Women in Science 2021
To celebrate International Women in Science Day 2021, HHT Netherlands/Harteraad interviewed Josefien Hessels, age 24, ANIOS/ Clinical research physician, in HHT Centre of excellence: St. Antonius Hospital, Nieuwegein.
“It was a very pleasant virtual meeting with the spontaneous young doctor Josefien Hessels in the middle of the Covid-19 pandemic. Just graduated, will find out why and how she was inspired by the rare disease Hereditary Haemorrhagic Telangiectasia (HHT)”
I was introduced to scientific research during my study medicine. I realised that it’s really interesting and meaningful to participate in further improvement of health care.
Q2: How did you develop an interest in HHT?
During my internships I had the first contact with an HHT patient. The more I dived into the subject the more it intrigued me. It really is a diverse disease, since it affects many organ systems and the clinical manifestations can be very diverse. Therefore HHT patient examination and treatment are a close cooperation of many disciplines: Pulmonology, dermatology, radiology, neurology and gastro-enterology. Also interesting is the fact that one patient lives a relatively undisturbed healthy life whereas the other patient develops a very serious multisystem disorder.
That is how I gave my first presentation about HHT during that internship and subsequently wrote a review article in the Dutch magazine ‘Focus Vasculair’ together with Dr. J. Mager. (This article was also published in the magazine ‘Analyse’)
During the interview we talked about a very important project HHT Europe is working on about what HHT patient experience in lifetime ‘the patient pathway’. And how we feel the urge and the hope to give doctors even more insight into the patient perspective.
Josefien indicates: ‘I am very interested in the outcome of this project ‘the patient’s pathway’
Q3: How does your work influence the lives of HHT patients?
I would like to contribute to the improvement of HHT patients’ lives in two different ways:
– To improve screening and to develop new and improve existing treatment options.
– More specifically, in the past year I did investigate whether is it possible to extend the re-screening interval for pulmonary arteriovenous malformations (PAVMs) for patients without a right-to-left shunt at the first screening. In case of PAVM, there is a direct connection from the artery to the vein – bypassing the capillary network. Transthorasic contrast echocardiography is used to determine the presence of a right-to-left shunt, where the amount of micro-bubbles bypassing the capillary network and arriving in the left ventricle determines the grade of the shunt. Currently, patients without a pulmonary right-to-left-shunt are re-screened after five years. The research showed that it is possible to extend the re-screening interval to ten years without missing treatable PAVMs. This results in a decrease of hospital visits and medical examinations in this patient group.
Q4: Did you take the age at first screening and the use of the oral contraceptive pill into account?
During this study we examined the influence of several factors (such as gender, age, smoking and contraceptive pill use) on changes in the right-left shunt and the development of treatable PAVMs and no association was found.
Q5: What research for new treatment options are you working on?
For the beginning of 2021, we plan to participate in a multi-centre clinical trial on a new drug that was developed especially for HHT: a Pi3-kinase inhibitor.
Firstly, the drug will be tested for safety in healthy volunteers. Research in mice has shown that a Pi3-kinaseinhibitor can both prevent the formation of arteriovenous malformations (AVMs) and improve already-developed AVM’s. Besides that, there is a publication on a marked reduction of nosebleeds in an HHT patient who was treated with Pi3kinase-inhibitor for a different indication.
This clinical trial will be in cooperation with Vaderis therapeutics, Switzerland.
Q6: What struggles does a woman in science have to face?
Personally, as a woman I have not encountered problems in scientific research nor in general medicine. However, what I’ve noticed is the fact that the attention was pointed to timing of pregnancy and the influence of pregnancy and having children on your further career. This was often linked to career and the choice of the preferred medical specialism.
Q7: What message would you like to give to young girls interested in becoming scientists?
Josefien can explain clearly what she’d advise young girls. “The bottom line: go for whatever you aspire. By daring to deviate from the regular route and therefore avoiding being influenced by other people’s opinions, always stay true to yourself. With enough faith, everything can be accomplished”.
Q8: Do you think the way your parents raised you up has contributed to what you have reached?
‘Definitely’ says Josefien ‘and I am very grateful for that’.
She would like to mean something for HHT patients by contributing to optimize screening and the development of better therapeutic options, resulting in a better quality of life for HHT patients, preferably in the near future! We look forward to the results of the ten year follow up study on the use of TTCE for PAVM-screening and the future results of clinical trial with the new drug.
On behalf of all European patients and HHT Europe, we would like to thank Josefien and wish her the best of luck!
14th Januari 2021 Ria Blom, diagnosegroep ROW/HHT part of Harteraad, the Netherlands