black eye and bruised nose and chin I received a few days ago after slipping at the pool at my gym is a brutal reminder that danger is always lurking around the corner for me with this disease. (Don’t worry, I’m fine. CT ruled out facial fractures. On the bright side, I won’t be needing face paint for Halloween tomorrow.)

I intended to write a blog post with this invitation, but I’m just going to get straight to the bottom line: the NDF has always been and will continue to be my light in the darkness. It is where I find my hope and reassurance. It’s what allows me to live my life and focus on adapting to and coping with this disease rather than having to invest all my emotional energy in trying to find a treatment or cure. The NDF is the balm that soothes my desperation whenever it sets in.

This year‘s gala will once again be held at the Skirball. There will be beautiful art to view and purchase (partial proceeds will go to the NDF), a musical performance by Rana Mansour and two very funny and entertaining hosts, Billy Harris and Kvon.

I know how incredibly busy life is these days. And I know there are so many causes worthy of your generosity. So how about this- if you want to get out for the evening, buy tickets and join me on Sunday night, November 17th. If you can’t make it and you want to still contribute, we’d be grateful for a donation of any amount. And if you are unable to make a financial contribution, feel free to spread the word to others in your community.

No matter how much discomfort there is out in the world, I will always feel so incredibly lucky to have the comfort and support and love from so many family and friends.

Thank you for that gift.

Click here to purchase tickets/donate
https://ndfgala.ticketspice.com/ndf-arts-gala

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Darkness and Light: Where I Find the Joy

August 8, 2019August 8, 2019

I’m not quite sure to what to attribute the extreme joy and gratitude I have been experiencing this summer.

It started on my birthday, about 6 weeks ago, when I woke up fever-free for the first time in seven days. I was just so ecstatic to feel healthy again. It didn’t hurt that I went on to spend a lovely day with my family, riding the roller coaster at the pier and eating dinner by the beach.

My happy streak continued a few days later, when for the first time in so long, I danced the night away at my younger cousin’s wedding. I danced alongside my husband, my boys, my sister and brother- in-law, my dad, step-mother and extended family. Surrounded by love, celebrating love. While dancing. Not bad.

Then, a week later, my husband, boys and I embarked on one of the most magical, awe-inspiring adventures through the Canadian Rockies from Lake Louise to Jasper to Banff. I walked on a glacier, canoed in a lake at dusk, saw bears snacking on dandelions on the side of the road and more. Surrounded by my favorite people. Immersed in the magnificence of Mother Nature’s unadulterated beauty, one of my first true loves.

The fact that it’s summer (I love summer) and the fact that both of my kids are simultaneously genuinely happy with the camps they’ve chosen (somewhat unprecedented) is also likely contributing to my feelings of joy and gratitude.

In fact, I have no doubt that all of the above circumstances are likely playing a role, but there is one fundamental circumstance that certainly is not. Not directly, at least. My disease. It hasn’t magically disappeared nor has it improved. It’s as challenging and uncomfortable as ever. And yet, my current mood stands in opposition to it.

If you read my last blog post, you know how emotionally overwhelmed and physically taxed I felt just a few months ago. I was cycling through that most vulnerable phase of grief- where all the fear, panic and sadness permeates my defensive protective membrane and the weighted awareness of my disease sinks me into the deepest crevices of the vortex. It is there where I inevitably surrender-to the tears and the pain and the loss. I stay there, traveling to the edges of the darkness. And then, somehow, I survive.

As I write this post and truly reflect on why I have experienced such a sustained level of joy in these last couple of months, I realize that it is precisely that phenomenon- the survival of the deepest levels of emotional discomfort-that liberates the most authentic joy from within me.

Discomfort is built into the human experience- muscle wasting disease or not. The sooner you grieve the loss of not being able to live a life free of discomfort, the sooner you live in the emotionally comfortable space of acceptance. Once in acceptance, you can adapt to your reality and experience the comfort beyond the discomfort.

For me, this summer, adapting has meant going to the pier with my family despite the discomfort of waiting (for what felt like) an eternity for the wheelchair lift to take me and my scooter up to the rides. It meant dancing at a wedding reception despite the discomfort of moving awkwardly in my body while holding on with both hands for dear life to my sister. It meant taking an active, adventurous trip to Canada despite the discomfort of having to navigate difficult terrain and missing out on spectacular views from the tops of inaccessible mountains.

There is so much discomfort in the doing of all of these things. And yet, there is so much more discomfort in not doing them at all.

It feels good to experience joy when life is working out the way you want it to. But it’s almost electrifying to experience joy when it isn’t.

I know that this disease, relentless and progressively debilitating in nature, will continue to cast dark clouds over my life. I cannot control how or when they will show up. But I can control my willingness to stay there long enough to feel the sun’s warmth re-emerge and cast its light on the most exquisitely authentic joy out there. In my experience thus far, it has always proven to be worth it for me.

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Emergency Brake

May 10, 2019May 10, 2019

The other night I dreamt that my car was speeding out of control. I was sitting in the passenger seat. There was no one driving. I started panicking when I realized I didn’t have the physical strength to get over to the driver’s side. As I screamed, all I could think about was how I should have installed hand controls sooner.

It doesn’t take a psychoanalyst to interpret the meaning of that nightmare.

It’s been about 6 months since I’ve blogged- perhaps the longest break I’ve taken from writing. I’ve started many posts, only to abandon them midway. Though writing has always been therapeutic for me, it has also become increasingly triggering.

To write is to officialize my reality-to let go of the fantasy of how I wish it were and forcibly accept how it actually is. I know my process well enough by now: when I publish a blog post, it means I’ve moved through yet another, if not many, cycles of grief. And so, I haven’t wanted to write anymore. I’m tired of having to grieve.

