Blog Posts

November Emphasis: Smith Magenis Syndrome

by Analyssa Tallas

The doctor called and said, ‘this is what she has, it’s extremely rare, here’s a website, please give us a call if you have questions’ .– A mother recounts the brief phone call she received when she learned of her daughter’s diagnosis of Smith Magenis Syndrome. At the time, this mother did not realize the diagnosis was life-changing.

Smith Magenis Syndrome is a rare condition, caused by a deletion of important genetic material on chromosome 17. Individuals with Smith Magenis Syndrome typically have difficulty feeding and failure to thrive as infants, as well as intellectual disability, speech difficulty, disrupted sleep patterns, low muscle tone, decreased sensitivity to pain, and self-injurious behaviors. They are described as having affectionate and endearing personalities, excellent long-term memory for events, places, or names, and overall a funny sense of humor. It is estimated that 1 in every 15,000 to 1 in every 25,000 people have Smith Magenis Syndrome, but this estimate does not represent individuals who have not been diagnosed or have been misdiagnosed.

Eleven years ago, Sophi’s family welcomed her into the world. Her mother, Jess, instinctively knew something was wrong when Sophi was born, but had been falsely reassured that her daughter was fine. As an infant, Sophi had difficulty eating, severe acid reflux, recurrent ear infections, a urinary tract infection that spread to her kidneys, low muscle tone, and was missing her developmental milestones. After a full year of physical therapy with minimal progress, a physical therapist suggested the family pursue genetic testing. When Sophi was 18 months of age, Jess answered a phone call from Sophi’s doctor who briefly informed her that genetic testing revealed Sophi has Smith Magenis Syndrome. This short and simply unhelpful phone call left Jess feeling relieved that she finally had an explanation for her daughter’s health complications, but also terrified by the rarity of this condition. Now that there was a diagnosis, what were the next steps for her daughter? What impact would this have on her daughter’s future? Her family’s future? Jess, feeling scared, stressed, and lost, soon realized Sophi would be dependent on others for the rest of her life.

Fast forward to present day, Sophi is described as a loving child who has a quirky sense of humor, an undeniable passion for all the Mario videogames, and the ability to brighten the day of everyone she sees. She is outgoing and active in school where she receives occupational therapy as well as speech therapy. Like other siblings, Sophi and her big sister ‘push each other’s buttons’, most likely an expression of the unique bond that only sisters share. In essence, Sophi makes everyone around her feel extremely special.

Recounting the past eleven years of her life, Sophi’s mom is sure of many things. First, your intuition is something that you should always trust, even if medical professionals provide false reassurance. Second, Smith Magenis Syndrome is rare, but there are other families with the same diagnosis and you are not alone. Third, learning your child has a rare condition will change your life and it will be challenging, but you will learn how to adjust and readjust. And fourth, you must become an advocate for your children, because nobody else can do that better than you can. Jess beautifully described her journey in life thus far and says, “It’s not the end of the world, it’s just a change. I feel blessed to have my daughters in my life”.

As Smith Magenis Syndrome is caused by a deletion of genetic material on chromosome 17, we recognize World Smith Magenis Syndrome Awareness Day on November 17th. For information on how to become involved in raising awareness of Smith Magenis Syndrome or for resources for patients, families, and providers please visit:

Parents and Researchers Interested in Smith Magenis Syndrome https://www.prisms.org

Smith Magenis Syndrome Research Foundation https://www.smsresearchfoundation.org

 

Premature Birth Awareness

By Ellen Richardson

Starting a family is one of the most exciting times in a couple’s lives.  For many, pregnancy is an exciting nine months of baby showers and nursery preparation, parents picking out baby names and dreaming about what their child might look and act like. When Melissa Morales and her late husband found out they were pregnant, it was an exciting time filled with all of those dreams. Melissa and her husband opted to get prenatal screening early in the pregnancy. Screening results came back abnormal, putting the pregnancy at an elevated risk for having a baby with Down Syndrome. Melissa already had an ultrasound scheduled for the following week, and she and her husband spent the week balancing the anxiety of the abnormal prenatal screen with the excitement of discovering the gender at the ultrasound appointment. This was the first ultrasound of the baby, and the appointment revealed exciting and shocking information. Melissa was pregnant with twins; a boy and a girl. This was likely the explanation for the abnormal prenatal screen, as it operates under the assumption that there is only one baby present. From then on, Melissa’s pregnancy was fairly routine.

