Visiting Majdalenka

Some topics just take you by the heart. When we learned about spinal muscular atrophy, we decided to seek out more information and ways we can help.

Thanks to this, we met one Saturday in February to visit a little girl named Majdalenka in Teplice, where she recently moved with her mother. Majdalenka suffers from spinal muscular atrophy of the 2nd type and we, Tlusta Cara together with our VIP guest, went on our first introductory visit to see what we could help with.

What is SMA

What is spinal muscular atrophy? Spinal muscular atrophy, abbreviated SMA, is an inherited genetic disease manifested by poor communication between the brain and muscles through the spinal cord. The muscles gradually atrophy because of this, causing a whole host of other problems.

"SMAčci", as children suffering from SMA are termed in czech slang, have trouble controlling their limbs and even just learning to walk, to keep their head from falling, and in the worst case even to breathe. But they are not intellectually impaired in any way, quite the opposite.

SMA is divided into four types based on the age at which symptoms begin to appear. The first two are by far the most common and affect about three-quarters of affected children. Yes, children. In fact, spinal muscular atrophy of the first and second type manifests itself in children up to six months and two years of age, respectively. The third type manifests itself in preschool and school-age children, and the fourth type affects adults.

And how is SMA treated? None of the currently known treatments reverses pre-existing damage and do not cure the disability completely. However, they can stop the progression of the disease and the deterioration should no longer continue.

In the Czech Republic, Spinraza has been registered and used for treatment since 2017, the gene therapy Zolgensma has been available for specific use since 2020 and Evrysdi has been used since 2021. Other alternatives are in testing.

Spinraza is given by spinal puncture (injection into the spinal canal) every 4 months and Zolgensma only once as an infusion into a vein to replace the damaged gene with a synthetic one. However, the patient must meet very narrow criteria (age, weight, antibodies) to be eligible for gene therapy treatment at all. Treatment with both Spinraza and Zolgensma is already currently covered by health insurance companies.

To Majdalenka

David Matásek and his five years old son Toník joined us for a visit to Majdalenka. David is a film, TV and theatre actor known for a series of comedies about the life of a doctor and an incorrigible romantic (How the World Loses Poets, How Poets Taste Life, etc.), you can regularly see him in the lead role in the crime series Cop or on the stage of the National Theatre as a member of the local drama group. A lesser known fact about him is that he is also devoted to charity, and he is not indifferent to Majdalenka's story. We appreciate David very much and we are glad that he decided to visit Majdalenka with us.

We arrived at the pleasant housing development in Teplice, where Majdalenka and her mother had recently moved to, on Saturday before noon and soon we were greeted at the door by Majdalenka, her mother and grandmother and her cat Vanessa. We shook hands, handed over gifts and my colleague Veronika and David's son Tonik went to explore Majdalenka's room with Majdalenka, her grandmother and Vanessa, while we stayed in the kitchen with David and Majdalenka's mother, drinking coffee and telling Majdalenka's story.

The story of Majdalenka

Majdalenka is a cute and intelligent almost three years old girl with blonde hair, big brown eyes and a positive outlook on the world, who loves to play with Vanessa. Since she was a baby she had problems with movement - she had a hard time crawling and didn't want to lie on her tummy. So her mother set out to find out what could be wrong, and Majdalenka underwent a long series of examinations. Majdalenka was diagnosed with spinal muscular atrophy type II on August 13, 2021 at Thomayer Hospital in Prague.

It was a shock to her mother. Fortunately, it was possible to start treatment with Spinraza immediately, which relieved Majdalenka and improved her outlook. In 14 days she received a second dose of Spinraza and then came a surprise in the form of the insurance company informing her mother that Majdalenka would be reimbursed for gene therapy.

Gene therapy is administered in a single infusion that does not need to be repeated and aims to replace the damaged gene with its synthetic variant, unlike Spinraza which needs to be administered every 4 months by spinal tap, which is definitely not a pleasant experience. Majdalenka underwent gene therapy under her mother's supervision on 9 September 2021 with a few adverse symptoms such as lack of appetite and fever, but managed to overcome them and is now cheerful again.

