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Nikola is only 18 years old, and her fight with the disease lasts practically all her life. A young woman suffers from SMA, or spinal muscular atrophy. Sounds like a sentence? Not for her. The eighteen-year-old does not give up, works in many fields and infects with optimism, because she has the whole world at her feet.
Patrycja Pupiec: SMA is a disease in which genetic determinants play an important role. Does anyone in your family also get sick?
Nikola Gościniak:No, no one in my family has a diagnosis of spinal muscular atrophy.
You received your first diagnosis a little over a year after your birth, but your mother was concerned about some symptoms. What exactly got her attention?
My mother was concerned about the very fact that I was a very small child. What also attracted attention was the slackness of the legs, which could spread like a frog. I did not crawl, I did not try to stand on my own, I was tilting my head back. If I had to describe it in one sentence, from what my mother told me, it was obvious that I was weaker than other children of the same age.
My guess is that the he alth care system your mother had to deal with when she was diagnosed was much different than the one we are complaining about today.
My mother told me that each doctor really said something different. When she noticed these disturbing symptoms and went to a specialist, she heard that "this is my beauty", "some children sit down later, others earlier". No reasons were searched for, but rather efforts were made to normalize these visible symptoms, and only genetic tests gave the final diagnosis.
Did your parents think about treatment abroad, did you receive treatment on the spot?
From what they mentioned, at that time not much was known about the treatment of spinal muscular atrophy in the world, including Poland. The only available form of treatment was rehabilitation and support from doctors.
Since when have you been rehabilitated?
Practically from the diagnosis. Back then, my parents had to drive me to my classes practically every day. It looked like that after kindergarten I was going straight to rehabilitation.
In SMA it is very important to diagnose the disease as early as possible, right?
Generally speaking, the sooner this diagnosis is indicated,all the better for a sick person. Today, a very important aspect of the fight against spinal muscular atrophy is to introduce treatment in addition to improvement. Today, patients with SMA already have such opportunities, even as soon as the disease is detected.
In your case, the diagnosis was completed early, but probably not all patients were so lucky …
Yes, unfortunately. I know cases of sick people who are bedridden. Of course it depends on the type of disease you have.
Exactly, what type do you have?
SMA type II.
People with motor disabilities often hear that their childhood is divided into two houses, one of which was a hospital. Was it similar in your case?
I was lucky enough to be in hospitals only twice in my life. However, I know a slightly different face of "bedridden" …
This means?
When I got sick, my house turned into a hospital. I had all the machines I needed to fight the disease in my room. In fact, all the care was on my parents, mainly my mother, who had to do everything herself, because doctors weren't willing to take me to the hospital when I was ill, because they didn't even know what the disease was.
In the past, your only weapon to fight your disease was rehabilitation. Today you are taking a medicine that helps in your daily functioning. How did it happen that the treatment was started?
When I was 8, a doctor from a hospital in Warsaw called me and said that there was a clinical trial in which I could participate if I wanted. The drug was in the research phase at the time, and we thought it through with my parents and agreed. From then on, I was a participant in this study for 2 years, then there was about a 3-year break and it was resumed, and then it was discontinued after some time, because it turned out that the preparation was not as effective as expected.
Then the same company started working on a drug that I am taking now.
So it wasn't as simple as it might seem.
Yes. Once again, I managed to "catch" on clinical trials for patients who had previously taken other medications.
Is treatment with this preparation fully reimbursed?
At the moment it is reimbursed because I take part in the research, so I get it for free, but it is not known how long it will last.
How has your life changed thanks to drugs?
In fact, I noticed the greatest improvement after about a month of taking the drug.I normally go to school, I do not have home schooling and I get tired very easily due to my ailments and scoliosis, but after a month I noticed that after 8-9 hours at school I come home and I am not as tired as I used to be.
I also noticed an improvement in the functionality of the body - I hold my hands better, they are more agile, I speak much louder, my appetite has improved. The positive effect of the treatment on my fitness is also confirmed by physiotherapists. After this first month, there were a lot of advantages and at the moment my disease just stands still and it is not worse.
Does the drug stop the progression of the disease?
Yes, this is the main effect of this preparation and it actually lived up to these expectations.