At 28 weeks, Melissa and her doctor evaluated the stress of her job and daily routine and made the mutual decision that she would continue working as long as she felt healthy. That week, Melissa noticed some fluid leakage. She called her doctor, but he was not too concerned. The leakage continued, and later in the week Melissa felt in her gut something was not right. She ended up going to the hospital and discovering she was in labor. The primary concern with giving birth at this early stage is that the babies’ lungs are not fully developed. Doctors made efforts to give Melissa medications to speed up lung development and slow labor, however the babies decided they were ready to make their way into the world anyway.

At 30 weeks along, Melissa gave birth to her twins by Cesarean Section. After birth, the twins were both on respirators for several days, her son eventually needing to do a second stint with the respirator. The twins spent the next seven to eight weeks in the Neonatal Intensive Care Unit (NICU), a time Melissa described as an “emotional roller coaster.”  She said she would go home feeling wonderful some days, knowing that she had reached some milestone, just to experience a setback the very next day. When Melissa and her husband were finally able to take the twins home around 7 weeks old, Melissa’s mom noticed her son was spitting up an abnormal amount. After several days, his condition worsened and her son went back to the hospital. They found he needed surgery to repair pyloric stenosis, a condition of a narrowed opening in the stomach leading to the intestines.

Taking care of a healthy newborn is no easy task. Taking care of two babies, especially with health issues can be terrifying and time consuming. Melissa says her twins experienced delays throughout the first eighteen months of life, including walking and speech delays. After that period of time, she felt the twins caught up to their peers, and have flourished since. This kind of outcome is not always the result. Being born prematurely can often lead to health complications that will continue to be issues throughout life.  Premature birth affects about 1 in 10 pregnancies in the United States. For families experiencing the shock and fear involved in premature birth, Melissa says trust your instincts, because you are your child’s biggest advocate. You know them better than anyone. There are times she knew something was not right with her kids and felt it necessary to push doctors to pay extra attention to a particular issue. She appreciated that her own Ob/Gyn took her opinions and feelings into account and worked with her as a team. I asked Melissa what she wanted people going through similar experiences to know. She mentioned that friends and family often told her how strong she was, and they were not sure they would be able to handle that kind of pressure. Melissa says there is always a natural fear, but you do not know how strong you are until you are forced to use that strength.

November is Prematurity Awareness Month, and there are families across the world going through this emotional roller coaster. Columbia, SC is lucky enough to have a facility dedicated to caring for premature babies. Palmetto Health Richland Children’s Hospital’s NICU serves 16 counties in South Carolina. These healthcare professionals work tirelessly to care for around 800 babies born prematurely or experiencing critical illness each year. If you are in the Columbia, SC area, consider following the University of South Carolina Gamecocks for Babies on social media, or join in on one of their events. This is a passionate group of students acting to make a difference in the Columbia, SC community. Mark your calendars and start training for the Gamecocks for Babies 5K on April 20, 2019.  If you want more information about premature birth, or want to know about how you can support families going through this experience in your area, visit the March of Dimes website. This organization is dedicated to educating others about premature birth, offering support for families, and supporting research of medical treatment for premature infants.

