Jenny

Undiagnosed Rare Disease

I always knew myself and my family had hyper mobility, and associated injuries but it wasn’t until 2010 after my third high risk pregnancy that I began experiencing a significant decline in my overall health. I had just had my third baby and had began experiencing problems with my heart rate, blood pressure and blood sugar. I blamed the stress of caring for 3 medically complex kids, a husband with a new diagnosis of bladder cancer and the regular stresses of a growing family. Things began to progress into debilitating fatigue, malabsorption, significant unintended weight loss, and a complete lack of control of my autonomic nervous system. The last 7 years I have continued to progress adding on diagnosis’s left and right affecting almost every organ system. Just like my kids I began hearing the words, complex, rare, mysterious, unusual, enigma and unique. If you were to ask most in the medical community they would agree that being unusual is not the desired title you want as a patient. You learn over time that not everyone who gets sick and goes to the dr, receives answers or a diagnosis along with treatment or a medication to manage whatever condition you have. That’s how you assume it works right? Not for everyone and that was a painful lesson to learn. In between Drs appointments, procedures, surgeries, frequent hospital stays and difficult recoveries from infections and viruses which is a story of survival in itself I have learned that regardless of the test results, and titles I hold We still do not understand what’s happening in my body. We don’t know if my children will progress and deal with some of the same afflictions I am. We don’t know how much time I will have or if I will have the chance to grow old with my soul mate. Everything is unpredictable. There isn’t a plan or prognosis that completely fits, or treatments to plan on because there isn’t an umbrella diagnosis for me that connects all the dots or gives us an idea or direction on what’s in store; let alone preventive care. So we focus on surviving each day, finding joy and success in small Miracles and discovering the silver lining in our struggles. We’re still looking for that diagnosis that explains everything happening inside my body and praying it comes soon enough to treat and reverse disease processes taking place and that is where our hope lies. My diagnosis’s are Elhers Danlos syndrome, adrenal insufficiency, hyper andrenic postural orthostatic tachycardia syndrome, interstitial cystitis, chronic hypovolemia, electrolyte imbalance, neurogenic bladder, PCOS, reactive hypoglycemia, MGUS, mast cell activation syndrome, diastolic dysfunction, cranio cervical instability, autonomic neuropathy, peripheral neuropathy, trigeminal neuralgia, migraine, dysmotility, spontaneous pnuemathorax, myopathy, boerrhaves syndrome, and chronic dislocation, inflammation and effusion of all of my joints.

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.

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