Mum knew something was wrong, but no one listened
As a new report reveals that thousands of people in the UK are suffering from poor quality of life and dying prematurely from little-known health conditions, journalist Anila Baig recounts how her mother, Safia, died from an autoimmune condition at the age of 69, after months of misdiagnosis and lack of treatment
Back in April 2015 my mother began complaining about shortness of breath. She’d always had poor circulation, feeling the cold even on a warm summer’s day.
She was a much-loved secondary school teacher in Bradford for nearly three decades – when she retired her picture was on the front of the local paper – and had a real zest for life.
Always fit and active, she had planned many trips abroad for her retirement but instead, endless visits to the GP ensued when she became unwell at 68.
Mum’s skin was itchy, she had a persistent single cough, and she had swollen glands, often feeling like she was coming down with something in the evening only to feel fine by morning. More symptoms emerged, including severe acid reflux, insomnia and hair loss. She began struggling to walk even a few steps, though she had been perfectly fine a few weeks earlier, playing badminton with her friends.
She was told it was asthma, COPD (chronic obstructive pulmonary disease) though she had never smoked in her life, a viral infection and ultimately anxiety. “Of course I am anxious!” she would exclaim. “I know there is something wrong but no one is taking me seriously.”
Little did we know at the time that she had developed a very rare autoimmune condition called scleroderma. We had never heard of it. Rare autoimmune rheumatic diseases (RAIRDs) can be split into two groups: connective tissue disorders like lupus, primary Sjogren’s syndrome and scleroderma, and systemic vasculitis like giant cell arteritis and Behcet’s disease. They cause the immune system to become overactive and attack healthy tissues, often in multiple organs, leading to tissue or organ damage which can be fatal.
There are over 170,000 people living with RAIRDs in the UK and conditions can be life-threatening, hard to diagnose and, due to a complex nature, many need specialist care.
Highlighting the “alarming disparities in the quality of care and treatment” received by people living with these conditions, the Rare Autoimmune Rheumatic Disease Alliance has recently called for more to be done to improve their quality of life and prevent them dying prematurely.
Sue Farrington, co-chair of the Alliance, says people living with these conditions are often “forgotten”. Yet early diagnosis can help patients avoid serious complications and, in some cases, premature death. Despite this, 44 per cent of RAIRD patients wait more than three years from their first symptoms to diagnosis. “We hope that the next few years will see real breakthroughs in important areas such as improving diagnosis and creating and accessing new treatments,” says Farrington.
Whatever happens, it will come too late for my mother. An echocardiogram in August 2015 showed fluid around her heart and lungs, but no one said this was serious and she was still getting on with life, albeit at a slower pace. She couldn’t take a few steps without having to sit down.
On September 29, 2015, she was blue-lighted to hospital after an appointment with her GP showed her oxygen levels were very low. Respiratory consultants suspected clots in her lungs were causing the breathlessness. She also had very high blood pressure in her lungs - a rare condition called pulmonary hypertension – which also had significant, unexplained scarring.
After two weeks she was discharged. An oxygen machine arrived and we were given a diary to track how she felt. Despite taking a long list of medication, her condition kept deteriorating.
Just after Christmas Mum was seen by a rheumatologist who finally diagnosed scleroderma, but little help was offered and she was told to wait for an appointment.
On February 11, 2016, despite the fact she was now in a wheelchair, a rheumatology consultant declared my mother was “fine”. The next morning a district nurse took one look at her oxygen levels and called an ambulance.
Mum was transferred to hospital and rushed to intensive care, but despite their best efforts she died at around 9pm. It was shocking how quickly she deteriorated.
Maybe if doctors had realised her “minor” early symptoms were part of a bigger picture, the disease would not have run rampant and we wouldn’t have lost our beautiful, vivacious, highly accomplished mother. It has been an immeasurable loss.
A few months after Mum passed, my face swelled up in the middle of the night, resulting in an emergency dash to the hospital. The doctor was stumped. “It must be mumps,” they said. It wasn’t. It was swollen lymph nodes.
I realised I’d had a plethora of seemingly unconnected symptoms, just like my mother. Joint pain had flared up once for six weeks leaving me unable to drive or walk properly. I too suffered insomnia, hair loss and frequent infections. My eyes were so dry I couldn’t wear my contact lenses and my mouth felt like the Sahara despite chugging litres of water.
Having learned so much from Mum, I asked to be referred to a rheumatologist who did a blood test showing high inflammation and confirmed Sjogren’s syndrome.
Apart from a cancer-treatment drug called methotrexate, which came with frightening side effects, I was given no other advice, yet through online communities I have learned how to control most of my symptoms.
More research is needed and medical students require training in autoimmune conditions. Doctors I’ve seen have not heard of Sjogren’s, and if my mother’s doctors had known more, perhaps she would still be alive today.
■ Suspect you have an autoimmune condition? Make a list of your symptoms and see a GP who can refer you to a rheumatologist. See more at rairda.org
‘‘ Medics need more training – many I meet haven’t even heard of Sjorgren’s