Gina Szanuck - Rare & Undiagnosed Network


Gina Szajnuk is the mother of three children with rare and undiagnosed genetic dysfunctions.

RELATED VIDEOS

woman holding a note that someone left on her car that says Handicapped? Low Life!

To the Person Who Left Me a Rude Note After I Parked in a Disability Spot


You left a rude note on my car that said, “Handicapped? Low life!” after I parked in a disability spot. Even though I had a disability placard in my car, it’s clear you still didn’t believe me.

Instead of being upset by it, I would like to take this moment to educate you and to advocate for everyone living with an invisible disease.

I have an invisible and undiagnosed rare disease and so do my three children.

Even though I don’t walk with a limp, every single step hurts.

Even though I’m only 43 years old, my body hurts and I wouldn’t wish this pain on my worst enemy.

Even though I don’t have a name for my undiagnosed progressive, aggressive osteoarthritis in my distal joints, my hands hurt and there is no medicine that makes the pain stop.

Even though I have a torn capsule in my left hip, I refuse to have another hip surgery due to the recovery period.

Even though I have temperature intolerance, I still have to walk in the freezing cold and the intense heat with fatigue and pain.

I could go on and on about why I have a disability placard or why I have it for my children, so I shouldn’t feel like I need to defend it. However, I felt bad having to explain to my three children why someone would be so mean to us.

I actually felt sad for you. I felt sad that there is a person in this world who he thinks someone would falsely put up a disability placard in order to get a good parking space and would take the time to write a mean note.

I’m proud of my disability placard, and I appreciate it every single day. It’s a badge of honor because it proves I have doctors who believe my pain is real and that the pain my children experience is real as well.

I truly believe your note says more about you as a person. This is why I continue to advocate for my children and for all rare and undiagnosed children. We live in a world where people judge you by the way you look. We live in a world where doctors don’t always believe you when you tell them there is something wrong with your child or with yourself.

As a mother of three undiagnosed children and being undiagnosed myself, I will continue to advocate until everyone in the medical system and the public understands what it feels like to live with an invisible disease.

We want to hear your story. Become a Mighty contributor here.

festive christmas sparkler in hand

Rare Disease Doesn't Disappear in the New Year


No, rare disease folks — specifically folks in the rare neuromuscular disease community, like me — cannot heal ourselves with New Years magic. For many of us, a cure and relief is our greatest wish. So when folks insist we “better get better,” or as one former friend put it, “if I prayed hard enough” and “got myself on a prayer list,” or as a therapist stated, “if you and your husband made more of an effort to get out socially and explain to people why you’re so isolated” (as we have done countless times over 20 years, as I am homebound in my wheelchair and experience seizures, muscular rigidity, and pain without relief or a cure), it can make this time of year even more painful from this denial of the reality of rare disease.

Right before Christmas, I had a follow-up visit with my primary doctor. My husband and I had just been at a holiday breakfast in a crowded diner awash in holiday cheer, doing the very best we could to have some semblance of joy and “getting out” to take in some festive fun.

My doc tells me they found a mass on my ovary from an MRI my rare disease specialist ordered in September, and no one had contacted me about it. This example is just one demonstration of why, as much as we may fight, advocate, wish and try, rare disease does not disappear for the holidays. My fellow rare disease warriors and I do not receive a vacation from our diseases; my husband does not receive a respite from his worry, from his sole caregiving labors, from our worst fears.

We might seem “socially isolated,” as this therapist put it, because only a few loyal friends reach out and offer their holiday greetings or a few much-needed and deeply beloved gifts. It is not the fault of rare disease warriors that we are too often abandoned and shunned by the people who fall away from our lives. All of us rare disease zebras need support and compassion and tremendously improved medical help. Many of us do not deliberately discard society during the holidays or any other time. Often, we have been discarded, but we keep fighting like the champions we truly are, against all of the odds, with little to no support for far too many of us — not for lack of knocking ourselves out, as many of you know. Frankly, we should never have to do that. Never.

Dear healthy friends, medical providers, therapists: The best gift you could offer in the new year is the gift of listening to us and remembering our words, our courage, our wisdom, our need for your compassion and your help alongside us as our fellow champions, not as our judges.

We already are miracles, regardless of a cure or no cure — especially because of our strength in the face of social and medical neglect. I invite able-bodied folks to offer acts of kindness and goodness towards rare disease warriors. To me, that’s what the holidays are about.

Image via Thinkstock.

We want to hear your story. Become a Mighty contributor here.

parents hold baby's hands

The Advice I Received That Made Our Family’s Rare Disease Journey Less Isolating


When my son was born, we were so proud and posted photos on social media to share our joy with the world. During his first week of life, we shared only a few photos of our family holding him and everyone smiling ear to ear. Then something terrible happened. He became seriously ill.  

Over the course of the first month of his life, he was transferred from one hospital to another, finally ending up in a major city under the care of world-renowned doctors in a children’s hospital. We were paralyzed with the shock of all that was going on with our child and far away from the ones we loved.

During the next four months, our hospitalized son was subjected to countless consultations from various departments within the hospital and what seemed like endless testing for various genetic conditions. Some of these tests took months to obtain results and were only administered in special labs in various institutions around the country and, eventually, around the world.

