Summer

Diagnosis: IgA immune deficiency, POTS (Postural Orthostatic Tachycardia Syndrome), MCAS (Mast Cell Activation Syndrome), A Herniated disc and degenerative disc disease,and still testing….

My sweet little miracle baby, Ryo at one year old became my saving grace two years ago (in March) when he gave me a giant head butt to the nose/face while playing.  I had already broken my nose dancing several years earlier but comparatively the pain from this was much worse and I was bedridden for several days with sinus pain, blurry vision and a terrible headache. X-rays showed there weren’t any major fractures and they sent me home loaded up with stronger pain pills.

 I started leaking clear fluid a couple of months later out of my right nostril whenever I would exert myself or bend over, started having hot flashes, my vision started going blurry and was having upper neck pain and headaches.  I also was having terrible ear/jaw pain and doctors found fluid in my ears diagnosing them as ear infections.

 After a birthday trip (May) to Universal Studios I came down with increasingly concerning issues such as eye pain, light sensitivity, lightheadedness, a fast heart rate, shortness of breath, muscle weakness, having trouble swallowing, burning in my arms and legs, intolerance to heat/cold, and had fallen three times after tripping over my left foot and I was getting scary numbness and tingling in my arms and legs.

I KNEW something was terribly wrong and after some research I suspected it had to be a cerebral spinal fluid leak, but after numerous tests, they didn’t see anything showing where the leak was and I was having trouble reproducing the leak on command in order to get a sample.  When my neurologist discovered a mass on my parietal lobe when I finally got an MRI they dismissed my concerns about a leak since they are relatively rare. I continued to get more ill after additional spinal tap testing (and more leaking) and I dropped down to 88 lbs and at my worst, and couldn’t stand up without severe nausea and vomiting.  I was so weak I could barely hold my own baby and ended up having my sweet father move in out of state to help me.

 This cascade of neurological symptoms led me to doing more of my own research and I came across a genetic connective tissue disorder known as The Ehlers-Danlos Syndromes (13 different types).  They are generally characterized by joint hypermobility (joints that stretch further than normal), skin hyperextensibility (skin that can be stretched further than normal), and tissue fragility. Chronic cerebral spinal fluid leaks even without trauma are very common in EDS patients due to that tissue fragility.  I was floored.  Everything described me and my body to a T.  

My entire life I have been searching for additional answers regarding my health. From the time I started getting severe “growing pains” and stomach pains in elementary school I knew something didn’t feel right about my body.  I started dancing at the young age of two years old and continued being extremely active and competitive in dance, gymnastics, cheerleading, and dance team until I graduated high school.  Being highly flexible served me well, but I have always been embarrassingly clumsy while not dancing, I have always felt weak physically/mentally in comparison to my peers, and have been constantly plagued by severe fatigue, muscle weakness, terrible anxiety, stomach cramping/stabbing pains, myalgias (muscle pain), bone pain, back pain, joint pain, brain fog, would come down sick constantly, and I was always spraining my ankles or pulling various muscles, and even dislocating ribs.  After coming down with the Epstein-Barr Virus at 14 years old (Mononucleosis) I was never the same.  I thought that daily pain was a normal part of being an athlete and that it was a simple explanation such as lactic acid buildup.

After being diagnosed with endometriosis and ovarian cysts from multiple exploratory surgeries, the the severe feeling of general malaise seemed to worsen and I’ve spent the better part of 15 years trying to figure out why. Doctor after doctor couldn’t give me any answers when standard blood tests would come back normal, and medications and procedures I tried didn’t help for long. It’s my sleep, it’s depression, stress, anxiety, panic attacks, my endometriosis, my fibromyalgia, just IBS, etc, etc…I tried going on various diets: gluten-free, dairy-free, paleo, HCG, Keto, and while some helped more than others (Keto currently is the best) my symptoms never fully went away.  My mononucleosis even reactivated after training for a half marathon, so I was in a constant state of illness when trying so hard to stay active and healthy.

After joining a Facebook support group for the Ehlers-Danlos Syndromes were my eyes opened and I finally knew where to go for help and what testing to get.  My geneticist (who has changed my life) has assisted in getting me the answers I’ve been looking for.  We suspect one of the more rare forms of the Ehlers-Danlos Syndromes (more genetic testing to go) but the testing and referrals he’s given me led to a diagnosis and treatment for the following conditions just in the past year (which explains EVERYTHING):

 IgA immune deficiency

POTS (Postural Orthostatic Tachycardia Syndrome)

MCAS (Mast Cell Activation Syndrome)

A Herniated disc and degenerative disc disease

There is nothing more soul crushing than being treated like a hypochondriac by your doctors, and even your own family unfortunately. It is even worse that patients like me take approximately 10-20 years to be diagnosed and even might have to wait well into their 40’s to for a proper diagnosis.  With this information we have the responsibility to be our own best medical advocate because no one else will.  There is nothing wrong with getting more informed and knowledgeable about your symptoms/conditions.  If you don’t search and push for answers when you know in your heart that something is wrong, you might never find them and your physician might not even be aware they exist.

If there is any advice that I can give, the worst thing anyone can do is judge a person with chronic illnesses (or any person for that matter) by the way they look or how they are living their life.  As normal and “healthy” as we might look, every day might be spent in pain.  Having a smile on our face and just getting up and dressed in the morning might be a huge accomplishment.  Getting ourselves outside, playing with our children, traveling or hiking might be done with the knowledge we may spend days afterward in bed recovering, just in an effort to live life as normal and to the fullest as possible.

Each day, week, and month looks different when you have a chronic condition.  We have various ups and downs, but when we have an up, the last thing we need is to be judged for it.  We don’t want to be sick. We hate being confined to bed. We want to live. We strive to be happy. We wish and pray to be more like YOU.   Please let us, love us, and give us encouragement when we do.

About the author

Gina

Gina began working tirelessly as an advocate for the rare and undiagnosed diseases community several years ago after her and her family moved to Utah. She is the Co-founder and Executive Director of the Rare and Undiagnosed Network (RUN), Chair of Utah Rare, and Utah Ambassador for National Organization on Rare Diseases (NORD).

Gina is currently undiagnosed and the mother of three children with an undiagnosed genetic dysfunction. She is advocating for clinical whole genome sequencing covered by insurance companies and hopes to help rare and undiagnosed families emotionally and financially.

Leave a Comment