At Swixx, patient care is at the heart of what we do. We see ourselves and aspire to be patients’ reliable partners throughout the healthcare cycle, by supporting education and diagnosis as well as helping the local healthcare community achieve better access to our partners' innovative medicines. In this journey, we strive to support the patient community through numerous partnerships.
Facing and coping with a rare diagnosis can be challenging for patients and their caregivers. Through Swixx’s project called “My Rare Disease Journey,” we tried to showcase rare disease patients’ personal experiences, views and insights. We were privileged to collaborate with several Patient Advocacy Organizations – as part of their effort to raise awareness, understanding and early diagnosis of rare diseases.
From Rare to Resilient
My Journey with Pompe Disease: A Tale of Resilience and Triumph
I am Indrek, a 42-year-old man from Estonia, and my life has been a constant battle against serious diseases. At the age of 17, I was diagnosed with lymphoma, plunging me into five years of facing death repeatedly. While I emerged declared “healthy” in my early twenties, the lack of strength prevented me from rising to my feet. Little did I know that my struggles were far from over.
Waiting for the diagnosis
Every day I hoped that it would be a curable disease. The progression of my condition led to a desperate two-year period of being bedridden. I found myself in a frail body, unable to move my arms or legs due to muscle damage. It was a time when even the simplest task required the assistance of six people. Machines breathed for me, and my voice was reduced to a growling mumble through a tracheostomy. The significant maintenance expenses became a barrier for my mother to continue working. They were huge, and my mother could not even go to work to pay those costs. Of all the worries, she died thereafter soon. Ultimately, the immense stress proved to be too much, resulting in her passing and leaving me in sorrow.
Rare condition, unique treatment
The pivotal moment in my journey came when a dedicated nurse questioned the initial diagnosis. Extensive tests followed, and I was diagnosed with Pompe’s disease, a rare condition causing skeletal muscle weakness. Since 2016, my life has revolved around a unique treatment plan administered every two weeks, a process that demands resilience and patience.
Coping with Pompe disease entails a lifelong commitment to treatment while confronting a challenging prognosis. Treatment sessions, lasting 4-5 hours, can be physically draining, leading to fatigue, headaches, and a noticeable loss of energy. As with any chronic condition, persistent pain becomes a constant companion in daily life. Despite the usual slim build associated with my condition, I stand 189 cm and weigh 130 kg due to a slow metabolism. Bound to a wheelchair, I can’t walk on my own, but I am determined to continue to work on maintaining movement and strength. Still, I am incredibly thankful for getting this treatment; without it, people like me wouldn’t last long.
Every new day brings a chance for change
My perspective of life, death, and the absence of a higher power has evolved through years of facing unimaginable challenges. Amidst the challenges, I find joy in small victories and the unwavering support of loved ones. My work at an enterprise providing TV and internet services is not just a job but a commitment to contribute and find fulfillment despite my physical limitations. I count myself fortunate to have a wonderful wife who sees beyond the physical body. She sees the goodness in me, and her smile is my source of happiness. Reflecting on my extraordinary journey, I harbor no regrets. To those on the brink of losing hope, my message is simple – giving up is okay, but every new day brings a chance for change. Through tears and self-reflection, I pressed on, finding strength in the curiosity of what the next day would bring.
From rare to Resilient
My story bears witness to the strength of resilience, the importance of kindness, and the potential for positive change, even in the face of seemingly insurmountable challenges. It’s a journey that exemplifies the triumph of the human spirit and serves as a beacon of hope for those facing their own struggles.
This Material was created with support of Swixx Biopharma.
Testimonial represents the sole standpoint of the storyteller.
For any advice about treatment, patients must refer to their treating physician.
NM-CH-2024-2-422 February 2024
My Rare Journey
Navigating Motherhood with Gaucher’s Disease
My Rare Journey
Navigating Motherhood with Gaucher’s Disease
I’m Mariliis, a 35-year-old woman from Estonia and the only known woman in the country with Gaucher's disease. As I share my story, it’s a glimpse into my life – how I have faced challenges, found strength, and embraced motherhood despite living with this uncommon condition.
