The day I became a living donor for my daughter's liver transplant was a life-changing experience, one that I'll never forget. As I woke up, surrounded by the bright lights and the sounds of the medical team, I felt a mix of emotions. The pain in my chest and abdomen was intense, but it was overshadowed by the knowledge that my baby girl, Ruby, was undergoing a similar journey just down the hall.
That day, June 11th, marked the end of months of research, worry, and preparation. We embarked on this journey to improve Ruby's quality of life, knowing that her medical condition, PMM2-CDG, was rare and complex.
When Ruby was born, we had no idea about the challenges ahead. It was only after a few weeks that we realized something was amiss with her feeding and weight gain. The true extent of her condition became apparent at around two months, when ultrasounds revealed fluid buildup in her abdomen and around her heart. She was rushed to Great Ormond Street Hospital, and our lives changed forever.
Our first Christmas as a family was spent in the intensive care unit. Ruby's diagnosis brought her and an estimated 1,000 to 2,400 others worldwide together in a rare metabolic condition. Her multi-systemic condition had a severe impact on her liver, leading to dangerous fluid retention and seizures. These were the most terrifying moments of my life.
Initially, a transplant was seen as a last resort, but as time passed, it became clear that it could be a transformative step. After thorough assessments and discussions, Ruby was confirmed as a candidate for a liver transplant, making her the first PMM2-CDG patient in Europe to undergo such a procedure.
I knew I wanted to be her donor. Being in good health and a close genetic match, I felt it was my duty as her mother to take on this role. The living donation process is intricate and high-risk, but the potential benefits for Ruby outweighed any fears.
My journey as a donor began with a series of tests and imaging. I was assigned a wonderful transplant coordinator, Matilda, who helped me navigate the complex medical terminology and prepare mentally for the procedure. The wait was long and anxious, especially with the knowledge that any delay could impact Ruby's health.
The original surgery date in April was postponed due to the urgent needs of another child. We were rescheduled for May, but the anxiety of keeping Ruby well, especially with our frequent hospital visits, was intense.
On the eve of the May surgery, a blood test result caused concern. Ruby's kidney function wasn't as expected, and the surgeons decided to postpone. I attended the meeting, fully prepared to go ahead, only to be told the surgery was off. It was a difficult decision, but one that demonstrated the care and caution of the medical team.
Finally, in June, we were ready. I spent the night before in Ruby's room, and the morning of the surgery was filled with a surprising sense of buoyancy among the medical staff. I was put under with a chemical sleep, mid-sentence, and woke up hours later, feeling as though no time had passed.
News of Ruby's successful surgery helped me through the haze. I was taken to the ICU, and after two days, I was reunited with my daughter in the PICU. Seeing her intubated and hooked up to numerous IVs, I felt a calm wash over me. My mother's instinct told me she would be okay.
The following days and weeks were challenging. Ruby's suppressed immune system meant she was vulnerable to viruses and infections. My own recovery limited my ability to comfort her physically, and I felt my energy and focus wane. Advocating for a child with a rare condition is demanding, and I found myself at my limit during this period.
They say a child transforms after a transplant, and Ruby's changes are indeed remarkable. Her vibrant, funny, and curious spirit has always been there, but now her body has the strength and energy to match. She's gained weight, has more energy, and her cognitive development has accelerated. She's exploring movement and interacting more, truly embodying her curiosity.
While there are exciting treatments on the horizon, such as gene therapy and brain organoid research, the liver transplant has been a significant step forward for Ruby. It has placed her in a position to benefit from these potential cures. We, along with other families through CDG UK, are working hard to fund and collaborate with research bodies.
The first year post-transplant is the toughest, as high levels of immunosuppression are required to prevent rejection. This has made Ruby more susceptible to infections during the winter months. While we've seen her progress developmentally, our main hope is for her to be healthier and spend less time in the hospital.
After some time at home, we're facing another hospital stay during the holidays. It will be our second Christmas at Great Ormond Street, but we know it's just another hurdle. We're fortunate to have the support of our family and friends.
This journey has been challenging, but it has also shown me the kindness and compassion that exist in the world. I've met incredible individuals dedicated to caring for others and making their lives easier.
When people learn I was Ruby's donor, they often express admiration, but I simply did what any parent would do. Fear wasn't an option when my child's life was at stake. PMM2-CDG may sound bleak on paper, but meeting Ruby and others like her reveals a whole, vital, and loving person beyond the diagnosis.
You can support children living with PMM2-CDG by visiting cdg-uk.org/support-us and following @projectpmm2 on Instagram.
