Meet Ella

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 21 months old with two incredibly supportive and protective older brothers: Jackson, 5, and Griffin, 3 ½. Over the past month, Ella has been outfitted with some special shoes and SMO braces that have assisted her to start walking! While mostly non-verbal, she has also learned a few words and is able to use some sign language in order to communicate some of her needs to us.

Ella’s future is extremely bright! We are incredibly thankful for the team at GGC. We honestly feel that we have been given this opportunity, and the fact that the GGC is in our community only strengthens that belief. Thank you to the whole team for not only helping us identify this rare syndrome, but to also lift us up as we move forward! The GGC has become family and an integral part of “Team Ella”. They have and continued to provide ongoing support and care for our daughter and family. We are honored to support GGC and the foundation for contributions they make to our family and other families in similar situations.
-Geoff Rhyne

Meet Jeremiah

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.”

Meet Makayla Gunn

Makayla was diagnosed with Rett Syndrome in April of 2015 at the age of two. At about 18 months, we noticed she had started some repetitive hand motions, and her pediatrician was a little concerned that she did not have many words. She had learned some sign language, and was saying ‘mama’ and ‘dada’, but that was it. Then she suddenly stopped all of that. At her 2 year old check-up, the pediatrician referred us to BabyNet, SC’s early intervention program. Our BabyNet caseworker recommended that she be evaluated by the Greenwood Genetic Center.

We met with Dr. Mike Lyons at GGC’s North Charleston office. He evaluated Makayla and suggested some genetic testing. A few weeks later, he broke the difficult news of Makalya’s diagnosis in a most gracious way. He also immediately recommended we meet with Dr. Steve Skinner in the Greenwood office, who is an expert in Rett syndrome. Though we were overwhelmed at all we needed to know, Dr. Skinner, Fran, and the whole staff were wonderful at that first meeting, giving us all the time we needed to ask questions. Their compassion for families like ours really showed through that day and continues to this day. They have remained accessible and informative, staying up to date on any changes or developments related to Rett syndrome and sharing those as appropriate. They have been so encouraging for our family as we navigate through what, for us, are uncharted and scary waters. We have also enrolled in the Rett Syndrome Natural History Study through GGC.

Despite her diagnosis of Rett syndrome, Makayla is a happy little girl. We are blessed that she can do the things she can do! She can still walk, unlike so many girls with Rett syndrome, but she also skips and runs in short distances when she is excited. She loves being outside, and her favorite thing to do is play in water, at the pool, the beach, and even in the bathtub. Close behind that is riding her rocking horse, which she would stay on for hours if we let her.

She also loves to watch sports, particularly basketball and football. With four older brothers, she has had many opportunities to watch games! And, she loves to dance, especially to Michael Jackson and Johnny Cash! Makayla’s diagnosis has been an incredible challenge for our family, but learning about and dealing with Makayla’s condition has done a couple of amazing things. First, it has drawn us closer together as a family. Second, it has brought out a love in each of us that we just did not know was there. I do not think there is any sweeter sound than when Makayla gets tickled and laughs and laughs. Our boys at times even vie for a turn at holding her, and often we have to kick them out of her room at bedtime! She has and continues to bless our family in so many ways.

To learn more about Rett syndrome visit rettsyndrome.org and the Rett Syndrome Research Trust.

-Hollis and Julie Gunn Mt. Pleasant, SC

Meet Reggie Roper

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

Meet The Jones Family

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

Meet the Shenal Family

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.

Meet the Shorter Boys

Unexpected.

If there is a term that sums up life it could very well be: unexpected. Life is full of unexpected moments. Some of these moments can be full of unexpected
blessings while others may be full of unexpected obstacles. However, sometimes the unexpected can be both an obstacle and blessing at the same time; you just need someone to help you see both sides. The Greenwood Genetic Center is a place that helps shed some light on the unexpected moments of life and celebrates the many blessings of progress and hope along the way.

We know, first-hand, the role that Greenwood Genetic Center plays in lives of families who encounter the unexpected. We have been blessed three times over with three little boys who each have their own obstacles and challenges that life has to offer. From autism to genetic abnormalities each of our boys have been patients of the Greenwood Genetic Center.>/p>

As a parent, you sit and wait to find out if someone can place a name on the issues that you are facing. You understand that knowing what challenges your child faces will not make the challenges go away. However, it is an encouragement to be able to name and gain an understanding for the unexpected. For once, you begin to have expectations. The Greenwood Genetic Center sat down with us in order to discuss every possible scenario involving each of our sons and their personal obstacles. They have always made themselves available should we have any questions or concerns. From the moment you check in at the desk until you have finished meeting with the doctor, you are met with warmth and compassion, which is a necessity in this field of medicine.

While life may be full of unexpected challenges and obstacles, one should never overlook the unexpected blessings of watching children overcome their obstacles. As families, we celebrate each milestone that our children arrive at knowing that they had to overcome and persevere to arrive at that point. The beauty
of the blessing is that no family that goes through the doors of the Greenwood Genetic Center ever goes through the challenge alone.

One Mother's Story

After a long three-year struggle trying to have children, our son, Charlie, was born on April 18, 2009. He was our miracle…perfect in every way! When Charlie was five days old, our pediatrician called to notify us that one of the numbers from the heel prick test was a bit high. We headed to the hospital that afternoon for more tests.

I will never forget the following day. It was cool and crisp – not a cloud in the sky. The next thing I know, our pediatrician showed up at our door. The tests had confirmed that our son had a very rare metabolic disorder called Isovaleric Acidemia or IVA and we must go straight to the hospital.

Our pediatrician was in direct contact with Dr. Neena Champaigne at the Greenwood Genetic Center, and we met with her the very next day. She explained that Charlie could not process a component of proteins called leucine. Although IVA is a serious metabolic disorder, we were relieved to find out that it could be treated through his diet. We also learned that Charlie was the only child in South Carolina with IVA. Before Dr. Champaigne left the hospital, she told us that through the support of GGC, “we were not alone.”

There are no words to express our family’s thanks and appreciation to the couriers, to the lab technologists, to the doctors, to the nutritionists, to the entire staff of the Greenwood Genetic Center, all of whom give tirelessly of themselves so that we don’t even feel alone. They are “Charlie’s Angels!”

– Brooks Connor

Lucy's Story

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.

Lucy's Story

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 Ami...

In The News