Early diagnosis
Gaucher disease is a rare genetic metabolic disorder typically involving the spleen, liver, and bone. It is a complex condition with a wide range of symptoms and severity, and unfortunately, it is not always easy to diagnose. Luckily, I was diagnosed early, at the age of 6. I had nose bleeding, and I lived with persistent pain in my stomach, and my spleen became very big. My blood test results confirmed there was a problem.
Timely and continuous treatment is the recipe for life. Without treatment, the condition deteriorates, and pain and bleeding will be persistent. Reflecting on a period when I temporarily paused treatment during a year-long adventure in Australia, I recall the significant setback I faced upon returning to Estonia. Due to the climate and sun, I had never felt more energetic in my life than there; towards the end, I started to feel that something was wrong. It served as a stark reminder of the vital role consistent treatment plays, as Gaucher cells had spread throughout my body, leading to a health collapse. It was the only time in 20 years that the disease affected my life so much; with resumed therapy, all went gradually to normal.
The turning point
Despite occasional bouts of intercostal neuralgia and monthly waves of fatigue, I maintain a positive outlook. My condition falls on the milder end of the spectrum, and I acknowledge the diversity within the Gaucher community, where each patient may experience the disease uniquely. In my teens, I grappled with depression, yearning for a normal life free from frequent hospital visits. The turning point came when I connected with the Swedish Gaucher Alliance, discovering a supportive community that understood my journey. This newfound circle of friends became my “Gaucher family,” dispelling my sense of isolation and lifting me out of depression.
Now I am a mother of three
Initially, my dream of becoming a mother encountered uncertainties. Early advice recommended abandoning thoughts of having children. However, as treatment progressed, I discovered that motherhood was indeed possible. I needed to comprehend the potential risks to my future children. Through careful preparation, consultations with doctors, and ongoing treatment, I successfully welcomed three children into my life, finding immense joy in their presence.
As a mother, I have faced unique challenges. My wrist weakness prevents me from carrying my children as much as I might like, but this limitation has fostered independence in them. Despite the adjustments, I radiate happiness and contentment in my role as a mother.
After my treatment regimen was changed to oral therapy several months ago, life became much easier for me and my family. I am not sure how would have coped with a twice-a-month infusion, as I was doing for all those previous years. Although, I understand how lucky we are that Gaucher disease has the treatment. In my journey, you find a remarkable story of triumph over adversity, a celebration of the strength found in supportive communities, and the fulfillment of a dream to create a loving family despite the challenges posed by Gaucher’s disease.
This Material was created with support of Swixx Biopharma.
Testimonial represents the sole standpoint of the storyteller.
For any advice about treatment, patients must refer to their treating physician.
NM-CH-2024-2-422 February 2024
My Rare Journey with Gaucher disease
Boris Krizman, Croatia
My Rare Journey with Gaucher disease
Boris Krizman, Croatia
This Material was created with support of Swixx Biopharma.
Testimonial represents the sole standpoint of the storyteller.
For any advice about treatment, patients must refer to their treating physician.
NM-CH-2024-2-422 February 2024
My Rare Journey with Fabry disease
Matjaž, Slovenia
My Rare Journey with Fabry disease
Matjaž, Slovenia
This Material was created with support of Swixx Biopharma.
Testimonial represents the sole standpoint of the storyteller.
For any advice about treatment, patients must refer to their treating physician.
NM-CH-2024-2-422 February 2024
Dragana and Vanja, Pompe patients, Serbia
Dragana and Vanja, Pompe patients, Serbia
This Material was created with support of Swixx Biopharma.
Testimonial represents the sole standpoint of the storyteller.
For any advice about treatment, patients must refer to their treating physician.
NM-CH-2024-2-422 February 2024
