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.

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

Charlie Connor

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 form 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

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

Hollis and Julie Gunn Mt. Pleasant, SC

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 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 interve...

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