I’m tired of confronting my body’s continued deterioration. I’m terrified of where it’s headed. The desperation feels unbearable. For the first time in 13 years, I’ve found myself “bargaining.” I promise I’ll be so grateful if I could just stay this disabled forever. I’m tired of always working so hard to get comfortable with the discomfort, of having to work through my anger at not being able to participate in my life and that of my childrens’ in the ways I want to. I feel like I’ve been a model mourner. I’ve adapted. I’ve learned to stay in the present. I’ve held onto my joy despite my pain. I’ve allowed for the hope that maybe a cure will come along before it’s “too late” for me. And yet, despite all of this hard work, there is no reward. Just more pain and loss. The cycle never stops.

And so I must once again start saying my good-byes. I must accept that the struggles I have now- lifting my arms up to apply deodorant, getting out of my beloved bathtub by myself, taking a tray of roasted potatoes out of the oven, bending down to pick something up off the floor- will sooner than later become cherished memories. I must find the courage to stare ahead at my future and plan for the next round of potential adaptations that are becoming increasingly visible and better defined-using a walker, getting a car that can accommodate a scooter, using the electric lift to get in and out of the pool. I must also find a way to keep making room for the happiness that used to come so much more easily to me.

I can no longer refuse to accept that I have reached this stage of disease progression. It’s a luxury that’s not afforded to me. I don’t get to be that irresponsible.It’s simply not safe.

Last week in therapy, I cried for the first 20 minutes of my session. I didn’t bother trying to speak. I knew the time had come- to surrender, to once again accept my complete lack of control over my body and it’s future. As I sat there, I thought about how, for so many years with this disease, I was so focused on the slowing down. But as I move closer toward the darker depths of disability, it feels as if I’m traveling at an increasingly faster speed and all I keep wishing for now is an emergency break.

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Thankful for you. Please, let’s keep it up.

November 23, 2018November 23, 2018

On Sunday night, November 11th, the Neuromuscular Disease Foundation hosted its most successful event to date. The Gala for the Arts was a sold out evening that brought together exquisite art and beautiful music. It was an opportunity to celebrate honorary members of the GNE Myopathy community along with the exciting $2.5 million matching grant the NDF recently received from an anonymous charitable foundation.

I am absolutely thrilled to share that with over 450 attendees, and many viewers through our live-stream, we were able to raise just over $1 Million towards our goal, making for a total of $1.7M raised so far all year through grants, sponsorships, donations and pledges! This means we are only $800k away from our goal that will allow us to start funding gene therapy trials!

At the gala, I had the honor of presenting the “Philanthropy Award” to David Dahl who was the individual responsible for steering the NDF towards this incredible, rare and highly competitive grant opportunity. In my remarks, I shared how the NDF has evolved from a small grass roots effort that began in my mother’s living room into an international organization with representation in 23 countries around the globe. Quite honestly, that fact still blows my mind. And yet, it’s simply an example of what one community can do with enough passion, dedication and hope.

I personally want to thank all of my dear friends and family members who have been able to show up in all the ways that mean so much to me- physically, financially and emotionally.

We are almost there, but we still need your help. If you have already donated, I am so grateful for your generosity. If you could spread the word to people or organizations who you think may be interested in making a meaningful, tax-deductible donation to the NDF, it would be so appreciated.

I recognize that our world needs so much from all of us right now. On behalf of GNE Myopathy patients around the globe, we are truly grateful for any contribution you would consider making.

Thank you for helping us take these next steps towards our future…

Much love and gratitude,

Jen

CLICK HERE TO HELP US REACH OUR GOAL

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Desperation, Hope and a Plea

October 9, 2018October 9, 2018

I’m going to keep this post short and to the point because I need your attention now more than ever. In fact, I need your help.

A few weeks ago, I attended the 5th annual Neuromuscular Disease Foundation symposium, which brought together patients and scientists from around the world.

It gets harder for me to attend every year. I am no longer the least progressed patient in the room. I see patients who can still walk without leg braces or a cane and I search for vestiges of my former body in theirs. I instead recognize my body and its awkward movements in those of patients farther along. I see my emaciated forearms. And then I am surprised to see upper arms on other patients that have also wasted away. I see the fate that may await me as I watch caretakers, spouses, and parents assist their loved ones- adjusting their eye glasses, feeding them lunch, draping sweaters over their shoulders.

For the first time in 13 years, I looked around the room and started to feel defeated in the battle against this disease. Until Lalé Walsh, the executive director of the NDF, made this announcement:

A private foundation has generously offered the NDF a $2.5 million matching grant to fund gene therapy. Gene therapy is the most promising treatment at this time. Gene therapy offers more than just the potential to slow down progression. It offers us a chance to stop it. A chance to be lucky enough to remain as disabled as we are. It may even allow for mild improvement.

We need to raise $1 million by the end of 2018 in order to receive any of the grant money. That is a daunting number and I do believe we can do it. For patients like me, for our children and loved ones and for our community at large.

Please consider buying a ticket to the “Gala for the Arts“ on Sunday night, November 11th at the Skirball cultural center. Invite others to attend. There will be a paddle raise and an opportunity to donate in person there. You can also donate by clicking the link below. Every amount matters.

I truly hate how becoming disabled has forced me to ask for help on a daily basis, both from loved ones and total strangers. It is uncomfortable and yet, I have no choice. This feels like one of those times when I have no choice but to ask. I will tolerate any level of discomfort to not lose this opportunity.

I am counting on your generosity to make this happen. Thank you for your support. It means everything.

Click to donate/ buy gala tickets