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This post is dedicated to all the dreamers and Believers out there. 💜
I'm going to share an update about my 6-year-old son to provide readers with some context about me personally. He has a molecular diagnosis of a very rare disease with around 155 cases reported in recorded history. It originated around 295 years ago with the founder mutation isolated to Norway.
Fully penetrant forms are life-limiting based on a review of available case reports. His condition is called FLED or FAMILIAL LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY. More simply it is called LCAT DEFICIENCY. The more mild form is called FED or FISH-EYE DISEASE, and the more severe form is called NORUM DISEASE.
My son's specific genetic variant is located on gene LCAT on Chromosome 16 at position 16:67942967, based on reference data at GRCh38.p14. He received 30x Whole Genome Sequencing using a buccal sample. (There are some very specific nuances to his variant that I'm still working on, so I am not going to share his specific mutation at this time-- however it is classified as pathogenic on Clinvar and OMIM #606967-00.16).
This is not intended to be an informative post about the disease as I would like to take the time to do that another day. Today I want to share an excerpt from my social media that I recently uploaded so that you can understand my passion for rare disease research (in part) and provide the context as to how the Human Genome Project has impacted my life personally.
**I want to preface this by saying the following excerpt was written informally for my social media. I ask you to please bear that in mind as it was not intended for professional dissemination and admittedly it is an emotionally charged topic for me. Regardless, I decided to share this with you in the hope that it provides some hope and clarity to you and who inspires you to be bold enough to eliminate "incurable" or "untreatable" from clouding your visions, hopes, and dreams. Excerpt begins below:
"Believe me-- It is a sad day to admit to yourself as a mother and a clinician that your own child could have been killed by a disease you had never f****** heard of and you would have buried them without ever knowing that LCAT-DEFICIENCY was the TRUE cause. It's a strange thing what guilt does to you even when you find answers.
While I BELIEVE I cannot change God's Will; I can tell you this:
I WILL KNOW what happens to my children. I WILL also know why anything in their bodies begins changing before it's finished; biologically speaking. HELL WILL FREEZE over for anything less.Someone will have to pry the pen and paper from my cold dead hands because it will be OVER MY DEAD BODY that anything happens to my children.I will not sleep. I live for these children. I will do everything within my power to ensure the preventable tragedies they face do not come to fruition. I will not resign anyone to die. Do you know who I am? I am Jessica Fehrenbach and I am a Paramedic. This is not the first time I've danced with death. Especially not out of fear of financial limitations because if the technology is there I will find a way to get it if I don't already have access to it. I hope mothers reading this with a family member or child with a rare disease refuse to accept it's over until you f****** see they're gone-- go get them, Mama."- JESSICA R. FEHRENBACH, CM-CCEMTP and CEO of JOHN THIBAULT ADVOCACY SOLUTIONS, INC.