Resources:

March of Dimes: https://www.marchofdimes.org/

Palmetto Health Children’s Hospital NICU: https://www.palmettohealthchildrens.org/services/level-iii-neonatal-intensive-care-unit-nicu

 

 

Meet Mrs. Mac! Honoring a Survivor during Breast Cancer Awareness Month

        I had the privilege of first meeting Michelle Mac Lain at the end of my first semester of freshman year at Clemson University.  My good friend, Kaitlyn, was dating Michelle’s son who was on the Clemson football team, so the two of us were invited to come down to Orlando, Florida to stay with the Mac Lain family and watch the boys play in their bowl game.  Michelle was a fast friend, and we were fortunate enough to spend time with the Mac Lains every football season thereafter and beyond (I was recently a bridesmaid in Kaitlyn and Sean’s wedding!).  After getting to know the Mac Lains a little more, I discovered that Michelle is a breast cancer survivor.  It was humbling to hear her and her family talk about her fight, so this October I’m sharing her story to spread awareness about this disease that affects so many. 

Ms. Mac Article PictureAbove: Me, Michelle, and Kaitlyn at the 2017 National Championship Game in Tampa

Here are a couple facts about breast cancer important to know:

·       Breast Cancer is an umbrella term encompassing many different types – these types can have different presentations, treatments, and even risk factors.

·       There is a 1 in 8 lifetime risk of getting breast cancer for women in the United States.

·       The most common risk factors associated with breast cancer: being a woman and getting older (Get your mammograms ladies!).

·       Women in their 20s, 30s, and 40s can also be diagnosed with breast cancer.

·       Breast cancer is multifactorial – this means there can be both genetic and environmental causes of the disease.

·       The signs of breast cancer are not the same for everyone!  Finding a lump in the breast is common, however you may also notice redness/swelling, itchiness of the breast, puckering of the skin, or changes in the nipple.

·       Early action can have a big impact on one’s prognosis.  It is important to stay updated on your breast cancer knowledge and to be vigilant! 

·       According to the National Breast Cancer Foundation, “Each year it is estimated that over 252,710 women in the United States will be diagnosed with breast cancer and more than 40,500 will die from it.”

·       Men can get breast cancer too!  Approximately 3,000 men will be diagnosed each year.

·       In the United States today there are over 3.3 million breast cancer survivors!

·       If breast cancer runs in your family, you can see a genetic counselor!  They can give you a better idea of your personalized risk, and if desired can order testing to see if there is a genetic basis for an existent diagnosis or to see if you have a gene that makes you more susceptible. 

Now that we’ve covered some important facts about breast cancer, I’ll share my interview with Michelle about her personal experience with breast cancer.  As a breast cancer survivor AND an OB-GYN nurse, she is a fantastic advocate for women’s health and wellness! 

The interview questions, followed by Michelle’s answers, are as follows: 

·       Tell me about yourself:

o   I’m a 49 year-old, 5-year breast cancer survivor!!
Mother of 2 amazing young men who are my world. Mother-in-law to 2 beautiful young women God brought into our family. Wife to my perfect man, who is the most sensitive and strong guy there is. And daughter to the strongest woman I know, also a breast cancer survivor!! And a labor and delivery nurse of 28 years, doing the greatest job in the world of helping bring life into this world.

·       When were you first diagnosed, and what was your diagnosis (cancer type, stage, etc.)?

o   I was diagnosed in 2013 with DCIS in my right breast. Some providers have said this isn’t even really cancer. But thankfully I had an amazing surgeon who took my mother and grandmother’s breast cancer diagnoses into account and offered me a double mastectomy.

·       How was the cancer initially detected?

o   I had a mammogram that was suspicious on January 15th, a repeat mammogram on January 22nd and a mammotome biopsy on the 30th.
My mom and I heard the radiologist tell the technician, “she will be lucky if it’s DCIS.” Thankfully it was!!

