Updated: Sep 4
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.”
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.
There was SIGNIFICANT barrier due to incomplete communication from the VA community care and lack of willingness to participate by family, despite direct instruction that malignant hyperthermia susceptibility was of a particular concern with the RYR1 variant ... there was no further discussion about ongoing testing at that point for family members and I encourage providers to try and build Maurice rapport and perhaps encourage family samples be collected and stored for variant testing. Should it be necessary because trying to get the samples after the fact, is more cumbersome win maybe upsetting, or ambiguous information has come out from the genome sequencing, and I think that it causes families to lose confidence in the human genome project, and what we're trying to accomplish as a Nation (2015 Precision Medicine Initiative),
Sadly, secondary evaluation barriers due to the lack of any first or second-degree relatives willing to undergo targeted variant testing as recommended by Molecular and Clinical Geneticists, Genetic Counselors, myself, their primary care physician per ACMG recommended incidentals secondary findings and protocol for first-degree relatives. Four VUS In RYR1, DYNC1H1, DAB1, and MYO7A we're identified as variants of interest for the proband. Melvin hardens is not known for or why are one in this case due to family declining further participation. there was not enough information to make a pathogenic call without familial testing, because some of these very intent only been reported in literature. I think the general consensus on this patient phenotype, and overall appearance is that they appeared to carry some type of reduced penetrants or late onset in 20s and 30s with slow progression into 50s and 60s.
This challenging diagnostic odyssey benefitted from 30x Whole Genome Sequencing (WGS) with expert variant interpretation and targeted microarray analysis. I combination of open source and user licensed bioinformatics tools and machine learning algorithms were employed. Several standalone AI software's were used to augment heuristics. I served as Concierge Case Manager and the Principal Investigator (PI) of an individual case study (pictured below), two cohort study projects, several facial gestalt Matcher research project, as well as one Phase I Environmental Site Assessment (ESA) in compliance with relevant EPA and ASTM guidelines.
WHAT TYPES OF SPECIALTY PROVIDERS AND TESTING PROTOCOLS WERE UTILIZED FOR THE MALE PROBAND's Clinical and Molecular differentials and how did you prioritize which variants should remain at the forefront of ongoing AND future analysis?
John Thibault Advocacy Solutions, Inc. consulted greater than >30 physicians, physician-scientists and pathologists were formally consulted inclucing several subspecialties, tertiary care providers, and quarternary care providers. More than >25 Allied Health Providers conducted extensive clinical, testing including nerve biopsy, MRI, plain films, CT, Echocardiogram, Carotid Duplex, Vascular Duplex, Lumbar puncture w/ CSF collection, OCT and related NeuroOpthalmology tx's, inpatient three lead ECG and SPO2, CT-Angiogram, awake 2 hour outpatient EEG +24h wake-sleep EEG. Tilt-table test was declined by patient. inpatient heparin was verbally declined by patient and their caregiver, two EMGs with NCS, abdominal ultrasound, holter monitor x7 days, Molecular Geneticists, Biochemical Geneticists, Genetic Counselors, Audiologists, Civil Engineers, Forensic Engineers, Mycologists, Geologists, Industrial Hygienists, HVAC/Plumbing Experts, Specialty Pharmacists, Chiropractors, Orthotists, Revenue Cycle specialists, Regional Poison Control, and Social Workers-- this is not an exhaustive list but I hope to convey the amount of time and effort that was necessary to have a prayer getting anywhere for this patient. It's not acceptable in the year 2023 and it wasn't acceptable in 2022 or 2021, but here we are!!
As you can see, I ultimately decided to make this post. 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.
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 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;"
#RareDiseaseDay is February 28th. I can’t wait to see what happens next.
#100DAYS — Let's Roll.
Jessica Fehrenbach, CM-CCEMTP, RBT
Concierge Case Management Team
Tertiary Data Analysis | Genome Sequencing
John Thibault Advocacy Solutions, Inc.