Published by ICSEB at 3 July, 2020
The story of a family
Hello, my name is Joanna Hoffmann. I am Polish and I live in Poland with my family. I would like to tell you about my family situation and the illness we have suffered, for the sake of other patients who are facing many years of diagnoses, looking for the causes of their disease. In this way, I may help other people who are suffering. The story we had to live through was hard to bear mentally and implausible for us, but unfortunately it really happened. The symptoms of my illness started as early as childhood, but they were not too bothersome, they were varied and they bothered me at various time intervals. No one associated them with a serious neurological disease like Arnold Chiari I Syndrome.
The decisive moment of the intensity of the symptoms came when I abandoned my ambitions, my dreams and my job in order to help my older son Norbert in his education. At that time, after many years of searching for an answer to my disorders, I was given two diagnoses in Poland: Tachycardia and irritable Bowel Syndrome. For many years I had been on psychotherapy due to my emotional labiality (going from depressive state to self-harm), which made my social relationships difficult. Finally, mental health conditions were ruled out by specialists.
However, I felt that something was wrong and I helped myself through psychological therapy to function more efficiently. I went to a neurologist because I suffered from annoying headaches, nausea, vomiting, problems with motor coordination, spasticity of my legs, numbness of the upper and lower extremities, joint pain and leg cramps. It was very important for me to rule out a neurological disease, due to my passion, climbing, and also because I started taking my children to the mountains and wanted to guarantee their safety. For more than two years they ruled out a series of neurological diseases based on my medical history, as well as my medical examinations. Some of the diseases they ruled out were: kinetosis (Motion sickness), carpal tunnel Syndrome, Rheumatism, Lyme disease, Raynaud’s Syndrome, Ménière’s disease, Arteriosclerosis, Multiple Sclerosis and Cancer. Tests showed nothing, however symptoms increased. Each potential diagnosis generated tremendous stress and anxiety. Finally, they did an MRI of the brain, the last of tests with which we were going to get an answer. While waiting for the result of this last exam, I started wondering if I suffered from hypochondria.
However, symptoms were very noticeable; I lost sensitivity in the upper and lower extremities, I became weaker and weaker, the simplest activities caused me great difficulty and pain, objects fell from my hands, I wobbled and fell without being able to keep my balance. I started having double vision and other visual alterations. When I received the result of the MRI, I visited the neurologist Celina Kauczor, to whom I am very grateful for her successful approach, as well as for the dedication to her work and to her patients. I heard the diagnosis: Arnold Chiari Syndrome. Satisfied with the fact that I finally knew what was happening to me, I thought I would just go to the pharmacy, buy the drugs, and recover. Unfortunately, I was informed that this is a rare and incurable disease, which is not treated pharmacologically; rather, its progression can be slowed down surgically by means of suboccipital craniectomy. After consulting the most prestigious Polish surgeons, I was told I should wait until the last moment to undergo the mentioned surgery, since the risk of complications (such as paralysis or death) was too high. Their recommendation was to take antidepressants and accept a possible disability or premature death.
Looking for help on the internet, I found a Polish website with information about a new treatment method: ” Filum System”. I decided to consult Spanish doctors, hoping the disease would be ruled out. However, the diagnosis was confirmed and I was told I was a candidate for the surgery, giving me hope of stopping the progression of the disease. The Caritas Diecezji Bielsko-Zywieckiej Foundation helped me. All my friends started raising funds, and together they covered the cost of my treatment.
Unfortunately, before the intervention, my health deteriorated and intellectual disorders appeared, exactly the same that my oldest son, Norbert, had since childhood: concentration problems, memory problems, visual and auditory alterations and difficulties in his speech. My son told me, more and more often, that he had leg cramps, back pain and headaches, and he passed out twice. For years, Norbert’s problems had been associated with an intellectual disability and, based on this, we had been stimulating his development with the available methods.
Anyway, we decided to do MRIs of Norbert’s brain and entire spine to rule out the disease I was suffering from. Unfortunately, the diagnosis was confirmed in his case. Due to the fact that my neurological condition was much worse than Norbert’s, and we had been raising funds for my surgery, the foundation decided that I would undergo surgery first. They convinced me that only by recovering my health first, could I help my son later.
On November 27 2017, I underwent a minimally invasive surgery according to the Filum System® method at the Institut Chiari & Siringomielia & Escoliosis in Barcelona. I could already feel a significant improvement immediately after the surgery. Since my health condition improved daily, we decided to start the fight and raise funds to cover the costs of my son Norbert’s surgery. Meanwhile, we got my youngest son Karol tested and sent the results to the Institut Chiari & Siringomielia & Escoliosis to rule out or confirm the disease we were suffering from. Karol had symptoms of the disease since childhood, but at that time we had no knowledge of Arnold Chiari Syndrome or Syringomyelia ( In Karol’s case), and the doctors reassured us with other diagnoses that could be treated. Some symptoms subsided for some time, but others remained, unfortunately only now we know what the cause was. Finally, thanks to the help of many people, donations, and also to the Institut, we achieved what seemed to be impossible. The children underwent surgery in Barcelona on February 12, 2019. As a mother, I could not have dreamed of such a good, professional and trustworthy care for my children. I think it was the best decision of my life.
I am very grateful to the doctors: to Dr. Miguel B. Royo Salvador for dedicating his life to science, to the discovery of Filum Disease (the disease of the 21st century), since thanks to that I can enjoy health together with my children. I also thank Dr. Horia Salca, the doctor responsible for ensuring the health of our family, who told me during the check-up visit that I could return to my passion: the mountains. I would also like to thank Nina Piórkowska for the highest level of care, friendly treatment, smile, understanding, as the person responsible for translations and inquiries. I thank the entire team at the Institut for existing and giving us hope with health and life.
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