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!
