Learning about family history helped spark passion for neuroscience

Anne-Marie Atanga, a Genesee Early College graduate, was one of two scholarship winners in Genesee Health Plan’s annual essay contest. Students across Genesee County participated, discussing topics related to their family health histories and the impact it could have on their future health.  Flintside has partnered with Genesee Health Plan to publish the two winning essays.

Atanga is heading to the University of Michigan in Ann Arbor for a dual degree in neuroscience and voice performance. In her essay, Atanga discussed the diseases and conditions present in her family.

Being healthy and staying healthy is such an important responsibility. Part of being healthy is learning about your health heritage and learning about conditions that may run in your family.  Learning about my own health history has reaffirmed my decision to become a neurologist. In the following paragraphs, I will be exploring my family’s history with sickle cell disease, teratomas, and autism.

My older sister has sickle cell disease which causes her red blood cells to sometimes form a sickle. Normally, your red blood cells are shaped like flexible, round discs. In my sister’s case, her red blood cells are bent or “sickled”. This is a problem because your red blood cells help transport oxygen to vital organs. Because sickled red blood cells aren’t that flexible, they have a harder time travelling through the arteries, sometimes they even get stuck. When this happens, oxygen cannot travel to where it is needed, and can result in a pain crisis. I remember my sister suffering from pain crises a lot. It was so hard to see my sister go through so much pain and trips to the emergency room. The numerous pain crises resulted in my sister’s stroke at the very young age of 17.

Now as a prospective neurologist, I have so many questions. How can sickle cell - a disease affecting the circulatory system - result in a stroke - a condition affecting the nervous system? I took the initiative to research different types of strokes. In general, it’s common for people with sickle cell disease to have ischemic strokes. Ischemic strokes occur when a blood clot dislodges and gets stuck in an artery, preventing blood from traveling any further. Strokes can have many different effects depending on where in the brain they take place. In my sister’s case, her stroke took place in the occipital lobe of the brain (this lobe controls vision), as a result she is now peripherally blind. One good thing that came out of her stroke was monthly exchange transfusions. Every month she gets some of her blood taken out, and healthy non-sickle cell blood infused into her bloodstream. As a result, her pain crises are less severe.

From the time I was little, I had an abnormally large sized belly. This made me very self conscious because girls in general, but especially in ballet, did not look like me. Come to find out what made my belly look so large, was actually a large benign tumor. When my surgeon evaluated my abdomen, he said it was about the size of a woman that was 8 months pregnant. The tumor I had was a teratoma, and it is so rare that my case was published in various medical journals I was excited to learn that my tumor would be surgically removed. The interesting thing about my teratoma was that there was all kinds of tissue in the tumor. It even had brain tissue.

So again, as a prospective neurologist I had to ask, “What’s brain tissue doing in my tumor?” It turns out, the different types of tissue in my tumor appeared completely random since the tumor formed before I was even born (during gestation).

The last family condition I would like to explore is autism. I have a brother who has nonverbal stage 3 autism and global developmental delay, and ever since his diagnosis I have been trying to understand his condition better. The most heartbreaking thing I’ve learned is that it is hard to treat severely autistic kids over the age of 6. That’s why I want to research how autism functions in a variety of stages and how to treat each individual with autism. Since I’m entering college as a neuroscience and vocal performance double major, I plan on incorporating music into my research

It’s so fascinating, the brain is the most important structure in your body and if you mess up one tiny neuron, you could drastically change your condition. The voice is so similar, one wrong technique, or one wrong note, and you can lose your voice forever. In both situations, you can feel like you lose a piece of your identity. But what if the two were interconnected? How is it that a former ballerina with dementia can remember a full variation from Swan Lake and a former pianist in a similar situation can still perform one of Chopin’s most difficult works? I hope to investigate how neuroregeneration works and also venture into independent research investigating how the arts can stimulate new brain growth in people with dementia, Alzheimer’s, and autism.

Knowing your family history is very important. In the USA newborn screening can help families detect certain diseases like sickle cell at birth. This is not the case in most underdeveloped countries. I am a first generation Cameroonian-American and until my sister was born, my mother, her siblings and my grandparents didn’t know that some of them carried the gene. Because you have to inherit both sickle cell genes, one from each parent to manifest the disease, some members of my family were carriers.

My sister’s sickle cell disease could also explain why ten of my great grandmother’s children died in infancy. In her time it was explained away by witchcraft or that it was a curse on her. Fortunately her 11th and 12th children survived, the 12th being my grandfather who died at the age of 104. His older brother still lives. My grandfather was definitely a carrier of the sickle cell gene, he passed it to his daughter who married a man who was also a carrier, and they gave birth to my sister. Some people are now choosing to inform potential partners about the sickle cell status, carrier or not. Some choose not to marry someone with whom they have a chance to bring forth a child with sickle cell disease.

Autism on the other hand has not been completely understood but it is a spectrum and some like my brother present with a variety of neurological deficits from speech to poor motor function. 

Aside from the impact I want to make as a neurologist, as a healthcare professional in general, I plan to improve patients' quality of care. Following my siblings to the hospital has made me acutely aware of some health disparities in the healthcare system. Whether it is poor understanding by health professionals of how serious my sister’s pain can be or a lack of services for children who are on the severe end of the autism spectrum. My family health heritage clearly has had an impact on what kind of doctor I want to become.