Patient Stories

Esther was referred to GGC around a year of age after her parents and pediatrician identified concerns with her development. She was diagnosed with Rett syndrome by Dr. David Everman of GGC’s Greenville office. GGC is a Rett Syndrome Center of Excellence and has been caring for Esther ever since her diagnosis. Meet Esther, her family, and friends in this video from Special Books by Special Kids.

Meet the Eysen family! Two-year-old Nora was diagnosed with Infantile Pompe disease at birth. Her family received much-needed information and support in those first days from the Greenwood Genetic Center, and thanks to a quick diagnosis, Nora is on treatment, healthy, and thriving. And she is now a proud big sister!

Reuben has been part of the GGC family for nearly all of his life! He was diagnosed with propionic acidemia as an infant and receives life-saving care from GGC’s metabolic treatment team Dr. Schroer, Mitzi, and Dr. Burns. Reuben lights up our office every time he visits!

The lobby of the JC Self Research Institute at GGC was transformed into a garden – of sorts.

The art exhibit titled ‘Rare Roses’ consisted of 12 paintings that depict real roses with genetic variations. The series was created by Nicole Shannon, an artist from Greenville. Nicole was inspired by her son, who has a rare genetic disorder, and other individuals with genetic differences.

Quinn, now 4, was born with a myriad of health issues and complications. An ultrasound midway through Nicole’s pregnancy identified the first glimpse that there may be a problem. After Quinn was born, genetic testing was performed and GGC’s diagnostic laboratories identified a translocation between chromosomes 6 and 14 that resulted in the loss of 263 genes.

“Until I had a child with a DNA difference, I didn’t know what it was like for people with genetic differences,” shared Nicole in a presentation that she made about her family and her artwork to GGC employees in 2022.

“I was aware of how pervasive racism, sexism, classism, and religious prejudice are, but I never realized how dismissive people could be of other humans when they have a DNA variation. I’ve experienced many instances where my son has been treated as less than due to his DNA,” she said.

Nicole recounted her family’s experiences from the time of Quinn’s birth where people, even medical professionals, have acted “shocked that I unconditionally love my son and wanted what is best for him. They didn’t see him as my son, my little boy, but as a freak – a mistake of nature.”

That’s when she first encountered Dr. David Everman, a clinical geneticist in GGC’s Greenville office, who met with Nicole and her husband, Brendan, to discuss the genetic testing results.

“Thankfully, we eventually met Dr. Everman, and in a moment, everything changed,” said Nicole. Everman, who retired from GGC in 2021, “was able to bring clarity to what caused Quinn’s challenges. He was calm and shared only what he knew – without making assumptions of what he didn’t know.”

That was a turning point for Quinn’s family. From that point on Nicole and Brendan became fierce advocates for their son – challenging the assumptions being made about his abilities.

After 56 days in the NICU, Quinn went home, just in time for Christmas with his family, without a breathing tube and without a catheter, thanks to persistence and advocacy by his parents.

The family soon travelled to Boston Children’s Hospital where Quinn was accepted into the Center for Complex Care. He was evaluated by 27 specialists over the course of two exhausting weeks. He passed a swallow study and was cleared to eat, and they also initiated physical and occupational therapy.

Since that time, “Quinn has grown and improved in so many ways,” Nicole said. “When we think back on what Dr. Everman told us – this was the possibility, this was the hope.”

Nicole’s experiences, and her unconditional love of her son, inspired her to find a way, through art, to express that every human is valuable and beautiful, regardless of their DNA.

She chose the rose, a symbol of beauty, because “roses are revered in almost every culture, and as living things, I was sure they must have genetic variation.”

Nicole reached out to botanists all over the world who shared images of roses that have genetic differences. “I was amazed by the photos and knew immediately that I needed to paint them.”

Nicole painted twelve flowers with two different types of genetic alterations – the double flower and phyllody.

Five of the paintings are double flowers where the central reproductive organs of the flower are replaced by additional petals. The flowers appear fuller, and for this reason, many of the roses that are sold in floral shops and grocery stores actually have this genetic alteration.

The other seven paintings reflect phyllody, a genetic change that causes the reproductive organs of the flower to be replaced by leaf-like structures (as in ‘Rare Rose 11’ pictured right).

“Each painting shows that we are all uniquely beautiful and deserving of love,” Nicole added.

