Soniya Vadher-Patel runs her own business as a fitness trainer and sports nutritionist. She lives in West Sussex, England, with her husband and two young children. She talks to RARE Revolution about how a lack of knowledge and understanding about her condition has shaped her life decisions and about the challenges she has faced in the world of employment, dealing with the health issues imposed by familial chylomicronaemia syndrome (FCS)

By Emma Bishop

Growing up with FCS

When Soniya was just a year old, she had a fatty deposit removed from her back-the first symptom of her rare disease. Soniya would go on to suffer with painful stomach aches and when she was around four years old she received a diagnosis of FCS.

Soniya says that as a child she didn’t fully understand the condition and why she couldn’t eat the same things as her siblings and cousins, which was really difficult. It meant that food was a real struggle for her from an early age. When attending check-up appointments, Soniya says the hospital just checked her triglyceride levels and told her to keep eating a low-fat diet, providing no further guidance. Such a restrictive diet is challenging enough to maintain when armed with all the facts but is made all the more confusing without an understanding of the rationale behind it.

School life was hard for Soniya as she had to constantly explain her condition. She was also absent a lot throughout primary and secondary school due to illness, usually taking two weeks to recover from pancreatitis. 

“I missed out on a lot and catching up with schoolwork was really tough”

Soniya’s immediate family were supportive, and her mother would cook separate meals for her every day. “Being from an Indian family, our cuisine is not the most healthy or low-fat!” Her mum then decided to cook the same for the family and now they all eat healthily as a matter of course.

Familial chylomicronaemia syndrome
People with familial chylomicronaemia syndrome have difficulty properly metabolising, or absorbing fat. This is because they lack, or have limited amounts of the enzyme lipoprotein lipase, or what enzyme they do have doesn’t work.
When they eat fat, it travels around in the blood as triglycerides. These clump together as chylomicrons, causing the many symptoms and the milky-white appearance of the blood that is typical of the condition.
Source: actionfcs.org/about-fcs/the-facts-about-fcs

Managing FCS with a new-found independence

Having maintained a healthy, low-fat diet at home, when Soniya went to university, she acknowledges she went off the rails a little when the responsibility for her diet fell solely to her. The nature of her course, studying film and television, meant she often finished filming late, and so fatigue-combined with limited food choices being open at that time, she would often order a pizza with friends, and that quickly became the norm.

In her second and third year she became very unwell due to poor diet and would often end up in hospital, which interfered with her studies.

Soniya says that as she has got older it has been easier in some ways to cope with her condition, undoubtedly through her increased knowledge of FCS, but she finds the lack of understanding from others one of the biggest frustrations of the disease.

“No matter how much you explain it, people will never fully understand”.

It is an invisible disease and because she is really slim and looks healthy people assume she is well. She says they either think she is obsessed with her weight and eating healthily, or that she has an eating disorder. It can be exhausting having to deal with constant misapprehensions and explain herself and her condition.

She says that finding the charity Action FCS just over a year ago has made such a difference to her life. She has joined a community who completely understands what she goes through each day and offers support, and she has learnt more about her condition than ever before.

Soniya recognises that her health is getting worse as she gets older, as so much damage has been done to her pancreas. If she pushes the boundaries now, she will suffer the next day. She has been told that she shouldn’t be having more than 10 grams of fat per day, which is equivalent to just over a tablespoon of olive oil or about three-quarters of an avocado. 

“It’s very challenging as sometimes it’s impossible to track ‘hidden fats’ in food, for example, when eating out. Even if I get them to make it really low-fat, you never know how much fat is actually in there.”

She was hospitalised three times during lockdown for the COVID-19 pandemic, which was a very scary experience for her and her young family, and she keenly feels the added pressure of being classed as high-risk during these uncertain times.

Family planning with FCS

Soniya was always told that any pregnancies would need to be carefully planned, and when she found out she was pregnant with her son, now seven, she notes it was a scary time and mentally very draining.