·       Did you meet with a genetic counselor/geneticist about your diagnosis?

o   After my diagnosis, I did get the BRCA testing and it was negative!!! 😊

·       What were your thoughts/feelings initially following the diagnosis?

o   I really expected to get breast cancer. I wasn’t shocked at all. My husband was transferred to Mississippi and I was still in NC with my youngest son while he finished high school. I texted him – “it’s cancer, but the good kind.” That was perfectly fine in my brain, but he didn’t take the news so well 🤣

·       What kind of a medical management plan was implemented for you?

o   Surgery, plastic surgery appointments, MRI and ultrasound in February. Then on March 13th – double mastectomy with reconstruction.

·       How did you family deal with the diagnosis as a whole?

o   Everyone was awesome!! The boys took it hard at first, but understood we caught it so early that great outcomes were expected. Hubby and mom were so great.

·       Is there something you wish you had known before receiving treatment?

o   I don’t think so. The reconstruction process was VERY rough. I wasn’t prepared for that, but I think I would have still done it had I known.

·       What (if any) additional outlets could you have used/turned to that you do not feel you had at the time?

o   None. I had an amazing group of providers and friend and family support!!!

·       What helped you get through treatment?

o   Thank God I didn’t have to have chemo or radiation!! The margins were not clear on path report, and there was some talk of radiation. But the surgeon really felt like she got it all – margin was right at my skin, she said there was nothing else to get…. I chose not to do radiation and just monitor. So far so good… My family and friends got me through the reconstruction process. Hubby was there when he could be, but going back and forth from MS and NC. I had 2 friends that traded out going to appointments with me for the inflations of the expanders each week – would not have wanted to do that alone!! Mom and hubby were there for surgery of course and the few days after for recovery. My sons’ friends were also amazing. They would pick me up and drive me to Sean’s track meets, etc. on days I couldn’t drive. And Sean, poor guy, without his brother who was in college in SC and dad who was in MS, stuck with a mom who usually could do anything, to not so much for a while… he was amazing!!!

·       Did you face any obstacles during your treatment process? If so, how did you overcome these obstacles?

o   Hubby being so far away was the worst. He tried to get stationed back in NC, to no avail. Then as soon as Sean graduated, I was to go to MS with him. Some treatment delays made that timeline rough, but it all worked out. Family, friends and God got us all through!!!

·       What message would you like to provide for women in the community?

o   Trust your instincts, go with your gut on treatment options. Have screenings and tests, don’t be in denial because you are afraid. Treatment is SO much better now and so many people depend on you. You have to take care of yourself. And all those people who depend on you, will be there for you, they want to help. Some don’t know how – please don’t be afraid to ask for what you need!!!  

 Insightful words from a special woman!  I am thankful Michelle was willing to share her story, and I hope reading a firsthand account of her experience helped you learn a little more about breast cancer. 

 

Resources:

American Cancer Society: Breast Cancer Facts & Figures 2017-2018 https://www.cancer.org/content/dam/cancer-org/research/cancer-facts-and-statistics/breast-cancer-facts-and-figures/breast-cancer-facts-and-figures-2017-2018.pdf

National Breast Cancer Foundation, Inc.

https://www.nationalbreastcancer.org/ 

Susan G. Komen Breast Cancer Fact Sheet http://www.the3day.org/site/DocServer/BC_Fact_Sheet__02_17.pdf?docID=9461

 

 

 

 

 

October Spotlight: Zoe, An Exceptional Gift!

By Dianna Sanderson

Meet Zoe. The first third grader to represent lower division at the state science fair from her school.  Honor roll student. A young girl entering her ninth year of perfecting hip hop, jazz and tap routines through her school’s dance team. She is a proud member of her community’s Girl Scouts. She was an early reader at 3 years old. When you think of these accomplishments who do you think of? Zoe is a third grader with Down Syndrome.  If you didn’t see that coming, it’s okay, most people don’t. Zoe just goes to show the diversity of ability available to children who are diagnosed with Down Syndrome and an even greater truth: never underestimate both a child’s ability and a parent’s love.