“I can say without a doubt that Quinn would not be where he is today had the Greenwood Genetic Center not armed us with the knowledge and support we needed to help Quinn thrive.”

“Dr. Everman provided calm, clarity, kindness, and support when everyone around us seemed overly anxious, emotional, and fearful,” she added. “He undoubtedly changed the course of Quinn’s care and with it, his life.”

Learn more about Nicole and her Rare Roses series at nicoleshannon.com. You can also follow Quinn’s progress on Instagram @OurMightyQuinn.

Play peek-a-boo with 9 month-old Jeremiah Licorish of Florence, and you’ll be rewarded with a huge grin that lights up both his and his mother’s faces.

But this family has been through the unthinkable over the past few months, with very few reasons to smile.

At first things were going well. Jeremiah was a happy, healthy newborn, doted on by his mother, Aneesa, and his three big brothers. But when Jeremiah was around 5 months old, Aneesa noticed changes in her youngest son’s development that worried her.

“He started to get weaker,” she shared. “He went from holding his head up to being more slumped and not having any neck control. He stopped reaching for things and wasn’t interested in eating – taking only two ounces of milk.”

His pediatrician wasn’t initially alarmed, thinking he was just being a lazy baby, but Aneesa knew some-thing wasn’t right. She began advocating for her son, first getting an appointment with McLeod Pediatric Rehab for physical therapy. “As soon as we got there, they said he needed more than physical therapy. He needed to see a neurologist and geneticist as soon as possible.”

Aneesa reached out to GGC through the Center’s website and received a call the next morning from Shannon Bell, Telemedicine and Genetic Services Coordinator in GGC’s Florence office. A typical appointment can take weeks or even months and for some families requires travel, but Bell was able to get Jeremiah scheduled with a telegenetics appointment close to home for the next day.

“Through telegenetics, we met Dr. Clarkson who examined every inch of Jeremiah – from how his arms were not moving, to his floppiness, and even his little webbed toes,” recalled Aneesa.

Katie Clarkson, MD, is a GGC clinical geneticist who provides telegenetics consultations for patients from her office in Pennsylvania. She considered several tests, but with a long list of possible diagnoses, she suggested whole exome sequencing, a diagnostic test looking for mutations in the coding regions of all 20,000 genes. Because of Jeremiah’s rapid regression, the test that typically takes 10 weeks for a result was fast-tracked by GGC’s Diagnostic Laboratory, and an answer came in fewer than three weeks.

Ray Louie, PhD, Assistant Director of GGC’s Molecular Laboratory, analyzed Jeremiah’s exome results using a new platform involving artificial intelligence (see p. 5), which quickly identified two changes in the TK2 gene. This gene is known to cause mitochondrial DNA depletion syndrome, type 2 also called TK2 deficiency.

TK2 deficiency is a disease that progresses quickly, causing muscle weakness, problems with chewing, swallowing, and breathing, loss of motor skills, and slowed mental development. Seizures and hearing loss can also develop.

Jeremiah is one of only 107 known cases of TK2 deficiency, and he’s the first African-American male to receive this diagnosis.

Bell recalls sharing the test results with the family, “We always dread giving bad news, but Aneesa was so thankful that we listened to her and found out so quickly. Through her tears, she just kept saying ‘thank you’. I couldn’t help but to cry with her.”

Aneesa was devastated with the diagnosis, but recalls that getting the rapid diagnosis “meant everything.”

“With a baby with a progressive disorder, time is of the essence. Getting the results in a timely manner and being able to connect to resources can literally save his life.”

Once the diagnosis set in, and “I stopped crying,” said Aneesa, “I decided to devote the rest of my life to helping with rare diseases.”

She began exhaustive research into this rare diagnosis, finding nothing but grim information online. Then she connected with another TK2 family and was introduced to Dr. Michio Hirano at Columbia University who is conducting a clinical trial on this rare disorder.

By the time a routine whole exome test result would have been reported, Jeremiah had a diagnosis, and he and Aneesa had made the long journey to New York City to enroll in Dr. Hirano’s study. Jeremiah is now receiving the study medication.

Aneesa’s hopes for the trial are that “this treatment turns into a cure and opens up avenues to help other people with rare diseases.”

