Noah’s Patient Story – Great Irish Bake

Noah was born a happy, healthy baby in October 2018.  At about two months old, His mum Tracy had noticed that he wasn’t gaining weight as well as he had been, never settled after a feed, and was often sick. Sensing something wasn’t quite right, Tracy took Noah to the GP in Cork. Tracy was told that Noah had a chest infection, and he was put on antibiotics. Still feeling that something was off, Tracy went back to the GP the following week. She was shocked to find that Noah had lost 1.2kg in the seven days, and was almost back to his birth weight. They were sent to the paediatric assessment unit in Cork University Hospital where a series of tests began. After 11 days, Noah was transferred to St Brigid’s Ward in Temple Street.

When thinking back to their first day at Temple Street, Tracy said “I can’t explain how terrified I was going in that first day. I was trying to reassure my husband and everyone else that we would go in, they’d figure out what was wrong and everything would be fine but deep down I was in bits. All the staff in Brigid’s are really like a little family and only for them, I’m not sure how we would have gotten through the coming months.”

After 7 weeks Noah’s health was becoming progressively worse. Maintaining weight became a daily struggle, with every ounce of weight gain being celebrated.  Tracy said “So many days when more and more tests were coming back negative and bloods were being done almost hourly morning and night, I thought I couldn’t keep going and the nurses and all the staff kept me going, from making me eat, to keeping me company, minding Noah so I could grab a shower or just even acknowledging how awful the situation was, and allowing me the space to try and speak about some of what we were going through.”

Tracy struggled with being away from her daughters and husband at such a traumatic time. Managing the care of the girls while her husband was at work was tough, as well as having to keep a brave face for her family. Tracy recalled “I didn’t want to leave Noah so I slept on a chair in his room every night. We stopped counting after 100 nights in hospital.”

 

A day that really stood out for Tracy and her family was the day they finally received a diagnosis for Noah. From the start it was known he was being investigated for a mitochondrial disease, which carried life threatening implications. There are over 500 different types of mitochondrial disease, all except two which get progressively worse overtime. While Noah’s blood samples were sent to labs all over, Tracy had read up about one form of mitochondrial disease known as TRMU. Noah’s symptoms were similar to those described in TRMU. Two thirds of patients with it had gotten better with time, and had gone on to make a full recovery. Without wanting any lingering false hope for Tracy, Dr Hughes had asked for it to be tested. On the 28th of February, World Rare Disease Day, Noah was the 24th person in the world to be diagnosed with TRMU, a rare disease with 16 survivors to date, with Noah soon becoming the 17th.

Noah now attends Cork University Hospital regularly, and attends Temple Street every few months. Noah’s journey continues with physio, speech and language therapy, on top of all his medical appointments.

“We were so delighted to pop in recently just for a visit and to thank everyone again for everything they have done for us. You have literally given us our life back. Noah is the absolute joy of our lives, he is the sweetest most loving little baby, full of mischief and smiles and never far from bursting out laughing. What we would have done without him, I don’t know, and the fact he is still here is 100% down to the amazing staff and doctors in Temple Street.

 

Noah’s Mum Tracy has written a beautiful note to those who are taking part in this years Great Irish Bake, which can be read here