Ženske in prirojene motnje strjevanja krvi
V Sloveniji po podatkih nacionalnega Registra živi 328 žensk s prirojeno motnjo strjevanja krvi. Glede na pričakovano prevalenco pa številka najverjetneje ne odraža dejanskega stanja, saj simptomi bolezni, ki je večinoma lahka, niso prepoznani kot nenormalni tako s strani bolnic kot tudi ne s strani stroke. Zato je ozaveščanje stroke kot tudi laikov zelo pomembno. Močna menstrualna krvavitev, ki jo opaža tretjina žensk v rodni dobi, je lahko vodilni, pa tudi edini simptom bolezni (https://letstalkperiod.ca/). Vsaka druga ženska zaradi tega poišče zdravniško pomoč. Izmed njih motnjo strjevanja krvi opredelimo pri 15-30 %.
In Slovenia, according to data from the national registry, 328 women are recorded as having a congenital bleeding disorder. However, based on expected prevalence, this number likely does not reflect the actual situation, as symptoms—mostly mild—are often not recognized as abnormal by either patients or healthcare professionals. Raising awareness among both medical professionals and the general public is therefore crucial. Heavy menstrual bleeding, observed in one-third of women of reproductive age, can be a leading or even the sole symptom of a bleeding disorder (https://letstalkperiod.ca/). Every second woman experiencing heavy menstrual bleeding seeks medical attention, and among them, 15–30% are diagnosed with a bleeding disorder.
dr. Barbara Faganel Kotnik, dr. med. Klinični oddelek za otroško hematologijo in onkologijo Pediatrične klinike v Ljubljani
Clinical Department of Pediatric Hematology and Oncology, Pediatric Clinic in Ljubljana
Motnje strjevanja krvi pri ženskah in dekletih - vpliv na kakovost življenja
Pri mladostnicah je močna menstrualna krvavitev povezana ne le s pomanjkanjem železa (do 60% bolnic) in utrujenostjo, ampak tudi z izostanki iz šole, družabnimi dogodki, aktivnostmi na prostem in telesno vzgojo.
Kljub negativnemu vplivu motenj strjevanja krvi na kakovost življenja, povezano z zdravjem, obstaja dolga zamuda med pojavom simptomov in diagnozo motnje strjevanja krvi.
In adolescent girls, heavy menstrual bleeding is associated not only with iron deficiency (in up to 60% of patients) and fatigue but also with school absences, missed social events, outdoor activities, and physical education.
Despite the negative impact of bleeding disorders on health-related quality of life, there is a long delay between the onset of symptoms and the diagnosis of a bleeding disorder.
izr. prof. dr. Irena Preložnik Zupan, dr. med.
Klinični oddelek za hematologijo UKC Ljubljana
Clinical Department of Hematology, University Hospital Ljubljana
Motnje strjevanja krvi pri ženskah in dekletih – vpliv na ginekološko zdravje
Vpliv na menstruacijo
Močna krvavitev lahko vodi do anemije, utrujenosti in zmanjšane kakovosti življenja. Če ima ženska nenavadno močne menstruacije, ki trajajo več kot sedem dni ali vključujejo velike krvne strdke, je smiselno opraviti pregled pri ginekologu.
Motnje strjevanja krvi in nosečnost
Nosečnost je čas, ko se v telesu ženske dogajajo številne spremembe, vključno s spremembami v krvnem obtoku. Pri ženskah z motnjami strjevanja krvi je tveganje za zaplete v nosečnosti večje. Možni zapleti vključujejo povečano tveganje za spontani splav, prekomerno krvavitev med porodom ali po njem in težave s posteljico (npr. prezgodnja ločitev posteljice).
Kontracepcija in tveganja
Izbira kontracepcije je pri ženskah z motnjami strjevanja krvi nekoliko bolj zapletena. Hormonska kontracepcija, zlasti tista, ki vsebuje estrogen, lahko poveča tveganje za krvne strdke pri ženskah s trombofilijo. Po drugi strani pa lahko hormonska kontracepcija z gestagenom zmanjša prekomerne krvavitve pri ženskah z motnjami, kot je von Willebrandova bolezen.
Bleeding disorders in women – impact on gynecological health
Impact on Menstruation
Women with bleeding disorders often experience heavy, prolonged, and painful periods. Excessive bleeding can lead to anemia, fatigue, and reduced quality of life. If a woman has unusually heavy menstruation lasting more than seven days or involving large blood clots, a gynecological evaluation is advisable.
Bleeding Disorders and Pregnancy
Pregnancy brings numerous changes to a woman's body, including alterations in blood circulation. Women with bleeding disorders have a higher risk of pregnancy complications, such as an increased likelihood of miscarriage, excessive bleeding during or after childbirth, and placental problems (e.g., premature placental abruption).
Contraception and Risks
Choosing contraception is more complex for women with bleeding disorders. Hormonal contraception, particularly estrogen-containing methods, can increase the risk of blood clots in women with thrombophilia. On the other hand, progestin-only hormonal contraception can help reduce excessive bleeding in conditions like von Willebrand disease.
doc. dr. Nina Kovačević, dr. med.
