The story of Lea

A diagnosis…
It’s the first time I have decided to tell my story, why you ask? Because during my non stop journey during these long years I wish I had had read more stories and I had been able to reach out to more people… who knows it might have made a difference.

I got diagnosed with type 1 diabetes in 1999, aged 12. Back then I thought the world would end but I realised pretty quickly that this autoimmune condition with the right care, explanation and guidance could be well managed. It changed me but to be a better, healthier and more assertive person.

At a later age I got diagnosed with endometriosis, after suffering from unbelievable menstrual pain and heavy bleeding this too came as a relief, because I finally got recognition and acknowledgement that something wasn’t right.

I could have easily stopped there, it was enough to deal with, but at least I had the tools. The more difficult battles came later. I am 35 years old and in 2017, after the return from a trip I felt something had changed in my body. Being so in tune due to my diabetes and endometriosis I knew something wasn’t feeling right.

My long road to a diagnosis and recovery was just about to start, and I had no idea what a rollercoaster ride it would prove to be.

My symptoms started with the digestive tract and autonomic-dysfunction symptoms that were quite intense. I couldn’t digest food normally anymore, I kept fainting and having tachycardia, I was diagnosed with extremely dry eyes and to some extent dry mouth — but because no blood tests or exams were showing anything (except a positive tilt table test which confirmed my POTS diagnosis), I went from doctor to doctor (about 25) being called crazy, that I was having panic attacks and that things were all happening in my head. My back started hurting in an abnormal way, I had an MRI done and they found a bulging disk; eureka they thought they had an answer- although we couldn’t be further away from the truth. I was treated for the back pain with cortisone injections, but it did nothing and I kept getting worse, more tired, more pain, started noticing stiffness and some reduced movement. Most importantly I started feeling like my life had been put on pause. I couldn’t do things the way I wanted to or simply wasn’t able to do them anymore. However, the worse was having no one believe something was wrong and getting dismissed by all the medical community.

My body gave up in 2019 because I kept saying something was wrong and no one was listening, no one had answers and I started having non epileptic seizures. For the doctors this was a miracle because they could finally say something was wrong but not wrong. In fact, it was my body’s way of screaming that something was really worse and that it needed to be addressed. And yet the doctors focused on the functional symptoms that were obvious and easier to treat and kept dismissing all my complaints about weakness, stiffness, tiredness, and that all these feelings couldn’t be real and that everything was all in my head. In their eyes, I held the key to getting better, all I had to do was do some cognitive behaviour therapy, relax and life would be back to normal in no time.

With a lot of determination and focus I started trying to eat healthier and be my own advocate and tried sports which helped tremendously although I was always conscious of this pain in my back that would never really go. At the end of 2020, all my efforts went down the drain and I started noticing stiffness and weird sensations all along my right hip, leg, and plantar fasciitis. I went from being able to run and exercise four times a week to not be able to twist my torso properly, not being able to bend to pick things up, to not walking properly, to finding it difficult to go up and down the stairs and to stop being able to do simple tasks. Things deteriorated quickly. I was lucky to find a neurologist who listened to me for 2 hours and took a look at my entire history when she finally said : “We will of course do all the tests that need to be done, but it’s not all in your head, I think you have something called stiff person syndrome.”

And for the first time in 5 years came a wave of relief, while I saw the distraught look on my parents faces as they started googling what this meant, I felt peace because for the first time I felt acknowledged. In retrospect it only dawned on me a few months later what a challenging and life altering diagnosis this meant but the day I got a real diagnosis a part of me started to live again and with it came back determination to get better. If I had finally found the disease I could do everything in my power to get better.

This is when I started researching, reading, and looking for answers and I realised how little was available but how could it be any different if I was the 1 in a million, of course things were going to be difficult.

Aside from having a great neurologist in my home country, I decided to research and go see who the best doctor for SPS was in the world. My research led me to Dr. Scott Newsome, John Hopkins and the SPS Foundation. I couldn’t be more grateful for having Dr. Newsome as my head neurologist and part of my team alongside my doctors back home and now becoming a part of the SPS foundation community.

This year has been tough and challenging, finding a treatment that works is still an arm length away. I am doing much better than at my worst a few months ago when I could barely stand, where all kind of noise and visual stimulation would put me in a terrible shape and where I thought things couldn’t get much worse. I will admit it is hard to accept especially at 35 that your body will never be the same. It is hard to see it not cooperate, to have to walk with a cane and to ultimately know this is a progressive disease with no cure. But this has pushed my determination to speak out, want to raise awareness and to be part of the solution.

I will not dwell on the challenges I am facing and their difficulties, anyone who has SPS will know exactly what I am talking about and how much it impacts your life and the people around you.

I will instead choose to focus more on raising awareness, on not being ashamed to express how I feel, to never retract from life or not express when things are hard and to mostly tell people YOU ARE NOT ALONE. Listen to your body, your gut instincts are so on point, if something feels wrong than it is most likely wrong. Fight to be listened, heard, cared for, never take no for an answer. I learned the hard way and I finally got heard!

Below you can watch my video created by the Stiff Person Syndrome Research Foundation and follow my Instagram account aimed at raising awareness on rare diseases and autoimmune diseases. 

Testimonial of living with SPS