A visit to the emergency room can be a scary and inconvenient experience, but for Jones County resident, Stephanie McDonald, it became routine.  

Stephanie is a vibrant and ambitious business owner who refused to let her struggles with Gitelman Syndrome control her life, but the symptoms of this pervasive and heavily misunderstood disease kept her in the hospital constantly.  

According to the National Organization for Rare Disorders, Gitelman Syndrome, “is a rare genetic disorder in which there is a specific defect in kidney function. This defect impairs the kidney’s ability to reabsorb salt and causes changes in various electrolyte concentrations as well as contraction of extracellular fluid volume (thus causing symptoms of dehydration). The electrolytes affected are primarily mineral ions, specifically potassium, calcium, magnesium, sodium and chloride.” 

In Stephanie’s case, she finds herself depleted of potassium and magnesium, which are essential nutrients that aid in the functionality of many systems within the body. For Stephanie, the depletion of these nutrients causes muscle weakness and cramps, dizziness, salt cravings, excessive thirst, as well as tingling and numbness.  

“Before I started getting infusions, I was at the hospital constantly,” said Stephanie. “We had this little system with my mother-in-law where we would turn the outside light on if we were gone to the hospital because we went to the hospital every other night.”  

These symptoms and experiences are common among Gitelman Syndrome patients, who often feel as though they are struggling with an invisible disease.  

“People look at me and they can’t tell that anything is wrong with me,” said Stephanie. “They don’t see the daily issues.” 

 Gitelman Syndrome can also cause long-term effects, including issues with fertility, growth and cardiovascular health. Infusions of depleted vitamins and nutrients can help improve a patient’s symptoms.  

Stephanie has been receiving infusions for 10 years. She visits South Central Infusion Center twice a week to receive six-hour-long infusions. Throughout the years, she has created a routine that works for her.  

“I have a special little room,” said Stephanie. “I know exactly where to go. They put a warm blanket on me, and they get me snacks.” 

She has also developed friendships with the nurses and other staff who have cared for her so well. 

“Stephanie is an extraordinary patient here at South Central Infusion Center, said South Central Infusion Care Coordinator, Hali Strength, RN. “She does not let her disorder get the best of her. Patients like her make our job easier and so much more enjoyable. Like her, when our patients come in, it’s not always under the best circumstances and they do not feel their best. We enjoy putting a smile on these patients’ faces before they leave here and hopefully shine a little light on a dark situation.”       

These infusions improve her quality of life exponentially, giving her the energy to enjoy her daily life and spend significantly less time in the hospital. Managing a rare disease is never easy, but it helps when treatment is convenient and customized.  

“There isn’t a reason to drive anywhere else when I can get amazing care here,” said Stephanie.  

The South Central Infusion Center can administer most drugs ordered by a licensed physician, approved by the patient’s insurance and can be provided by the SCRMC Pharmacy. Services are available by appointment only. For more information, please call 601-426-5140.