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  • Writer's pictureJessica Fehrenbach

100 Days.

Updated: Oct 7, 2023

WHAT COULD YOU DO

...With 100 Days?

 

John Thibault Advocacy Solutions, Inc. engages in unique Concierge Case Management practice that also conducts Applied Clinical Research. This case report derived from a case study, and all of the works related it are dedicated to you Jaden; because you were my earliest taste of how beautiful 'rare' can be-- and how rare beautiful has become in our world.”

-Jessica Fehrenbach

 

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 a few of the MANY Brave, Rare, and Beautiful people living with Rare Diseases.


Understanding genomics while growing Advocacy Solutions, Inc. has unexpectedly become my life's work. I would not be here without family and friends inspiring me every single day. In honor of Rare Disease Day on February 28th and in Acknowledgement of the male proband's willingness to share their PHI (pictured👇🏻below) for scientific and educational purposes.

 

I would also like to thank their family for their willingness to provide some of the documentation I'd requested for familial follow-up testing. Of note, due to their families, noncompliance with follow up, recommendation to cause pathogenicity by the molecular geneticist this greatly hindered the patient receiving a pathogenic molecular diagnosis and clinical diagnosis.

 
 
 

This challenging diagnostic odyssey benefitted from 30x Whole Genome Sequencing (WGS) with expert variant interpretation and tertiary data analysis of Variants of Unknown Significance (VUS) with low population frequency.

 

I ultimately decided to make this post despite contending with my own reservations about it's reception. To me, advocacy can take on many forms. There is no right or wrong way to become a Peer Advocate. Promote awareness by telling their story as if it were your own misfortune. Demonstrate genuine empathy and remind your social circle: 3 days from now 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. (Shown above).

 
 

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. My life has been personally touched by rare individuals who collectively endure the consequences of being poorly understood by modern medicine. I know what it feels like to be called 'crazy' while advocating for rare and undiagnosed diseases, largely due to misinformation and ignorance by my peers.

 

Let us be humbled as we remember the word "idiopathic" exists for a reason. Let's see what happens when we challenge the notion of disease processes with an unknown cause (idiopathich). What would happen if we sought to explain the root cause of disease, beginning with its' molecular basis?

 
 

What Could You Do ...With 100 Days?

 
 

I AM A BELIEVER #JESUS

I am at the RIGHT place.

I am in the RIGHT moment.

I believe Jesus is the son of God.

God has Divine Purpose for your life

"Before you were born, I set you apart;"

-Jeremiah 1:5

 
 

#RareDiseaseDay is February 28th. I can’t wait to see what happens next.

#100DAYSLet's Roll.

 

Warm Regards,




Jessica Fehrenbach, CM-CCEMTP

Senior Concierge Case Manager

Tertiary Data Analysis | Human Genomics

John Thibault Advocacy Solutions, Inc.

 


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