Each of the SMA children is affected by the disease in a slightly different ways. For example, some can walk a little, but have trouble keeping their heads upright or have trouble breathing. Majdalenka has affected part of her tummy. Because of this, she has problems with digestion and her motor skills are a little strange, because she compensates for muscles in her abdomen that are not working properly. She can't stand up or walk yet, but she climbs and explores the apartment she and her mom live in very actively on all fours.

Where to find Majdalenka and how to help

Account number: 2402029307/2010

IBAN: CZ9820100000002402029307

BIC/SWIFT: FIOBCZPPXXX

Rehabilitation and equipment

In order for Majdalenka to make further progress, a stay in the specialized rehabilitation center Hájek is needed. In this centre they focus on patients with such specific problems, but it is necessary to go there regularly and repeat the rehabilitation for a long time. However, a visit to the Hájek centre is certainly not a cheap affair, one fortnight's rehabilitation stay costs CZK 80,000 and Majdalenka ideally needs to repeat it at least four times a year.

Majdalenka's prognosis from the doctors is that if she is lucky, she will hopefully be able to get up and walk, the specialists at Hájek think that with intensive therapy they will be able to teach her to walk short distances (e.g. to go to the toilet on her own).

Another problem of little Majdalenka is digestion. Due to problems with the muscles in her tummy, she needs a special wheelchair/bed to keep her in the correct vertical position to support the functioning of her digestion. In addition, even when she is not in the Hájek, she needs non-specialized rehabilitation, so she also undergoes regular maintenance rehabilitation in Teplice.

Sitting is also difficult for Majdalenka. Now she is waiting for a special chair, which she needs because she needs to be held in the right position due to her flabby abdominal muscles, so that sitting does not deform her spine and cause scoliosis, which could even make sitting impossible as she gets older.

Riding out is also a problem. Majdalenka has one pushchair, but it is an indoor pushchair, which is not designed for riding on uneven terrain and over curbs. The only wheelchair the insurance company offered for outdoor use is a wheelchair for larger children, which would be difficult to place and support Majdalenka in, as would a chair. A specialized wheelchair that meets her requirements is another big expense that Majdalenka's mom is currently dealing with

Helping Majdalenka

Majdalenka and her mother live in Teplice in a new apartment near Majdalenka's parents and the rest of the family. The family has become very close around Majdalenka and thanks to their efforts, many people from Teplice are helping them.

Majdalenka's mother's brother helped set up a transparent account, his soccer team auctioned off jerseys and paid for some expenses, and her father, who is a vice-principal at one of the local schools, found additional support through family friends.

The O2 Foundation helped with a monetary donation for the rehabilitation stay, and the Good Angel sends a monthly donation to cover other expenses. Thanks to this, Majdalenka has currently paid for 3 more stays in Hájko, hippotherapy (riding on a specially trained horse that helps by moving its back in step) and the aforementioned special wheelchair/bed to support blood circulation and digestion.

Help Early Care Organisation was invaluable, especially in the beginning, when after the diagnosis was made at the Thomayer Hospital in Prague, they visited the mother and Majdalenka and provided them with initial help. The organisation still sends staff to help out once a month for a few hours.

What's next?

Majdalenka has had successful gene therapy and is very mobile, inquisitive and intelligent. She enjoys the company of children and is playful and friendly, she and David's son Tonda spent a pleasant few hours playing in her room. As we discovered, she is also technically proficient. She hugged the teddy bear for a while and then asked us to break it apart for her, started playing with the settings of its sounds and lights and learned to switch it on and off in no time.

Majdalenka's mother is an extremely brave woman, she didn't complain about her fate at all and it was obvious that she is actually stupid to ask anyone for money, although they will of course need it in the future. She wants to lead Majdalenka to as much independence as possible.

My mother's side of the family is close-knit, the residents of Teplice are helping out, and thanks to requests they receive donations from small and large foundations. They live in a nice apartment in a housing estate overlooking Doubravka, grandma and grandpa live a few streets away and the most important care is arranged for some time, although what will happen next year is still in the stars.

What is currently needed is to find a specialized wheelchair for Majdalenka for outdoor use, to ensure that she continues to receive the most intensive care and regular visits to the Hájek Rehabilitation Centre. This is because Majdalenka is at an age when she is developing intensively, and the more intensively she exercises and works to improve her abilities until the age of six, the better her chances of being able to stand up and perhaps walk for a short time.