“In Jeremiah’s case, we were able to mobilize the GGC team across the clinical and diagnostic divisions to get to the diagnosis as fast as possible, which was critically important for Jeremiah,” said Clarkson. “With our lab’s ability to expedite the results and through the use of telegenetics, Jeremiah was able to enroll in this trial earlier and with greater hope for an improved outcome.”

Aneesa recalls that during the appointment where the results were disclosed, there was a very determined black bird knocking on the window of the office. Aneesa found significance in what to most would have been a simple annoyance. To her this experience symbolized persistence even when faced with what seems to be an insurmountable barrier. She likened it to “being able to knock on the right door, and never giving up despite the barriers in your way.”

Our daughter, Ryleigh, was diagnosed with a rare chromosomal deletion shortly after she was born in 2010. Since we received her diagnosis, the Greenwood Genetic Center has become part of our family. They made certain that we did not feel alone, and they continue to provide ongoing, compassionate care for our child. The impact they have had on our family and others across the globe everyday is immeasurable. We can’t imagine walking this journey without their guidance and support.

Because of the amazing things they have done for us, and the impact their compassion has had on our family, we started Race the Helix. It is a 5K race and 1 mile run/walk to support their mission – to do our part to make their vision of providing treatments and cures for families impacted by genetic conditions a reality. Through Race the Helix, we hope to raise awareness for GGC, rare genetic disorders and families on the same path as ours.

– Stephen and Jodi Shenal, pictured above with their children, Tyler and Ryleigh

Learn more about this amazing family and Race the Helix here.

Reggie has been part of the GGC family for over 18 years. He has short stature, webbing of his hands, pulmonary stenosis, seizures and hydrocephalus along with developmental delay. He carried an initial diagnosis of cardiofaciocutaneous (CFC) syndrome; however, as genetic testing advanced, GGC made the diagnosis of Noonan-like syndrome with loose anagen hair by identifying a mutation in the SHOC2 gene. He is also an active participant in the Greenwood Community Theatre’s Penguin Project.

“GGC is always compassionate and always very helpful. I trust them 100% with my child. With so many issues going on, Dr. Skinner and the staff helped us get to the doctors we needed for each of Reggie’s different problems

I wholeheartedly recommend that if you have a child with a disability and don’t know what’s going on, please come to the Genetic Center. Talk to the staff. They will make sure all of your questions are answered and they will treat you like you’re one of the family. They help me understand all of Reggie’s different problems. I know that I can pick up the phone anytime and call, and they will put my fears to rest.

It has been a blessing to have the Genetic Center in our lives.”

-Geraldine Carter, Reggie’s mother

We will remember February 26th for the rest of our lives.

On that day, we received the call from the Greenwood Genetic Center that they had discovered our daughter, Ella Marie, has Kleefstra syndrome.

Very early on, my wife, Kelly, observed Ella being delayed in some of her milestones. Kelly monitored Ella’s progression and sought out testing in an effort to get Ella some assistance. Along the way, we were sent to GGC and met with Dr. Roger Stevenson and Wesley Patterson. From our first meeting, they have been incredibly compassionate and supportive. When we received the diagnosis, what initially felt like a sentence of sorts quickly turned into an opportunity. In our first post diagnosis meeting, we met with Wesley, Dr. Stevenson, and Dr. Giovanni Neri, who was visiting for the month from Rome. We felt incredibly fortunate and supportive to have such incredible individuals as a part of Ella’s team. Dr. Stevenson is brilliant and compassionate and we are honored to have him working with Ella. We had a million questions as we first began navigating our new normal, and Wesley answered them every single time. Fran has also been a wonderful resource to our family and our individual needs.

Ella is an amazingly sweet, determined, and busy little girl, and her diagnosis hasn’t changed any of that!

Ella is now 5 with two incredibly supportive and protective older brothers, Jackson and Griffin.

The journey to becoming parents did not start as an easy one for my husband and I. We suffered the heartache of miscarriage and the unimaginable pain of burying our first born child. Our son, sweet 1 lb 1.4 ounce, 12 inches long, teeny, tiny little Joseph “Hamilton” Jones was born with spina bifida, hydrocephalus, and a heart defect. It tore our hearts out leaving the hospital without him, knowing our dreams and hope for the future were shattered. The next time that we would see him would be at a funeral home filled with people who had lived their lives for decades… his life was only a short 2 hours and 40 minutes. My husband and I were left choosing a small white casket, not much larger than the size of a shoebox for him to be buried in.

