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!
Hey Anjalee! Your research seems to get more and more interesting the more you do it. Each new disease fascinates me more than the last! Is the case study confidential, or are you allowed to give information about the patient? Looking forward to hearing about what you will be doing!
ReplyDeleteHi Brent!
DeleteI am allowed to share information but nothing that would make the patient identifiable. So, no giving out names, or birth dates and stuff like that. Thanks for reading!
Hi Anjalee! If you are just doing one case study, how is following the cases of other children helping your research? I love the blog!
ReplyDeleteHi Stirling!
DeleteFollowing these cases helps in understanding the clinical evaluation side of the sequencing process. Not all children are good candidates for sequencing so this helps determine when they should try sequencing. Thanks for reading!
hello! i'm excited to see the lab results of the sequencing and what you think of all of it. i don't have any questions for you right now because i feel you were able to explain all the diseases and side effects you could observe from the children very well. thank you and please keep us posted about the results you receive as the info you get from all your meetings!
ReplyDeleteanother interesting but sad reseach! I have two questions. Would these patients be able to lead a normal life, or close to normal life? and would these children ever recieve a cure?
ReplyDeleteThanks!
Hi Tsugumi!
DeleteThe little boy will always need assistance but he does do things that normal children his age do like go to school, and have playdates but its much harder. As far as cures go, I am not sure, but the doctors do their best to manage their symptoms with medicine and therapy. Thanks for reading!
Hi Anjalee! I know exome sequencing is a highly expensive process. Because you are testing for genes and not all genes have been associated with all conditions, does that make it harder for doctors to determine the disease? I can't wait to hear more about this!
ReplyDeleteHi Olivia!
DeleteSequencing can become very expensive very quickly. It does make it harder for the doctors to determine the disease but there is a gene matcher which allows for doctors to compare notes and the candidate gene and see if other people in the world have been affected by it. Thanks for reading!
Hey Anjalee! Your post seems really interesting! With regards to your case study, is the patient's condition similar to the cases you have observed? Do you think the patients you have observed before will help you answer your research question?
ReplyDeleteHi Anirudh!
DeleteThe patient's condition is not really similar to any of cases I have observed so I am really interested in being able to delve deeper into this one patient. Thanks for reading!
Hi Anjalee! The things you see at your internship site just keep getting cooler! For the first case you talked about, do you know what causes hemiplegic migraines? Is it genetic or environmental?
ReplyDeleteHi Shreya!
DeleteThe migraines are genetic but happen at different intensities depending on the family member that is affected. Thanks for reading!
Hi! I am very interested to see what the patient says regarding the exome sequencing and also what the results show. Your explanation regarding the mutation with the KCNQ2 channels and the other diseases were exceptional and as a result I do not have any questions for now. I cannot wait to see what the results from the sequencing show!
ReplyDeleteHey Anjalee! I am fascinated with your research and all the diseases you get to witness and work towards. I am sure the family exome sequencing will help with the case studies and your research. It is interesting how a mutation in one gene can lead to many adverse effects. My question is whether some cases of cerebral palsy or the epilepsy are more severe than others? If so, is this because of a mutation on a different part of the chromosome, because of family history, or because of the environment? As always, I look forward to reading next week's post.
ReplyDeleteHi! I was wondering if these diseases were rare, or if they're common with a specific blood type or if they can be passed through genetics? Anyways, your research is really interesting and i can't wait for more!
ReplyDeleteHi Esther!
DeleteThe diseases are rare and the way they are passed down is different in each case. Mutations can come from both parents, one parent, or can even be de novo (where they are not sure why it happened or who it came from, its just there). Thanks for reading!
Hey Anjalee! This post made me really excited for your future accomplishments in Dr. Narayanan's lab and your further progress in the case report analysis. For the first patient you discussed, if she had come back to Dr. Narayanan, having experienced yet another migraine, what medication or treatment would be suggested for her?
ReplyDeleteHi Anjalee!! The patient that visited the office with the headache and numbness seemed very interesting!! Has she come back with any further problems?
ReplyDeleteHi Aayush!
DeleteNo, she hasn't come back with any other problems! Thanks for reading!
Hey Anjalee! Its great to see you can expand your data set by seeing even more people who are candidates for exome sequencing. Out of curiosity, was the first patient put on any other medications to deal with epilepsy? Looking forward to seeing the rest of your data, good luck.
ReplyDelete