To ensure this goal, Majdalenka's mother could use some help with the bureaucracy. Foundations donate based on completed and submitted forms requesting assistance. However, each of these forms is slightly different and requires a different level of detail and range of information, so it is not possible to fill them out once and then copy them. So it would be ideal to find someone who could help the family with donation requests.

In addition, help with cleaning and housekeeping would be helpful to my mother. However, as she says, she cannot imagine the presence of a nanny. After the rehabilitation she is always happy when she and Majdalenka are together and she can fully devote herself to her.

We would like to help Majdalenka with getting a wheelchair and with arranging help with paperwork and forms. We are taking further steps in this direction and have formed a sincere friendship with her and her family.

Majdalenka's transparent account

Account number: 2402029307/2010

IBAN: CZ9820100000002402029307

BIC/SWIFT: FIOBCZPPXXX

Art group Tlustá čára, Author: Jan Hůlek, Proofreading: Anna Jechová, Ivana Kočík

Spinální svalová atrofie: Léčba

Po delší době tu máme další SMA okénko, dnes trochu veselejší – řekneme si totiž o léčbě.

🟪 Na začátek pro vás ale máme skvělou a čerstvou zprávu, a to, že se začátkem ledna v České republice začal provádět screening SMA v těhotenství, a tudíž je diagnostika a začátek léčby díky včasnému záchytu účinnější než kdy předtím. Doslova tedy zažíváme revoluci léčby SMA na vlastní oči a v reálném čase.

🟧 Nyní k samotné léčbě SMA, která je finančně i časově velmi nákladná, jelikož se skládá z farmakologické terapie, ale také z cvičení, rehabilitací a protahování.

🟨 V posledních letech nabírá klinický výzkum SMA velké obrátky – na trhu se totiž objevily dva léky Spinraza a Zolgensma, u kterých cena podání dosahuje až do výše milionů korun, ale které také od prosince 2020 proplácí zdravotní pojišťovna. Výsledky této léčby jsou velmi dobré, dokáže průběh zpomalit nebo zcela zastavit, a její podání se nedoporučuje pouze v ojedinělých případech. U léčených pacientů se úspěšnost léčby pohybuje nad 90 %.

🟩 Nedílnou a doprovodnou součástí léčby je rehabilitace. Je to velmi rozsáhlý komplex různorodých cvičení, masáží a protahování zahrnujících terapie ve vodě, s různými pomůckami, se zvířaty ale také domácí cvičení. Rozhýbat se musí vše od velkých svalů, jako jsou například záda a nohy, až po ty nejmenší motorické funkce, jako je úchop tužky nebo hrníčku. Všichni pacienti s SMA a jejich rodiny jsou velcí bojovníci, a my už se nemůžeme dočkat, až se na tuto náročnou cestu vydáme s nimi.

Sledujte nás, již brzy se můžete těšit na příběh o princezně @majdalenka_sma

Maruška

We from the art group Tlustá čára decided to interview our friend Maruška. We took a look into her artistic and personal life. Maruška, like us, creates, despite the fact that she is struggling with serious health limitations. She has our admiration and we cheer her on!

How did it all begin?

At grammar school, Maruška gravitated towards painting, she enjoyed it, but due to her limited movement of her hands she was not good at it. When deciding between music and art education, she opted for music. However, her desire for art and creation remained.

After graduation, Maruška was browsing the internet and saw a demo of a program that allows you to draw on the computer. She was intrigued by this option and wondered what it was and how to work with it. The program simulated drawing with pencil, brush and chalk.

So she tried taking a paintbrush online and doing her first line. It was definitely a Fat Line 😊. It took some time before she perfected this technique and drew her first picture. She got into the habit of listening to her favourite music while she created a form of music therapy of sorts for herself. Her first painting was made to the songs of Woodkid, and she loves to create to the songs of the band Nightwish, the film composer Thomas Bergersen, Adam Uličný and the band Jelen.