Onkološki inštitut Ljubljana
Oncology Institute Ljubljana
Pravilo 7-2-1
Kviz o motnjah strjevanja krvi
Tukaj je 9 glavnih simptomov, ki lahko nakazujejo na prisotnost motnje strjevanja krvi pri vas, ženski ali deklici, ki jo poznate.
Če ste obkljukali vsaj dva od spodnjih simptomov, vam svetujemo, da poiščete strokovni nasvet.
Mnoge ženske z motnjami strjevanja krvi se pogosto počutijo osamljene in izolirane. Pogovor o intimnih temah, kot so menstruacija, plodnost in samozavest, je lahko težaven, še posebej s tistimi, ki nimajo težav s strjevanjem krvi. Niste same! Na tisoče žensk v Evropi je v enakem položaju kot vi.
These 9 main symptoms could indicate the presence of a bleeding disorder.
If you have checked at least two of the boxes please do seek counselling.
Many women with bleeding disorders often feel lonely and isolated. Talking about intimate topics such as menstruation, fertility and self-confidence can be difficult, especially with those who do not have bleeding problems. You are not alone! Thousands of women in Europe are in the same situation as you.
Janez
Foto/Photo: Jošt Dolinšek
Rodil sem se v kmečki družini kot najstarejši sin in bil nekako izbran za naslednika kmetije. Imam hemofilijo B srednje stopnje (faktor IX 2,2 %). V moji družini je bila bolezen že poznana, saj sta bila tudi stric in stari stric hemofilika; mogoče smo tudi zato hemofilijo sprejeli kot sopotnika in se nismo posebej ukvarjali z njo. Težav s krvavitvami v sklepe skoraj nisem imel, morda tudi zaradi svoje razmeroma dobre fizične kondicije. Problemi so se začeli pri menjavi zob, bolj resne krvavitve pa pri desetih letih, ko sem dobil ulkus na dvanajstniku, ki me je spremljal tri desetletja. V bolnišnici sem se srečeval z drugimi hemofiliki – ta druženja so bila dragocena tako zaradi izmenjave izkušenj kot prijateljskih vezi.
Danes dobra zdravila preprečujejo krvavitve, zato me veseli, da je več pozornosti namenjene tudi lažjim oblikam hemofilije in motnjam strjevanja krvi pri ženskah, ki so bile dolgo zapostavljene.
I was born into a farming family as the eldest son and was naturally chosen as the successor to the farm. I have moderate haemophilia B (factor IX 2.2%). My family was already familiar with the condition, as both my uncle and great-uncle had haemophilia. Perhaps for this reason, we accepted haemophilia as a part of life and didn’t focus on it too much. I rarely experienced joint bleeds, possibly due to my relatively good physical condition. The real issues began when my baby teeth were falling out, and more serious bleeding occurred when I was ten years old and developed a duodenal ulcer, which troubled me for the next three decades. During hospital stays, I met other people with haemophilia—these gatherings were invaluable, not only for sharing experiences but also for forming lasting friendships.
Today, effective treatments prevent bleeding, and I’m pleased that more attention is being given to milder forms of haemophilia and bleeding disorders in women, which have long been overlooked.
Brina
Foto/Photo: osebni arhiv/personal archive
Leta 2016 sva z možem dobila sina Taja, ki so mu pri 10 dneh diagnosticirali motnjo strjevanja krvi – hemofilijo. Meni so povedali, da ta gen prenašam, torej da sem prenašalka hemofilije. Možnost, da prenesem gen na svoje otroke, je 50 %. Kot mama novorojenčka in kot ženska sem se precej obtoževala, da sem bila jaz »kriva« za njegovo bolezen — kljub temu, da za okvaro gena pred zanositvijo nisem vedela, pa čeprav sem razumsko dojela, da je to pač dedna napaka. Se je bilo pa potrebno z boleznijo soočiti in postaviti nove temelje, da smo kot družina »normalno« zaživeli kljub nekaterim oviram. Za nas je bila ena od ovir, da sem se morala naučiti Taju aplicirati zdravilo v žilo in ga sedaj sama dajem doma na vsake tri dni. Med drugimi smo tudi to oviro preskočili in je sedaj del našega vsakdanjega življenja.
In 2016, my husband and I welcomed our son, Taj. When he was just 10 days old, he was diagnosed with haemophilia, a bleeding disorder. I later learned that I carry the gene, making me a haemophilia carrier, with a 50% chance of passing it on to my children. As a mother of a newborn and as a woman, I blamed myself a lot, thinking I was "responsible" for his condition—even though I hadn't known about the gene mutation before pregnancy. Rationally, I understood that it was simply a genetic defect, but emotionally, it was hard to accept. We had to come to terms with the condition and lay new foundations so that, as a family, we could live a "normal" life despite certain challenges. One of those challenges was learning how to administer Taj’s medication into his vein, which I now do at home every three days. We overcame this challenge as well, and today, it’s simply a routine part of our daily lives.
