Former teacher Lesley Riley, 52, was diagnosed with a rare debilitating disease, but thanks to artificial intelligence, is now able to live a full life.
“This may sound odd, but when I was diagnosed with Fabry disease, a rare genetic lysosomal storage disorder, my initial feeling was one of relief.
Since the age of 20, I’ve suffered terrible migraines, chronic fatigue, pain, tingling and numbness in my hands, yet had been misdiagnosed with a variety of conditions including ulcerative colitis. I’d suffered those debilitating symptoms my whole adult life so to be finally correctly diagnosed eight years ago and receive an explanation for them gave me clarity and a degree of relief. That sense of relief was compounded by the fact the clinicians initially thought I might have cancer, so I guess I ended up with the better of the two diagnoses.
The pivotal moment came when I went for a routine eye exam and the optician looked in my eye and discovered a very specific rare condition, vortex keratopathy. I’ll always remember him looking in my
eye and saying, ‘I think we might have a problem here’. Other than specific medications, they knew
that only a few things can cause that. One is cancer, the other is Fabry disease, a very rare
genetic disease that affects 1 in every 50,000 people.
So, after my blood test came back positive for Fabry, I at least knew for the first time what I was actually dealing with. We were in the process of moving to Orange County in California, so I had to find someone here who knew about this rare disorder. That’s when I was lucky enough to discover a local doctor, Dr. Raymond Wang, one of the few doctors in the US specializing in this.
Unfortunately, my condition is progressively degenerative. This isn’t going to be fixed. I came to terms with that a long time ago – so it’s really about managing the condition. That involves eating a healthy, low-fat diet, plenty of exercise and lots of monitoring of my heart and kidney function. I take several medicines that help my heart and kidneys and every couple of months I also have to do blood work at CHOC children’s hospital. I have also suffered two small strokes, another symptom of Fabry disease.
I must admit, I knew nothing about AI before I started my treatment, but boy I’m so glad it exists because it’s been such a brilliant and integral part of my treatment and I’m so appreciative of it. When I was told AI would play a part in my treatment, I wasn’t nervous or skeptical about its use. I like to think I’m young enough not to be scared or intimidated by AI. My attitude was more, ‘Bring on the technology!’ I figured there are so many innovative people around the world working on AI that I was confident it wouldn’t be anything but a help, and a vital tool and resource to work hand-in-hand with the professionals. It’s also actually been a really educational process for me, learning about AI.
I sometimes wear a Zio patch cardiac monitor that constantly reads my heart, but the AI device that was recommended to me by my cardiologist, Dr. Anthony Chang, is a Kardia. It’s a tiny, amazing device, about the size of a credit card, that works with my Smartphone and enables me to do an electrocardiogram anywhere, anytime. So when I have irregular heartbeats or chest pains, I can capture what’s going on with my heart right in that moment simply by holding the Kardia against the back of my phone for thirty seconds, allowing it to record an EKG. The AI technology performs an automatic analysis and tells me if an abnormality has been detected or if everything appears normal. It then gives me a reading which can be emailed directly to Dr. Chang. It’s essentially a mobile EKG machine which is really fast and easy to use. I don’t even have to charge it, and it’s so slim and small, I keep it in my glasses case.
It means, whenever I get a chest pain or irregular heartbeat, rather than panic and have to race straight to the hospital, I can capture the real time information and send it direct to a specialist. I once had to use it at night and it was telling me an abnormal heart rate had been detected, so it was sent direct to Dr. Chang. He called me back immediately and said ‘I’m looking at it right now and your heart’s fine, there’s nothing to worry about and no need to go anywhere.’
It gives you instant peace of mind and I can’t tell you what a comfort that is. It means I can live a relatively normal life without that horrible thought, ‘Do I need to drop everything and get to the hospital and get this checked out?’ It’s an amazing tool. Having AI to filter that decision for me is also so beneficial to the doctors and the hospital and saves so much of their time too.
As a patient, I’ve been thrilled by the use of AI in my treatment. Having it onboard means I can get on with my life and not think about the condition too much. I’m trying to be a really good role model for my 16 year-old daughter. Unfortunately, she inherited the condition from me and was diagnosed with Fabry when she was 8 years old. She will have to be managed her entire lifetime, but at least she won’t ever have to be misdiagnosed and can make very healthy decisions throughout her life.
I feel very motivated to be a strong, healthy person, not just for my welfare, but also for my daughter’s. I want her to see that you can have this disease yet still live a full, productive life and it’s nothing to be scared of. She suffers from a lot of nerve pain in her hands and feet and lots of headaches and GI issues – but her heart and her kidney aren’t affected as yet and we’re monitoring them. There have been a couple of episodes where she suffered irregular heartbeats, so I gave her my Kardia and let her do an EKG, and then we could both see that it was nothing to get too worried about.
I’m the first one in my family to have this genetic mutation. My parents were genetically tested and were clear and my 15 year-old son does not have it. The disease is passed on the X chromosome, so it’s genetic luck of the draw.
One beautiful thing to come out of all this is that my daughter now really wants to go into medicine and genetics. Medical intelligence and innovation have become incredibly important to her.
She wants to be part of the team that finally figures this out and solves it. She was able to attend the MI3 Institute at CHOC hospital last summer and found that so inspiring. She’s always had the drive and determination, but now she has the inspiration to want to help AI take medicine across new frontiers.”