The story of Soniya
My name is Soniya and when I was around 5 years old, I was diagnosed with an ultra-rare disease called Familial Chylomicronaemia Syndrome (FCS). FCS is a genetic disorder that affects around 1 to 2 in a million.
People with FCS have difficulty properly metabolising or absorbing fat. This is because they lack, or have limited amounts of the enzyme lipoprotein lipase, or the amount they do have doesn’t work. Because of this ultra-rare condition, I’ve had to be on extremely low fat diet all my life. I am only able to eat up to 10g of fat per day (this is equivalent to 1/3 of an avocado or 3 and a half walnuts. I was told by my consultant that I can have up 20g of fat but whenever I’ve gone over 10g, I’ve ended up getting pancreatitis.
One of the biggest complications I’ve lived with all my life is pancreatitis due to high lipids caused by FCS. I have genuinely lost count of the amount of times I’ve suffered from pancreatitis, both in and out of hospital (definitely well over a hundred). Pancreatitis can be life-threatening and causes long term damage to the pancreas and further health issues such as diabetes.
I was told having children may not be an option for me as it’s too much of a risk and there was very little information on FCS and pregnancy. I always thought I’d never have children but I am now 34 years old and I have not 1 but 2 miracle babies. Bringing them into this world was by far the hardest challenges I’ve ever faced. I had treatment called Plasma Exchange 3-4 times a week (then daily, nearer to the end) during both pregnancies. After the 1st trimester I had to be back on my regular medication to avoid pancreatitis during pregnancy. I didn’t know whether this was safe or not but the scary thing was…nor did my consultant and doctors.
Not all women with FCS have had successful pregnancies so I am forever grateful for all the help and support I had during this time.
FCS is an invisible illness and just because I don’t look ill, I feel that it’s never been taken seriously by anyone (including school teachers, past employers, friends and family), which is why I am using my social media platforms to raise awareness, advocate, educate and help others (through my experiences) to accept and cope with rare diseases and other invisible illnesses.