Marion
Foto/Photo: osebni arhiv/personal archive
Naj storim to? Ali pa raje ne, raje ostanem na varni strani? Moja kri se po poškodbi ne strjuje, teče, teče, dokler si ne vbrizgam manjkajočega faktorja strjevanja. Za žensko s hudo motnjo strjevanja krvi je nosečnost še toliko večje tveganje. Kaj če splavim – kako huda bo krvavitev? Koliko bom krvavela med porodom? Kako hude bodo moje poporodne krvavitve – jih bo sploh mogoče ustaviti?
Predelati vse te strahove mi je vzelo leta. Potem sva se odločila. Tvegati. Sprejeti možnost, da postaneva starša, da se najina ljubezen udejani v otroku. Vsakih 24 ur sem si morala vbrizgati dve dozi faktorja strjevanja. V žilo. Več kot 10 mesecev. Bilo je naporno.
In sama tega ne bi zmogla – bil je ekipni trud: ob meni so bili moj partner, hematolog, ginekolog, družina in prijatelji. Danes je najina hči stara leto in pol in neskončno sem hvaležna, da lahko doživljam ta čudež v vsej njegovi lepoti in bolečini.
Should I do it? Or better not, better be on the safe side? My blood does not clot after an injury, it keeps flowing, running, bleeding, until I inject the missing clotting factor. For a woman with a severe bleeding disorder, getting pregnant is an even higher risk. What if I have a miscarriage, how bad will the bleeding be? How much will I bleed during delivery? How bad will my postpartum bleeds be, can they even be stopped? Working through all my fears took years. Then we decided to go for it. Take the risk. The chance to become parents, for our love to become a child. I had to inject two syringes of clotting factor every 24 hours. Into my veins. For more than 10 months. It was hard. And I couldn't have done it alone, it was a team effort: I had the support of my partner, my haematologist, my gynaecologist, my family and my friends. Our daughter is now 1,5 years old and I am so thankful I can experience this miracle with all its joy and pain.
Ajda
Foto/Photo: Boris Vranič
Rodila sem se očetu hemofiliku, zato sem tudi sama prenašalka hemofilije in imam znižano raven faktorja IX (18 %). To pomeni, da si pri poškodbah ne morem sama aplicirati faktorja, kot to lahko počnejo hemofiliki. Pri porodu sem morala biti posebej previdna – tik pred porodom sem si pripravila faktor IX, ki sem ga imela s sabo v porodni sobi, saj sem ga v primeru zapletov morala prejeti.
Prenašalke hemofilije se pogosto soočamo tudi z močnimi in dolgotrajnimi menstruacijami, kar precej vpliva na kakovost življenja. V takšnih primerih bi ženske z nizkimi ravnmi faktorja nujno potrebovale ustrezno nadomestno zdravljenje, a se tega pogosto premalo zavedamo —tudi zdravstvena stroka.
Doma sem na kmetiji, kjer z možem in dvema otrokoma vzgajamo kasaške konje in pridelujemo hrano za svojo družino. Kasaštvo je pri nas družinska tradicija – moj oče, hemofilik, se z njim ukvarja že več desetletij, jaz pa tekmujem že od svojega 15-ega leta. Moj največji uspehi so 2. mesto v Derbyju, 2. mesto v Jesenskem kriteriju in 2. mesto v Šampionatu Slovenije.
Življenje človeka, ki ima hemofilijo ali je njen prenašalec, prinaša določene izzive, a ob pravilni oskrbi in prilagoditvah je mogoče slediti svojim strastem in živeti polno življenje – tudi na kmetiji in v športu, ki zahteva hitrost, spretnost in odločnost.
I was born to a father with haemophilia, which means I am a haemophilia carrier and have a reduced level of coagulation Factor IX (18%). This means that in case of injury, I cannot self-administer factor replacement as men with haemophilia can. During childbirth, I had to take extra precautions—I prepared Factor IX in advance and brought it with me to the delivery room, as I would need it in case of complications.
Carriers of haemophilia often experience heavy and prolonged menstruation, which significantly impacts the quality of life. In such cases, women with low factor levels urgently require appropriate replacement therapy, yet awareness of this need remains limited—both among those affected and healthcare professionals.
I live on a farm with my husband and two children, where we breed trotting horses and grow food for our family. Harness racing is a family tradition. My father, who has haemophilia, has been involved in the sport for decades, and I have been competing since I was 15. My greatest achievements include second place in the Derby, second place in the Autumn Criterion, and second place in the Slovenian Championship.
Living with haemophilia or being a carrier comes with certain challenges, but with proper care and adaptations, it is possible to follow one’s passions and live a full life—even on a farm and in a sport that demands speed, skill, and determination.
Ana
Foto/Photo: osebni arhiv/personal archive
Sem Ana, imam pomanjkanje strjevalnih faktorjev VIII in XI, a živim polno in srečno življenje! Sem mama dveh zelo veselih, pametnih fantov, ki ju ljubim bolj kot vse na svetu ...
Moja prva nosečnost, dolgo pričakovana, je prinesla na svet dve novi življenji: ko se je rodil moj sin, sem se skupaj z njim rodila tudi jaz … za drugo življenje.
