Get your raffle on! 

Tuberous Sclerosis Complex (TSC) awareness month is upon us and so Hugo and his friends, Theo and Freya, are running a children’s toy raffle full of all their favourite things. All money raised will go to the Tuberous Sclerosis Association, so please see my Facebook post for details on how to enter. 

However, if children’s toys are not your thing, we have set up this go fund me page to collect donations and share Hugo’s story.

What is TSC?

TSC is a genetic disorder that causes benign tumours to form in vital organs. It affects around 1million people world wide and roughly 8000 people in the UK.  There is no cure for TSC but with research treatments can improve. Common problems from TSC can include epilepsy, autism, learning difficulties and kidney problems. However, the way that TSC impacts on a person’s life can vary considerably. 

Hugo’s Story

Hugo was preliminary diagnosed during my third trimester, when a routine growth scan found an abnormality on his heart. This lead to many more scans and an MRI of Hugo (in the womb) confirming benign tumours in his heart and brain. 

When Hugo arrived he had his diagnosis confirmed through a blood test, which found a mutation in one of his genes. Before this we had never heard of TSC, Hugo’s mutation was spontaneous and not passed on from myself or Dave. 

This time last year Hugo was 8 months old and despite a scare or two was doing well. Over the past year Hugo’s had many challenges. The main one being the growths in his brain causing him to have epilepsy. Despite taking two medications his seizures are difficult to control and so in December the process of possible brain surgery to help with seizure control started. So on May the 4th, we are having a few nights stay at Great Ormond Street Hospital to undergo some eligibility tests.

This process brought to light that Hugo has a SEGA (a different type of benign brain tumour associated with TSC) for now this is not causing Hugo any issues and so will just be monitored. 

Hugo’s other main challenge has been his development regression. Up until late November he was developing well and saying lots of new words. Since then Hugo’s lost his: speech, non verbal communication, ability to clap or point and does not answer his name. However, with speech and language therapy starting this month, the odd word emerging and pointing and clapping making a reappearance we remain hopeful. 

Hugo has also developed his first skin growth common in TSC. This is a very small spot on his nose and although we are concerned about more developing and the impact on his body image, these growths are harmless. 

In spite of these challenges we have many positives to report. The tumours on Hugo’s heart have shrunk and are highly unlikely to ever cause a problem. His kidneys and eyes have been checked and remain clear and most importantly he is a happy little boy, obsessed with cars, farms, bubbles and Peppa Pig 🤣🥰

Thank you all for taking the time to read, donate and share Hugo’s story x