Hi everyone and happy Friday! I can’t believe that it’s the first week of senior projects! I still haven’t wrapped my head around the fact that I don’t have to go to school for the next couple months.
Monday was my first day at my on-site location and I was really excited to start working at the clinic again! I spent this week shadowing Dr. Narayanan, and was given the opportunity to see some really interesting patients and cases.
For the sake of confidentiality, I can’t talk about the specifics of a patient but I am allowed to share some of the diseases I got to witness this week. The majority of the patients had epilepsy but it manifested in different ways for each patient. One little girl has seizures in the form of staring spells. But, these seizures often look like she was daydreaming or just staring off into space, so Dr. Narayanan decided to perform a hyperventilation test on her. So, for this test, Dr. Narayanan had the girl blow on a pin-wheel and about 15 to 20 seconds into the test the girl stopped blowing air and began staring off into space. It took about 20 to 25 seconds before she was responsive again.
Another patient I saw has a condition called Snyder Robinson Syndrome (SRS), an incredibly rare condition that exclusively affects males. This patient's SRS was caused by a point mutation in their SMS gene. The SMS gene is required for giving instructions to allow for the production of the spermine synthase enzyme. Spermine is a polyamine, and polyamines play an important role in cell growth, division, and survival. Basically, polyamines are very important for normal development. Because of this mutation and his diagnosis of SRS, this patient also had osteoporosis, anemia, renal tubular acidosis (this occurs when the kidneys are incapable of excreting acid into the patient’s urine, so the patient’s blood is too acidic), and a whole bunch of other intellectual and developmental issues.
Ok, so that was a lot of medical information in very quick succession, and hopefully I explained it (semi) clearly.
Anyways, thanks for checking into my blog again! Until next week!
Jajooooo! Your project sounds super cool! I will definitely enjoy reading about these interesting diseases. How rare are they? You definitely explained the diseases well, so you don't have to worry about that. It sounds like it is hard to see these diseases, especially if little kids have them. How did these experiences help you with your project though? Was it just like an introductory experience before you delve deeper into your research? Sounds like you will have an eye-opening and amazing experience! I will be keeping a close eye on your blog because this is some cool stuff.
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DeleteHi Brent!
DeleteSo, the kid with SRS's condition was super rare, the mom told me only about 15 other families have reported being affected by this. This was kind of like an introductory week, but these cases are diagnosed through sequencing.
Thanks for reading!
It seems like you had a really eventful first week, Anjalee! I can't imagine how it must be to live with these diseases and disorders. For the SRS patient, do you know why the condition only affects males? Is it something to do with the SMS gene in males? I'm excited to keep following your blog and hearing about these super interesting things in the medical field!
ReplyDeleteHi Shreya!
DeleteTo the best of my knowledge, the mutation is carried on the X chromosome and because boys only have one X chromosome if there is a mutation on that chromosome it will be expressed. I hope that helped to answer your question!
Thanks for reading!
Wow, this is really interesting. I'm curious as to how the little girl had her staring spells diagnosed (was there a family history?), but I understand that you can't give too much personal information out. How did these experiences further your project?
ReplyDeleteHi Stirling!
DeleteI can't disclose too much information, but the mother noticed her staring off into space and not being able to be responsive or aware of what was happening to her. So, she brought her to a neurologist who ran a 24 hour EEG and her results showed that she was having seizures every time she had staring spells.
Thanks for reading!
Woah, this was really neat! It is interesting how the doctor you were working with used a simple test to observe such a complex disorder. Furthermore, it is neat to see how you are working with two very different disorders in a very short time. I can't wait to see what else you find!
ReplyDeleteHey Anjalee! This post and your project seem really interesting! Although its hard to hear of people living with these diseases especially when children have to live with them, I am curious on how doctors are going about treating these diseases. Im also curious is SRS affecting people worldwide or in a specific region? Also how do you see these experiences aiding your project?? Again great post and I am interested on where your research takes you!
ReplyDeleteHi Anirudh,
DeleteSRS is such a rare condition that the mother of the boy told be that she had only head of about 15 other families that have been affected, globally. There is always the chance that there are more who have simply gone undiagnosed or unreported because of a lack of resources. This week served as more of an introductory week to see more of the patient care and clinical evaluation side.
Thanks for reading!
Hello Anjalee! Personally, i'm very interested in pediatric diseases and how the occur, so i'm excited to learn from you about how the disruption of the genes cause these saddening diseases. I was wondering for each disease, are you observing the difference between the normal genes and of the ones from the patient who is suffering from the diseases or just how they mentally and physically affect the children? If so please share the gene deformation thanks! Good luck and please keep sharing (also i love the gifs) :) Thank you!
ReplyDeleteHi Natalya,
DeleteI am rotating through a doctors daily appointments so I am only seeing patients with affected genes. Hope that answered your question!
Thanks for reading!
Wow! This was very neat! It seems like you are really learning a lot in your project, even after one week. Are these diseases so rare that there is not enough research toward a solution for them? Also, how do these experiences with the patients further your project? On the whole, good work for your first week! I cannot wait for next week's post.
ReplyDeleteHi Gokul,
DeleteBecause of how rare these diseases are, more research is being done to work to find a solution towards them. But, for the time being, the main goal is to manage the symptoms and help the patients live as good and healthy of a life as possible.
Thanks for reading!
Hey Anjalee! This project sounds so cool and interesting and I think its great that you're able to witness these rare disorders within your first week in the lab! I was curious about the effect of both staring spells and SRS on a patient's ability to engage in conversation and how they play a role in his or her's intellect level? I look forward to the future weeks!
ReplyDeleteHi Aparna,
DeleteThe patient with the staring spells faced some intellectual difficulties but was still able to have a conversation and communicate. However, the patient with SRS was brought in in a wheelchair, was not able to speak at all, and required around the clock care of a nurse.
Thanks for reading!
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ReplyDeleteHey Anjalee!! Your project actually sounds very interesting and informative. The rare diseases that you talk about seem very interesting and also need a solution very fast so the work you are doing is greatly appreciated. Can't wait for next week!!
ReplyDeleteHello Anjealee!! These diseases sound really cool and unique and i loved reading about it! Is the girl's seizures threatening even though it's just her staring off?? Good luck!
ReplyDeleteHi Esther!
DeleteHer condition is not life threatening, but she has suffered some intellectual delays because of it.
Thanks for reading!
Good work here! Very interesting experiences at the clinic. It would be helpful to have a more in-depth explanation of how these experiences will help you build upon your project. You should always have that in mind when writing your blog entries.
ReplyDeleteGood job!
Mr. Wells
Hi Mr. Wells,
DeleteI will keep that in mind for the next post! Thanks for reading!
Thanks for reading and the feedback!
Hey Anjalee,
ReplyDeleteThis is so interesting and illuminating. I agree with Mr. Wells - try to connect these experiences to your research project. When we next meet, I can explain to you economically as to why these diseases don't get much press or treatment.
Hi Mr. Molk,
DeleteI will do my best to connect them in next weeks post. I would love to discuss that the next time we meet.
Thanks for reading and the feedback!
Congrats Anjalee, on getting some very interesting research done. Your data set should give you the tools now to further your research. Great to see that your genetic research will have application. Best wishes, Vishesh.
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