Soniya had to travel almost two hours to Hammersmith Hospital in London where she had access to a specialist lipid professor. Even then, the team were not experienced in treating a pregnant woman with FCS. 

The first pregnancy was an incredibly daunting time for Soniya: rather than receiving reassurance from the doctors, she was met with uncertainty. The doctors weren’t sure of the best course of action and experimented with different treatment options. They tried a treatment called apheresis, first to try to bring her triglyceride levels down.

“You rely on and trust what the doctors say, and when they admit they’re not 100% sure as it’s such a rare case, that is really scary”

When this didn’t work as well as they had hoped, they then tried plasmapheresis. For this treatment Soniya needed to have a permanent central line put in, as the plan was to have the treatment throughout the entire pregnancy.

Apheresis is a procedure where blood is removed, one component is separated and removed, and the blood is re-transfused back into the patient. Plasmapheresis or plasma exchange is a process that removes plasma from the blood and replaces it with new plasma.

The plasmapheresis worked well, bringing her triglyceride levels down to single figures, which she had never experienced before in her life, but Soniya was still told they were unsure of the risks. She was having the treatment every two to three days, but it was only taking a couple of days for her levels to shoot back up again, so by the end of the pregnancy she had to have the treatment daily.

With both of her pregnancies, she was induced a month early and gave birth at Queen Charlotte’s and Chelsea Hospital, next door to Hammersmith Hospital. She recalls how the doctors prepared her for a possible stillbirth with her first baby but was only told this right at the end of her pregnancy just before she was induced-such a distressing prospect for a new mother already experiencing an uncertain pregnancy.

Soniya felt more prepared with her second pregnancy but being such high risk made it a time of uncertainty. Soniya and her husband, Shayal, knew the risks and tried to keep open minds and prepare themselves for all possible outcomes. Shayal was tested during her first pregnancy to see if he had the faulty gene for FCS and was fortunately found not to, so their children, and any of their future children, will not inherit the condition. Soniya now has two beautiful healthy children, which she feels blessed to have.

She also feels lucky to receive continuous support from the lipid team at Hammersmith Hospital. “If it wasn’t for them, I wouldn’t have known about Action FCS, and I don’t think I would have had two successful pregnancies as my triglyceride levels were hitting 55-60+ which could have resulted in a major episode of acute pancreatitis and I could have lost both my babies.”

FCS and the world of employment

FCS has had a huge effect on Soniya’s career. After her son was born Soniya prepared to go back to work but she had difficulties holding down a job while managing her health. She recalls how often during her first week at a new job, she would have to phone in sick, and even missed the first day of a new job having been hospitalised. In one job, she had a disciplinary because of the number of sick days she had taken, and she has actually lost jobs because of this!

Her most recent employer was very understanding of her condition and very supportive during her second pregnancy when she was required to attend many hospital appointments. However, sadly for Soniya, this is the exception and certainly not the norm.

Taking back some control

Soniya has now left that job, of her own volition, and started her own fitness business. This has taken the pressure off letting down an employer but has also been an incredibly positive focus for Soniya’s life. It keeps her busy, keeps her mind active, helps her achieve her fitness goals and encourages healthy eating.

Soniya is now borderline diabetic because her pancreas is struggling to function properly and it’s getting harder the older she becomes, with increased hospitalisations. But through all this Soniya remains very upbeat and tries not to let her disease stop her from doing the things she wants to do. Rather than focus on the foods she cannot eat, she sees the positives in eating healthily.

Soniya is extremely self-motivated and by setting up her own business she is aiding both her physical and mental health and is taking back some control that a rare disease so often robs you of.

“When you’ve got a condition that’s really tough to live with, you can either just sit and feel sorry for yourself or you can think of the positives.”

This article was first published inAutumn 2020 Spotlight Edition Familial chylomicronaemia syndrome 

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