Hi, my name is Ashley Gould, I am 37-year-old female from Perth WA. I was diagnosed with Von Hippel-Lindau Syndrome (VHL) in 2016, I am classified as de novo or a mosaic as I am the first in my line having VHL, both of my parents have been tested and neither have the mutation in the Chromosome 3p25.3. I have passed VHL on to my daughter Scarlett (11F) and have two other girls that do not have VHL. This is my story of being diagnosed with VHL, learning about VHL, my daughter’s diagnosis and the challenges I have faced.
Around 15 years of age in 2000, I became aware of some hearing loss in my right ear, I had a CT test which didn’t show any sign of tumour. I was told It was unknown nerve damage this was never really investigated until around 2014 when I started the process of having a cochlear implant fitted. I had completed nearly a year of testing and reviewing to have the cochlear implant fitted, the last step was for an MRI to investigate the bone structure in my right ear to see if it was suitable for the implant. I attended the appointment with the expectation that I would be told if yes or no that I was suitable for the implant. The doctor unfortunately had not read the MRI report prior to my appointment, while in the appointment the doctor read the report and all I remember from him was hearing a few words such as “malignant” and “tumour” I was shocked and in utter disbelief. The doctor then left the room to compose himself, he came back and explained that I had what looked like an endo lymphatic sac tumour behind my right ear. I was scheduled for biopsy surgery in early 2015, and ass you can imagine this left me with severe depression and very aware of my mortality. During the follow up appointments prior to surgery the doctor seemed to be changing his approach every time I went in, I found this very unsettling as I felt I was a guinea pig, and he was unsure how to remove the tumour. I got a second opinion, and he removed it.
While having the tumour removed was a huge relief, I was left with issues arising from the surgery. While operating they drilled through the balance nerve and it was damaged, they have not said if they could have recovered my hearing if they hadn’t drilled into my ear where they had, this has left me at times quite unstable, I quite often bump into the people walking with me and have trouble walking a straight line. I also suffer from quite severe bouts of vertigo and am bed ridden due to the feelings of dizziness and nausea, I need to keep Ondansetron on hand for these.
Following the discovery of the tumour behind my right ear I commenced testing for VHL as the type of tumour was directly linked to VHL. It took roughly 3 months to complete all the screening and testing and to get my diagnosis. Once I was diagnosed testing was commenced on my immediate family including my two daughters and it was found that it was established that I was a mosaic, being the first in my line to be diagnosed with VHL also my youngest at the time Scarlett was diagnosed with VHL. The diagnosis for Scarlett left me with a lot of guilt knowing that I had passed VHL on to her. I was referred to the Fiona Stanley Hospital in Perth to undergo screening and monitoring for other tumour’s associated with VHL, one of the challenges I found was that due to the nature of VHL being in various parts of the body there was not one doctor who would look at VHL as the disease I was shuffled around from clinic to clinic as they only focused on the area of the tumour, this meant having double up tests and MRI’s, quite often unnecessarily. This also meant being discharged from clinics like ENT and Eye clinic due to them not understanding screening requirement leaving me to go back to me GP to sort out.
With Scarlett being diagnosed with VHL she was referred to the Perth Childrens Hospital and came under the care of the *Rare Care Centre, this was a fantastic opportunity as all her medical disciplines were in the one place facilitated by one nurse. This team regularly meet to discuss issues and progress of the patients under their care.
*Rare Care Centre (Rare Care Centre (PCH), 2022)
Rare Care – the Clinical Centre of Expertise for Rare and Undiagnosed Diseases (Rare Care Centre) aspires to ensure children with rare and undiagnosed diseases (RUD) and their families, live their best lives possible. The Rare Care clinical service provides holistic care and support through a dedicated statewide cross sector care coordination service for children and adolescents with a rare or undiagnosed disease. The clinical service is complemented by innovative digital solutions, education and workforce capacity building initiatives, family support programs, new clinical research infrastructure, global professional networks, and advocacy locally, nationally and internationally.
In 2016 I was found to have several lesions on my pancreas, these were investigated, and I was diagnosed with neuroendocrine cancer. This came as quite a shock only having had the tumour removed from my right ear 12 months earlier. With the lesion being at the head/neck of my pancreas my only option presented for treatment was surgery and I was scheduled in for a Whipple’s Procedure. I had very little information on what a Whipple’s procedure was or the long term impact this procedure would have on my life and health. I was told prior to the surgery that it was like open heart surgery and would take around 10 hours, I was in surgery for over 11 hours and spent the next couple of days in intensive care. During the surgery they removed the head of my pancreas and re-attached the bile duct. After the surgery I was prescribed Creon a pancreatic enzyme and told, I would only have to take it for roughly 6 months, how wrong that was! More on that shortly.
My recovery was slow, and several issues presented in how my diet would need to adapt post-surgery. The surgery was very similar to the c section surgery I’ve had for my children, quite invasive and slow to recover. I commenced taking Creon as now part of my diet, very little was explained to me how crucial timing was in taking Creon. I was told to take the Creon daily like it would stay in my system like pain killers. Over the next couple of years, I suffered severe abdominal pain along with other symptoms. Due to the constant pain and discomfort my partner did some research on how Creon should be taken and what dosage. We found the dosage set by the hospital was inadequate and the timing needed to be before meals not at any time. I was being prescribed two 25,000 lipase unit tablets a day, after reviewing my symptoms and issues we found I needed to take two 25,000 lipase unit tablets a meal, 180 tablets a month. This has alleviated quite a few of my abdominal issues.
In 2019 Scarlett had her usual round of screening tests including MRI’s and blood tests, it was found that she has a thickening at the head of the pancreas while this is attributed solely to VHL sufferers it does raise some concerns. Scarlett as she gets older and sees me being admitted to hospital is becoming more aware of what affect VHL will have on her health and well-being in the future. Due to the screening process, they have identified quite a lot of cysts in her pancreas, this will help us get a diagnosis and treatment before any cysts metastasize into tumour’s.
In late 2019 I found out I was pregnant with my third daughter Harper; I was advised by a couple of doctors that pregnancy was not advisable, and I would be high risk. The pregnancy went well and to plan and Harper was born full term in February 2020 by C section. We immediately had Harper tested for VHL and she was found not to have it.
In mid-2023 after a routine scan I was found to have two lesions on my right kidney, due to VHL they are being treated as Renal Cell Carcinoma and I am scheduled for a biopsy in October. Which will then lead to radiotherapy or welireg/belzutifan, I have been told the latter will be around a $12,000.00 a month out of pocket expense.
The most frustrating part for an adult is that unlike Perth Childrens Hospital is that there is no one that deals with VHL, not so much treating it but coordinating/liaising with all the various departments required for blood tests, MRI’s, CT scans etc.