Bog mi je podaril čudovitega in popolnega otroka; tako popolnoma podobnega meni, da je podedoval tudi mojo motnjo – je hemofilik. Tista 50-odstotna možnost je postala stoodstotna resničnost in me v trenutku spremenila. Postala sem mama … Toda ne katerakoli mama, temveč mama hemofilika! Takoj sem začutila neizmerno ljubezen, ki je šla z roko v roki z veliko odgovornostjo. Želela sem izvedeti vse o hemofiliji, vendar so me te informacije vedno bolj obremenjevale in vodile v pretirano zaščitništvo do sina. Hemofilija je prevzela moje življenje in nisem vedela, kako omiliti svojo budnost ...
Na premišljen, a nenaden način je prišla druga nosečnost, še bolj zaželena (nisem želela, da bi bil moj sin sam, ko mene več ne bo ...). Rodil se je še en deček, čudovit in popoln kot prvi, a ne tako popoln kot jaz ... podedoval je tistih drugih 50 % genov, ki ne nosijo informacije za hemofilijo. Sprva tega nisem dojela, a tisti trenutek sem se ponovno rodila – za tretje življenje ...
Ista neizmerna ljubezen, ista odgovornost, isto zaščitništvo. A kako? Zakaj, če pa ni hemofilik? Ali je biti mama hemofilika enako kot biti mama katerega koli drugega otroka?
Ugotovila sem, da je odgovor – da. Navsezadnje hemofilija ne določa več ljubezni, več skrbi ali večje pazljivosti. Gre le za majhne razlike v skrbeh in drugačne vrste nege, a ljubezen ostaja enaka!
Dva otroka, tako različna in tako enako ljubljena. Z njima in zaradi njiju sem osebnostno, družbeno in čustveno zrasla. Razumela sem, kaj pomeni materinska ljubezen ... V njuni skrbi, nežnosti in pozornosti se prepoznavam tudi v svoji mami, ki me še danes obdaja z ljubeznijo (rada te imam, mami!). In zgodovina se ponavlja – zdaj sem jaz tista, ki posluša: "Mami, ne dajaj mi več poljubčkov!"
Naučila sem se pomembne lekcije, ki jo želim deliti z vami: "Hemofilije ne smemo ignorirati ali podcenjevati, vendar je tudi ne smemo precenjevati in pustiti, da prevzame naše življenje." – Znanje je ključ do razumevanja in ljubečega sprejemanja vpliva motnje strjevanja krvi na vaše življenje in družino!
Bodite varni in srečni!
I'm Ana, I have a deficit of coagulation factors VIII and XI, a full and happy life! I am the mother of two very cheerful, intelligent boys that I love more than anything in life...
My first pregnancy, much desired, gave rise to two new lives: when he was born, I was reborn with him... for a second life...
God gave me a beautiful and perfect baby; so perfectly equal to me, that he inherited my deficits – he is a Haemophiliac. That 50% chance became a 100% reality and immediately changed me as a person: I was now a mother... Not just any mother, I was the mother of a haemophiliac boy! I immediately felt an overwhelming love, hand in hand, with the weight of responsibility. I quickly wanted to know everything I could about haemophilia, and I felt that this information made me more and more tormented and justified an overprotection to my son. Haemophilia took over my life, I didn't know how to let my guard down...
In a premeditated but sudden way, the second pregnancy appeared, even more desired (I did not want my son to be alone after I leave...). Another boy was born, beautiful and perfect like the first, but not so perfectly like me... he got the other 50% of the genes that do not carry the genetic information for haemophilia. I didn't notice it right away, but in that instant, I had been reborn again, for a third life...
The same overwhelming love, the same responsibility, the same overprotection. But how? Why, if he is not a haemophiliac? Is being a mother of a haemophiliac boy the same as being a mother of any other boy?
I found out that yes... After all, haemophilia does not determine more love, more restlessness or greater care, they are small differences in the type of concern, they are different care, but loving is the same!
Two children, so different, and so equally loved; for them and with them I grew in all dimensions, personal, social, human and affective. I understand what a mother's love is for her children… I see myself in the care, concern and affection with which my mother still surrounds me today (I love you very much mom!) and history repeats itself; today I am the one who hears: "Mommy, don't give me any more kisses!".
I learned a lesson that I want to share with you: "we cannot ignore or belittle haemophilia, but we cannot overvalue it either, letting it dominate our live.” – Information is key to understanding and dealing lovingly with the impact of a bleeding disorder in your life and family!
Stay safe and be happy!
Nada in Marija
Foto/Photo: Mitja Kavčič
Sva sestri Marija in Nada s Ptuja. Najino bolezen so odkrili pri prvem cepljenju, ker se kri ni zaustavila. V Pediatrični bolnici v Ljubljani so ugotovili, da nama primanjkuje faktorja VIII, da imava von Willebrandovo bolezen tip 3. Otroška in mlada leta sva preživljali na majhni kmetiji z bratoma, ki pa sta zdrava. Živiva normalno življenje z omejitvami z aplikacijami F VIII. Vedno se zdraviva v UKC Ljubljana.