Struggling to manage the daily tasks of being a mom and a wife in this type of situation was exhausting. I became withdrawn from family and friends and was overcome with an unfathomable concern for my sick child, the welfare of my healthy child and the lack of any “normal” relationship with my husband while we were in this crisis.

After months of not receiving any definitive diagnosis from the numerous tests that were performed, our son’s health was failing. We were all overcome with the fear of impending doom like a cloud floating over all of us. My husband and I were obviously depressed, my daughter was doing poorly both socially and academically and if something or someone could have shaken us to snap us out of it, we would have been very grateful.

Don’t get me wrong, we were incredibly thankful for the kindness we were shown with the phone calls, cards and prayer circles that were all going around for my son and our entire family. However, being hours away from family and friends and in strange city and sitting over our infant child whose health was failing was, quite frankly, depressing.

But someone did come along. She offered the smallest piece of advice. The advice was not to hide in our grief and to share what we were going through, even if we had to edit the details because we had a community of people who truly cared, even if they were miles away.

I admit I had to ponder the advice a lot because, to say this quite frankly, if you see something that’s unsettling in life, your natural instinct is to turn away. My son’s situation was dire. He was an infant that no one, other than his nurses, doctors and our immediate family, had gotten to know. I wondered how I could express my joy of being a mother with the ultimate sadness of his failing health in a way that our family and friends could digest.

I literally was concerned, like a mama bear, about how everyone would perceive our situation. How silly, right? But my maternal instincts had kicked into high gear, and I was in protective mode.

I ended up biting the bullet, though, and facing my fears by letting our family and friends know what was going on with our son on social media. The support we received was absolutely the most comforting thing we had felt in months. I would post what was going on when I had the time. It felt like a weight was lifted off my shoulders when I put it out there for others to help carry.

We would read the replies and share them with our daughter with smiles on our faces. We were able to find joy in the sentiments that were being thoughtfully written to us. Our family was able to express our joy in the small milestones our son was able to achieve while in the hospital.

When it came time to decide on a bone marrow transplant to save our child’s life, we were able to share this with our family and friends. Yet again, the support we received was tremendous.

I have to thank my stepmother for offering a small piece of advice because it truly did help our family get through some difficult times by sharing our experiences with our family and friends. We’re also very thankful to all of our family and friends for sharing our experiences and helping us through the difficult times.

This was more than five years ago. Social media has evolved significantly with closed groups, support organizations and many more people sharing their experiences and receiving the same hope we received from families and friends.  

I’m grateful for social media because this journey with a rare disease is no longer isolating.

We want to hear your story. Become a Mighty contributor here.

Lead photo by Thinkstock Images

patient lying in hospital bed

When I Told an ER Doctor 'I'm Here Because I Need Your Help'


I’ve never found the emergency room to be a particularly amicable place. It’s an assembly point for people in discomfort, be it from broken bones or food poisoning. However, when you have a rare disorder and a complicated medical history like me, it hasn’t always been the place where I could actually receive help.

I was discharged from the hospital on a Wednesday morning after a routine and scheduled visit to receive all the intravenous treatments I require to continue breathing. By Thursday evening, the symptoms I had initially associated with common side effects of my treatments worsened to such a degree that I reluctantly made my way to the ER.

I say “reluctantly” because even though one would expect someone with a complicated body to feel at ease around doctors and nurses, I’ve found they can dismiss most of your symptoms by claiming you’re “overreacting” or “just looking for drugs” if they aren’t familiar with your condition.

You see, the ER doctors who have treated me simply don’t seem to listen. On that Thursday evening, I told them I’ve been on corticosteroids for several years. Because of this, my body doesn’t always present with symptoms of infection in a normal way, since my immune system is suppressed. I think my first mistake was informing the doctor that I knew this. Some doctors are so used to being much smarter than their patients, so as soon as a patient possesses anything more than common medical knowledge, they seem to be incredibly offended or intimidated. I personally believe this is because they’re aware of the fact that I know more than them when it comes to my body.

The doctor continually sighed when I opened my mouth, and I could see that every time she realized I was about to speak, she wanted to roll her eyes. When I told her my primary specialist was in another city, she continued by saying: “You’re making this very difficult for us.”

I was so overwhelmed by emotions of rage, frustration and, worst of all, helplessness. I was lying in a hospital bed surrounded by doctors who didn’t understand my body and didn’t appear to want to listen to me. But I was lying in a hospital bed, which meant I was depending on them to help me — and it didn’t appear that anyone was going to. I was reluctantly dependent. I was weak. So the only words I managed to utter in response were: “I am here because I need your help.”

I hope that one day the ER will be a place where patients with complicated medical histories like me can get help they need, but until then, I’ll just have to write a post about every single bad experience I’ve had in the hope that someday a medical student, a doctor or a nurse might read it and realize they have the power to break this cycle that some patients may go through.

We want to hear your story. Become a Mighty contributor here.

Megan Zahneis - Life With a Rare Neurological Disorder


Part 1:

Part 2:

Real People. Real Stories.

8,000
CONTRIBUTORS
150 Million
READERS

We face disability, disease and mental illness together.