19 years later I got my diagnosis

The story of Laura

I have Bile Acid Malabsorption – a rare disease that affects the digestive tract, predominantly the intestines.

My symptoms started at 11 years old, I suddenly had severe abdominal pains, frequent urgent diarrhoea and fatigue. I saw my GP and eventually a specialist who diagnosed me with IBS. I was placed on an exclusion diet to help my symptoms, but of course that didn’t work.

I lived my teens and twenties progressively getting worse, using the toilet up to 20 times per day. It was exhausting, embarrassing and debilitating. I didn’t get to have a normal life, because the anxiety my condition caused was crippling. 

I watched my friends go off to uni and get great new jobs, only for me to stay at home and become self employed as it was easier than explaining to a boss why I was unwell.

I saw around 5 gastroenterologists between the ages of 16 and 29, all whom diagnosed me with IBS. One evening I went to A&E because the pain I was in was crippling, and I was desperate. The doctor took one look at my distended stomach and my pained face and told me, this was not IBS.

I almost cried I was so happy. He referred me to another gastroenterologist after I told him my GP had refused to refer me. When I went to see the specialist doctor, she said she would give me a Sehcat scan, which is the diagnostic test for Bile Acid Malabsorption. She noted that this was just to rule it out as she was sure it was IBS. 

I went for the test a few weeks later, the test is taken over two weeks so I had to go back twice. I was told to call the hospital within 3 weeks for results which I did.

I was made an emergency appointment the following day at the hospital with a gastroenterologist. I was diagnosed with severe Bile Acid Malabsorption with an absorption rate of 3%. (Anything above 15% is someone without BAM)

I was relieved of course, but more angry! I had wasted 19 years of my life because every specialist and GP failed to spot the signs of Bile Acid Malabsorption.

I constantly had low Vitamin D and Vitamin B12 which are classic signs, along with frequent diarrhoea. I had fatigue, muscle cramps, excess gas, rashes, skin conditions. All of these are linked and part and parcel of this disease. 

Although I am now grateful for my diagnosis and my medication, it is certainly not a quick fix and I still feel robbed of my young life.

However I am trying to turn that around. I recently won a plus size beauty pageant, and my title is Ms International Curve 2019/20. I am using my title to promote invisible disability and invisible illness. We need to shout about this as loud as we can to see a change in society, and our community. 

This is why we need days like Rare Disease Day to highlight conditions like this, to prevent anyone else going through the same experience we had.