The Year I Donated My Liver to My Daughter: A Life-Changing Journey
A Mother's Courageous Decision
Waking up to the sounds of the operating room, I was aware of the bright overhead lights and the bustling activity of the surgical team. But amidst the chaos, I couldn't help but feel a searing pain across my chest and upper abdomen. It was a moment of realization that my life was about to change forever. Not only was I undergoing major surgery, but my baby daughter Ruby was about to receive a segment of my liver in an attempt to improve her quality of life.
This day, June 11th, marked the culmination of months of worry, research, and preparation. We had embarked on a life-changing journey of living donor transplant surgery to address the challenges posed by Ruby's rare and complex medical condition, PMM2-CDG.
A Journey Begins
Ruby's health journey began with a seemingly normal birth in October 2023. However, within a few weeks, we noticed that she was struggling with weight gain and feeding. Initial diagnoses were vague, but as time passed, it became clear that something was seriously wrong. At around two months, ultrasounds revealed huge volumes of fluid in her abdomen and around her heart, leading to her urgent transfer to Great Ormond Street Hospital (GOSH).
Our first Christmas morning as a family was spent in the intensive care unit. At just under three months, Ruby was diagnosed with PMM2-CDG, a rare metabolic condition affecting an estimated 1,000-2,400 people worldwide. This diagnosis brought a cascade of complications, leading to Ruby spending most of her young life at GOSH. My husband, Steve, and I took turns staying in a single bed in her room.
The Impact of PMM2-CDG
Ruby's condition is multi-systemic, with a particularly detrimental effect on her liver from an early stage. This led to dangerous episodes of fluid retention, inability to gain weight or grow muscle, and two catastrophic seizures. Her liver couldn't filter her blood adequately, resulting in a toxic level of ammonia in her system. These were the most terrifying times of my life.
At first, a transplant was discussed as a last resort, but as time passed, it became clear that it could be transformative within the context of her condition. After an in-patient assessment at King's College Hospital, including extensive scans, blood tests, and careful discussions about the procedure's efficacy and safety, Ruby was confirmed as a candidate for a liver transplant. She would be the first PMM2-CDG patient in Europe to receive one.
A Mother's Instinct
I knew immediately that I wanted to be Ruby's donor. As well as being in good health and a close genetic match, I felt that any other option, like waiting for a deceased donor, would simply delay things for too long. Instinctively, I felt that, as her mother, it had to come from me.
The Living Donation Process
My work-up began the following week, starting with a day of imaging and tests. The living donation process is complex and considered high risk, not just for the recipient but also for the donor. While the benefit of helping my child become well was worth any risk, the surgeons' meticulous precision and logic often tempered my deeply emotional connection to the process. I was assigned a living donor transplant coordinator, Matilda, who helped humanize the process by translating clinical scenarios into understandable language, allowing me to prepare mentally and navigate the myriad emotions and practicalities.
Waiting for the Operation
The first surgery date was set for April, but another child awaiting a transplant became more critical, forcing us to wait until May. The anxiety of trying to keep Ruby well, especially while spending so much time in the hospital, was extreme. Even in protective isolation, she could easily destabilize, potentially canceling the surgery.
On the eve of the May surgery, one of Ruby's blood tests returned a value that didn't give anyone confidence that the surgery should go ahead. While no one expects perfect blood results from medically complex patients, the kidneys, which must function well immediately after surgery, were not as they should have been. As one surgeon said, 'She would have probably been fine, but probably isn't good enough.' I took great comfort in the care they displayed with that decision.
The Operation Day
Another month passed, and finally, we were ready. I spent the night before in Ruby's hospital room, collecting my gown and surgical wash in advance. My surgery was to take place first, and only then would they bring Ruby down to the operating theater.
When the time came, I kissed Steve goodbye, and the atmosphere among the surgeons and anesthetists was surprisingly buoyant. I assumed I'd be asked to count down from ten while being put to sleep, but instead, I was cut off by a deep, chemically induced slumber mid-sentence, telling the medical staff about my job as a yoga teacher. The next thing I remember was being roused energetically, with a nasogastric tube being pulled out of my nose as my eyes flickered open. It felt like no time had passed, but in fact, my surgery alone had taken about four hours.
Post-Surgery Recovery
News of Ruby's surgery progressing well helped bring me out of my daze. I was taken to the ICU, where I remained bed-bound for two days. Finally, I was reunited with Ruby in the PICU. I was pushed up in a wheelchair, and even sitting upright seemed to take all my energy, but it was worth it to see Ruby. She was intubated and hooked up to more IVs than I'd ever seen, but I felt a wave of calm wash over me, knowing in my mother's instinct that she was going to be OK.
The days and weeks that followed were tough. Ruby's newly suppressed immune system meant any virus or infection could latch onto her. Recovering from my own surgery, I found it physically challenging to pick her up to comfort her. My energy and focus were significantly depleted, and advocating for a child with a rare and complex condition in the hospital was demanding. But it was worth it.
A Transformative Change
They say you get a completely different child post-transplant, and while the changes are remarkable, Ruby is more herself than ever. Inside her previously poorly, undernourished body, there was always a vibrant, funny, kind, and curious little girl with an incredibly mighty spirit. Now, her body possesses the strength and energy to let her live fully. She is bigger and stronger, having gained two kilos in weight and added length to her frame in just a matter of weeks post-surgery. She feeds better and has much more energy.
Her cognitive development has accelerated significantly. It's clear that her eyesight has improved, and she is able to engage and interact more. She can now sit independently for short periods, there is a new stability to her spine and core, and as a result, she is exploring more movement, embodying her clear curiosity for the world around her.
Looking Ahead
Although some exciting and potentially curative treatments are in trial, this liver transplant has been the most meaningful step forward in Ruby's condition so far. It places her in a position to benefit from promising potential therapies on the horizon, such as gene therapy and novel work into brain organoids. We, along with other families in CDG UK, are working hard to fund and collaborate with numerous research bodies.
While there are still challenges, we were warned that the first year post-transplant is the toughest, as they keep the levels of immunosuppression particularly high to ensure her body doesn't reject the transplanted liver. This has come with its own complications, as she has become more susceptible to catching bugs during the winter months. However, seeing her progress developmentally has been a joy, and my main hopes for the transplant were that she wouldn't be so frequently unwell and that she wouldn't have to spend so much of her life confined to the hospital.
A Journey of Kindness
As well as having her whole extended family around her, Ruby is supported by an excellent community team of nurses, therapists, and play workers. When at home, she has ongoing outpatient monitoring from GOSH, King's, and University College Hospital. This journey has not been easy, but one of its many gifts has been to remind me that real human kindness exists, and it has introduced me to a wealth of individuals who make it their mission to care for you and make your life a little easier.
I am frequently met with admiration when people learn that I was Ruby's donor, but I am simply doing what any parent would do for their child, given the chance. Fear isn't an obstacle when your child's life is at stake. On paper, PMM2-CDG can sound bleak, but when you meet my daughter and all the other children like her, you realize that there is a whole, vital, and life-loving person beyond the diagnosis.
Support Ruby's Journey
You can support children living with PMM2-CDG by visiting cdg-uk.org/support-us and following @projectpmm2 on Instagram.