Marija ima sina in vnukinjo, ki sta zdrava. Rada se druži s prijatelji, pomaga, skrbi za kondicijo s sprehodi in telovadbo.
Nadi je v veselje ročno delo, kvačkanje raznih izdelkov (prtički, rože, okraski za jelko, košarice, jajčka itd.) Sedaj tega ne more več, rada pa še vedno ustvarja novoletna voščila. V veselje ji je delo v majhnem vrtu, pa tudi vsakodnevni sprehodi s kužkom.
Hvala vsem, ki skrbite za naše zdravje!
We are sisters, Marija and Nada, from Ptuj. Our condition was discovered during our first vaccination when the bleeding wouldn’t stop. At the Pediatric Hospital in Ljubljana, we were diagnosed with factor VIII deficiency and type 3 von Willebrand disease.
We spent our childhood and teenage years on a small farm with our two brothers, who are both healthy. Despite certain limitations and the need for regular factor VIII infusions, we live normal lives. We always receive our treatment at the University Medical Centre Ljubljana.
Marija has a son and a granddaughter, both of whom are healthy. She enjoys socializing with friends, helping others, and staying active with walks and exercise.
Nada finds joy in handicrafts, especially crocheting items like doilies, flowers, Christmas ornaments, baskets, and decorative eggs. Although she can no longer crochet, she still enjoys creating handmade holiday cards. She also takes pleasure in working in her small garden and going for daily walks with her dog.
A heartfelt thank you to everyone who takes care of our health!
Lenka
Foto/Photo: osebni arhiv/personal archive
Pred odločanjem za družino se seveda pojavi vprašanje: »Kaj če bo hemofilik?« Zdravstvene težave zaradi hemofilije sem poznala že pri svojem očetu, od katerega sem dobila gen, a s partnerjem sva vedela tudi, da je zdravljenje danes že tako napredovalo, da se lahko s hemofilijo relativno normalno živi.
Pri prvem otroku je ultrazvočni pregled pokazal, da bo fant. Takrat se je moj oče hitro aktiviral in stopil v kontakt s specialisti za hemofilijo, pri katerih sem tudi opravila nekaj posvetov. Za bolj zanesljivo določitev spola je bila možnost tudi amniocenteza, vendar je zaradi rizičnosti nisem želela, saj sem želela otroka donositi ne glede na spol in možnost hemofilije, ki je bila 50-odstotna. Čez nekaj tednov pa se je na ponovnem UZ pregledu pokazalo, da je otrok deklica, zato smo prekinili s pregledi v kontekstu hemofilije.
Pri drugem otroku je bilo jasno, da bo fant, zato je bila resna tudi možnost bolezni. Mojega očeta je precej skrbelo, da bo tudi vnuček hemofilik, jaz pa sem želela ostati pozitivna in sem se na tihem »odločila«, da bo otrok zdrav. Porod je bil izredno hiter in težak, v Ljubljanski porodnišnici pa so do testov, ki so bili izvedljivi šele po 48 urah, zanj izredno lepo skrbeli, kot da bi bil pozitiven. Na naše veliko veselje so testi končno pokazali negativen izvid na hemofilijo. A tudi v nasprotnem primeru bi bili Davida zelo veseli in bi se na malo prilagojen ritem življenja pač pripravili in s tem živeli, kot živijo mnogi, nekateri tudi s težjimi diagnozami.
Before starting a family, the question naturally arose: "What if the baby has haemophilia?" I was familiar with the health challenges of haemophilia from my father, who passed the gene on to me, but my partner and I also knew that treatment had advanced significantly, allowing for a relatively normal life with haemophilia.
During my first pregnancy, an ultrasound revealed that we were expecting a boy. My father immediately took action, reaching out to haemophilia specialists, and I had several consultations with them. Amniocentesis was an option for a more reliable gender determination, but due to the associated risks, I chose not to undergo the procedure. I was determined to carry the pregnancy to term regardless of the baby’s sex or the 50% chance of inheriting haemophilia. A few weeks later, a follow-up ultrasound confirmed we were expecting a girl, so further haemophilia-related consultations were no longer necessary.
With my second child, it was clear from the start that we were having a boy, making haemophilia a real possibility. My father was deeply concerned that his grandson might inherit the condition, while I tried to stay optimistic, silently “deciding” that my child would be healthy. The birth was extremely fast and challenging, but at the Ljubljana maternity hospital, the staff cared for him with exceptional attention, treating him as though he was haemophilia-positive until testing could be performed after 48 hours. To our great relief, the test results came back negative. But even if they had confirmed haemophilia, we would have embraced David just the same. We would have adapted our lives accordingly—just as many families do, some facing even greater medical challenges.
Paulette
Foto/Photo: osebni arhiv/personal archive
Moje ime je Paulette in sem Francozinja. Sem mama 27-letne hčerke s hudo hemofilijo A, ki je posledica nove mutacije. Ko so ji postavili diagnozo, si moj mož in jaz nisva predstavljala, kaj bo to pomenilo za njeno prihodnost.
