Emer's Story
Emer’s medical journey began long before she set foot in an Irish hospital. Born in the UK, Emer was only nine months old when she underwent open heart surgery. Although her condition wasn’t fully diagnosed at the time, the early signs of a rare underlying disorder, known as Jacobsen Syndrome, were already present. At age four, after relocating with her family to Kilkenny, Emer was referred to Children’s Health Ireland (CHI) at Crumlin where genetic testing finally confirmed the diagnosis.
Jacobsen Syndrome, along with a range of other medical challenges including a bleeding disorder, an eye condition, global developmental delay, and a degree of immunodeficiency, meant Emer’s path through childhood and adolescence was filled with frequent hospital visits. The added complexity of immunodeficiency means Emer’s vulnerability to infections require extra precautions. Emer’s mum, Mary, reflects on her journey not just with resilience, but with deep gratitude for the care Emer received.
Their first experience walking through the doors of CHI in 2012 was overwhelming. “It was all very new,” Mary recalls, “but we’ve always felt so supported.” One of the greatest challenges over the years has been managing Emer’s ADHD during long waits and procedures, particularly during phlebotomy. “It used to be so hard, but there was a lot of bribery involved” Mary jokes. Improvements in hospital systems and the support of a special school have made things more manageable, though even today, blood draws can be difficult due to Emer’s challenging veins, sometimes requiring multiple attempts or resorting to her foot. Despite this, Emer, who is also diagnosed with autism, remains incredibly brave and rarely complains when facing each challenge with utmost strength.
“The consultants were always so understanding,” says Mary, “and the clinical nurse specialists have been phenomenal”. Mary recalls how the Clinical Nurse Specialists; RJ and Sam from Immunology, and Imelda and Mary from Haematology, have made a huge difference for her and Emer in providing reassurance, breaking down complex information after appointments, and always being just a phone call away whenever she had a question or concern.
Throughout her time at CHI, Emer has formed a great bond with many members of her care team, becoming a well-loved and popular face among the staff. She particularly enjoys seeing familiar doctors who know her well. Mary highlights numerous staff that have made a lasting impression; Dr. Beatrice Nolan, Emer’s haematologist from the beginning, Dr. Ronan Leahy, one of her longest-running consultants, Dr. Emer Fitzpatrick, and Dr. Lina Woods.
As Emer recently turned 18, the transition to adult services has begun. But in the meantime, the team at CHI continues to provide interim support which has offered valuable assistance through this transition. Their guidance has helped ease the process, ensuring Emer still has access to the care and reassurance she’s relied on for years.
Despite the challenges she faces, Emer’s personality shines through, and she continues to show incredible strength. Mary highlights practical aspects of hospital life that made a real difference, such as the value of parent beds and the simple but vital utility of parent rooms with kettles, fridges, and a space to be near Emer.
Looking back, Mary remains deeply appreciative of the care Emer has received through the years, “You really wouldn’t believe what she’s put up with, and with so little complaint. I’m always grateful we’ve had the support of such amazing teams.”
Emer’s story is a testament not only to her resilience but also to the importance of compassionate care her and her family have experienced time and time again at CHI.