It is said that special children are given to special families, families that are uniquely equipped to take care of them. In this case Zoe was “given” to Suzanne. With mixed emotions Suzanne remembers the doctor’s words at Zoe’s birth when she was suspected to have Down Syndrome, words that still hurt. Up until Zoe’s birth, there was no indication that anything was wrong with Suzanne’s pregnancy which occurred through IVF (In Vitro Fertilization). The doctor’s words still resonate in her mind, “Wouldn’t it be great if she doesn’t have it (Down Syndrome)!”.

As the blood sample was sent off, Suzanne was confused, concerned and afraid. Not only was she awaiting an unexpected diagnosis, but Zoe had two holes in her heart that needed surgery. Early days centered on trying to get Zoe to take in enough milk each day to gain one pound per month so she would be ready for heart surgery. Feeding was a challenge due to Zoe’s difficulty suckling (a characteristic feature of Down’s Syndrome known as hypotonia). But Suzanne persisted and Zoe gained weight. In fact, Suzanne and her husband have persisted through every challenge given since that moment. Whether the challenge is treating a subsequent infection or finding the right daycare, early reader programs, nanny, teachers, or support, their effort is relentless. Suzanne finds herself in a steady, though unpredictable, rhythm that she doesn’t resent. In fact, she reports she is not a gift to Zoe rather Zoe is a gift to her. Through Zoe she has learned to let go of controlling everything. She feels she has learned so much more about life than she could ever give back to Zoe.

Having a child with special needs takes work, but it is worth it. Suzanne advocates for a variety of services available to children with Down Syndrome. Suzanne has initiated contact with each of Zoe’s teachers to help them. She doesn’t assume Zoe’s teachers have training with Down Syndrome and trains them in handling behavior difficulties with Zoe as they arise. “Zoe can be stubborn when she gets anxious, defiant or feels too challenged.” Communicating consequences can cause a flood of emotions in a parent. However, Suzanne reports nothing prepares you for the love, “fierceness” and intense caring Zoe can show that knocks you off your feet.

Last week she recounts Zoe literally spent 12 hours throwing up due to an intestinal condition only to look at her mom after hours of illness to say, “Mom I do not want my friends to feel this pain.” Her quiet way of saying she should not go to school and risk infecting her friends.  She doesn’t feel well and doesn’t want others to not feel well either. There are challenges. However, as a family, they learn to get through each one, one day at a time. “Zoe grounds you in what is most important in life and in your values. Many people miss these deeper life meanings.” Their family does not. Suzanne wants families to know having a child with Down Syndrome is not a punishment. It has enriched her life. It has Zoe doing things no one ever dreamed she would or could do and she wouldn’t dream of lowering her expectations as Zoe has exceeded each one so far.

The month of October is a month in which we recognize children, families and adults with Down Syndrome. Down Syndrome occurs in every 1 in 700 newborns or approximately 6000 babies born each year. Women age (35+) may have slightly increased risk than the average estimate. All typical human cells have 46 chromosomes, except the egg and sperm, which have 23. These sex cells are formed by division (called meiosis). When an egg is fertilized, these two cells join, giving the embryo 23 chromosomes from each parent for a total of 46 chromosomes.

Sometimes an error occurs in this process, causing a different number of chromosomes to occur in the sperm or egg. A healthy baby has two copies of chromosome 21 in each cell. People with Down Syndrome have three. Any cell replicated from this cell with three chromosomes will have three chromosomes instead of the typical two chromosomes. However, if a child has some cells with the typical pair of chromosome 21, and other cells containing three copies of chromosome 21, this is called Mosaic Down Syndrome. Mosaic Down Syndrome is a rare form of Down Syndrome (occurring in 2-3% of cases). Zoe has Mosaic Down Syndrome.

Children with Down Syndrome have certain physical features, intellectual disability and certain health conditions which will require lifelong care across multiple specialties. Like Zoe, some children with Down Syndrome can do quite well in a typical classroom with help or modifications. Some have regular jobs, attend college, live independently or with assistance. There is a wide range of aptitudes.

