Three generations of carriers: passing on the anxiety
Over the years, a lot has changed for haemophilia patients and carriers. The Moors family consists of three generations of haemophilia carriers. Louisa Moors (89) is the mother of four children. One of her sons, John, has died from the effects of haemophilia.
“My parents were angry when I was pregnant. But I knew nothing about a bleeding disorder in the family.”
Her youngest son, Frank, has no haemophilia. Her two daughters, Marianne and Louise, are carriers.
To the Van Creveldkliniek
Now that granddaughter Relinde (40) is thinking about having children, many things fall into place for the family. “That is very special. Question marks are filled in for us,” says Relinde. She went with her questions and for further research to the Van Creveld clinic. For six months, Relinde has been taking medicines for her iron deficiency as a result of heavy bleeding during menstruation. “Now I am a completely different person. That was the moment when I said to my grandmother, aunt and mother: you must also go to the Van Creveld clinic.”
Haemophilia over the years
The three generations of women: grandmother, mother, aunt and granddaughter are all being treated by internist-haematologist Karin van Galen.
“The life stories of these women give a nice picture of the time in the different roles of mother, sister, daughter and patient,” says van Galen.
Over the years, these women have often felt misunderstood and not heard. “Van Galen is not only a skilled doctor, but you also build a bond with her. You are confident again,” says daughter Louise (62).
Now that the women are under the supervision of the Van Creveld clinic, the first DNA test has also been performed. “When we were growing up, doctors could only measure factor levels and clotting function. These values were used to make the diagnosis, but that is not at all reliable, “says Louise. “I may not even be a carrier.” Based on the diagnosis at the time, both daughters had themselves sterilized. “I really wanted to have children, but I was terrified that I would have a boy with haemophilia,” says Marianne (65).
Unexpectedly pregnant
Despite the sterilization, Marianne became pregnant. “I was very scared that it would be a boy.” That was excluded by means of an amniocentesis. “My father was only reassured when Relinde was born and he saw that it was actually a girl.” According to Marianne, those emotions and tensions continue with the next generation. “Everything that has lived with us continues with Relinde.”
In Louisa’s time, little was said about haemophilia within the family.
“I didn’t know about a blood disorder in the family at all and I was angry that my parents hadn’t told me.”
There was a lot of fear in the family about what would come. “The bleeds my brother John had been extreme and affected the family. We always had to take it into account, “says Louise. According to Louisa, the family has had a different life in that respect from families with healthy children.
Bleeding through the nerves
John sometimes had bleeding because of stress. “He was afraid that we would not be able to go on vacation because of him and got, therefore, a bleed,” says Louise. In all likelihood, two of Louise’s grandfather’s brothers have also died from haemophilia. Yet there was a lot of difference in the severity of the disease within the family. “Now it appears that there is also a platelet disorder in the family,” Relinde adds.
At that time it was not yet clear that as a carrier you could also have symptoms. “Because of her persuasion, Mommy was one of the first women who took the contraception pill.” At the time, it was not accepted because of religion. “You had to stand up for yourself at that time,” says Louisa. Daughter Louise also experienced the same years later during treatment at the dentist.
“I lost all my teeth because of the swelling and bleeding,” says Marianne.
Distrust
The mistrust of doctors and the fear of having a son with haemophilia now lives on with Relinde. Although boys with haemophilia, according to Relinde, can lead a good life. “But John, Grandma’s son, still plays a big part in my life,” says Relinde. He died at the age of 24 from a lung haemorrhage after a bicycle accident. “You experience the grief, but also the impact of the child with haemophilia within the family.”
Through the guidance within the Van Creveld clinic, Relinde would now feel supported when she decides to have children.
“If you find out that you are also a carrier, you feel that you are failing as a woman. You feel broken. Thanks to Dr Van Galen’s guidance, I have regained confidence.“
This story was first published on the website of the University Medical Centre in Utrecht in Dutch. The EHC has translated it into English for informational purposes.
For more information about women and bleeding disorders, consult our website.
To find the closest haemophilia treatment centre near you, visit the EUHANET website.
Jim is aged 66 and has Haemophilia A with a high titer inhibitor which he developed at age 14.
Maria Elisa Mancuso (MD, PhD) is a Haematologist and works as a Senior Haematology Consultant at the Center for Thrombosis and Haemorrhagic Diseases of IRCCS Humanitas Research Hospital in Rozzano, Milan, Italy. She is Adjunct Clinical Professor at Humanitas University. She obtained a post-degree in Clinical and Experimental Haematology and a PhD in Clinical Methodology. She is involved in clinical research and has published several original articles in peer-reviewed journals a The Lancet, Blood, Journal of Thrombosis and Haemostasis, Haematologica, Thrombosis and Haemostasis, British Journal of Haematology and Haemophilia. She is reviewer for several peer-reviewed journals and member of the Editorial Board of JTH. She is a member of several scientific societies (ISTH, WFH, ASH, EAHAD, SISET, AICE) and was a medical member of the Inhibitor Working Group of the European Hemophilia Consortium. She is co-chair of the ADVANCE Study Group. She has acted also as co-chair of the Scientific and Standardization Subcommittee of ISTH on FVIII, FIX and rare bleeding disorders. She has been involved as principal and co-investigator in several clinical trials, and she takes care of both children and adults with hemophilia and other congenital bleeding disorders with a specific scientific interest in novel therapies, prophylaxis, inhibitors, and chronic hepatitis C.
As a patient with factor II deficiency, the diagnostic and treatment of rare bleeding disorders is a matter dear to my heart. My motivation to participate in the work of the ERIN committee is to improve both diagnostic and treatment for patients with rare bleeding disorders across Europe.
Economist and financial expert by profession, executive coach and trainer by passion and haemophilia advocate by every drop of my blood through my son (who has severe haemophilia A with inhibitors). Bringing a good decade of practical experience from the corporate insurance world, laser focus, growth mindset and resilience from my own experience, offering you anything I can just do, in hope that together we can make life more fulfilled for those impacted by bleeding disorders.
Amy Owen-Wyard is a Registered Mental Health Nurse. With experience working with children, young people, their families and adults with severe and enduring mental health conditions. Amy was also involved in a service improvement to provide a holistic care approach for those in general hospitals to support both their mental and physical health, whilst sharing her expertise and knowledge in mental health with the wider multidisciplinary team.
