A Patient Empowering Journey Part 1

The story of my disease journey will be very familiar to many patients around the world. I was born and raised in a third world country where quality medical care was – and still is – a luxury. During my childhood and as a young adult, the symptoms of my disease ranged from constant leg pains and aches to recurrent headaches and flu-like symptoms that were strong enough to send me to bed for days at a time. Combined with emotional ups and downs triggered by post-traumatic stress from child abuse, I was a perfect target to be labeled as “hypochondriac” by my closest friends and relatives.

Growing up, I never felt physically or mentally limited. I worked various jobs to pay for my expensive tastes in clothes, and loved horseback riding every morning before going to school. I had so integrated the flares of my disease into my life that they went virtually unnoticed by my family. I learned to take care of myself and be quiet when those weird pain attacks hit me so no-one would judge me. After all, I never had a diagnosis of having any sort of disease, so I and others attributed all my issues to my psychological pain.

My independent personality transformed me into a warrior with no fear to explore the world and face the unknown. After my graduation from college, I landed in Europe where to pursue my graduate degree. During those years – my mid 20’s to mid 30’s – I felt great. I had no concerning pains or flu-like episodes, and was able to fully dedicate myself to my studies and living a “normal” life. After graduate school, I got a job with a large international pharmaceutical company. I thrived and excelled at my job, reaching the pinnacle of my pharma career when I got transferred to the USA to develop special projects. I remember those days as the most energetic and achieving in my lifetime. I even trained for a triathlon (until my joints gave up and I had to drop hard core exercise)!

But a couple of months after working at my new important role in the US, I started to experience the same old symptoms: joint pain, panic attacks, and headaches. I also developed environmental and nutritional allergies. I had no idea what was going on. Since I had brilliant doctors and scientists at my fingertips through my job, I took every chance to ask them about possible explanations for my symptoms – but had no luck. This was the start of my painful medical odyssey as a patient with an unknown disease.

I left pharma to help lead the entrepreneurial ecosystem at one of the best medical schools in the world. That jump gave me access to the ‘best doctors on earth.’ But going into the system as a “difficult” patient was also an experience I found extremely frustrating, and at times humiliating. Even the best doctors could not figure out what was going on with me and told me that “it’s all in your head, you need a psychiatrist.” But wait, my physical symptoms are real, I am not making that up… or am I? Self-doubt did not make me stop. I kept asking doctors in my growing network until I finally got an answer through a friend that took the time to listen to me, telling me “I think you have Ehlers-Danlos syndrome hypermobility type,” or hEDS. From that moment of preliminary diagnosis, everything began to make sense. I was able to identify ignored symptoms during my childhood that fit the pathology of hEDS, and remembered an early conversation with a world leading rheumatologist-immunologist from my time in pharma who told me “you may have one of those connective tissue diseases with central pain.

My personal disease story was coming together, but my odyssey to find proper care was just starting. Countless blood work results, MRI, and CT scans showed no abnormalities. Three different rheumatologists offered no solutions. A visit to a geneticist was not useful as my insurance denied genotyping. I was referred to a gastroenterologist who was unable to find visible mast cell disorders in my clinical skin scratch test and overlooked my constipation issues as part of my disease presentation. My general practitioner yelled at me because I offered my opinion on what tests should be done. I started to lose hope in a system that offered no solutions, since my pain was real, progressing, and increasingly debilitating.

Click here for Part 2!


About the Author:  Lina is an international scientific collaborator that has been involved in the creation of more than a dozen
life sciences startups and has worked closely with hundreds of researchers worldwide to evaluate and assess promising technologies and discoveries. Lina’s main area of expertise is translational medicine (from bench to bed) and early-stage company formation (from academia to startup). Lina’s professional experience is mainly in drug development, identification of promising innovation from academia, creation of new companies and early startup growth phase (Novartis, Brigham and Women’s Hospital – BWH, Harvard Medical School – HMS, Emulate inc.). That combined with her personal experience as a patient with a rare disease led her to the formation of TMA Precision Health – a team of several prominent and world leading scientists put together to improve patient care, diagnosis and advance therapies for rare and undiagnosed diseases. She is renowned for her ability to quickly assess and develop compelling strategic roadmaps for promising technology and discoveries with realistic potential to produce therapeutic breakthroughs for
patients, employing a powerful network of research relationships and collaborative partnerships worldwide. Lina holds a DVM PhD from the University of Bern in Switzerland.


 

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