Connie Montgomery’s late diagnosis with two rare diseases: factor VII deficiency and pemphigus vulgaris
For years, Connie Montgomery experienced heavy nosebleeds and other symptoms that regularly disrupted her life. The cause remained a mystery until the day of a car accident. Only then did she get the tests she’d needed for so long. At the age of 35, Connie was finally diagnosed with two rare diseases. She has been a tireless advocate for her community ever since
By Connie Montgomery, global patient advocate, author and retired occupational therapist
A hidden burden
During my school years, I experienced embarrassing nosebleeds. Epistaxis, doctors call it. Once or twice a week, I would feel the river of blood beginning to flow, and I would excuse myself from class and hide in the bathroom until it stopped, usually in about 10 to 15 minutes. I would make certain no blood was on my clothes and I would leave the bathroom stalls as I had found them—I used all the tissue and paper towels I could find to clean up the blood.
This went on for years and I just dealt with it the best I could… Imagine living in fear of never knowing when the next bloody occurrence would happen! You can laugh here or smile—humour and secrecy is definitely how I made it through those years! However, I do not recommend the secrecy; it is too much of a burden to hide those things that could eat away at your peace of mind.
Especially during the pubescent years, I missed a bit of school and frequently bled on and through my clothes. All the while, I was always feeling cold (due to anaemia) and tired, but I knew I had to press forward.
A fruitless search for help
A few outrageously desperate times my mother and I tried to discreetly explain to our family doctor what was happening to me, but it never felt like he was listening, and he didn’t ask additional questions. It was extremely difficult for my mother and me to ask for help. We are a proud family and we keep our affairs in the home. However, we were in despair, and suffering in silence did not help.
Most times, if a child is suffering so are the parents, as was the case with my mother. She had become a single parent of four girls after 14 years of marriage and did not need any additional stress from me. My dad could not find a local job with his educational level; after years of him travelling with his job from state to state, my parents divorced. My mother got three jobs to support our family and never asked for help from our dad or looked back—she was still fiercely independent and proud at almost 80 years old!
When I grew from a child into a young adult, the dentist noticed how I bled significantly after he removed my wisdom teeth but did not feel like it warranted further evaluation and treatment. All the signs were there that something was terribly wrong, but every healthcare professional missed it.
Most of the time, doctors told me that I was anxious and exaggerating about my condition. This reaffirmed my mother’s culturally ingrained belief that she had passed to us. “You do not tell people about your illness or sickness because people will make unkind judgements about you,” she would often say. “They will think you are weak, and we do better to take care of ourselves.”
I learned at a young age that what happens in the family, stays in the family. From the age of about five onwards, I would often hear, “We do not put our family business on boulevard!” And unfortunately, the doctor’s response to my situation reaffirmed that my mother’s attitude was correct—or so it seemed to at that time.
Therefore, for a long time following my school years, I never even mentioned my bleeding issues and rarely went to the doctor. I bled throughout my pregnancies… month after month I would tell my obstetrician and my gynaecologist, but they were not helpful. So with each birth I selected a new doctor who I hoped would truly listen to what I was trying to share. I never felt like they cared to hear what I had to say about what was going on with my body. I just coped in silence and worked hard to finish college and start my career as an occupational therapist.
“My world turned upside down”
Thirteen years of working two jobs while also being a wife and mother helping to raise my two kids wore me down fast. I just kept going like the Energizer bunny, putting my health needs on the back burner—or not even on the stove!
Then it happened! I got in a car wreck on the back roads of Williamsburg County en route to Charleston, South Carolina, and my world was turned upside down… literally! I swerved to miss a car filled with young men coming into my lane on a two-way highway. As I moved out of their way, I landed in a large canal ditch. Needless to say, I was terrified and totally upset! Many good Samaritans who resided close by came to my rescue. They were amazing and so kind to me. I will never forget their compassion and unselfishness when trying to get me out of that ditch.
The ambulance got me to the emergency department and the evaluation and treatment began. The ED doctor noted my bleeding was not stopping, so he ordered a series of tests that included a prothrombin time test to measure how long it took a clot to form in my blood sample. He also arranged a consultation with a haematologist.
Much to my surprise, I learned from him that I had factor VII deficiency (a rare congenital bleeding disorder). I was 35 years old. The doctor cared enough to look into my symptoms and that started a chain of events that would change my life. While the car accident seemed a burden at the time, it ultimately proved to be a blessing.
The investigations that followed afterwards showed that I also had hypertension and diabetes. Then, after many visits to see two dermatologists at the Medical University of South Carolina, they discovered I had another rare disease, an autoimmune condition called pemphigus vulgaris. I finally had an explanation for why I got weeping sores in my soft, mucous membrane tissue of my mouth and other parts of my body.
Helping others through their health challenges
I was overwhelmed and extremely depressed when I heard the news about my health. But once again, I pressed forward. In 2011 I attended a conference in Chicago for people with bleeding disorders, the National Hemophilia Foundation (NHF) annual meeting, where I was inspired by others with similar diagnoses to share my healthcare journey.
I knew I had to make it through my health challenges so I could help others to do the same. Soon, with the medical care I had needed for so long, with education and with a lot of medication, including weekly infusions, I began to feel so, so much better—my quality of life improved immensely!
Now set on my advocacy journey, I became an ambassador and NHF educational programme consultant. At the annual meeting of the NHF in 2014, in Washington, DC, I was the National Volunteer of Excellence, and at the 2018 annual meeting, in Cleveland, Ohio, I was awarded the “It Takes a Village” award of excellence.
Connie detailed her full RARE healthcare journey in a book entitled You’re Not Just A Number – Putting CARE Back Into Healthcare, written with her friend, Risa Tolbert. They want to inspire healthcare professionals to think about what it means to care for others in a compassionate way.