A Family Affair: GGC families play crucial role in 'Race the Helix'
It was December 3, Phenylketonuria (PKU) Awareness Day, in 2018 when Jeremy and Dianna Puskas of Greenville, SC got the call that would change their lives forever – their adoption agency had a match! A two-year-old boy in China was in need of a home, but he had been diagnosed with PKU, a metabolic disorder, and the agency suggested that they consult with a specialist before moving forward with the adoption.
The Puskases were referred to GGC’s metabolic clinic where children and adults with PKU are treated and followed by a team of experts in metabolic disorders. Dr. Neena Champaigne met with the prospective parents. “She was so good at answering our many questions and helping us feel like we could manage his needs,” recalls Jeremy.
Individuals with PKU are unable to make an enzyme called phenylalanine hydroxylase (PAH) which metabolizes proteins from the diet, specifically the amino acid phenylalanine (phe). The treatment for PKU, which is generally identified through newborn screening, includes a restricted diet that is low in protein, especially phe.
“Elevated phe levels can be very detrimental, especially for young children,” said Meaghan Bade, RN, a nurse in GGC’s metabolic clinic. “If left undiagnosed or untreated, high phe levels can cause growth issues, seizures, and significant developmental and intellectual disabilities.”
“All we knew when we brought Levi home was what he had been eating, which was not standard fare for PKU, and his recent phe levels,” added Jeremy. “We knew nothing else about his medical history.”
Once Levi joined his new family and was under the care of GGC’s metabolic team, they noticed that his blood work didn’t fit with the typical PKU patient. Additional testing revealed that Levi didn’t actually have PKU, but a similar disorder called 6-PTPS deficiency. By getting to the correct diagnosis, Levi’s treatment changed allowing him to consume a normal diet and manage his disorder through medication alone.
“Once we had the right diagnosis and were able to start a more normal diet, there was a huge improvement in Levi’s mood,” said Dianna. “It’s amazing how much happier two-year-olds are when they aren’t hungry!”
Levi was also experiencing mild developmental issues when he first came to GGC, but through careful monitoring and his medical management, he is thriving. “It was like parts of his brain turned on for the very first time,” added Dianna.
In the early days of the pandemic, when employees were feeling disconnected, Dianna’s colleagues at Edward Jones in Greenville decided to come together for a service project which has evolved into a regular quarterly event. Dianna started a fundraiser for the group with all proceeds benefitting Race the Helix-Upstate.
“I’m so grateful for the support we have received from GGC. Even before we were technically ‘patients,’ they gave us the confidence and knowledge to adopt this extra-special boy,” said Dianna. “They didn’t take his diagnosis at face value, and instead went the extra mile to find his correct diagnosis which is the only reason his brain now works the way it should.”
“Levi is funny, kind, and adventurous,” added Dianna. “He wants to be a ‘fireman who rides a motorcycle into space’ when he grows up, and he loves running, like his dad. And as much as he likes to win, he also likes to celebrate who ‘won next.’ He was right at home at Race the Helix!”
The funds raised by Dianna and her colleagues for Race the Helix-Upstate support the GGC Cares Fund providing coverage for vital genetic testing for patients who are uninsured or underinsured.
“Any time we have an issue, all I have to do is tell GGC, and they take care of it. It’s like magic! Levi would not be where he is today, either with his health intact or even as a part of our family, without GGC.” – Dianna Puskas
After cancelling the 2020 race and holding the 2021 event virtually, the GGC team was excited to be back in person for Race the Helix-Upstate this year. The 8th annual event was held on April 30 at Conestee Nature Park in Greenville, SC.
“Our wonderful team of volunteers, generous sponsors, and enthusiastic participants made my first Race the Helix such an amazing experience,” said Cady Nell Keener, Executive Director of the GGC Foundation. “It was a thrill to meet several GGC families, like Levi’s, who shared such wonderful stories about the care they receive at the Center.”
Brooks Connor, mom to Charlie, 13, who has been followed by GGC since he was a newborn, agreed. “When Charlie was diagnosed with isovaleric acidemia at five days old, he was the only child in South Carolina with that diagnosis. We felt so alone. But once we connected with GGC, we knew we were not alone. They have been there every step of the way to support not only Charlie, but our whole family.”
The Connors have been the host family for Race the Helix-Upstate since its inception – sharing their GGC story and participating in planning the event. “We love being part of Race the Helix to help support the work of this amazing place. We call our GGC team ‘Charlie’s Angels’ because that’s what they have been to our family,” added Brooks.
Race the Helix started as the idea of another family who wanted to do something to give back to GGC after their daughter’s diagnosis.
Ryleigh Shenal, 11, was diagnosed at GGC shortly after birth with a rare deletion of part of chromosome 1. Ryleigh’s mom, Jodi recalls, “I’ll never forget the feeling when Dr. Skinner called to tell us the results of the genetic testing. We were frightened, worried, and had no idea where to turn next. Then he said ‘Remember. Ryleigh is the same beautiful baby she was before this call.’ Those words have stayed with me through all of these years, and we are eternally grateful for all that GGC has done for our family.”
Out of that appreciation, Race the Helix was born. The Shenal family planned the first event in Greenwood in 2011 with the hope of raising awareness of genetic disorders and funds to support GGC’s work.
“Now, 12 years, 21 races, and hundreds of thousands of dollars later, Race the Helix is still having a tremendous impact on GGC and the patients and families we serve every day,” added Keener.
The next Race the Helix will be held in Greenwood on Saturday, October 8. 2022. Learn more and register here.
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....