Hey everyone! I hope everyone had a wonderful week! This week things were at the office, most of the cases I saw while shadowing Dr. Narayanan were different manifestations of cerebral palsy and epilepsy.
On Monday, I saw a girl who had a migraine headache that presented with the signs of a stroke. She has a condition called hemiplegic migraine, but this was the first time she had ever had a headache like this. During a hemiplegic migraine, the patient suffered from loss of feeling in her right arm, and numbness on the right side of her face. The patient was super dizzy and felt said she felt very nauseous and sick. But, since this was her first time experiencing a migraine like this Dr. Narayanan did not want to put her on any medication because he was unsure if this would happen again.
This week I also got to see another case where the child had gone through genomic sequencing and had received a diagnosis because of it.. Today, actually, I saw a little boy who had a mutation in his KCNQ2 channels which was causing a disease called KCNQ2 encephalopathy. The KCNQ2 gene is a part of a group of genes (KCNQ) that are responsible for making potassium channels. Since it is member 2 in the group of KCNQ genes, it is found in nerve cells in the brain. Children with this mutation typically present with horrible epilepsy since birth - this patient in particular had terrible seizures since he was 2 days old. Patients with this mutation have trouble speaking, have majorly delayed development, and are constantly at risk for having seizures for the rest of their lives.
Also, I finally got my case reports and notes on the patient that I am following for my research! I just got them today so I will be blogging about why they chose exome sequencing for this boy next week and what results they have so far! Dr. Narayanan is going to give me literature on sequencing and how it is actually done in a lab. We are also going to sit down and talk about that specific patient next week!
Anyways that’s all I’ve got for you this week! Thanks for checking back in this week!
