Diagnosis

Rare disease hiding in plain sight.

Infections. Fatigue. Hospitalizations. These were the norm for me growing up with an undiagnosed disease. As a child, I dealt with frequent ear infections, sinus infections, and bronchitis. A common cold would almost always turn into a more serious illness and one round of antibiotics rarely cleared things up.

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When I was seven, I developed pneumonia and a collapsed lung. Asthma. Allergies. These were all cited as common childhood illnesses by my pediatricians. For me, feeling run down and sick was normal. Going from one illness directly into the next was common. I didn’t realize this wasn’t what all kids experienced, all of the time.

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In high school I caught mono (Epstein-bar virus) and spent my entire senior year only able to stay awake for four hours a day. During my high school graduation I sat there in the crowd with an intense relief. While other students were excited to move out, go on vacation, and begin new lives– I looked at the completion of high school as a chance to rest. Literally. I wanted to go home, peel off my cap and gown and take the longest nap of my life.

First Major Hospitalization in 1997

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Not long after my first semester at a local community college, I came down with a severe case of bronchitis and had to take medical leave. I realized I deserved more than an ambiguous diagnosis with no treatment. I was not dragging my broken body through adulthood the way I’d done it through my adolescence. So I set out to see as many specialist as I could to get a diagnosis.

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At nineteen, after seeing rheumatologists, gastroenterologists, allergists, general practitioners, and ENTs I was seen by an infectious disease doctor who began the process of testing me for a rare condition called Primary Immune Deficiency Disease. After a few weeks, I finally had an answer. I was diagnosed with hypogammaglobulinanemia. This rare condition means the patient lives with an immune system in which not enough gamma globulins are produced in the blood (thus hypo- + gamma + globulin + -emia). This results in a lower antibody count, which impairs the immune system, increasing risk of infection. This explained so much: why I was always getting sick, why I couldn’t make a full recovery with just antibiotics, and why nothing we had tried to naturally improve my health had worked.

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I was immediately sent to a nearby hospital to begin plasma transfusions to start replenishing my body with the missing immunoglobulins I needed to function and fight. Although IVIG was not a cure, it was a treatment. I consider myself lucky, because even though it took 19 years for me to get an answer, my rare disease is one of the 5% of rare diseases which has an FDA approved treatment. I’ll still spend the rest of my life fighting infections and being cautious around crowds and situations where I’m more likely to contract them, but I now have the necessary tools and care to have a chance at living a more normal life.

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Getting the first IVIG infusion.

Looking back, I experienced so much medical gaslighting where doctors assured me and my family that my suffering was normal, my complaints were bothersome, and my symptoms were my own fault. I had been told I was taking my antibiotics incorrectly or I wasn’t trying hard enough to get better. But the reality is that if my doctors had just stopped, assessed my medical history and done the necessary tests – so much of my suffering could have been avoided.

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My disease may be rare, but my story and what I experienced as a patient looking for answers is all too common. This is why my career, book, and continued advocacy focus so intently on empowering patients to ask the right questions, fight for their right to testing, and to not feel discouraged on the long diagnostic odyssey.

Secondary Diagnosis

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Not long after my PIDD diagnosis, I took the same initiative to try and understand a lifetime of abdominal pain that had also caused so much disruption to my life. Because I had a family history of endometriosis, I was fortunate enough to be taken seriously by our family’s gynecologist. He agreed to perform an exploratory surgery on me to see if (like my mother, and my aunt) I had developed the condition as well.

Looking for answers.

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During what was supposed to be a short half hour surgery, my mother and boyfriend waited outside the operating room for four hours waiting for word. When my gynecologist finally came out he explained that what he’d found was not endometriosis.

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Instead, he’d found a mass of scar tissue connecting almost all of my abdominal organs. For four hours he worked to disconnect stuck tissue in my intestines and colon before closing me back up and urging me to find a colorectal surgeon to remove the rest of the adhesions. He sent a sample of the scar tissue to a lab to see if it could give us some explanation as to what had caused the adhesions. I’d had no prior abdominal surgery, no known infections, and no trauma to the area. The tissue was not endometriosis or cancerous. It was just inflamed scar tissue with no known cause.

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Grand rounds at University of Miami for a medical mystery

Over the next several years the scar tissue would continue to grow up throughout my body like a vine, strangling organs like my appendix, then my gallbladder and my fallopian tube. It grew again across my bowels and required multiple surgeries to remove since there is still no known treatment or cause. The same tissue would appear growing in my right eye over the next decade and would require two more surgeries. To this day my doctors and surgeons are perplexed by what causes the adhesion growth and after two rounds of whole genome sequencing and the finding of a variant of unknown significance– we are still without answers.

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In my twenties, I would also develop co-morbidities to the immune deficiency and adhesions including Dysautonomia and gastroparesis.

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Check out these videos on how I’ve coped with medical gaslighting, learning how to work with my medical team, and keeping my confidence afloat when chronic illness gets overwhelming.

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@ilana_jacqueline

Growing up undiagnosed. What’s your story? #medicalgaslighting

♬ Quirky – Oleg Kirilkov

@ilana_jacqueline

When you go from helpless patient to helping patients. #chronicillness

♬ original sound – ilana_jacqueline