Niamh with Coartaction of the Aorta (CoA) and Left Atrial Isomerism (LAI)

Sandra Mullen describes how she felt when she was told about her daughters heart condition

I was looking forward to my fetal anomaly scan, the thought that anything could possibly be wrong never even entered my mind, but when the sonographer said she needed a colleague’s opinion I realised that something was wrong, something in her voice told me that this was serious.

Four chambers were visible but my baby’s heart appeared to be tilted the wrong way – what did that mean no-one could tell me and I was referred to a cardiologist at Guys the next day. I remember being led into another room and a counsellor coming to talk with me. I remember being offered tea but no reassurances. I remember hearing the words baby will not survive & termination the next day. Whatever else was said in that room that day I didn’t hear, I wanted to go home and recall being led out a side door I remember being cross about this, I wanted to go out the main door just like all the other mummies to be – I was already being treated differently, I was getting a taste of how life would be from here on in.

Niamh was born pink, kicking and screaming by emergency c- section at 37½ weeks, both her colour and her noise were a welcome surprise as I was told to expect a very quiet blue baby. Niamh has Heterotaxia which is a rare genetic condition thought to be caused by a missing gene – a signposting gene – a blueprint for the developing baby to follow. Niamh didn’t have a map to guide her when she was laying down all the vital connections but the proof of how wonderful she is; is evident today because despite no genetic instructions she’s here. If you’ve ever tried building a coffee table or travelling somewhere unfamiliar without directions you may begin to understand the complexity of connecting human DNA. My clever baby found her own way. With Heterotaxia some organs typically the heart, lungs, liver, stomach, bowel & spleen get put in the wrong place & this causes them to develop incorrectly.

Niamh is asplenic she was born without a spleen. She therefore has no means of fighting bacterial infections she is prone to flu’s, pneumonias, menningitis etc & more at risk from scratches, bites etc but takes a daily antibiotic which helps protect her. She had Co-arctation of the Aorta which has managed to repair itself. But is left with Left Atrial Isomerism (LAI) and an interupted inferior vena cava – the main vein carrying blood to heart stops short & so her blood has to take a detour using some veins up behind & into top of her heart. The right atrium (upper chamber) houses your pacemaker – LAI means Niamh doesn’t have a right atrium & is therefore bradycardic which may need correcting with a pacemaker when she reaches puberty or a growth spurt. Niamh’s bowel is malrotated and has an atresia – this threatened her life and left her unable to feed so was corrected by surgery when she was one day old, we were lucky in that it re-joined 1st time, she’s had a twist again since which is more likely with her due to her malroration and now requires daily laxatives. She has two right lungs and an abnormal trachea and as a result numerous chest infections & pneumonias. She suffered post operative pneumonia, a collapsed left lung & kidney failure following her atresia repair. I’ll never forget standing by & watching dr’s resuciate her at 5 days old, the tests that followed to check how much damage had been done seemed endless. Nianh required oxygen for 8 weeks was tube fed for 3 weeks but at 11 weeks old I proudly and somewhat nervously took her home from hospital.

Niamh has had many hospital admissions since her rocky start, she’s takes a concoction of medicines on a daily basis requires nebulising and chest physio to keep her lungs clear of mucus and has endured many tests. We are currently awaiting a test for Primary Ciliary Dsyskinesia (PCD) a lung condition involving the movement of cillia/fine hairs coating the lungs.

Niamh is now 6½ attends a mainstream school albeit with a fulltime carer, never ceases to amaze me with her determination her courage and her enjoyment of life. She’s learning how to play the fiddle, and goes to Irish Dancing and Singing classes.

I will forever be indebted to the medical teams who worked tirelessly to care for her, the doctors, nurses, sonographers, genetistcs etc and also to those who supported her unknowingly the blood and milk donors, lab technicians, pharamicts etc – thank you all you’ve helped to keep my miracle alive.

Wrote by Sandra Mullen (Erin on HL)
February 2010

Sandra Mullen kindly gave CHD-UK permission to publish this story and photographs