Rori has a heart of gold. He has a beautiful, sweet nature and he loves the world around him. Rori loves playing with toys that have buttons, texture or play music. His favorite things at the moment are balloons, sand, water or bubbles. He loves to watch balloons go up and down! He is very caring and will cuddle teddies or baby dolls, he will even try to feed them or give them his drink. When he was younger, he even took out his pacifier from his mouth to give to another baby that was crying! Rori loves to make people laugh, he will try to get their attention by throwing toys or by pulling his socks off! He loves being tickled by his brother Harri and he will often look for him. Rori loves to be outside, we often go on walks to explore nature or feed the ducks. Rori will wave to animals or people he meets, he has the sweetest wave!

Rori’s TFE3 Journey

Rori is a 3 year old, loving little boy from Wales in the UK. He has a warm, sweet personality and is incredibly social. He loves to interact with the world around him in his own little way, enjoying sensory experiences and engaging with others through smiles & laughter.

Our first indication that something was different with Rori was the grueling feeding issues he faced as a newborn. He would cough & splutter with every feed, and soon after he experienced reoccurring chest infections. The reoccurring chest infections became a constant battle and Rori was put on long term antibiotics and inhalers to combat them. As Rori has grown older, his feeding and infections have thankfully improved, but he still faces some challenges which we manage.

Rori missed his milestones and was becoming more obviously delayed as he grew older. Due to his hypotonia and hyper-mobility he would often fall backwards when he sat up and we made sure he had cushions around him at all times. We noticed very early on that his gait appeared somewhat abnormal and uncoordinated. With an adult support he can stand strong & firmly on the ground, weight bearing, but his knees will often hyperextend, buckle or he will become fatigued. He would roll around everywhere to get around until he was around 2.5 years old, he then started bottom shuffling to get about – now he bottom shuffles with speed!

Rori has suffered with gastrointestinal issues since he was a few months old and is on medication to help manage his troubling symptoms – specifically reflux and constipation. He also gets sudden and challenging crying spells which usually are the result of trapped gas. Often this can be in the evening time and this is a current battle we are facing. Communication tends to be even harder in these moments.

Rori is non-verbal but can definitely let people know how he feels by the sounds and noises he makes! When Rori was younger, he would attempt to say ‘mama’ & ‘dada’ (not in context) but this soon disappeared. In recent months, he has started to use his finger to point at the things he wants around him, but this can be inconsistent. We have introduced picture cards and an AAC device to support his communication, however we are at the start of his language journey.

Rori receives a range of therapies through the NHS such as physiotherapy, speech therapy and hydrotherapy. However we also access these therapies privately to further support his development. At present we are hoping Rori will be able to attend a local specialist school September 2026 to help him thrive and reach his potential – early intervention is everything!

Rori had his TFE3 diagnosis when he was 2.5 years old and he has somatic mosaicism. Rori’s diagnosis was found through Whole Gene Sequence testing, and he is the only child diagnosed in Wales at present. Up until his genetic diagnosis, Rori was diagnosed with significant global developmental delay. When Rori received his TFE3 diagnosis, we felt relieved to have answers but also frightened about the unknown. Following a Google search, I found the TFE3 foundation and reached out to connect with others – and I am so grateful I did!

Thank you for reading,
Lauren (Rori’s mother)Rori