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The NF 1’s world, was show me in 2010, when my daughter had had the suspicious for NF. Since then, although I met the care from specialists to understand how the NF Works and what is the better way to talk with Family, I met the apocalyptical news from non specialists professionals, too.
On the major of the time, the NF suspicions began with the non specialists professionals. Based on the few informations from their studies age or some actualization made during their professional lifes, they are who, not rare, push families for a world full of doubts and uncertainties.
In that world, parents and families are obligated to understand NF by themselves. So that, probably, the pathway begins with the “Dr. Google”. It is there where they find the creepy news (sorry for this term but I do not find any better) about what NF is. They do not know yet, but that notices are outdated and it is a terror for any dad/mom which looking for informations about NF. With luck, that people get find some association as AMANF or CNNF. When they find this associations, a lot of questions begin to be clarified and start a long process to learn about the NF or how to lead with NF’s symptoms.
Particularly this is was my pathway. I have total conscious of that it is just one of a huge variable of ways arisen to deal with a disease as NF. That way I started to build a new Project for my life. Which consist of to dedicate my worries for the study about sociology and the NF’s impact in Family and society. I got my máster degree and nowadays I am doing my doctoral research. From my studies, beyond a shadow of doubt, the doctoral thesis from Dr. Daniele Carrieri, Neurofibromatosis Type 1 ( NF1 ): Family Experiences and Healthcare Management of a Genetic Syndrome Characterised by a Highly Uncertain Phenotype, defended in 2011 at University of Exeter – England, it is the most interesting. So far where I have notice, his thesis is the first to study NF in a sociological perspective. There are a lot of sensible personal views and the author put the basis of his thesis on the unpredictable symptoms of NF. And for a study which the unpredictable is the central subject, we are surprised with some many unpredictable emotions arisen from the reading.
The first chapters, we are like the student when, with some anxiety, we can learn about what is NF. Its clinical particularities, the development of its concepts, the gradual interesting about NF and the diference between NFs. We can learn, also, the interesting sugestion about its influence in the art, as the Picasso’s painting “Woman with a red beret”.
The course of reading drives us from an anxiety shift to a militant thought. We follow the debate on the influence of genetics on construction of identities, thinking in our reality in Brazil, and, happly wi can note his distancing of some ideas "mainstream" linked to biocitizenship and the involvement of families in the associations.
The transcripts of the interviews, carries our hearts for the thesis. It is possible to see our kids or families in their daily lifes, just there!! in front of us!!. Changing our emotions in anguish, doubt or anxiety we read the lines with the perfect sense of that we know what those interviewed want to tell us. So, we can share some ideas and disagree with others. But the emotion is a continuous companion of all paragraphs. The debate internally grows of us makes the following question: Are we live in a curse?
In the final part of the thesis, we are taken by the question of what to do. In an analysis of the involvement of the various actors that surround the NF, associations, health professionals, family members and patients, we realize the complexity of the environment we live not only as family members or patients, but as citizens.
The same caring way which Dr. Carrieri wrote the thesis, he answers the question of Dr. Luiz: How did you notice the families's resistance in accepting the disease?
How did you notice the families' resistance in accepting the disease?
Thank you Dr Luiz. Your question is very important and cuts across many of the issues I tackle in my thesis. The resistance depended on many interrelated factors. I will try to summarise a few below.
The extreme variability of NF1
Because of its variability, NF1 did not appear to be associated with a strong disease identity or community. Mildly affected individuals often refused to identify themselves with the more seriously affected ones and vice versa.
The tendency to ignore NF1
A lot of the people with NF1 and their family members told me (both explicitly and implicitly) how they tended to ignore, normalise, or even reject NF1 as much possible. They talked about normalising or minimising the disorder, avoiding to think about it, or focusing on the positive or more urgent aspects of daily lives. This tendency did not seem to be influenced by the severity of the condition in individuals and families. This tendency could also be seen as a way to manage the uncertainty of NF1. At the same time, NF1 could become relevant in certain particular moments in people’s lives, especially in relation to the emergence of serious complications or in relation to reproductive choices.
A fragmented illness identity
The emergence of serious complication did not necessarily lead people to embrace their NF1 diagnosis. The identities of individuals and families with NF1 tended to be fragmented according to what they perceived to be their most serious symptoms (for example tumours, deafness etc). Interestingly, there was also a tendency to seek support form associations that were related to these specific serious symptoms (for example cancer support groups, special needs schools etc) rather than the NF association.
A fragmented health care system
The interviews I made with healthcare professionals involved in the treatment of NF1 allowed me to identify a further cause for families resistance to accept their disease.
Overall healthcare professional lamented a general lack of knowledge about and effective services for NF1. They also observed that - similarly to what they had noticed with other lifelong complex multisystem conditions (e.g. Marfan syndrome, cerebral palsy, spina bifida etc.) - the symptoms of NF1 are normally addressed separately by different medical specialties with no one specialty taking a comprehensive view of the disease or coordinating the service.
This lead me to identify a trend for the patient’s illness identity to mirror the structure and practices of the healthcare system. I interpreted the patients and families’ tendency to minimize and not think about NF1 as being a possible modality of ‘adjustment’ to the lack of medical service offered around the syndrome. I also suggested that the prevailing medical approach characterised by the treatment of specific symptoms, without an overall understanding of the disorder, was reflected in the patients and families’ tendency to downplay their condition as a whole, and only to consider specific symptoms when they become pressing.
The thesis of Dr. Carrieri is undoubtedly an interesting source to understand the NF, the envolviment of families on care, the genetic issues on health, the voluntary involvement of families and the provision of health care. Most importantly than that, the thesis can overcome the coldness of academic work for a reading that warms us from inside because, from what we can see, was written in a sensitive and careful way. Enjoy your reading:
My readings for the week!
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