Meet Me!
Hi! My name is Danielle, but on Instagram, I go by @chronically_nell (Nelly/Nell is what my family calls me). I’m 24, from NB, Canada, and I’ve been dynamically disabled since birth, living with multiple rare, hard-to-treat conditions.
Navigating the healthcare system while managing rare illnesses has been an ongoing journey, full of unique challenges and unexpected turns. Here’s my story of living with congenital conditions and how it has shaped my life.
My Conditions and Diagnoses
I have BMP2 dysplasia spectrum disorder, spondylosis, fibromyalgia, reactive hypoglycemia, bile gastritis, esophageal dysphagia, pectus excavatum, taurodontism, congenital heart disease, suspected Reynaud’s, and severe scoliosis. With three failed surgeries, I am now in severe pain and debilitated. They also believe I have a connective tissue disorder but haven’t yet identified which one.
Early Health Challenges
My health issues started as soon as I was born. I was born with congenital heart disease that required open-heart surgery at 8 months to repair two holes in my heart. Doctors also noticed skeletal and chest wall abnormalities, which prompted a referral to genetic specialists.
Living with BMP2 Dysplasia Spectrum Disorder
Throughout my life, I was closely followed by specialists in genetics, orthopedics, cardiology, and rheumatology. They eventually diagnosed me with BMP2 Dysplasia Spectrum Disorder, a rare genetic condition. My geneticist explained that only 34 people worldwide are known to have it, although many more may have it undiagnosed due to milder symptoms or lack of access to genetic testing.
Childhood Challenges with a Rare Disorder
Living with rare conditions made childhood challenging. My BMP2 dysplasia heavily affected my skeletal system, causing issues in my heart, spine, joints, muscles, and digestive system. I faced joint problems, muscle weakness, large dental abnormalities, respiratory issues, limited mobility, chronic pain, and esophageal issues.
Struggles to Keep Up
While I tried to keep up with my peers, it was a constant struggle. I participated in sports and even took ballet classes, but I never quite matched the pace of others around me. In dance class, I watched my peers progress to higher levels while my fatigue and pain held me back. Eventually, I had to stop all sports activities.
Physical Limitations and Pain
Some days, I couldn’t even bend my knees from pain, and moving in certain ways felt like my joints were being dislocated. These limitations reminded me daily that my body was different and made physical activities a constant source of frustration.
The Challenge of Finding Medical Care
One of the hardest parts of living with rare conditions is the lack of proper medical care. Few doctors are familiar with my conditions, leaving me without treatment plans that address my unique needs. It often felt like I was educating my doctors, rather than receiving help. At 18, the children’s hospital never referred me to new doctors, leaving me feeling alone in the dark with no medical support.
Scoliosis Diagnosis and Surgeries
At 12, I was diagnosed with severe scoliosis, needing surgery for an 80-degree spinal curve. By high school, my pain worsened, but doctors didn’t X-ray my back until 2019, when they found that scoliosis had returned, along with spondylosis and two loose screws.
In 2022, I had another surgery, but woke up in extreme pain, unable to move my leg. After two weeks, I was discharged without answers and left bedridden for seven months, as I couldn’t travel the three hours back to the hospital. Eventually, they discovered a screw was too tight, and a later surgery removed two screws, providing some relief. Despite two years of asking doctors, it took until recently to get an MRI, which showed another screw pressing against my spinal cord. I now finally got a referral to an adult orthopedic surgeon where I continue to wait for the next steps.
Living with Extreme Pain and Limited Mobility
Living with this extreme pain, I can’t sit up for more than two hours, and lying down is just as difficult. My mobility is severely limited, impacting even the simplest daily activities.
GI Issues and a Long-Awaited Diagnosis
My GI issues also went undiagnosed for six years until this year when a new specialist diagnosed me with bile gastritis and esophageal dysphagia. Swallowing is nearly impossible now, and eating has become my hardest daily task and as a result, I have developed reactive hypoglycemia. My energy has dropped significantly, and my day revolves around attempting to eat, sitting up for two hours, lying down for 40 minutes, and repeating this cycle.
The Ongoing Struggle for Adequate Care
The ongoing struggle to receive adequate care, especially for conditions that doctors don’t fully understand, has made my journey through the healthcare system incredibly difficult.
Finding Support and Strength in Online Communities
Living with multiple rare and complex conditions has shaped every part of my life. Despite these difficulties, one of the most uplifting parts of this journey has been finding online communities of people who share similar struggles. Connecting with others who truly understand what it’s like has been an amazing source of support and comfort, helping me navigate each day with a little more strength and hope.
Raising Awareness for Rare Diseases
By sharing my story, I hope to raise awareness of the unique needs of people living with rare diseases and highlight the critical gaps in the healthcare system. Navigating the world with rare illnesses isn’t easy, but it’s a reality that many like me must face every day.
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