28 Years to a Diagnosis: My Life with Undetected MASH

As a child living in the country, I had a very active and healthy childhood — good, fresh food and plenty of exercise. My nan lived with us and was a great cook; she looked after us while Mum and Dad worked.

Unfortunately, in 1976, both Mum and Dad became sick within 6 months of each other and were unable to work again. Although money was tight, we still had a well-balanced diet with plenty of fresh fruit and veg from the garden, but not too much meat.

My relationship with nutrition and caretaking

Fast forward to 1990: now married and working long hours, I must admit — and take the blame myself — that dinners were not always the healthy option they should have been. In 1992 and 1994, both my sons were born. My husband was now disabled, with both my parents being disabled as well, and I, being the carer, was the last person I cared about; everyone else came first. So for me, life just went on one day at a time.

In 2000, I changed my job. I went from working in a very physical role to working in an office, which meant a lot less activity — just sitting at a desk all day. My job can be very stressful at times, and you can get into a rut. Unfortunately, once in that mindset, it is very hard to get out of. On quiet days, snacking passed the time — again, only myself to blame. Weight went on. Obviously, my fault, or so I thought— but as I was to find out later, the fault was not all mine.

My later-in-life MASH diagnosis

In 2021, I was diagnosed with NASH (nonalcoholic steatohepatitis), also known as MASH (metabolic dysfunction-associated steatohepatitis), as it is now called. It was stage 4, and I had fibrosis and cirrhosis of the liver.

Like many people living with MASH, I was as guilty as so many others out there who believed you only get liver disease if you drink or are an alcoholic. I can honestly say that is not true, although alcohol certainly does not help.

Looking back: A pattern of missed signs and misdiagnosis

With access to our medical records now online, I decided to look into this disease further. What I found, going back over them, was very disturbing, and I'm sorry to say I feel very let down by my GP.

In 1993, I had mentioned to my GP that I had started to get a bad discoloration of the skin. My neck looked dirty, which was embarrassing because it made it seem like I hadn't washed. My armpits and groin had also turned very dark. As I later found out, this is known as acanthosis nigricans and is a recognized symptom of liver disease and insulin resistance, both of which are closely linked to MASH. My GP, however, said it was due to being pregnant.

In 2002, I went to the GP again because my leg had become swollen, and — as everyone who is overweight knows — the answer was: You’re obese; lose weight. Here’s 12 weeks free at Weight Watchers. Again, when looking this up later, this was another symptom consistent with fatty liver disease and the wider pattern of misdiagnosis that I was experiencing.

Concerning test results with no follow-up

In 2008, my records showed that a blood test had revealed elevated liver function enzyme levels, and again, this was not followed up on.

In 2013, I had been having a swelling in my stomach; it would go as hard as a rock and be very uncomfortable. The GP sent me for a scan, which showed I had a fatty liver, an enlarged spleen, and multiple gallstones. Again, there was no follow-up, so life just went on.

In 2019, on Christmas Eve of all days, I was told I had type 2 diabetes — not the best Christmas ever. Now, given that more than half of adults with type 2 diabetes are estimated to have hepatic steatosis, you would have thought that would have been a red flag for further investigation.¹ But no.

At the end of 2020, I was sent for another scan of my stomach. Going back to get the results from the GP was like deja vu. I was told again — fatty liver, enlarged spleen, and multiple gallstones. Looking back, he confirmed, “Yes, you had that in 2013.”

Finally getting answers and seeking clinical trials

This pattern — spanning nearly 3 decades — is a stark example of the misdiagnoses that so many MASH patients experience. The individual symptoms were noted but never connected, and the underlying condition was never named until it had reached an advanced stage.

I had an appointment at Lewisham Hospital in 2021 for a fibroscan, which showed the numbers were high. Thankfully, the doctor I saw knew Dr. Saima, and I was referred to her at King’s College Hospital. I now had a confirmed diagnosis.

I was seen within a week by the trials department to determine whether a trial would be available to me. I went through all the screening: blood tests, a biopsy, and an endoscopy, and I was lucky enough to qualify for a trial. I say lucky because not everyone does, as I have recently found out myself.

My trial was a 3-year trial, going to the hospital for an infusion every 2 weeks. It certainly opened my eyes to the number of people living with liver disease and all the different types.

How patient advocacy helped me find my voice

I joined the Liv-Fit group set up by Dr. Saima, and in June 2024, I was privileged to be asked to attend the EASL Congress in Milan. In September of that year, I was invited by GLI to go to Washington to become a patient advocate and ambassador.

Being referred to Dr. Saima was the best thing that could have happened to me. I felt so lucky to be on the trial and to be seen so regularly.

Reflecting on my MASH misdiagnosis

I do sometimes get angry and bitter that in 2013, my scan wasn’t followed up on, as at that stage I might have been able to reverse the disease. The misdiagnosis of MASH — or simply the failure to connect the dots — costs years of potential treatment. But I can’t change that now.

What I will say is this: after 28 years — which it should never have taken — I finally have a proper diagnosis of MASH. I now have the right doctor who has helped me, and I can’t thank her enough.

If you are living with MASH or suspect you may have undiagnosed liver disease, please advocate for yourself. Push for the follow-up tests. Ask the questions. Know the symptoms. You deserve answers.