Da bi bolezen bolje razumela in bila nanjo bolj pripravljena, sem se pridružila Francoskemu društvu hemofilikov. Kmalu zatem sem postala prostovoljka in zagovornica, z namenom, da bi povečala prepoznavnost žensk in deklet z motnjami strjevanja krvi. Leta 2000 so zdravniki še vedno trdili, da je hemofilija bolezen, ki prizadene le moške, ženske pa so bile zgolj "prenašalke".
Postopoma so zdravstveni strokovnjaki začeli spreminjati način opisovanja bolezni. Pri tem so imela ključno vlogo združenja bolnikov, ki so prispevala k večji ozaveščenosti o ženskah in dekletih z motnjami strjevanja krvi. Danes se uporablja drugačna terminologija: vsaka ženska z ravnijo faktorja pod 40 % je zdaj priznana kot bolnica s hemofilijo A ali B in ne več le kot prenašalka. Takšne ženske zdaj prejemajo ustrezno zdravstveno oskrbo v centrih za zdravljenje hemofilije.
V letu 2025 moramo nadaljevati prizadevanja za zgodnejše in natančnejše diagnoze vseh žensk z motnjami strjevanja krvi, ne glede na njihovo bolezen ali kraj bivanja. Dostop do profilakse, kadar je potrebna, je ključen. Ne smemo pozabiti, da imajo ženske mesečne krvavitve in da močne menstruacije pri mnogih bistveno vplivajo na kakovost življenja.
My name is Paulette, and I am French. I am the mother of a 27-year-old daughter with severe haemophilia A, caused by a de novo mutation. When she was diagnosed, my husband and I had no idea what this would mean for her future.
To better understand the condition and be better prepared, I joined the French Haemophilia Society. Soon after, I became a volunteer and an advocate, working to give greater visibility to women and girls with bleeding disorders. Back in 2000, physicians still claimed that haemophilia was a disorder affecting only men, with women merely considered "carriers."
Step by step, healthcare professionals began to change the way they described the condition. Patient organisations played a crucial role in raising awareness of women and girls with bleeding disorders. Today, the terminology has evolved: any woman with a factor level below 40% is now recognized as having haemophilia A or B, rather than being labelled as a simple carrier. These women now receive proper follow-up care at Haemophilia Treatment Centres.
In 2025, we must continue advocating for earlier and more accurate diagnoses for all women with bleeding disorders, regardless of their condition or location. Access to prophylaxis when necessary is essential. Let’s not forget that women experience monthly bleeding, and for many, heavy menstrual bleeding significantly impacts their quality of life.
Biserka
Foto/Photo: Mitja Kavčič
Moja zgodba se začne v samem otroštvu, ko sem kot deklica velikokrat krvavela iz nosu. Krvavitve so bile včasih krajše, lahko pa tudi dolgotrajne. To me je spremljalo skozi vso osnovno šolo. Kot deklica sem zgodaj dobila močno menstruacijo z groznimi bolečinami, kar je trajalo vso mojo mladost. Leta 1995 je transfuziologinja opazila, da ni nekaj v redu z mojo krvjo, in ugotovila, da imam von Willebrandovo bolezen. Zato sem ob začetku operacije morala prejeti trombocitno plazmo. Na hematološki kliniki v Ljubljani sem izvedela, da imam trombocitno disfunkcijo. Širša preiskava ni bila narejena, češ da je predraga. Preteklo je kar nekaj let, ko sem naredila preiskavo na inštitutu za genetiko. Rezultat: trombocitopenija. Po nadaljnjih preiskavah sem dobila diagnozo trombocitopatija, ki je vpisana v register redkih krvnih bolezni. Letos bo 30 let, odkar obiskujem hematologijo. Nimam nobenih zdravil. V Sloveniji nas je devet s takšno diagnozo. V družini nihče ni imel teh težav. Zelo si želim, da bi bila tudi moja bolezen prepoznavna kot ostale redke krvne bolezni in da bi bili bolniki s to diagnozo enakovredni pri zdravljenju. Na koncu bi želela opozoriti na to, da bi bilo med zdravljenjem nujno prejemati potrebne informacije, tako da ne bi bolniki čakali in tavali v megli tako kot jaz. S tem bi rada opozorila pristojne, da je tudi zame in moje sotrpine največja vrednota živeti in biti srečen in zdrav.
My story begins in childhood when, as a little girl, I frequently experienced nosebleeds. Sometimes they were brief, but other times they lasted a long time. This continued throughout my elementary school years. I also started having heavy periods at an early age, accompanied by unbearable pain, which persisted throughout my youth.
