For Emma, the worst part of receiving her diagnosis with ankylosing spondylitis wasn’t adapting to the constant pain, losing her breath over five minutes of standing, being too exhausted to eat, or when she had to leave her profession in teaching because of her demanding health needs; it was when her 15-year-old daughter Sadie was not able to get out of bed one morning. Emma spoke to My London
about both her experience with the genetic disease and the fear that her daughter could be facing the same problems.
For Emma, her lifestyle has been completely made over as her disease has become increasingly incapacitating. She first became symptomatic 15 years prior at age 33, when she experienced intense throbbing pains in her feet. It wasn’t until her early 40s that it got to the point of seeking a diagnosis; she was told she had the joint disorder rheumatoid arthritis. The medications meant to help the characteristic pain and swelling were ineffective. It was only later that she learned she hadn’t been properly diagnosed.
Through the years, her symptoms progressively worsened and began to erode her mobility. She found out only two years ago that she has peripheral arthritis, a more common cause of the joint inflammation, and the more debilitating ankylosing spondylitis.
Ankylosing spondylitis (AS)
is a rare genetic type of spinal arthritis that causes chronic inflammation in the joints and spine, causing the back’s vertebrae to fuse together and lose mobility, described like a rigid bamboo pole. At times this inflammation spreads to other parts of the body, affecting the hips, knees, shoulders, and vision. While it has genetic factors, there are also environmental contributors. Symptoms can often be intense and disrupt normal habits. For this, preventative treatment is often recommended including certain drugs and a particular diet and exercises.
Life with Ankylosing Spondylitis
The disease has restructured and restricted her life as the symptoms manifested:
“I used to love seeing live music, wearing high heels and dancing, but I can’t do that anymore. I used to be able to stand for hours baking cakes and cooking meals, but I can’t now – nor can I run or cycle.”
Today, she has a rigorous health-care regime: frequent doctors visits, exercise, physiotherapy, surgeries, and bi-monthly biological injections. Each day, she takes a medley of pills: “I take 10 tablets in the morning, three at lunchtime and six at night.”
She says her favorite therapy is support from her kids. “My children have been brilliant. They know when I need help. I don’t always have to ask.”
Of course, there’s no way to undergo so much physical chaos and not have your mental health affected.
“I would be surprised if other people with this condition aren’t on antidepressants. You have down days and you feel quite low because this is your life now and there is no cure. It can become completely overwhelming.”
Her Daughter’s Diagnosis
One day when her daughter Sadie was 15 she couldn’t get out of bed due to the intensity of the pain. They went to the hospital, where they received her diagnosis. Sadie was diagnosed with Ehlers-Danlos syndrome
, another rare genetic disorder that causes joint pain and fragility. The joint instability, caused by defective collagen in the connective tissue, means patients frequently suffer from dislocation, breaking, or bruising.
“She was only 11 and went dancing three times a week. Then her period started and a month later she could not walk. The condition was always there, but it was kick-started by her hormones.”
The diagnosis was only the first; it led to a journey into discovering multiple rare diseases impacting Sadie’s life. She had postural tachycardia syndrome
, anxiety, and vitamin D deficiency. She is still mobile, but sometimes is aided in walking with a stick. They are uncertain whether she has AS, but it does run in families, making it a possibility.
While Emma has been dealt a tough hand, she’s playing it as comfortable as she can. She knows cleaning and normal chores take much longer due to fatigue, but she’s bought a mattress, car, foot wear, kitchen gear, and a shower seat that suits her needs more. She’s a beneficiary of disabilities benefits and uses a blue badge to get her handicap parking. COVID-19 restrictions have deemed her vulnerable, meaning she’s been indoors for months.
“I have a decent sized garden and live on a quiet road so I’m confident if I step outside to do the bins, I’ll be safe. I know I have no choice but to stay inside, but I have space to do exercise and I’m in a nice environment so I’m better off than a lot of people.” – Emma