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  • Writer's pictureyannick-robin eike mirko

meeting someone with my rare disease




2 83 days until Rare Disease Day.


Hello friends, happy Monday. I hope you had a restful weekend. I am going to share a voice recording from the Living Rare Summit in Washington, D. C. I was in. Earlier, about a month ago, thank you to the National Organization for Rare Diseases for allowing me to share this with you. This is from when I met someone with the same rare disease as me, which has never happened before that moment.


I've only been diagnosed for about two and a half years now. I might have met someone in passing unknowingly, but since my diagnosis I haven't known anybody else with a rare disease, much less with the same one as me. And given how rare it is, I didn't think I would ever have that moment. Luckily the keynote speaker for Nord's event was someone. who has a diagnosis like mine. And I was lucky enough to meet her after she spoke, which was very emotional. I didn't anticipate crying.


It was nice to have a hug with someone and have them immediately say, "do you know how rare we are?" In my ear. Quite wild. Hopefully there's a future where I have a conversation with Connie to share with all of you. For now, I will leave you with a portion of the keynote speech from that event. You will probably hear me crying in the background, as I was holding the mic while listening to someone talk about the symptoms that I have for the first time, and I guess I may have lost myself in the moment at some points. So if you hear crying or just honestly anything from me, ignore that. I am having a moment. So, this is Connie addressing her parents, sisters...


"...brothers, an individual living with a rare disorder and or caring for someone with a rare diagnosis. The moments when we walk roll or lie down. We are not alone. We have each other. That bears repeating. We have each other. Now look at your neighbors in this space and on the count of 1, 2, 3, say it loudly and say it proudly.


We have each other. We have each other. We have each other. We have each other. Yes we do. Historically, persons and families experiencing the rare life were set aside. Hidden away and very little, if any advocacy was noted, medical clinicians, journals and organizations learned that we value our lives, our loved ones and witness that we in the rare family will be seen and heard.


Our needs, experiences and findings will be reported and attended to with compassionate healthcare. God are the days when we will feel and be forgotten or marginalized. We are subject matter experts who partner with our health care practitioners for the best health outcomes. Here is my rare story.


During my school age years, I experienced nosebleeds. Very embarrassing nosebleeds. Epistaxis, doctors call it. I could 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 made certain no blood was on my clothes, and I left the bathroom stalls as I found them.


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 could happen. You can laugh here, or smile. Humor 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.


I would use all the tissue. And paper towels I could find to clean up the blood. This became my one to two time per week normal activity, especially during the pubescent years. I missed a bit of school and frequently bled on and through my clothing. All the while I was always cold. You guessed it due to anemia and tired.


But I knew I had to press cold. Now, right here, I'd like to stop and engage everyone so we all can say something that I truly, truly believe. We are resiliently rare and we rock. So on the count of three, let's say that one, two, three. We are resiliently rare and we rock.


My mother had become a single parent of four girls after 14 years of marriage, and she did not need any additional stress from me. My dad could not find a local job with his educational level that paid well. So after years of him traveling for 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 but looked back.


She was fiercely independent and proud at almost 80 years of age. My mother, Willette G. Montgomery, died October 20th, 2021. While my co author, Risa Talbert and I, was writing the book, You're Not Just a Number, putting care back into healthcare. A few outrageously desperate times, my mother and I tried to explain to our family doctor Discreetly about what was happening to me, but it never felt like he was listening and he didn't ask additional questions.


That 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. In this case, my mother was suffering as well. Let's repeat it again on the count of three.


One, two, three. We are resiliently rare, and we rock!


When I grew from a child into a young adult, the dentist noticed that I bled significantly after removing my wisdom teeth. But did not feel like it warranted further evaluation and treatment either. All the signs were there that something was terribly wrong, but every healthcare professional missed it.


Most of the time, the doctors frequently spoke to me saying I was anxious and exaggerating about my condition. My mother believed and taught us, "that is why you do not tell people about your illness or sickness. Because people will make unkind judgments about you. They will think you are weak and we do better to take care of ourselves."


My mother would often say, 'I learned at a young age that what happens in the family stays in the family. We do not put our family business on the boulevard.' And unfortunately, the doctor's treatment of me and my mother reaffirmed my mother was correct or so it seemed. Based on the doctor's response to my situation at that time.


Therefore, for a long time, following my school age years, I never even mentioned my bleeding issues and rarely went to the doctor. I bled throughout my pregnancies. And every obstetrician gynecologist, he, the first time when I had my son bleed, and she, the second time when I had my daughter , So with each new birth, I selected a new obstetrician gynecologist who I thought would truly listen to what I was sharing about my body.


They did not. I just coped in silence and worked hard to finish college and start my career as an occupational therapist. Thirteen years of working two jobs. Being married and helping to raise our two Children wore me down fast. I just kept going, though, like the energizer bunny while putting my health needs on the back burner.


I'm not even on the stove. Then it happened. I got in a car wreck on the back roads of Williamsburg County in route to Charleston, South Carolina. And my world was turned upside down, literally and figuratively, 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 beach.


Needless to say, I was terrified and totally upset. Many good samaritans that 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.


On the count of three, let's say it again. One, two, three. We are resiliently rare and we rock! Much to my surprise, the car accident saved my life. Because I learned I had not one, but two rare disorders, rare factor seven deficiency and pemphigus vulgaris. The emergency room doctor noted my bleeding was not stopping, so he ordered a series of tests that included a prothrombin time test and a hematologic consult.


I had a rare congenital bleeding disorder. Congenital? You mean I was born with it? Absolutely. After many visits to MUSC to see two dermatologists at the request of my new family doctor in Garden City, they discovered my rare autoimmune disease, pemphigus vulgaris. I got weeping sores in all the soft mucous membrane tissues of my body, including my mouth.


But once again, I pressed forward and knew I had to make it, regardless of my health challenges. Soon, I received the medical care. education and a lot of medication, which included weekly infusions of Nova seven R. T. Intravenously, I began to feel so so much better. My quality of life improved immensely.


Then I attended the conference in 2011 for bleeding disorders in Chicago, the National Hemophilia Foundation's annual meeting where I was inspired by others. diagnosis, sharing their stories and their health care journey. Soon I became an ambassador for NHL excellence for the year of 2015 excuse me, 2014 right here in Washington D.


C. I was on at their annual meeting and it takes a village award of excellence for the hemophilia Federation of America in Cleveland, Ohio. So regardless of what adversity we face daily, we hold tightly to each other in our rare community and move forward. Yes, there will be those days when we have to muster strength to get up and try again with life.


But we must, and we can, resiliently move forward. While you are here, meet some friends. I did this morning. If it was not for Jess. Jess, where are you? And Rebecca, they helped me get to this point because I didn't know where I was going. Um, get some cell phone numbers, make some contacts, contacts, and let's continue to build relationships and resources from within.


Take the lead and be well, because humanity needs our courage. Truly, we are stronger together. Now, on the count of three. One last time. Let's say it. We are resiliently rare and we rock. We rock. My definition of rare. I want to go through and show it to you. This is me and my family. And notice this quote here that says that your diagnosis does not define your possibilities.


Absolutely it does not. My definition of rare is resilient people with real aspirations, revolutionizing every day. Now, let's get this party started. Cue up the music. Y'all dance it off with me. That's my favorite pastime, dancing."


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1 commentaire


Invité
22 mai 2023

I love this.

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