Maruška had a couple of exhibitions in Žďár nad Sázavou - in the Municipal Theatre, in the Matěj Josef Sychra Library and in the Bishop's Gymnasium. Mr. Josef Abrhám or Matěj Ruppert signed the signing book for visitors at the exhibitions. One picture was also dedicated to Lucie Bílá.

To date, she has painted about 200 pictures. Her favourite colours are purple, red and black.

Maruška

Maruška comes from a village near Žďár nad Sázavou. Since birth, she has been suffering from spinal muscular atrophy (SMA) and uses an electric wheelchair. Although she would like to be independent and relieve her family, she lives with her parents, who are both retired and take care of her. Due to her illness, she needs 24-hour assistance, which is very expensive and the monthly care is close to 100,000 CZK, which is not in her power to provide.

Since 2020 he has been undergoing the newly approved treatment with Spinraza at the University Hospital Brno. It brings new hope for Maruska. Every year she also goes with her mother to the rehabilitation institute in Brandýs nad Orlicí, in the past she underwent rehabilitation in Košumberk at the Hamza hospital. She fell in love with this place.

She realizes that there are other people in a similar situation to her who are affected by this disease. She is pursuing psychology and is seriously thinking of starting formal studies. She also tries to help and support people with the same illness.

She's a Rebel!

Maruška says that if she didn't have SMA, she would be a rebel, and we believe it! We are not surprised that she regularly visits the legendary music festival Masters of Rock in Vizovice, enjoys trips, barbecues and travelling around the Czech Republic. Her other dream is to go abroad, to visit the USA or Moscow.

As we mentioned in the introduction, Maruska came across painting on the internet. She has a very positive relationship with PC and technology. She even graduated from IT, so it's not surprising that she is a lover of computer games. Even her bunny is named Fredrik, after the Swedish developer of Haven and Hearth. While playing this game, by the way, she met a Russian academic painter who did the lines for 3 pictures and she finished them in PC.

Maruška also told us that she kept her artistic passion for art a secret. She hasn't told anyone about her art for about a year and humorously adds that her mother must have thought she was watching porn because every time she came into the room she quickly hid something. As we wrote, Maruška is a rebel! 😀

More information about Maruška can be found on her social networks

Interview

In your work we see a great inspiration from nature and natural patterns. What else inspires you in your work? What themes do you like to portray?

I try all possible themes and even like youtube, but of course it rarely resembles because in the videos they don't draw it in the computer like I do, they use real brushes. The painter can dip his brush in two colors at once, which is not possible in the program I have. At least you don't end up with a plagiarized work, but a completely new one :D, or at least that's how it usually works out. I think my favorite things to paint are trees and abstract images.

You mention in the text that you have a problem with the mobility of your upper limbs, so how is the painting done in the computer program? Can you tell us in which program you create your works?

The program is called Artrage. I tried another one, where the colours flowed and you could blow them out with a straw, but the computer absolutely couldn't handle it. I paint with a regular mouse, otherwise you can buy a pencil that responds to tilt and pressure. Unfortunately I can't use that because of my limited mobility. The mouse can be moved, whereas the pencil - wherever one touches the tip of the sensing pad, one touches the screen. Left corner of the pad = left corner of the screen.

Your personal photos ooze incredible energy and your smile is not missing anywhere. Even so, your life story is not a simple one. When were you diagnosed with SMA?

I've been told that, I don't know, I guess it's because I don't experience a lot of things, so when we happen to go somewhere, I'm happy. I don't mind SMA in general, I love traveling, I could fly outside all day in the summer. But unfortunately the only one who takes me anywhere is my mum and she's 65 now, so it's not so ideal anymore and sometimes I have to beg and we fight, which is exhausting. It would be nice to have more people for trips because I have a modified car, so I don't have a limit on that, but so far no one has come up with one. And paying someone to go on trips seems weird, impersonal, sad, like paying friends. I'm not criticizing the services and the people who use them, I just personally find it sad that a person can't do something for a person without being paid. I generally don't like the way the world is set up, but this philosophizing would go on for a long time.

I was diagnosed at 9 months. The disease was confirmed by genetic testing in Bonn, Germany, where they changed my original grade I to a more favourable grade, SMA II. I was also examined by my friend Prof. Václav Vojta at a meeting of neurologists in Nové Město na Moravě.

