My Rare Disorder Life

The story of Rachel

I was born on May 25th,1985. Despite a sacral dimple, a diagnosis of “failure to thrive” and a surgery at 2 to reconnect my ureters to my kidney’s I lived a pretty uneventful life. I had bladder, kidney and uti’s infections regularly but they always went away quickly. I had the nickname in my family of “The Camel” because I could go all day and sometimes a a day or two without using the bathroom. I never felt that urge that I needed to go so I didn’t. We just thought that that was just my body. I had back pain and migraines starting at 7 but that never slowed me down. At 4’11 among my 6 foot tall family members on both sides of my family I never felt that much smaller. For most of you, red flags would be going off in your heads. My parents were worried but Doctors told them they were being too overprotective of me and that I was fine. They needed those words and I grew up believing that I was fine.

In December of 2007 as a Junior in college I was diagnosed with Spina Bifida Occulta. I was told it was an inconsequential diagnosis and would not affect my life. I returned to the activities that I love, Irish Dance, Zumba and Boxing.

My Odyssey did not begin until early August of 2018 when during an Irish Dance class my back came and was so severe so quickly that I could not move or walk I knew something was not right. I decided on my own that the back pain was being caused by my Spina Bifida. After calling every Spina Bifida Specialist in Connecticut and learning that they would not see me because I was 33 years old and not pediatric I made the conscious decision to fight for myself. Continuing my quest for help I found the Spina Bifida and Related Disorders Center at Massachusetts General Hospital. I decided I had nothing to lose.

On August 18th, 2018 I called the Spina Bifida Center and explained why I was calling. As soon as I finished speaking they asked if I could come in to be evaluated on September 7th? I told them,”Yes” and thanked them profusely for being willing to see me.

On September 7th, 2018 I journeyed to Boston to the Center to be evaluated. After a 1 hour evaluation and interview with a Pediatric Urologist he temporarily diagnosed me with Tethered Cord Syndrome and scheduled me for an MRI on January 7th of 2019.

From September to January I tried to carry on as normally as possible. I tried to continue with Irish Dance, Zumba and Boxing but soon I could not walk 10 steps without seating back and leg pain. I had to resign myself to life on the couch taking a pain med every 4 hours.

January 7th, 2019 I underwent a 2 hour MRI at Mass General and the next day at 1:00 p.m. I and my parents met with a Neurosurgeon who officially diagnosed me with Tethered Cord Syndrome. He explained that all of my medical issues as a child were related to the TCS. He told me that I would more than likely never regain my ladder and GI sensation and that by detethering me all he was really doing was keeping me out of a wheelchair for what he hoped would be a few years.

Since January 8th, 2019 my TCS has become the dominant narrative in my life because since that date I have had to learn how to fit all of the other aspects of my life around the effects of my rare disorder diagnosis.

I’ve had to learn how to fit grad school, internship, Irish Dance, friend time, family time around what have become constant appointments, surgeries (my first detethering surgery on February 14th, 2019, surgery in March of 2019 to put in an SP Tube, July of 2019 to take the SP Tube out, surgery in June of 2020 to put in a Mitrofanoff stoma, 3 revision surgeries on my stoma since June of 2020 all of which have been unsuccessful), hospital stays for surgical complications lasting up to 14 days, frequent UTI/bladder and kidney infections requiring heavy doses of oral antibiotics and recently IV antibiotics, appointments with my GI specialist to figure out how to get my body to void, now appointments with podiatry for the severe supination of my feet.

My life since 2019 has been my medical life. An MRI 6 weeks ago to find out why I can once again onmy walk 10 steps at a time before searing back and leg pain set in revealed that I have 6 lipomas throughout my spinal canal compressing my nerves and which have caused my spinal stenosis in my cervical and lumbar spine to sigificantly worsen. My next detethering/spinal canal widening surgery is set for August 25th. Dr. Butler has again made it clear that this surgery will again only buy me time to keep my mobility, it will not fix my TCS completely.

Despite spending the majority of my days in Dr./Special Appointments, Imaging machines, blood draw centers, Surgeries, Hospital stays; although my fashion these days frequently consist of hospital gowns and brightly colored hospital socks I am excelling in my Master of Social Work program at Boston College holding a 3.64 GPA. Some days I do have to use a cane to take my weight off of my back some days while I’m on campus at BC but I haven’t had many days of needing my cane.I am starting back to Irish Dance and Boxing next week and I am heading back to Ireland on August 15th for 8 days. I am focused on trying not to allow my TCS to dictate how I live my life. I am focused on living my life on my terms and on enjoying my life as much as I can.

I am a Rare Disorder Warrior and THIS is my Rare Disorder Life.