Hi everyone! I hope your week was wonderful and that your weekend also goes that way!
This week I did my usual shadowing of Dr. Narayanan, and got to observe around a dozen different cases. Some of the patients that I saw this week had behavioral problems which previous doctors and Dr. Narayanan had linked to autism, ADHD, and ADD. Others came in for regular and routine check-ups.
But, my week wasn’t just filled with watching neurological exams and measuring the height and weight of each patient. I was able to see a 4 month old baby who presents with all the symptoms of Spinal Muscular Atrophy (SMA). SMA patients have a loss of motor neurons so they are unable to produce certain voluntary muscle movements. The baby had low muscle tone and struggled with the ability to produce any movements that muscles in her upper arm and upper leg. In order to confirm her diagnosis of SMA, Dr. Narayanan drew her blood and is having it sent off to be sequenced in order to see if the patient has a mutation on her survival motor neuron (SMN) protein.
After seeing this patient, Dr. Narayanan and I sat down and talked about what makes a patient a good candidate for exome sequencing, and when exome sequencing is a good option to pursue for a diagnosis. The standards for what makes a patient a good candidate are constantly changing and being altered simply because the technology is always changing and new advancements are being made. So, there are some things that make a patient a bad candidate for sequencing and those are if the child was born incredibly premature, or if there is a known cause of brain injury to the patient (such as cerebral palsy, or bacterial meningitis).
I was also given the opportunity to see a patient being enrolled into a genomic study. In order to be enrolled, a patient must give their consent and be made fully aware of what they are signing up for. The clinical director, Keri Ramsey, goes through a bunch of paperwork with the family and then draws blood from the parents, the child (who is being sequenced), and a sibling (if they are willing). The blood is then sent off to be sequenced, and once it has been sequenced the data from the child is compared to the data from the parents to determine which genes might be mutated.
Since my research is more centered towards following a single patient and using that patient to learn about whole exome sequencing, Dr. Narayanan is going to give me the notes and case reports regarding that particular patient. Once I have those (hopefully by next week), I will really be able to begin answering my question!
Thanks for checking back in this week!
