My son’s journey with Bartter Syndrome - Ellie’s story

Harry was born at 29 weeks in January 2013. He spent 63 days in Derriford NICU. He was on a ventilator for the first three days of life, which led to him having bilateral inguinal hernias which needed to be repaired in Bristol during his stay. I was unable to be with him in Bristol due to having older children to look after.

I remember visiting him on the morning he was transferred by ambulance, holding him, knowing that he was about to face surgery and that I could not be with him and would not see him for a few days. His first operation.

It was hard walking away from NICU every day - I was always so excited to see him on my arrival, but the last hour, the last minutes, the last seconds... I would feel the weight in my chest as I returned him to his cot.

That weight would get heavier as I left the High Dependency room. The walk down the corridor and through the double doors to leave the unit. The further away I walked, the heavier my legs felt. Leaving him was agony.

Harry's surgery went well and he soon returned to Derriford. The day he came home was amazing yet terrifying. I knew Harry had a journey ahead due to his Bartter Syndrome, but I kind of expected the main drama was over and that the worst was behind us.

At 18 months old Harry had his second general anaesthetic for an MRI. This was the first occasion I was with him as he went under, holding him as the cannula was put in, comforting him, entrusting my little boy to the team overseeing his care. Walking away, then the seemingly endless wait until I could be with him again.

Harry has had numerous procedures over his eleven years of life. Recently he had his seventh round of general anaesthetic. He is at the age now where he can understand what is going on and takes it all in his stride. I think he copes better than I do.

One of the procedures he had stands out. Harry was four years old at the time and facing his fourth time under general anaesthetic. I took him to the hospital and we went into a room to see the surgeon. Harry had tears in his eyes as the surgeon started to talk. His bottom lip trembled and he started crying.

As he sat on my lap, he looked up at me and made the Makaton sign for 'ready' (Harry used Makaton to communicate as he was mostly non-verbal at the time). He made the sign for ready, not because he was ready for what was coming, but because he was ready to go home. He wanted to go home.

I held him and rocked him, telling him he was going to be okay. As Harry's tears soaked my t-shirt, my tears fell onto his hair. How I wanted to hold him in my arms and take him away. He was too young to understand that he was having surgery which would improve his quality of life.

Over the years, the more Harry understands, the easier it seems for him. Whenever he has bloods taken (every few months due to a renal condition), he is incredibly forthright, telling the nurse exactly where to find a good vein!

His latest surgery was an emergency urology procedure. My husband, Harry’s stepfather, took him to Derriford Hospital A&E and within an hour he was having a general anaesthetic. He is recovering well, but his recent issues have brought back many memories from his time on NICU.

Walking through the hospital corridors, the fear of what was to come. I have lost count of the number of times Harry has been admitted to hospital over the years. Bartter Syndrome is a complex condition.

Harry took part in the 100,000 genomes project back in 2016 - we only found out in October last year that they have discovered the gene mutation in Harry which has caused Harry's Bartter Syndrome. He has a MAGED2 mutation (Transient Bartter Syndrome). This type of Bartter Syndrome usually spontaneously resolves during infancy, but with Harry, it has not.

It was a relief to finally have a label at first, but it seems to have raised more questions than answers. I do wonder how many other parents have similar experiences of life after NICU. The journey does not end there, but the journey changes and we all adapt.

These tiny warriors have to fight from the minute they are born and have many battles to get through in the coming years. And they have their army - the parents, siblings and families.

It is so important to share our stories, to know that other people have been there and understand. As Harry prepares for the next chapter of his life (those wonderful teenage years), I hope he knows that we will be with him every step of the way.