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W 2013 roku Magda poszła na rutynowe prześwietlenie klatki piersiowej. Okazało się, że ma powiększone serce. Kardiolog stwierdził kardiomiopatię przerostową. Przepisał leki, ale nie dawały żadnej poprawy. Magda trafiła do szpitala. Tam lekarze zaczęli podejrzewać ultra rzadką chorobę Fabry’ego. To genetyczne schorzenie spowodowane niedoborem jednego z enzymów, które niszczy kolejne narządy. Po pół roku badań przyszło potwierdzenie diagnozy. Magdę wpisano na listę oczekujących na przeszczep serca. – Choroba Fabry’ego jest nieprzewidywalna. W szpitalu poznałam kobietę, która latami czekała na diagnozę i przeszczep. Nie doczekała. U mnie poszło błyskawicznie. Chociaż trudno się czeka na serce, bo żebym ja żyła, ktoś musiał umrzeć – opowiada Magda.
Przeszczep miała w 2016 roku. Miesiąc po tym, jak wróciła do domu ze szpitala, jej 19-letni syn dostał pierwszego udaru. – Matura, rekrutacja na studia, mój przeszczep. Uważano, że to wynik stresu – wspomina. Po roku miał drugi udar. Oba, jak się okazało, były spowodowane chorobą Fabry’ego. – Mój syn umierał. Przez pół roku dzwoniłam wszędzie, gdzie się dało, żeby zdobyć możliwość leczenia dla niego i siebie. Brat w Szwecji leczył się, my nie mogliśmy – dodaje Magda. W Europie leczenie Fabry’ego wdrożono w 2001 roku, Polska była jedynym krajem, który nie miał leku. Wprowadzono go dopiero w 2019 roku.
– Rok później na Facebooku przeczytałam, że w Centralnym Szpitalu Klinicznym organizowany jest Dzień Chorób Rzadkich i że dr Katarzyna Muras-Szwedziak zaprasza. Przyjechałam, ale nie wierzyłam, że dostaniemy leczenie – przyznaje Magda.
Poradnia Chorób Rzadkich od prawie trzech lat w Łodzi
Poradnia Chorób Rzadkich w Centralnym Szpitalu Klinicznym zaczęła się właśnie od choroby Fabry’ego. – Gdy byłam rezydentką, przyszli do mnie do poradni nefrologicznej dwaj bracia z tą chorobą. Nie miałam zielonego pojęcia o niej. Zaczęłam się tym interesować. Nie było jeszcze wtedy żadnej refundowanej terapii w Polsce. Tylko w ramach badań klinicznych można było podjąć leczenie. Nagle jeden z braci, paradoksalnie ten w lepszym stanie, zmarł. Bardzo mną to wstrząsnęło – wspomina dr Katarzyna Muras-Szwedziak, dziś koordynatorka Poradni Chorób Rzadkich w Łodzi.
Doktor jeszcze bardziej zaczęła zgłębiać temat i śledzić nowe doniesienia na temat diagnozy i leczenia Fabry’ego. Gdy w 2019 roku wprowadzono refundowaną terapię w Polsce, doktor zaangażowała się w szukanie pacjentów, głównie przez media społecznościowe. Szpital, dzięki wsparciu firm farmaceutycznych oferował też już wtedy proste, bezpłatne dla pacjentów testy, tzw. suchej kropli krwi pozwalające na badania przesiewowe w kierunku tej choroby. – Zgłosiły się do mnie dziesiątki osób, głównie już zdiagnozowanych, ale dotychczas nieleczonych. Tak doszliśmy do prawie 50 pacjentów. W całej Polsce jest ich ok. 100 – opowiada specjalistka. W ten sposób trafiła tu Magda. – Gdyby nie informacja na Facebooku, to nie wiem, czy nie pochowałabym już syna – nie ukrywa.
Niedługo później dr Muras-Szwedziak wymyśliła, by stworzyć poradnię dedykowaną pacjentom z chorobami rzadkimi i ultra rzadkimi. – Myślałam, że nikt się na to nie zgodzi. Jednak dyrekcja szpitala, poradni dała nam zielone światło. Zdobyliśmy wszystkie potrzebne zgody – mówi.
Poradnię Chorób Rzadkich w Centralnym Szpitalu Klinicznym w Łodzi oficjalnie otworzono w lipcu 2020. Jest to jedna z pierwszych tego typu placówek w Polsce zapewniająca kompleksową opiekę osobom z chorobami rzadkimi i ultra rzadkimi. – Od jednej choroby, pojedynczego pacjenta rozrosło się to do ogromnych rozmiarów, wielu programów, badań – zaznacza dr Muras-Szwedziak.
Pacjent z diagnozą, ale bez leczenia
Najczęściej trafiają tu pacjenci jeszcze niezdiagnozowani, którzy latami chodzą od specjalisty do specjalisty, bez efektów. – W Fabrym mimo łatwej dostępności do testów opóźnienie rozpoznania w Polsce to ok. 12-15 lat. To bardzo długo, a ta choroba powoduje stopniową degenerację narządów. Zmiany są już nieodwracalne, jeśli w odpowiednim momencie nie włączymy leczenia – tłumaczy dr Muras-Szwedziak. – Najdłużej na diagnozę czekał pan Grzegorz – 30 lat – wspomina. – Diagnozę dostał po transplantacji nerki. Kiedy doszły objawy kardiologiczne, kardiolodzy stwierdzili, że może chorować na Fabry’ego. Pierwsze objawy tej choroby, czyli białkomocz, miał już w wieku 18 lat. Do nas trafił już z diagnozą.
