Hugo is the dear little boy born with the genetic condition Vascular Ehlers Danlos Syndrome. This year, I am attempting a full Ironman (2.4 mile swim, 112 mile cycle, 26 mile run) to raise funds and awareness of this life limiting condition. Here are a few words from Hugo's mum about living with a little boy with
"Our dear little boy Hugo was diagnosed with Vascular Ehlers-Danlos syndrome, in December 2013, when he was only just 2 and it has turned our life upside down. He was probably the youngest in the country at that time to be diagnosed, following problems, including a perforated bowel, since birth. Of all the types of EDS, it is the most serious as it is associated with a risk of sudden death due to major blood vessel or organ rupture at any age.
Vascular Ehlers-Danlos Syndrome (VEDS) is a genetic condition caused by an alteration, also known as a mutation, in a gene called COL3A1. This gene is the instruction for making collagen type III. When this gene is altered it causes a lack or deficiency of this collagen. This leads to disordered packing of collagen fibres making the connective tissue less effective, particularly in blood vessels, hollow organs and the skin.
We have already seen how the disorder has manifested itself with Hugo as he was diagnosed with a perforated bowel shortly after birth. He was operated on at just a week old to rectify that problem and all before we knew he had VEDS - looking back now none of us could have realised the enormity of the situation when he was taken to Great Ormond Street Hospital and how lucky we were to have a positive outcome from surgery. We have since been told surgery is to be avoided at all costs and only in the event of a life threatening situation as rupturing of further vessels can cause death
It is a rare condition and therefore many health professionals will not have seen someone with this diagnosis. Vascular EDS was previously known as EDS type 4. We have been told there might just be 200 cases in the country but that there are potentially more but it is either being misdiagnosed or not diagnosed properly because people are unaware of it.
More and more we have started to see the impact this is having on Hugo’s daily routine and how careful we have to be with him, but whilst still letting him have his own independence. We want him to lead a normal healthy and active life like any 3 year old. He wants to run around and play like all his friends, which also means that he may have the odd knock and fall. However Hugo doesn’t knock and fall like other children and the simplest fall can often lead to A&E (as happened again just 2 weeks ago) as his skin is so fragile, that it tears and damages so easily... and that's just on the outside. It is an unknown for us and our dear Hugo is almost like a 'ticking time bomb'. We don't know what the future holds for him but at least with an early diagnosis we can direct his lifestyle in such a way that he can avoid certain situations that could be dangerous.
Our wonderful friends Kim and Ali are doing a tremendous thing to highlight this cause and if you can support them it would be wonderful. I am also exceptionally grateful to Kim for identifying certain things and highlighting EDS to me early on with Hugo, otherwise we might not have a diagnosis now. Unbelievably, she had come across it before through her work and after researching, thought Hugo might have a form of it. Even though other health professionals I had spoken to up until then had glossed over it!
Thank you so much Kim and Ali,
Love from Tori, Rob, Hugo and Felix"