Each person’s experience is different. Just be aware, if you are a pregnant and concerned, a genetic counselor can offer both pre- and post-counseling which can assist you with determining your individualized genetic risk for Down Syndrome, educating you and your support system on screening and diagnostic options, support your family system choices, offer resources and recommendations for treatment planning, or suggest lifestyle modifications to anticipate the birth of your new baby. The choice is always yours. Please consider the following resources and join us as we support Family Connection’s Buddy Walk October 21 at Saluda Shoals Park from 1-5pm to celebrate children like Zoe and parents like Suzanne.

1.      Family Connections www.familyconnectionsc.org
2.      Palmetto Health USC: https://phuscmg.org/specialties/medical-specialties/genetic-counseling
3.      Language and reading development: www.loveandlearning.com

September Emphasis: Ovarian Cancer

by Olivia Kesler

The first years of USC’s genetic counseling program were pleased to highlight ovarian cancer as one of our emphasis areas 42175771_234808243882462_7046551730703564800_nfor the month of September. Ovarian cancer is the 8th most common cancer diagnosis in women, but notoriously one of the hardest to detect. Planning prevention and timely screenings are essential in lowering one’s lifetime risk for developing ovarian cancer.

A few fast facts:

  • While ovarian cancer diagnoses have been steadily dropping over the past 20 years, it is still the deadliest gynecological cancer.
  • About 14,000 new diagnoses are expected this year, and sadly, around 22,000 deaths.
  • A woman’s lifetime risk for developing ovarian cancer is 1 in 78. After individual risk assessment, that number can change.
  • The average age of diagnosis is 63 years, though it is important to emphasize that women of ANY age can develop ovarian cancer.
  • Roughly only 20% of cases are considered to be in an early stage at detection.
  • The most common symptoms are abdominal pressure/discomfort, abnormal bleeding, nausea, indigestion/gas, unusual fatigue, shortness of breath, and sudden weight gain or loss.
    • What do you notice about these? They can mirror any number of health conditions! Women are encouraged to schedule an appointment when these symptoms seem to be persisting daily over a period of several weeks.

The most basic preventative measure women can take is to stay on top of their yearly well-visits with a gynecologist. Components that can factor into risk such as oral contraceptive use, pregnancy history, menopause status, hormone replacement therapy, and endometriosis should be discussed with a physician. And of course, any personal or family history of cancer can be teased through with a certified genetic counselor. A GC can guide you through if/what testing is appropriate for you, and help you arrive at a more personalized “1 in __” number.

Our community outreach event for Ovarian Cancer Awareness Month was the Cathy B. Novinger Butterfly Release. This particular butterfly release has taken place for the past several years on the State House Grounds in Columbia, and was recently renamed to honor the founder who passed away in 2016 after battling ovarian cancer. Friends and family gather in memory and in honor of loved ones who have battled the disease, reading their names one by one and releasing butterflies at the closing. It truly is a beautiful event! Please enjoy our photos and check out these local and national resources:

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butterfly-2Ovarian cancer survivor Cherie Nettles (center), with niece Chelsea Starnes and daughter Ashleigh Nettles

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butterfly-8“Teal There’s a Cure” team gathered in memory of Mary Etta Helms

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Huntington’s Disease Awareness

By Emily Berenson

Huntington’s disease (HD) is a fatal genetic disorder that causes the progressive breakdown of nerve cells in the brain. It deteriorates a person’s physical and mental abilities usually during their prime working years (typically around the age of 40) and has no cure. Every child of a parent with HD has a 50 percent chance of inheriting the faulty gene that causes the disease. Today, there are approximately 30,000 symptomatic Americans and more than 200,000 at-risk of inheriting the disease. The symptoms of Huntington’s disease are described as having ALS, Parkinson’s and Alzheimer’s – simultaneously.

