Towards the end of October 2019, I was diagnosed with having a hemangioblastoma (a tumour that grows in the blood vessels of your brain.) Options for treatment to cure at that time, was surgery, however this came with potential risks and complications, one being the need for Rehab, to learn to walk and talk again. I underwent successful surgery at Queen’s Hospital in November 2019, where thankfully it did not come to this.
All things considered, the physical recovery was quite quick, but the lasting mental trauma would take its toll, especially with Covid-19 restrictions and lockdowns during this time.
Having survived all that, I was no longer fearful of pregnancy, and felt that now was the right time to have a baby. I fell pregnant early January 2021 and gave birth to my son via an emergency c-section at Colchester General Hospital on the 8th of September 2021.
During my first pregnancy and at an already difficult time, I received news that I had tested positive for von hippel-lindau syndrome, a rare, inherited disorder that affects 1 in 36,000 people, causing tumours and cysts to grow in certain parts of the body.
VHL patients have a 50% or 1 in 2 chance of passing the genetic mutation on to their children.
Unfortunately, this diagnosis was confirmed towards the end of my pregnancy and so my son could not receive adequate testing until he was born, after which followed a very guilty and very anxious 12/13-week wait for results.
We eventually received news from GOSH, that my son had not inherited the mutated gene; he did not test positive for VHL. My whole family underwent testing and luckily also avoided the mutation.
I am among 10% of people with VHL who do not have any family history of the condition. I have a de novo mutation, meaning a new mutation in the VHL gene that does not present in my parents.
As part of my surveillance, I must attend routinely appointments and specialist clinics at various London Hospitals, coordinated by St Bartholomew’s Hospital, and have undergone several operations/ procedures; all to cure.
At my latest Hospital appointment in March of this year, my scan results confirmed that I do have multiple cysts, as well as an endolymphatic sac & neuroendocrine tumour. Thankfully these tumours remain benign with little change since my earlier appointment in September 2022.
Professionals have advised that although the results are good at present, it is likely that I will have to have further surgeries, including radiotherapy at various points in my life.
This is still an early diagnosis; one I am trying to comprehend and factor into my life. At times it can be very lonely, with uncertainty and little reassurance – mostly because of its rarity and lack of recognition.
Following my latest success, and with the support of my friends and family, I have decided to run The Clacton Half Marathon & 10K; hoping to bring awareness for those affected by von hippel-lindau syndrome, whilst raising money to fund vital, lifesaving research.
Plus, I could do with the exercise!
You can find out more about VHL on the charity website
Fundraising team (5)
This team raised £1,008 from 67 other donations.