And The Rare Disease Search Continues.....

Writing a GoFundMe or anything else is challenging, especially while living with cognitive challenges caused by a still unnamed rare disease. Doing almost anything is challenging when no one understands those challenges, including the patients who live with the symptoms of these diseases every day. Even though there are many things I don't know, there is one thing that I do believe, based on what I've been told over the past fifty years. If one CT or MRI had been done as a child, then perhaps that's all it would have taken to change my families path throughout our lives. If these images had been done, I might have been seen as a child with a unique physical illness instead of the person tagged as mentally ill. I know this shouldn't matter, but sadly we all know it does. The stigma surrounding mental illness still plagues our societies and continues to stalk my life to this day.

My name is Sherri; I am a fifty-plus-year-old woman born with a lengthy collection of rare diseases and congenital defects that are invisible to the naked eye. Unfortunately, the mental illness tag and my rare disease symptoms continue to make each day challenging, but they're worth every test. I take every step to survive, knowing there's beauty in this world, especially when it's filled with my family, my friends, and all the people I've had the pleasure to meet through my rare disease journey. I love history, learning, and participating in anything that creates much-needed changes in pretty much anything. I'm passionate about life and the people who are living it, and with your help, I'll get to live a long, long time before I have to give in and call it quits for good.

What Happened?

On January 4th, 2023, in a flash of clarity, I woke in a panic, thinking, "You're forgetting how sick you really are!" As I stumbled to my computer, holding onto the walls for support, little flashes of the past few days ran through my mind. With each image came even more questions, but as I sat at my desk and tried to type, I realized I couldn't control my left hand. The entire message was about 6 or 7 sentences long, but it took forever to write. It was filled with things like, I forget the big and small stuff. Then there's the one where I take my Baclofen to ease the spasms that make it feel like the muscles are being torn from the bone, just to forget to take it again 4 hours later, so I don't have to feel that same kind of torture again. When the medication kicks in, I can move, go, and do almost anything, but the pattern cycles repeatedly. When the note was finished, I emailed it to myself so I'd know where to find it when I got to the ER, just in case I forgot again.

After a long, 20-hour, scary wait, I was seen by a Neurologist who likely saved my life with what he did. He was kind when he said your other diseases, such as Hydrocephalus, Ehlers-Danlos Syndrome (EDS), and Tarlov Cysts, could play a role in this; they weren't to blame. As he did his neurological exam and saw the problems I was having with everything, he told me, "The next time you go to an ER and ask to be seen for this same problem, tell them you need a Rheumatologist, not a Neurologist because what you have is being caused by inflammation." That's when he sent me home with a strong dose of Prednisone. Three days later, everything, and I mean absolutely everything, changed!

On day four, I awoke to a brand-new but old and familiar feeling. I could smell the music playing in the kitchen as I heard my family preparing to start their day. When I came into the room, I was almost shocked into silence by what I saw. Suddenly, it's like I could really, really see! The lights seemed brighter, the kids were taller, and I could dance! I played with my grandsons as I helped them get ready for school. With each thing I said and did, I could see the shocked looks on their faces, but I could tell they were happy to see their Nana this way. That's when I realized they didn't know the real me. I don't know who I'd been, but it wasn't this person who is writing this today.

Even though I now look forward to everything life offers, some lingering questions still need to be answered. I'm hoping you'll help me finally solve them. These questions begin with the thought if anyone had done a simple MRI or CT when I was a child and understood what they were seeing, they would have known I was living with a congenital Tarlov Cyst in my sacrum before I was thirty-nine years old. Doctors could have seen it when I was five years old when my mom started taking me to our family doctor complaining of leg pain. Still, instead of a scan, we were told what I had was simple, growing pains.

Sadly, for me, two things seem to come with the most rare diseases: judgment and a lack of access to compassionate health care. Especially if the illness you're looking for help with is invisible.

It's taken me forty-five years to realize how difficult it is for our society even to consider the pain, the problems, the barriers to care, and the denials for community support because we're unique and challenging to describe. This list of obstacles, plus many more, cost lives around the globe.

This is another part of why I'm publishing this GoFundMe, so my family and I can survive our rare disease, but I'm also doing this to help others like us describe what they face because it's never easy to explain why we're having so many problems finding access to healthcare when our diseases are invisible. Too many times, I hear people say, if your health was that bad, then why aren't you in the hospital? Where's the proof? You'd be amazed to know how many people are forced to accept a wheelchair into their lives without any explanation of "why can't I walk?"

I am here to ask for your help to access the care I need in the private healthcare system, which I can't afford because I've been so sick, even sicker than I'd realized, for too long.

Throughout my lifetime, I've repeatedly lost everything I'd worked so hard to achieve because of uncontrollable flares that cause extreme headaches, body pain, fevers, vertigo, dizziness, nausea, anxiety, depression, and even uncontrollable panic attacks. I didn't know until recently that my disease is in my central nervous system, brain, and spinal cord; between them, they've made life more than just tricky. They've made a large part of my life into a series of ongoing traumas I've never had any control over until possibly now. As with almost everything, there's a good and bad in everything. The good in this is the possibility of treatments to treat these specific types of problems; if I can get to the right doctors, there's a good chance I could heal. I could help protect my family from the same issues I've lived with for five decades. Then we could recover, learn to heal and deal with all of this like a family should, as we would.

There's another common thing that most people don't understand about rare diseases; most of them are genetic. Not all conditions are genetic, but the people I love the most and I am living with many of the same symptoms, the same medical findings, similar medical history, pains, and physical and emotional challenges that I've lived with for a lifetime. With your help, we can all find a way out of this so we can live at least some of our lifetimes without the suffering caused by these hidden, consistently ignored, unnamed and invisible rare diseases.

With your help, we would have the money we'd need to access the specialist care we need, which may require travelling out of the country to Mayo or the Undiagnosed Disease Network in the US if we can't find the care we need here in Canada.

With your support, we can cover the costs of private care locally to get us through our personal health crisis until my health is stable again. We'll have the money to cover the costs of mobility aids, medical devices, medications, transportation arrangements, food, and other things required to make these events easier to manage.

Your support would also help us cover the costs of what isn't covered for personal attendants who would need to be there to accompany multiple people struggling with differing mobility and physical challenges. While your support would also allow us to use this opportunity to do this as a family.

At a time when most people are struggling, we know that what we're asking for is a huge ask. In that case, you'd be supporting a family filled with a passion and drive to work as advocates for those who've helped us the most, which is always the people who we consider family, and that is our family of rare disease patients who are 3 million strong in Canada, and approximately 350 million strong around the world!

Together we are few; together, we are all stronger!

With Gratitude from the Jones'

Sherri, Ken, Khellen, Bubba, Soren