In 1995, a transfusion specialist noticed something unusual in my blood and diagnosed me with von Willebrand disease. Because of this, I had to receive platelet plasma at the start of surgery. Later, at the Hematology Clinic in Ljubljana, I was told I had platelet dysfunction. However, a more extensive investigation wasn’t conducted, as it was deemed too expensive.Years passed before I underwent testing at the Institute of Genetics, where I was diagnosed with thrombocytopenia. Further examinations led to a final diagnosis of thrombocytopathy, which is now listed in the national registry of rare blood diseases. This year marks 30 years of my visits to the hematology department. I do not have any specific treatment. In Slovenia, only nine people share this diagnosis. No one in my family has ever had these issues.I strongly wish for my disease to be recognized like other rare blood disorders and for patients with this condition to receive equal access to care.
Lastly, I want to highlight the importance of receiving the right information during treatment so that patients don’t have to wait in uncertainty or navigate their illness in the dark as I did. I urge the relevant authorities to acknowledge that the greatest value in life—to live, be happy, and be healthy—applies equally to me and others in my situation.
Mojca
Foto/Photo: osebni arhiv/personal archive
Čeprav krvavim, ustvarjalno ŽIVIM!
Rodila sem se pred natanko pol stoletja s težko obliko von Willebrandove bolezeni, za katero so značilne pogoste in dolgotrajne krvavitve. Krvavitve se ne ustavijo zlahka. V nekaterih obdobjih krvavim vsak dan. Težko je bilo sprejeti številne omejitve in posebnosti zaradi krvavitev, nisem enaka zdravim ženskam. Od 15. leta dalje sama poskrbim za krvavitve z nadomeščanjem faktorja strjevanja krvi, kar precej olajša moje vedoželjno življenje. Kljub krvavitvam sem aktivna na različnih področjih. Življenje me je namreč obdarilo z močno voljo in neprestano željo po učenju in iskanju ravnovesja.Posvetila sem veliko časa različnim študijem na fakulteti in pridobila doktorski naziv. Osebno me izpolnjujejo dodatna izobraževanja na številnih področjih skrbi za zdravje človeka. Moje poslanstvo je pomoč ljudem v stiski in pri učnih težavah. V prostem času rada delam na svoji terapevtski posesti, kjer se ukvarjam z rastlinami. Narava je namreč tista, ki podpira človeka.Pri 40. letih sem rodila hčer. Kolikor mi je znano, sem do sedaj edina ženska s težko obliko von Willebrandove bolezni, ki sem rodila in preživela. Ni bilo enostavno, ni šlo vse po načrtih, večkrat sem skoraj izkrvavela. Z rojstvom deklice se je pričelo življenjsko učenje biti mati. Verjamem, da je bolezen tista, zaradi katere sem izbrala ustvarjalno pot vseživljenjskega učenja in iskanja sebe ter odgovorov na številna filozofska vprašanja: kdo sem, zakaj sem tu, odkod prihajam in kam grem.
Na svetu smo, da najdemo sebe in ravnovesje ustvarjalnega bivanja.
Although I Bleed, I Live Creatively!
I was born exactly half a century ago with a severe form of von Willebrand disease, characterized by frequent and prolonged bleeding. My bleeds do not stop easily, and at times, I experience them daily. Accepting the many limitations and challenges that come with this condition has not been easy—I am not the same as healthy women. Since the age of 15, I have managed my bleeds by self-administering clotting factor replacement therapy, which has made my inquisitive life much easier. Despite the bleeding, I remain active in many areas. Life has gifted me with strong willpower and an endless desire to learn and seek balance.
I dedicated much of my time to academic studies, earning a doctoral degree. I also pursue additional education in various fields related to human health and well-being. My mission is to support those in distress and help individuals struggling with learning difficulties. In my free time, I enjoy working on my therapeutic estate, where I tend to plants—nature, after all, is a source of healing and support.
At the age of 40, I gave birth to my daughter. As far as I know, I am the only woman with severe von Willebrand disease to have given birth and survived. It was not easy, and not everything went according to plan—I came close to bleeding out multiple times. With my daughter's birth began a lifelong journey of learning what it means to be a mother. I believe my condition has led me to embrace a creative path of lifelong learning and self-discovery, prompting me to seek answers to profound philosophical questions: Who am I? Why am I here? Where do I come from? Where am I going?
We are here to find ourselves and the balance of a creative life.
Mili
Foto/Photo: osebni arhiv/personal archive
»Saj to je čisto nekaj vsakdanjega,« mi je rekel zdravnik, ko sem pri prvi menstruaciji zaradi močne krvavitve pristala v UKC na ginekološki kliniki na transfuziji. Pa ni bilo. Takrat se nihče ni poglobil, zakaj je prišlo do tega, čeprav sem velikokrat med tistimi dnevi izgubljala zavest zaradi prevelike izgube krvi. Vedno je bil odgovor enak, da je to normalno. Pogosto so bile prisotne tudi krvavitve iz nosu, prav tako sem bila vedno vsa v modricah, pri urezninah ali posegih pa sem zaradi dolge krvavitve pogosto pristala na žganju žilic. Diagnozo von Willebrandova bolezen tip 2B sem prejela šele pri 24-ih letih, med prvo nosečnostjo, kjer me je pod okrilje vzel dr. Zver. Od drugih medicinskih delavcev kaj veliko podpore nisem imela, saj so skoraj vsi za motnjo strjevanja izvedeli šele od mene, tako je bilo tudi med vsemi tremi porodi in operativni posegi kar nekaj zmede glede oskrbe, saj nihče ni vedel, kaj potrebujem in kako aplicirati zdravila kljub pisnim navodilom hematologov. Sedaj je še vedno tako. Pri 36-ih letih sva se skupaj z 9-letnim sinom, ki je motnjo podedoval, na to kar navadila. Nikamor ne greva brez zdravil, če pa je kaj resnejšega, imamo na srečo vedno na razpolago dežurnega hematologa, na katerega se lahko kadarkoli obrneš po pomoč.
