London, June 12, 2024 — A mother’s desperate gamble to save her daughter’s life with a rare liver transplant has offered a beacon of hope for families facing similar medical crises. The groundbreaking surgery, performed on Wednesday, June 11, saw Elle Daniel donate a portion of her liver to her daughter, Ruby, who suffers from a devastating metabolic disorder.
A Mother’s Sacrifice: Pioneering Liver Transplant Offers Hope for Rare Condition
A mother’s selfless act of donating a portion of her liver to her infant daughter has provided a life-altering opportunity for a child battling a rare and complex medical condition.
- Ruby was diagnosed with PMM2-CDG, a rare metabolic condition affecting an estimated 1,000-2,400 people worldwide.
- The liver transplant, performed at Great Ormond Street Hospital, makes Ruby the first PMM2-CDG patient in Europe to receive the procedure.
- Elle Daniel, Ruby’s mother, served as the donor, driven by a desire to expedite treatment and a deep maternal instinct.
- While challenges remain, the transplant has already shown promising improvements in Ruby’s growth, development, and overall quality of life.
What is PMM2-CDG and why is this transplant significant? PMM2-CDG is a rare genetic metabolic disorder that disrupts many bodily functions. This liver transplant is significant because it represents a novel approach to managing the condition, offering a potential pathway to improved health and development for Ruby, and potentially for other children with PMM2-CDG in the future.
Ruby’s health journey began normally after her birth in October 2023. She was discharged from the hospital the day after delivery and initially followed by community midwives who were satisfied with her progress. However, concerns arose around three to four weeks old when she struggled with weight gain and feeding. Initially dismissed as simply being an “un-greedy baby,” the situation rapidly deteriorated at two months when ultrasounds revealed significant fluid buildup around her heart and abdomen. She was immediately rushed to Great Ormond Street Hospital (GOSH) for life-saving treatment.
The family spent their first Christmas in intensive care. At just under three months, Ruby received a diagnosis of PMM2-CDG, a condition that has necessitated most of her young life to be spent at GOSH, with her parents, Steve and Elle, taking turns staying with her in a single hospital room.
Ruby was diagnosed with the rare metabolic condition known as PMM2-CDG
Ruby’s condition impacted her liver significantly, leading to fluid retention, difficulty gaining weight, and two life-threatening seizures requiring resuscitation in the paediatric intensive care unit (PICU) due to dangerously high ammonia levels in her blood. These were, in her mother’s words, “the most terrifying times of my life.”
Initially, a transplant was considered a last resort, but as Ruby’s condition progressed, it became clear it could dramatically improve her quality of life. Following extensive assessments at King’s College Hospital’s Rays of Sunshine Ward, including scans and blood tests, Ruby was confirmed as a candidate—the first PMM2-CDG patient in Europe eligible for a liver transplant.
Elle knew immediately she wanted to be the donor. A close genetic match and her good health made her an ideal candidate, but she also felt a profound maternal instinct to provide the quickest and most direct path to her daughter’s well-being.
The evaluation process began in January, involving a comprehensive series of imaging and tests. Living donation carries inherent risks for both donor and recipient. While acknowledging the risks, Elle felt the potential benefit to Ruby outweighed them. She worked closely with a living donor transplant co-ordinator, Matilda, who helped navigate the complex emotional and logistical aspects of the process.
The surgery was initially scheduled for April, then postponed due to another child’s urgent need for a transplant. A further delay occurred in May when Ruby’s kidney function wasn’t optimal, prompting surgeons to prioritize her safety with the decision, “She would have probably been fine — but probably isn’t good enough.” Finally, the surgery was scheduled for June 11.
Being in good health and a close genetic match, Elle signed up to be her daughter’s liver donor
Elle’s surgery took place first, with surgeons removing a portion of her liver for evaluation before proceeding with Ruby’s transplant. She awoke from surgery feeling surprisingly well, after about four hours, with a nasogastric tube being removed. News of Ruby’s successful surgery brought immense relief.
The initial days post-transplant were challenging, with Ruby’s suppressed immune system making her vulnerable to infection. Elle’s own recovery was also demanding, making it physically difficult to comfort her daughter. Despite the setbacks, Ruby has shown remarkable progress, gaining weight, increasing in size, and experiencing significant cognitive and developmental improvements. Her eyesight has improved, and she is now able to sit independently and explore her surroundings with newfound stability.
While promising treatments like gene therapy are in development, the liver transplant has been a transformative step for Ruby, positioning her to benefit from future therapies. The family is actively involved with CDG UK, supporting research and collaboration with various research institutions.
The first year post-transplant remains the most challenging due to high levels of immunosuppression, increasing Ruby’s susceptibility to illness. Despite recent hospitalizations, the family remains optimistic. They are currently spending Christmas at GOSH, their second in a row, but remain grateful for the support of their community.
Elle emphasizes that while PMM2-CDG can appear daunting, her daughter is a vibrant and resilient individual. She believes that any parent would make the same sacrifice given the opportunity.
You can support children living with PMM2-CDG by visiting cdg-uk.org/support-us and following @projectpmm2 on Instagram.
