Hi guys! It's so hard to believe that it's already week 7 of senior projects! How did that happen?
So, this week, on Monday a patient and their family actually drove from Mexico to the office to see Dr. Narayanan. I’ll start with a little backstory on this patient - the patient was developing completely normally until around the age of 5 and after that they began deteriorating rapidly. They lost the ability to communicate, had severe decrease in mental cognition, lost the ability to walk among other things. At first, doctors in Mexico believed it was some sort of spinal infection and they ran a spinal tap but all the results came out as normal. After the normal results, the doctors in Mexico thought it might be a mitochondrial disorder or something genetic, but because they lack the resources to do genetic testing, the doctors referred the patient to Dr. Narayanan. After an hour long initial examination and review of the patient history and notes, Dr. Narayanan suspected that this patient has some sort of a neurodegenerative disease which is caused by an issue with neurotransmitters responsible for dopamine in the brain. But, in order to confirm this diagnosis Dr. Narayanan ordered another spinal tap (this time requesting different tests) and enrolled the patient into the genetic sequencing study. After this, Keri (the clinical director) invited me to sit in on the consenting process and getting the patient enrolled into the study.
This week there was also the Annual Clinical Genetics Meeting (ACGM) which Dr. Narayanan attends each year and Keri presented at this year. Because of this, Dr. Narayanan was swamped this week so we did not have a chance to chat about the sequencing results of my specific patient yet. However, I thought I would take you guys through the process of consenting the patient into the genetic studies. It's actually pretty simple - Keri and the family sit down together and go through a packet which outlines what the testing is, how it is done, and how they use a big database to see if any other people have the same mutations as the patient enrolled in the study. After this, Keri draws blood or takes a cheek swab from the child, and takes blood from both parents and a sibling if they are willing. Then, those are sent off to the lab to be sequenced which can take anywhere from 6 months to a year depending on the severity of a case.
Ok, well that’s all I’ve got for you guys this week! Here’s a funny gif of Loca, the pug that just can't run!