"This is completely normal," the doctor told me when I ended up at the gynecology clinic in UKC for a blood transfusion during my first period due to excessive bleeding. But it wasn’t. No one at the time looked deeper into why this was happening, even though I frequently lost consciousness during my period from severe blood loss. The response was always the same—it was considered normal. I also had frequent nosebleeds and was always covered in bruises. Any cuts or medical procedures often led to prolonged bleeding, requiring vessel cauterization. It wasn't until I was 24, during my first pregnancy, that I was finally diagnosed with von Willebrand disease type 2B, under the care of Dr. Zver.
Support from other medical professionals was scarce—most only learned about my bleeding disorder from me. This led to confusion during all three of my deliveries and surgical procedures, as no one knew what I needed or how to administer my medication, despite written instructions from hematologists. Unfortunately, this is still the case today.
At 36, I and my 9-year-old son, who inherited the condition, have adapted. We never go anywhere without our medication. Thankfully, in more serious situations, we always have access to an on-call hematologist who is available whenever we need help.
Mirjana
Foto/Photo: Mitja Kavčič
Življenje v dvoje – več kot diagnoza
Odločitev, da si ustvariš družino z osebo, za katero veš, da ima gensko motnjo strjevanja krvi, ni lahka. Vem, da se marsikdo ob tem vpraša, kako bo to vplivalo na skupno življenje, kako bo to dojemalo okolje in kakšne izzive bo prinesla prihodnost. A verjamem, da je vse odvisno od tega, kako oseba z motnjo sama sprejema svoje stanje.
Zato verjamem, da se vse začne že v otroštvu – s tem, kako starši otroku predstavijo njegovo stanje, kako se z njim spoprijemajo in kako otroka učijo živeti. Seveda to v teoriji zveni zelo lepo, a v praksi je starševstvo polno izzivov, dvomov in skrbi. Starši si želijo otroku omogočiti najboljše življenje, hkrati pa se soočajo s strahom pred neznanim in z odgovornostjo, ki jo prinaša življenje z diagnozo. Kljub temu imajo prav oni ključno vlogo – z odprtostjo, s podporo in pozitivnim pristopom otroku pomagajo oblikovati zdravo samozavest in občutek vrednosti.
Oseba z motnjo strjevanja krvi je veliko več kot le njena diagnoza. Njena osebnost, ambicije, sanje in vrednote so tisto, kar jo resnično določa. Zato bi želela spodbuditi vse, ki živijo z motnjo, da z dvignjeno glavo in ponosom sprejmejo svoje omejitve. Navsezadnje – tudi osebe brez diagnoze imajo svoje izzive, strahove in omejitve, pa jih to ne ustavi. Vsakdo nosi svojo zgodbo in prav vsak ima pravico hoditi skozi življenje samozavestno in z zavedanjem, da je več kot katerakoli okoliščina, s katero se sreča.
Omejitve obstajajo, a nas ne definirajo. V življenju ne moremo izbirati okoliščin, v katerih se rodimo, lahko pa izberemo, kako se bomo z njimi soočili – in s kom bomo stopili skozi življenje. Ljubezen se ne izbira po diagnozi. Partnerja izbereš s srcem.
Life as a Couple – More Than a Diagnosis
Choosing to build a life with someone who has a genetic bleeding disorder is not an easy decision. I know that many people wonder how it will affect life together, how others will perceive it, and what challenges the future may bring. But I believe everything depends on how the person with the condition embraces his/her own reality.
Therefore I believe it all starts in childhood – how parents introduce the condition, how they cope with it, and how they teach their child to live with it. In theory, this sounds simple, but in practice, parenting is full of challenges, doubts, and worries. Parents want to give their child the best possible life while facing a fear of the unknown and the responsibility of raising a child with a diagnosis. Yet, they play a crucial role – through openness, support, and a positive approach, they help their child build confidence and a strong sense of self-worth.
A person with a bleeding disorder is so much more than their diagnosis. Their personality, ambitions, dreams, and values are what truly define them. I want to encourage everyone living with a disorder to hold their head high and embrace their limitations with pride. After all, even those without a diagnosis face their own challenges and fears – yet that doesn’t stop them. Everyone carries their own story, and each of us has the right to walk through life with confidence, knowing we are more than any circumstance we encounter.
Limitations exist, but they do not define us. We cannot choose the circumstances we are born into, but we can choose how we face them – and who we walk through life with. Love isn’t chosen by diagnosis. You choose your partner with your heart.
Zahvala
