On Rare Disease Day, Lorien tells us of how her achalasia was misdiagnosed and of how important it has been for her to receive support from her family, friends and the wider achalasia community
Lorien has just turned 32 and developed her first symptoms of achalasia in 2017. Achalasia, and her experience of being misdiagnosed, has had a profound impact on Lorien’s mental health and wellbeing. She has however found comfort from her family and friends, who have supported her through these difficult times. Of the help she has received from the wider achalasia support community, Lorien says:
“Sometimes I’m very angry or sad that my life is currently so small, whilst others my age are starting families, progressing in their careers, or travelling the world. In these moments, it helps to connect with fellow ‘A’-mazing people who experience the same things and share how they cope.
I hope that by sharing my story I can raise awareness of Achalasia. I think it is important that more people, especially healthcare professionals, get to know more about it, so that patients can be diagnosed earlier. Hopefully in the future, there will also be a cure.”
Please comment on and re-share Lorien’s story to increase awareness of this rare condition and to unite for a rare swallowing condition. You can find out more information about getting an achalasia diagnosis, and about different forms of treatments on Achalasia Action’s website. If you need support on living with achalasia, contact us on info@achalasia-action.org or on 0300 772 7795. You can also join our Achalasia Action Facebook Group and follow us on Instagram and X (formerly Twitter).
Lorien’s Achalasia Story
My name is Lorien, I am from the Netherlands and I have just turned 32. Until last summer I had never heard of Achalasia myself. Which is strange, as I’ve worked as a speech-and-language pathologist for some years and I graduated as a Neuroscientist. The disease is so rare (around 190 cases in the Netherlands) that even healthcare professionals aren’t educated properly about this condition.
Before I tell my story, I think it’s necessary to briefly explain what Achalasia is: ‘Achalasia’ is Latin for ‘the inability to relax’. It’s a swallowing disorder in which the lower esophageal sphincter loses its ability to open/relax in response to the swallowing reflex. In addition, the oesophagus loses its ability to squeeze food down via peristaltic movement. The disease is most probably an auto-immune condition.
I developed my first symptoms around 2017. I suffered from spasms now and then, but I didn’t think there was something wrong. Following COVID-19, in the beginning of 2022, my symptoms got worse. Ever since then, I had spasms three times per night, which made me tired. They hurt so much that some people say it’s the same experience as a heart attack. I have never had a heart attack, so I cannot compare them, but I think these people could be right.
My symptoms slowly got worse. I lost the ability to swallow food, had to regurgitate a lot and in the end, I had to cough so much due to choking that I couldn’t sleep anymore. The worst part was that I wasn’t believed by anyone, not even by my family. Possibly, this was because I had an eating disorder during my teenage years, so everybody thought this was the case again. It was all very confusing, and I started to believe it was all in my head, although I felt there was something wrong with my body.
It took me a year and a half, three GPs, and five gastroenterologists to finally get the right diagnosis. That was last August. By that time, my condition was not only physically very bad but also mentally, I was completely exhausted. I was so depressed and anxious because of everything that had happened in the past years that I seriously considered suicide.
While being on the waiting list for surgery, something traumatic happened: food got stuck in between my sphincter (which was by that time only 4 millimetres wide). I had to go to the hospital, where they had to get the food out via a gastroscope. After that, everything moved a bit faster. I got a feeding tube for 8 weeks, which gave me the ability to gain some weight. By the end of October, I had a balloon dilation, in which they opened my sphincter up to 35 millimetres. After that, I could slowly start eating soft solid foods again.
Currently, I go through ups and downs. I have periods in which I can eat a full plate of pasta (although always combined with a lot of sauce and water to help the food go down), and periods in which I have to switch back to fluid foods. I have to say that I’m still very anxious that the condition will worsen again. I am still struggling to cope with having a rare disease.
Sometimes I’m very angry or sad that my life is currently so small, whilst others my age are starting families, progressing in their careers, or travelling the world. I try to take it day by day and slowly start dreaming of having a more comfortable life again. In these moments, it helps to connect with fellow ‘A’-mazing people who experience the same things and share how they cope. In addition, it helps me to do polyvagal exercises. These exercises help to regulate the nervous system. Although I know it won’t cure my Achalasia, it can help me cope with the anxiety.
What also helps me is the support from my mom and stepfather. Since this summer I have lived with them again and they have supported me every step of the way. Also, my three best friends are real angels. One of them holds my hand during difficult moments and even sleeps next to me when I am anxious or in pain. My other best friend didn’t leave my side during treatment. She even went with me into the surgery room until I was under sedation. She recently gave birth to a little girl. Becoming an aunt has given me the power to move forward.
I hope that by sharing my story I can raise awareness of Achalasia. I think it is important that more people, especially healthcare professionals, get to know more about it, so that patients can be diagnosed earlier. Hopefully in the future, there will also be a cure.
