I’ve had 27 surgeries in 27 years……and counting

Sheela tells her story of living with a rare disease

Sheela Rajkumar has a very rare condition called von Hippel-Lindau syndrome. Also known as VHL, it is largely a hereditary condition that causes both cancerous and non-cancerous tumours and cysts to develop in up to ten places throughout the body.

There’s no such thing as a “typical” VHL patient. Everyone is affected very differently and has a unique range of issues which makes it extra hard for doctors to treat them.

Sheela had never heard of VHL until she was 21, when she started having issues with one of her eyes. Many VHL patients will develop tumours in their eyes, but Sheela didn’t know that there was VHL in her family, so initially it didn’t raise any alarm bells.

Fast forward 27 years and Sheela has had 27 operations, due to tumours and cysts in her brain, spine and kidneys, tumours in her eyes as well as retinal detachment & glaucoma, and cysts in her pancreas. Genetic testing confirmed that she had VHL, as does her Mum and sister, several cousins and aunts.

“She handled the first 15 or so surgeries quite well,” says her partner Mark, “but there comes a time when your body just can’t cope anymore, added to which it becomes harder for surgeons to operate in the same location due to the risk of scar tissue failure.”

Sheela now requires daily care and Mark had to quit his full-time job to look after her. Because it’s a rare condition, there are only a few consultants who can be expected to understand the disease. When Sheela moved from Essex to the Midlands they decided to stay with her London-based consultants meaning she now has a 240-mile round-trip journey for every appointment or scan.

In an average year, she has more than two planned hospital appointments a month for scans and consultations- that’s more than 20 each year.

“It might appear that an obvious solution would be to co-ordinate Sheela’s appointments to reduce the number of visits”, says Mark. “We’ve tried that, but it simply cannot work as Sheela can only physically cope with one scan, or one appointment a day, due to her symptoms from both tumour location and side effects of surgeries and radiotherapy which severely impact her ability to move and cope with external movement. In consequence, we have to book two nights hotel accommodation as near as possible to each hospital for every scan etc, so she can recover after the journey to be ready for the scan or appointment. Naturally, we adopt as many virtual appointments as possible, to limit the need for Sheela to travel. We’ve however found ourselves in a very expensive situation!”

One of Sheela’s tumours is currently blocking one of the ventricles in her brain which severely impacts her balance and movement. Thankfully Mark is on hand to help her, but he is mindful that other VHL patients might not be so fortunate.

“I manage all of Sheela’s medication, monitor her symptoms, and do daily physical and neurological physiotherapy with her. I’m also the official researcher in our house; reading specialist medical journals and learning more every day about VHL. Every time we leave the house, I bring with me a detailed record of her medical notes, history of her surgeries and information about where her head can and can’t be touched due to various medical implants and the like. I need to be at every NHS appointment to make sure the doctors and nurses know the latest developments in her condition.”

A low point for Mark and Sheela was when she developed hydrocephalus which is a build-up of fluid on the brain. The swelling can be a side-effect of both radiotherapy and is also a symptom of the location of the tumour itself; and it left Sheela living in her lounge on a hospital bed for three months unable to sit up, lie down, or feed herself. Mark worked out that he needed to keep her head between a 30-to-70-degree angle and to limit all movement to prevent violent vomiting. He slept on the sofa next to her. Sheela slept for 18 hours a day so Mark couldn’t risk missing any window of opportunity to give her food and medication.

Getting to hospital for an urgent operation posed a new challenge, as Sheela could not physically make the journey by ambulance. Mark needed to get her to London for surgery to insert a permanent drain (known as a VP shunt) which relieves the pressure caused by the inability to naturally drain all the fluid which normally bathes the brain in nutrients. Bearing in mind the need to keep her head between a 30- and 70-degree angle, he spent hours plotting a route in his car that would only involve just eight turns of the steering wheel to get the 120 miles from home to hospital for surgery. They travelled at night, and thankfully it was during lockdown so traffic was lighter, and prayed they wouldn’t hit a pothole!

“I got her to the hospital which felt like a mini miracle. But then she was in hospital for a month. As it was during lockdown, I obviously couldn’t visit her. Instead, I left food parcels for her everyday so that she would feel a connection to the outside world.”

Although Sheela is back in her own bed, the future is uncertain.

The couple are awaiting a decision from NICE about a new medication that could stop, or significantly slow down the speed that Sheela’s tumours grow. It’s been proven to reverse tumour growth in some people. It’s already licensed in the US and Scotland but it’s not yet available here in England.

“We spend much of our time waiting. Waiting for new treatment, but also waiting for the next tumour to emerge, or for a tumour that has been inactive to suddenly become active again. Life with VHL is unpredictable and right now there is no solution.”

Von Hippel-Lindau disease is a rare condition caused by changes in the VHL gene. Although serious, if diagnosed early patients will benefit from regular screening which enables doctors to spot and treat the cysts and tumours. However even with continuous surveillance, a small number of patients, like Sheela, can have tumours which cause severe problems or may be inoperable.

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