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Undiagnosed: When Your Rare Diagnosis Comes 30 Years Late

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By Rachel O. 

I was born rare, but my zebra journey did not begin until just five years ago at the age of 32. 

Throughout those 32 years, I faced signs and symptoms that something was not right. This started from birth, when my mother pointed out my sacral dimple to her OBGYN, who told her that it could mean a lifetime of health issues, or it could mean nothing. My parents took me to doctor after doctor, but all we received for our time was behavior that can only be described as patronizing, dismissive, and outright gaslighting. 

In 2007, an unrelated medical emergency in college landed me in UMass Memorial Hospital in Worcester, MA. An MRI led to a doctor’s passing comment that he thought I had spina bifida occulta (SBO), but if the MRI is correct, it was an inconsequential diagnosis and did not require a follow up.

I suffered 32 years undiagnosed because doctors in Connecticut, where I live, refused to look any further into my near constant urological and GI infections, the fact that I stopped growing at the age of 10, my small and fine motor coordination issues, my physical clumsiness, my constant back pain and migraines, or my learning disability. And as an adult now, the spina bifida specialists in Connecticut would not treat me because they did not treat patients over pediatric age.

In September of 2018, through my own persistent research, I found the Spina Bifida and Related Disorders Program at Massachusetts General Hospital (a NORD Center of Excellence). By the end of that visit, it was relayed to me by the doctor that he strongly suspected that I had not only SBO, but also tethered cord syndrome (TCS). A subsequent MRI at Mass General in January of 2019 and a meeting with a neurosurgeon confirmed my TCS diagnosis and started me on my rare disorder odyssey.  

My diagnostic odyssey has been a lifelong journey. Doctors failed to look into my symptoms growing up, and it was hard living with constant back pain, weekly migraines, and urological infections so frequent that my pediatrician’s office and staff at Yale New Haven Children’s Hospital knew me well. It was frustrating to spend so much of my time in doctor’s offices, imaging machines, and blood drawing centers. I would often come home sick from school, because whatever illnesses my peers would get, I would also get, but for much longer. I struggled with things that my peers could do easily, such as tying their shoes, zipping zippers, buttoning buttons, and holding a writing utensil the proper way. Unlike the majority of my peers, I was also a special education student with a learning disability in math.

While I was used to my life being the way that it was, the majority of my childhood and adolescence felt like a constant comparison of my life compared to my peers’ lives. I longed to have what I saw as being a “normal” childhood. It caused jealousy and envy that I never shared with anyone.

Even in adulthood, being in and out of the hospital, battling frequent urological and GI infections, spending my days on antibiotics, getting frequent migraines and daily severe back pain, and an emergency hysterectomy at 28, life through my eyes could be summed up by the statement, “It’s not fair.” But I hid my real feelings and was determined to have people view me as someone who soldiered on despite all of my symptoms. 

It was difficult to live with what turned out to be two rare disorders without having answers. Once I had a conclusive answer in January of 2019, my attitude changed. I began to live my life embodying what is inscribed on our family coat of arms in Ireland that reads, “Vulneratus Non Victus!” This translates to, “Wounded But Never Conquered!” 

I share my story because as an adult diagnosed within the last five years with pediatric conditions, I want others to know it is important to not give up on getting a diagnosis. I want to impart to those who are still fighting to remember that the internet is a powerful tool. Yes, the internet can cause fear and anxiety, but it can also help you piece together your symptoms and be educated on possible diagnoses. By being educated in this way, you can then approach your doctor with suspicions as to what your diagnosis may be. Remember that medical professionals work for you. Keep using your voice and speaking up. Keep pushing for the tests and the imaging that you feel is necessary. If the doctor you are seeing does not seem interested in helping you or does not have a knowledge base around your symptoms, find a different doctor. Keep pushing until you are heard and validated. 

It took nearly 33 years for me to get answers, and I am still in the process of getting answers. I want others to have the tools necessary to get a diagnosis more quickly, and not have to go as long as I did living undiagnosed.