After things began to settle down, in the fall of 2007, the sweetest nurse visited us in our home. Her name was Jane, and she was with the Greenwood Genetic Center located in the upstate of South Carolina. She had traveled over 4 hours to visit us! She was that day,
and still is, passionately committed to providing heartfelt and compassionate care to families affected by genetic disorders. A part of Greenwood Genetic Center’s mission is researching the causes of these disorders, supporting the families that are affected by them, and discovering ways to prevent them from occurring as frequently. The hope is ultimately preventing genetic defects from occurring at all.

The information that was gathered from the research is complex, but the methods in preventing neural tube defects from occurring are simple … Folic Acid. A small pill, a multivitamin, ONLY 400 mcg, that is taken once daily! I began taking the multivitamin after our loss, and also began eating foods that were rich in folate (spinach, broccoli, asparagus, eggs, cereal etc.)

In 2014, seven years after the devastating loss of our son and meeting Nurse Jane Dean, we welcomed our beautiful daughter Brynleigh. She was born as healthy as can be, weighing 7lbs 9 ounces. About a year and a half later, our son Preston was born, also a super healthy little guy, weighing 9lbs 1 ounce! And a year and a half later after Preston’s birth, we welcomed another baby girl, Ellieana, weighing 7 lbs 11 ounces. Today, we have a healthy 3.5 year old, 2 year old, and 9 month old. These sweet, precious miracles are a gift from God.

We are thankful for the research of the Greenwood Genetic Center and the efforts spent towards supporting the families affected by genetic defects and preventing them from occurring in the future. We will be forever grateful for the services that they provide to our community and the compassionate family that we gained in them after such a life shattering loss.

Chris and Alicia Jones. Aynor,SC

When our daughter Lucy had a metabolic crisis at 7 days old, we were shocked and devastated to find out that she was born with a rare genetic disorder (MSUD). Her newborn screening results did not make it back in time to prevent the crisis, and no one at our local hospital was familiar with the disease. They did not know how to treat her.

Calls were made to Greenwood Genetic Center to confirm her diagnosis and guide her care. Dr. Champaigne and Amie Thompson from Greenwood met with us in the PICU room where Lucy was unconscious, and they shared the prognosis – the challenges, developmental delays, and the daily lifelong care required to keep Lucy from having more metabolic crises. They not only shared the knowledge and expertise that we needed to help Lucy, but they brought the support and strength our family needed when we felt lost (and the magic formula to keep Lucy alive!). They gave us hope that everything was going to be okay, and no matter what, they were going to be there with us, taking it a day at a time.

They stood by us in the coming months as we navigated blood draws, therapies, clinics, tube feeds, formula-mixing and measuring, and all the work required to help Lucy recover and keep her stable. They were responsive to every urgent issue that we faced and were tremendously helpful in giving personal advice as well. The most memorable example of this was during Lucy’s 9-month clinic appointment, when Dr. Champaigne strongly recommended that we take the route of liver transplantation as a treatment for Lucy’s MSUD. Her influence on this decision was invaluable.

The excellence of the care and attention Lucy has received from Greenwood Genetic Center is better than I could have ever imagined and exactly what anyone would want for his or her child in the same situation. We have always been able to count on Dr. Champaigne to advocate for our child in ways that are important and
meaningful to us, but also far-reaching. She has gone above and beyond to make vital, life-saving changes to the newborn screening process, and every time we were faced with an inpatient visit, she proactively communicated plans for Lucy’s treatment with the hospital to yield the best possible results. These things always gave us confidence that positive changes were happening, and that Lucy was going to be alright.

GGC’s commitment to research and their sincere interest in improving the quality of life for families and children faced with rare disease is outstanding. We just celebrated the 2-year anniversary of Lucy’s liver transplant! She is doing amazing. I am certain that the meticulousness of her care in the first two years of her life gave her exactly what she needed and prevented the potential side effects of MSUD. She is now a bright, happy 3-year-old living life to the fullest.

We are forever thankful for Greenwood Genetic Center and all they have done to give hope for babies and children with rare diseases. They have helped change the course of our life and completely expanded the possibilities for Lucy’s future.