#RAREDISEASEDAY: What Could YOU Do With 100 Days?
What could YOU do with 100 days?
“John Thibault Advocacy Solutions, Inc. and my research is dedicated to my oldest son, Jaden--who was my earliest taste of how beautiful 'rare' can be, and how rare beautiful has become in our world.” - Jessica Fehrenbach
Understanding genomics while growing Advocacy Solutions, Inc. has unexpectedly become my life's work. I would not be here without my beautiful children inspiring me every single day.
In honor of Rare Disease Day on February 28th and in Acknowledgement of the following patient, their family, my research of Human Genomics within my role at John Thibault Advocacy Solutions, Inc., what follows is an update of the sum of what I’ve accomplished. I hope you will enjoy reading about this as much as I have enjoyed being a part of it. It is truly an honor to have been entrusted by this patient for my role in their healthcare team. I consider myself fortunate to have known at least a few of the MANY brave, rare, and beautiful people affected by Rare Disease.
Ultimately--as you can see--I decided to make this post. To me, Advocacy takes on many forms. There is no right or wrong way to be an Advocate for someone or something you believe in. One of the ways you can Advocate for change is by promoting awareness and sharing your story. And so--in three days on February 28th is National Rare Disease day. It is ironic how close I came to that date. When I woke up today I did not believe I was any closer to solving this case than I was last week, or the week before. The progress had stalled as I tried to figure out technical specifications of bioinformatics pipelines and analysis software which requires completing extensive training before understanding it's use. So, I am thankful that I took the time to put this together--including the screenshots for anyone who would like to read some of the de identified information.
As an Advocate for Complex, Undiagnosed, and Rare Disease patients everywhere, I hope you will take the time to learn about Rare Disease and Genome Sequencing on February 28th. Maybe you'll pause and read an article that comes across your timeline because you saw my update today. Maybe you'll be a little kinder to someone you know who seems to have health problems but no real answers as to why or how to treat them. Maybe you'll make an appointment with a genetic counselor because you identified with something I told you about today. Or maybe you will just keep this in the back of your head in case it's useful for you down the road.
Regardless of what you take from their story and my small role in their healthcare needs--I would have been doing Rare Disease patients a disservice by not reminding the masses that they exist among us. They are often suffering from invisible or entirely misunderstood diseases. Some of them have diseases that we learn exist because they are the very first people in the world who have been affected by it. Can you imagine how scared you would feel to receive a serious, life-threatening, or uncertain diagnosis of a gene or disease that nobody had even heard of? Or nobody had even hypothesized "might" exist? Often these findings are incidental, and the "diagnosis" or "genetic discovery" yields more questions of 'what will happen' to the patient rather than providing a path to treatment. Unfortunately, being rare in medicine leaves much to be desired--and you 'write the textbook' for what your disease or gene does. I was able to reach the conclusion of this patient's diagnostic odyssey in time to promote awareness of February 28th. I have been touched by the consequences of what modern medicine poorly understands. I know what it feels like to be called 'crazy' due to fear or misinformation by academia.
I am a Christian, a Mother of four beautiful and unique children, a Critical Care Paramedic, and the Case Manager for Complex Disease of John Thibault Advocacy Solutions, Inc.
Yet, in practice and ever since I can remember I have been an Advocate. I have loved to help others and never felt like I was working toward reaching my full potential unless I was working toward improving the outlook of someone's life. I am where I was supposed to end up in life, and I am happy. Thank you for your time, support, criticism, and encouragement.
#RareDiseaseDay is February 28th. I can’t wait to see what happens next.
#100days — Let's Roll.
Best,
