Living with a Rare Disease as a Family: A Co-Constructed Autoethnography from a Mother
Round 1
Reviewer 1 Report
Dear Authors,
This paper provides valuable insight into the need to consider the quality of life of individuals facing a life-long challenge as well as the family around them who share that journey.
In the introduction, please re-write the sentences without the direct quotations from the work of other authors, except where the original words form a definition, or other text that must not be paraphrased.
Please check the text for minor issues, for example:
Line 33, The phrase: "... genetically setpoint..." is not correct grammatically. The format of the first word requires a verb so: "..genetically set point..", but setpoint is a noun. Perhaps the first word should be an adjective: ".. genetical setpoint..." which would be correct grammatically.
Line 74 The phrase: "..and their jointly experience of FQoL,.." should be either: "...and their joint experience of FQoL,..", OR "..and their jointly experienced FQoL,.."
Line 204 Typo: "All the nuclear family members were given a change to read and comment .." This should be chance not change.
Line 240 "..as well as the feeling not to be taken seriously,.." should be: "..as well as the feeling of not being taken seriously,.."
Line 304 "..Difficult are the moments when he blames himself and feels guilty.." should be: "There are difficult moments when he blames himself and feels guilty..."
Lines 312, 313 "..which makes them too wise beyond their years." suggested change: "...which makes them also wise beyond their years."
Line 328 "For years, when the Eldest was sick, then the Youngest would be as well." suggested change delete the unnecessary word then: "For years, when the Eldest was sick, the Youngest would be as well."
Lines 374, 375 This sentence is a little confusing because "my daughter" and "her parents" do not belong together the way the sentence is written. "It was hard to find time to spend alone with my daughter, because there was always a sick brother at home, or her parents were working or exhausted."
Line 411 "Still, we both worry much about our children, not just the Eldest." suggested change: Still, we both worry a lot about our children, not just the Eldest.
Line 484 "...interesting than a young child, even though this is still our live!" suggested change "...interesting than a young child, even though this is still our life!"
Author Response
Dear reviewer,
Thank you for giving us the opportunity to submit a revised draft of the manuscript
“Living with a Rare Disease as a Family. A Co-constructed Autoethnography from a Mother” for consideration in Disabilities. We appreciate the time and effort that the reviewers dedicated to provide feedback on our manuscript and are grateful for the insightful comments on and valuable improvements to our paper. Many thank for this.
- This paper provides valuable insight into the need to consider the quality of life of individuals facing a life-long challenge as well as the family around them who share that journey. Thank you for these words.
- In the introduction, please re-write the sentences without the direct quotations from the work of other authors, except where the original words form a definition, or other text that must not be paraphrased. We have changed this accordingly.
Please check the text for minor issues, for example:
- Line 33, The phrase: "... genetically setpoint..." is not correct grammatically. The format of the first word requires a verb so: "..genetically set point..", but setpoint is a noun. Perhaps the first word should be an adjective: ".. genetical setpoint..." which would be correct grammatically.
- Line 74 The phrase: "..and their jointly experience of FQoL,.." should be either: "...and their joint experience of FQoL,..", OR "..and their jointly experienced FQoL,.."
- Line 204 Typo: "All the nuclear family members were given a change to read and comment .." This should be chance not change.
- Line 240 "..as well as the feeling not to be taken seriously,.." should be: "..as well as the feeling of not being taken seriously,.."
- Line 304 "..Difficult are the moments when he blames himself and feels guilty.." should be: "There are difficult moments when he blames himself and feels guilty..."
- Lines 312, 313 "..which makes them too wise beyond their years." suggested change: "...which makes them also wise beyond their years."
- Line 328 "For years, when the Eldest was sick, then the Youngest would be as well." suggested change delete the unnecessary word then: "For years, when the Eldest was sick, the Youngest would be as well."
- Lines 374, 375 This sentence is a little confusing because "my daughter" and "her parents" do not belong together the way the sentence is written. "It was hard to find time to spend alone with my daughter, because there was always a sick brother at home, or her parents were working or exhausted."
- Line 411 "Still, we both worry much about our children, not just the Eldest." suggested change: Still, we both worry a lot about our children, not just the Eldest.
- Line 484 "...interesting than a young child, even though this is still our live!" suggested change "...interesting than a young child, even though this is still our life!"
Thank you for these suggestions. We have processed all of them and the manuscript has been definitely improved.
Author Response File: 
Author Response.docx
Reviewer 2 Report
The lack of a theoretical consensus about what FQoL is, in general, should be established from the beginning of the theoretical review, as well as mentioning the contribution that the study of clinical cases with rare diseases can make to the refinement of the definition of the concept being sought.
There is no mention of whether the work was submitted to the Institutional Review Board (IRB), nor of the ethical considerations considered for the work (the informed consent of the main narrator and of the persons mentioned in the narrative).
Establish a systematization of the sections of the narratives, because sometimes the presentation of some sections (such as that of siblings) is redundant because the narratives on the individual role or the experiences that each of the two siblings have lived separately are taken up in a more profound way.
Just as when working with others who are intimate, autoethnographers must put into practice the ethical principles of autonomy, benefit, and justice, with the communities with whom they work, act, or write about.
The limitations of the work, the alternate avenues that can be employed in the study of FQoL with alien disease cases, the contributions this particular study makes to the conceptual precision of FQoL, and the ethical considerations of the work are not taken up.
Author Response
Dear reviewer,
Please see the attachment.
Best wishes
Author Response File: Author Response.docx
Reviewer 3 Report
It is a great honor to have this opportunity to review this article in greater depth.This is a carefully done study and the findings are of considerable interest.A few minor revisions are list below.
1.In the section on quality of life, you can adjust the logic of the discussion, for example, by moving up the concept of "family" and then discussing the quality of family life.
2.In the Rare Diseases section, line 67, the references on the growing interest in the quality of life of patients with NF1 are a bit excessive and some deletion may be considered, keeping only the core journals that are closely related to this article.
3.In the metaphor section, more details can be given about what metaphors are, why they are appropriate for this study, and how they are used in the study.
4.In the discussion section, line 544, there are a bit too many references, so consider deleting some of them and keeping only the core journals that are closely related to this paper.
Author Response
Dear reviewer,
Please see the attachment.
Best wishes
Round 2
Reviewer 3 Report
Thanks for inviting me again to evaluate the manuscript disabilities-1686743 entitled "Living with a Rare Disease as a Family A Co-constructed Autoethnography from a Mother". The manuscript is well-written and is acceptable for being published.
Author Response
Dear reviewer,
Thank you so much for evaluating the manuscript and finally finding it acceptable for being published. The article has really been improved by your recommendations! Thank you also for your valuable time!
Best wishes,
Irene (Caubo-)Damen