Wśród pacjentów są też tacy, którzy mają rozpoznane choroby, ale są one na tyle niszowe, że nikt nie wie o terapii, albo się o nią nie stara. Pacjent zostaje z diagnozą bez leczenia. – Niewielu jest lekarzy, którzy drążą i szukają programów lekowych. My ciągle monitorujemy na stronach badań klinicznych, czy na stronach programów lekowych nowe propozycje. Wysyłamy wnioski o leczenie do zespołu do spraw chorób ultra rzadkich. Nawet gdy coś nie jest refundowane, to może być dostępne w ramach ratunkowych terapii dostępów lekowych – mówi ekspertka i nie ukrywa: – To jest żmudna praca.
Problemów w zdobyciu możliwości leczenia jest coraz mniej, choć i takie wciąż się zdarzają. – Kiedyś trafił do nas pacjent z mannozydozą. W Polsce jest pięć takich osób. Chłopak miał 22 lata. Przez wiele lat był leczony w ramach badania klinicznego przez firmę farmaceutyczną. Badanie się skończyło i zabrali mu lek. Preparat został też zdjęty z listy leków w ramach terapii ratunkowej. Długo walczyliśmy, żeby udało się dostać zgodę na sprowadzenie leku i pokrycie kosztów leczenia. Potrzeba przy tym dużo determinacji – mówi dr Muras-Szwedziak.
Wielodyscyplinarne zespoły przyszłością medycyny
Choroba Fabry’ego stanowi główny kierunek działalności poradni. Pacjenci leczeni są tu zazwyczaj przy pomocy enzymatycznej terapii zastępczej. Do ośrodka zgłaszają się też osoby z innymi chorobami spichrzeniowymi, z alkaptonurią, amyloidozą, zespołami autozapalnymi i chorobami autoimmunologicznymi. By dostać się do poradni, potrzebne jest skierowanie. Dr Muras-Szwedziak tygodniowo przyjmuje 60-70 pacjentów z całego kraju. – Na początku wstydziłam się powiedzieć, że czegoś nie wiem, ale teraz mówię wprost, że muszę pomyśleć, poszukać, zastanowić się – tłumaczy.
Dr Katarzyna Muras-Szwedziak jest specjalistą chorób wewnętrznych, nefrologii i za chwilę – reumatologii. To ona na początku weryfikuje pacjentów, analizuje ich stan, zleca badania.
– To zabrzmi śmiesznie, ale czasem tak jak w „Dr. House” siadam i spisuje kolejne objawy. Analizuję, przeglądam piśmiennictwo, ale tego często nie ma w książkach. Cały czas trzeba się szkolić, doczytywać, to jest ciągła nauka – opowiada. Co miesiąc w ośrodku organizowane są spotkania, podczas których specjaliści wspólnie omawiają przypadki pacjentów i szukają diagnozy. W zespole jest jeszcze kardiolog, internista i neurolog.
– Niedawno trafił do nas 39-latek z poważnymi zmianami w nerkach. Dopiero po niemal roku wpadłam, na jaką chorobę może cierpieć. Był to zupełny przypadek. Akurat pojechałam na konferencję o zespołach autozapalnych. Cały czas myślałam o tym pacjencie i kiedy usłyszałam jeden z wykładów, pomyślałam, że to musi być to. Pacjent otrzymał leczenie celowane i jakby na nowo się narodził – opowiada dr Muras-Szwedziak. – To są pojedyncze historie, ale spektakularne sukcesy. Wielodyscyplinarne zespoły są przyszłością medycyny – dodaje.
Chorób rzadkich będzie przybywać
Szacuje się, że w Europie jest ok. 30 mln pacjentów z chorobami rzadkimi. Tych nazwanych jest ok. 8 tys. Choroba rzadka to taka, gdzie jest mniej niż pięć osób na 10 tys. ludności. Ultra rzadka to mniej niż jedna osoba na 50 tys.
– Chorób rzadkich, chociaż uważam, że powinniśmy je nazywać niezdiagnozowanymi, będzie przybywać. Defektów genetycznych, mutacji może być więcej, ale też po prostu lepiej diagnozujemy – mówi koordynatorka poradni. Dodaje: – Dlatego musimy uwrażliwiać studentów, lekarzy pierwszego kontaktu na takie choroby, bo często wydaje się nam, że raz przeczytamy o tym w książce na studiach i tyle.
Niedawno w CSK, dzięki wsparciu dyrekcji szpitala i zaangażowaniu prof. Krzysztofa Kaczmarka, który wraz z dr Muras-Szwedziak sprawuje bezpośrednią opiekę nad pacjentami, otworzono oddział terapii jednodniowej, gdzie zdiagnozowani pacjenci od razu otrzymują leczenie i mają wykonywane infuzje. Nie muszą przechodzić przez izbę przyjęć, oddział i spędzać całego dnia w szpitalu. – Co dwa tygodnie przyjeżdżamy na wlewy – mówi Magda, która właśnie przyjechała na taki oddział. Leczenie dostała już miesiąc po pierwszej wizycie w CSK, gdy przyjechała tu na wspomniany Dzień Chorób Rzadkich. – Nie jest łatwo, bo nie mogę już wykonywać swojego zawodu, a jestem inżynierem środowiska. Czasem jeden dzień przemęczenia, to dwa tygodnie leżenia w łóżku. Wiem, że już nigdy nie będę zdrowa, ale jestem chociaż leczona. Syn też. Wrócił na studia, dostał nowe życie – mówi.
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