Those who have not experienced it can hardly imagine the situation. Could you describe your day with SMA in a nutshell? How can our readers possibly help and support you?

I don't know whether to describe it, because it's not very interesting. At the moment, I always equate it to the craziness around covid measures. People grumble and protest and don't appreciate what they have, yet I feel absolutely no change in my life in the covid situation. People should realise that even the most stringent measures are normal life for some people.

The only thing that annoys me about this diagnosis is that you need someone to come along. A person is trapped inside, yet has committed no crime, and still has to pay for their freedom because the state doesn't care. A friend who's living situation is dependent on assistance only, barely fits into the amount the state gives. She told me that she has had to pee because she only has assistance for 5 hours a day and the rest she waits on her own. So she doesn't drink and destroys her kidneys... everyone healthy should try it. It's time to invent a robotic assistant :D. One more thing that bothers me is that the "healthy" environment perceives us to be different. When we could say the same thing about you, but we don't say and label that maybe we are the special ones and you are the weird healthy copies. 😀

I don't really go out in the winter now. I wake up at about 10:00, my mom gets me dressed, toilets, everything... she puts me on the PC and I eat on it. Sometimes, when she has the strength, she exercises with me. Basically, I'm on the computer from 10:00 to 11:00, painting, watching movies, playing games, when my hands allow, I don't always have the strength. I just sit a little differently and I don't even eat. I also text a few people. I used to get more visitors, but they have their own lives now so it's not much. I have a few loyal ones left, but we only see each other a couple of times a year too.

In the summer it's a bit better, I can go into the garden and sometimes we go into the woods or on a trip and for a month to a rehab facility, that's the only livelier time in my life. It's funny how everybody there says they're looking forward to going home, and I always say I'd move there. Actually, I've always liked hospital stays as well, not examinations of course, but I'm around people and that's good. That's probably what I miss the most, contact with people, chatting doesn't make up for it.

And how readers can help me, hmm, that's hard. I don't like to ask for help, much less money, this disease that destroys many hasn't gotten me yet. 😀 I don't have a positive relationship with money, and yet I need it to live, it annoys me terribly.

I don't like it at all that young mothers immediately beg and stuff the child into the media so that people feel sorry for them and send them money. I guess sometimes it's necessary, but not always. Especially the state doesn't deal with such things when people pile on. There was probably only one foundation when I was young, and all they gave was a tiny lump sum for a motomed (an exercise bike for arms and legs), and we paid for the rest of the stuff ourselves. If something was expensive, I just didn't have it, and it's only now, 30 years later, that I've used one foundation for a few little things.

I will be happy if my story or my work makes readers happy or sends anything positive into their lives, so I won't ask for anything. :))

I can't help but notice that you are very active, despite your health complications you try to live life to the fullest. What are your plans for 2022? Can our followers look forward to any of your exhibitions?

I would be more active, but unfortunately I need the help of another person, and as I wrote, 99% of the time it is my mother. My sister comes with me to the festival in Vizovice, she is there with me, she helps me, she does my make-up, she does my hair. I'm very grateful to her. I know that some music is not her cup of tea, but she still takes the time, takes a vacation and comes with me. I'm very grateful to my family for taking care of me in everything, even though it's often very demanding.

I'm not planning a show for 2022, except for the one from you, if it works out 😊.

Artistic group Tlustá čára, Author: Ivana Kočík

Jak pomoci?

Nejzákladnější a nejdůležitější pomoc, jakou je možné poskytnout, je samozřejmě finanční – na nákladnou léčbu, zdravotní pomůcky, rehabilitace, ozdravné pobyty atd. Kontaktovat můžete pacientskou organizaci SMÁci, která se zabývá hájením zájmů pacientů.

Organizace nyní rozšířila svou službu krizové intervence a psychosociální podpory a poradenství a projekt Zlepšení péče o pacienty.

Je možné také kontaktovat rodiny napřímo a zjistit, jakou pomoc, kromě té finanční, potřebují. Například společné aktivity – výlety, cvičení, kultura, sdílení příběhů. Děti jsou rády za nové kamarády a pozitivní energii.

