Girl, 3, Faces Second Organ Transplant After She and Her Brother Were Diagnosed with Rare Genetic Condition (Exclusive)

A three-year-old girl in Northern Ireland is preparing for her second organ transplant after being born with an extremely rare genetic condition. Etta Cartmill, of Newry, and her older brother, Olly, 6, both have TTC21B, a condition that often leads to kidney failure but can affect other organs as well.

A Rare Genetic Challenge

TTC21B is a rare genetic condition that presented significant health challenges for both Etta and Olly from birth. Both children developed stage 5 kidney failure, requiring intensive medical intervention. Olly underwent home-based dialysis for two and a half years, a demanding process that transformed their home into a medical environment.

Did You Know? Olly Cartmill received a kidney transplant from his grandmother, a procedure described by his mother as life-changing.

Complex Medical Journeys

While Olly’s condition improved significantly after receiving a kidney transplant from his grandmother, Etta’s case has proven more complex. She initially required regular blood transfusions due to dropping hemoglobin levels. Further testing revealed she had developed portal hypertension and a scarred liver, necessitating a liver transplant.

Etta has since received a liver transplant from an organ donor, which her mother, Dionne, reports has dramatically improved her daughter’s quality of life. Before the transplant, Etta experienced constant pain, agitation, and physical discomfort. Now, she is described as thriving, enjoying activities like listening to music, dancing, and playing.

Expert Insight: The case of Etta and Olly highlights the profound impact rare genetic conditions can have on families, and the critical role of organ donation in providing life-saving treatment options. The need for ongoing medical care and potential multiple transplants underscores the long-term commitment required for these patients.

Looking Ahead

Despite the success of her liver transplant, Etta’s medical journey is not yet complete. She currently requires in-hospital dialysis three to five times a week for her kidneys and continues to receive various medications and physical therapy. Dionne Cartmill is planning to donate a kidney to Etta, expressing optimism based on the positive outcome of Etta’s liver transplant.

Dionne anticipates that Etta’s kidney transplant will be less complex than her liver transplant, with a hospital stay of just under five weeks. She has no concerns about donating a kidney, believing she can maintain a full and healthy life with one kidney.

The Importance of Organ Donation

Dionne Cartmill emphasizes the importance of discussing organ donation with family members, stating it offers “the absolute gift of life.” She expressed gratitude to the anonymous family who donated the liver that saved her daughter’s life.

Frequently Asked Questions

What condition do Etta and Olly Cartmill have?

Etta and Olly Cartmill were both born with TTC21B, an extremely rare genetic condition that most commonly affects the kidneys but can affect other organs.

What transplants has Etta Cartmill received?

Etta Cartmill has received a liver transplant and is preparing for a kidney transplant.

What is Dionne Cartmill’s plan for Etta’s kidney transplant?

Dionne Cartmill is planning to donate a kidney to Etta.

Considering the challenges faced by families navigating rare genetic conditions, what role do you believe community support and awareness play in improving patient outcomes?