Has the COVID-19 pandemic affected your life?
Initially, I did not have the possibility of rehabilitation due to general restrictions, but I noticed that despite the lack of improvement, thanks to the treatment I returned to form faster. Generally, after previous breaks, this rebuilding took up to several months, and now I have done it much faster.
You mentioned that you go to school. Is it difficult to reconcile school, rehabilitation, extra-curricular activities?
I have rehabilitation every day, so it requires good organization, but it's not that it can't be combined. Of course, I'm tired afterwards, because I spend a lot of time at school, then rehabilitation, and when I come home, there are lessons to be done …
Do you find time for your passions? What are you interested in?
I love makeup. I make various occasional make-up, sometimes I also paint models for photo sessions. I try to fulfill in this and it gives me a lot of joy. My hobby is photomodeling.
These are the areas where you associate your future?
I would like to train in make-up in the future and work in this direction in general. Maybe I will go to college, but at the moment it is not a priority for me. In the future, I would like to open my own training activity combined with a beauty salon, where every woman could feel special, relax and rest.
What do you dream about?
That's a tough question (laughs). Rather, my plans are my goals that I want to pursue. At the moment, if I had to point out, I'd like to go on a trip to warm countries to get away from this winter stuff.
Do you have the feeling that your illness limits or inhibits you?
Not really, because neither me nor my familywe treated my illness as limiting us. You know that some things have to be done differently, others take much longer, but we've always tried to find a solution. I can even say that my illness has taught me to look for solutions.
I asked this because many he althy people believe that if someone is faced with an illness, his life is limited, and your history shows that it does not have to be that way. be.
Thank you. A lot of people think SMA is the end of the world, and my assumption is that there's no point in giving up. Don't focus on what you can't, but focus on what needs to be done, otherwise all you have to do is sit at home and complain, and you can just enjoy what you have.
And in moments of doubt, because there are probably moments when you are doing?
I have had something like this since I was a child, maybe thanks to my illness that I look at my life optimistically and probably that is why I live easier.
Can you say that your illness gave you strength?
I never really thought about it, but when you asked me this question now, I think maybe it really is?
I am sure it is!
I think so, because I can deal with everyday life, I pursue my passions, I want to develop and I think I'm not an easy opponent to my illness.
Have you ever experienced a negative reception of yourself, or do you have positive reactions?
I don't think it ever happened that someone was rude to me or ridiculed me even among my peers. I think I'm lucky, because I know that this is not the case with everyone.
With SMA it has been assumed that living with this disease is a life of constant uncertainty. Are you afraid of what the future holds?
This is exactly the right statement, because with SMA you never know what will happen the next day, but I try to keep inner peace, even when something is happening and usually we always find a suitable solution with the family.
Do you think SMA is a disease that society already knows, or is there a long way to go to understand what the disease is all about?
Certainly there is much more knowledge about it now, but there are still people who do not know anything about it. On the other hand, there are certainly fewer such cases than in the past. I remember when I was still littlegirl, knowledge about SMA was very little.
The disease accompanies you almost all your life. What changes do you see in the infrastructure and treatment of SMA?
First of all, it is a treatment that slows down disease and facilitates functioning. This is a really big step for people suffering from spinal muscular atrophy. There is reimbursed treatment that supports this fight against the disease.
Large cities such as Warsaw, for example, are very well adapted to people with physical disabilities. Public transport vehicles are low-floor, there are elevators, ramps. I realize that it does not matter for he althy people, but for me and my family it is a great help, because a person in a wheelchair is able to be independent and move around the city without assistance.
What would you like to tell other patients who also suffer from SMA?
First of all, there is no point in complaining and crying over your illness. I know that he is a difficult opponent, because I have been facing him for many years, but I try to enjoy what I have. Each success is another reason for me to be happy.
More about Nikola:
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Patrycja Pupiec Editor specializing in he alth promotion and psychology. Curiosity about people and their stories drives her to take up socially difficult topics. Author of the StrefaKobiety series devoted to women's he alth, in which she talks witha doctor about prophylaxis and the problems they are struggling with. He likes to be up to date, which is why he follows scientific discoveries, especially those related to medicine. Privately, a lover of animals, hiking and the work of Edward Stachura.