V odkazu níže najdete příběhy pacientů s odkazy na konkrétní osoby a jejich transparentní účty, kde lze přispět libovolnou částkou.

smaci.cz/co-je-sma/pribehy-pacientu

Osud těchto dětí nám není lhostejný. Uvádíme zde proto odkazy, kde můžete nabídnout svou pomoc:

SMA Příběhy

umělecká skupina tlustá čára spinální svalová atrofie SMA majdalenka

Visiting Majdalenka

Některá témata Vás prostě vezmou za srdce. Když jsme se dozvěděli o spinální svalové atrofii, rozhodli jsme se vyhledat více informací a způsoby, jak můžeme pomoci. Díky tomu jsme se jedné únorové soboty sešli, abychom navštívili malou holčičku Majdalenku v Teplicích, kam se nedávno přestěhovala se svou maminkou. Majdalenka trpí spinální svalovou atrofií druhého typu a my, Tlustá čára společně s naším VIP hostem, jsme se vydali na první seznamovací návštěvu zjistit, s čím bychom mohli pomoct.

Maruška

SMA Info Blog

O SMA

V minulém příspěvku jsme si pověděli, že existují čtyři typy SMA – 3 dětské, rozdělené na stádia I., II. a III. dle závažnosti, kdy první stádium znamená nejtěžší postižení, a dále typ adultní (dospělácké) formy. Ačkoliv je onemocnění velmi vzácné, je také velmi fatální a jedná se bohužel o nejčastější příčinu dětského úmrtí v ČR.
V České republice se s tímto onemocněním léčí přibližně 180 dětí a dospělých.

Více »

16. 2. 2022

SMA: Srdci prostě neporučíš

Co je to SMA? Velmi zjednodušeně se jedná o chybějící protein přenášející vzruch neurony z mozku do svalů, které poté ochabují. Ve většině se děti nejsou schopny naučit ani chodit a bohužel se jedná o nejčastější důvod brzkého úmrtí v dětském věku. Existují tři typy onemocnění SMA a naše holčička trpí druhým nejzávažnějším z nich.

Více »

16. 2. 2022

Spinální svalová atrofie: Léčba

SMA, neboli spinální svalová atrofie je genetická choroba projevující se převážně u velmi malých dětí. Jak se léčí?

Více »

5. 5. 2022

Srdci prostě neporučíš

Srdci prostě neporučíš. To jsme pochopili, když nás poprvé zasáhl příběh malé holčičky, která se potýká se zákeřným onemocněním SMA. A i když to není primární zaměření činností Tlusté čáry, rozhodli jsme se pomoci i v tomto sektoru.

Chceme tedy zaměřit naši pozornost na děti i dospělé, které tato nemoc zasáhla, problémem se zabývat, rozšířit povědomí ve společnosti a zmobilizovat všechny možné formy pomoci.

Již brzy Vám řekneme více o celém projektu. Srdci totiž prostě neporučíš!

Více o SMA projektu!

S M A

Hlásíme se, abychom naplno otevřeli téma spinální muskulární atrofie (dále pouze SMA), kterým se budeme v tomto roce zabývat. Naším cílem je dostat jej více do povědomí společnosti a pomoci dospělým a dětem, kteří tímto onemocněním trpí.

Náš dnešní příspěvek bude neveselý a trochu delší, ale o to více dokáže přiblížit závažnost celého tématu.
Pár základních faktů pro začátek.

Manifestem onemocnění je postupné ochabování svalů celého těla včetně svalů dýchacích, a neschopnost dýchat je tak nejčastějším důvodem úmrtí. Jednotlivci s SMA mají potíže s prováděním základních životních funkcí, SMA však neovlivňuje intelekt a schopnost člověka myslet, učit se a budovat vztahy s ostatními.

Všechny děti a dospělí trpící SMA jsou velcí bojovníci a my se jim na jejich cestě budeme snažit co nejvíce pomoci.
Dobré zprávy posledních let jsou již existující, i když velmi drahé léky, které proplácí pojišťovna a které dokážou průběh nemoci zpomalit, v některých případech i zcela zastavit.

Více informací nejen o léčbě si řekneme příště.

Vaše Tlustá čára.

Foto: Shane Rounce

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