For individuals who are at risk for HD (those with an affected parent), the decision to undergo genetic testing is a very personal and complicated one. As genetic counseling students, it is important for us to understand the implications that pursuing genetic testing can have on both the patient and their family members. Some people may not want to know if they carry the faulty gene as there is currently no cure for the disease. Others may want to know for family planning purposes. Preimplantation genetic diagnosis allows embryos to be screened for HD before they are implanted in the mother (ensuring that only embryos without the faulty HD gene are used). And yet others may want to know if they carry the mutant gene so that they can better plan for their future. No one decision in wrong, as everyone differs in how much information they want to know.

As genetic counseling students, we participate in community engagement activities throughout the year. One event many of us will be attending is the Huntington’s Disease Society of America Team Hope Walk in Irmo, SC on October 14, 2018. This team has already raised $6382 dollars towards their $8500 goal. We are excited to get out there and support this important cause that aims to improve the lives of everyone affected by Huntington’s disease and find a cure! Stay tuned to hear from some of the other first-year genetic counseling students next month!

 

Columbia, SC Team Hope Walk Website

https://hdsa.donordrive.com/index.cfm?fuseaction=donorDrive.event&eventID=1341

 

Summer Rotation in Cape Town

By Carrie Anderson

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Groote Schuur Hospital

Hi all! I am checking in from my summer rotation at Groote Schuur hospital in Cape Town, South Africa. It’s hard to believe I’ve been here for almost six weeks already. Doing an international summer rotation was on my mind from day one of the program and it often feels surreal to actually be here.

I originally pursued this opportunity because I wanted to experience genetic counseling in a country with a culture different from my own. South Africa is the perfect place for that, especially here in Cape Town. The population is truly a melting pot, with people of many different origins and 11 official languages. This creates some interesting challenges for counselors, as these languages often lack straightforward words to describe genetic concepts and very few genetic counselors speak African languages.

Because genetic counselors in South Africa don’t typically specialize, this is a general rotation in which I’m seeing a mix of prenatal, pediatric, adult, and cancer cases. Rather than setting up individualized appointment times, patients are referred to clinics in blocks of time and seen on a first-come, first-serve basis. While the genetic testing options are more limited here, the actual counseling sessions are extremely similar to what we’d see at in the US. Unfortunately, GCs in South Africa struggle with limited employment opportunities. After graduating, it’s often up to the counselor to create their own job and market their services in the private healthcare sector.

One benefit to this rotation that I did not anticipate is its connection to a genetic counseling program. My home base here during the day is in the student office, with eight other students and interns. I sit in on their clinical meetings, journal club, and case conference. I’ve learned that the content of the education here is very similar to the USA, though the setup is a little different. The most blatant example of this is that the program here is three years rather than two, because students are required to do an “internship” year after completing the master’s degree.

On a personal note, I’m so glad to be connected with other students here. I was a little nervous I’d be lonely in Cape Town without knowing anyone in the city beforehand, but the students here have been so welcoming. I stay with one student, Kelly, in her house and we drive together to clinic every day (meaning, Kelly drives me because I’m too scared to try driving on the other side of the road). The other students here have also graciously volunteered to drive me across town to different clinics and even hosted a “braai” (South African barbecue) in my honor.

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Signs in the hallways of UCT

My classmates will remember that earlier this year I was worried about a water crisis here in Cape Town. This area of the country is in the midst of an extreme drought, and at one point was predicted to run out of water in June (i.e. the date of my arrival). Thankfully, this “Day Zero” has been delayed and it has rained a lot since I’ve been here. Still, life is a little different as everyone is restricted to 50-liters of water a day. This means 2-minute showers and one toilet flush per day, while being ultra conscious about doing dishes and laundry. This quickly became my new normal but the experience has really opened my eyes to the sheer amount of water we consume daily.

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Repping USC while hiking with Kelly