Not just carriers: experiences of X-linked female heterozygotes

Jennifer Choi; Taylor Kane; Lauren Propst; Sara Spencer; Jamie Kostialik; Aishwarya Arjunan

doi:10.1007/s10815-021-02270-6

Not just carriers: experiences of X-linked female heterozygotes

Jennifer Choi^*, Taylor Kane, Lauren Propst, Sara Spencer, Jamie Kostialik, Aishwarya Arjunan

^*Corresponding author for this work

Dermatology

Research output: Contribution to journal › Article › peer-review

8 Scopus citations

Abstract

Purpose: To better understand the needs and experiences of the X-linked carrier community to improve future recognition, diagnosis, and treatment by bringing X-linked carrier voices together. Methods: An anonymous survey link was distributed to members of Remember the Girls, a non-profit organization for female (XX) carriers of X-linked conditions, through its website, Facebook group, Instagram, and Twitter. The survey was developed to gather data on XX carriers of numerous X-linked conditions. Results: One hundred and fifty individuals participated in the study. The majority (81/150) of individuals learned about their carrier status by giving birth to a son diagnosed with an X-linked condition. However, over 80% (120/145) believed that they should learn this information before the age of 18. Over 80% of participants (124/148) felt that they either have or may have symptoms attributable to their X-linked condition. Yet, only 10.1% (15/148) felt that they had sufficient access to knowledgeable healthcare providers and/or medical information. Additionally, 46.7% (70/150) of participants reported that healthcare providers did not discuss reproductive options with them. Improving carrier access to medical information, research studies, new treatments, and reproductive methods was found to be the top priority. Conclusion: Limited information exists on X-linked carriers’ risk for symptoms and there is a lack of available treatments. This study demonstrates the need for more knowledgeable healthcare providers and medical information within the X-linked carrier community.

Original language	English (US)
Pages (from-to)	2757-2767
Number of pages	11
Journal	Journal of Assisted Reproduction and Genetics
Volume	38
Issue number	10
DOIs	https://doi.org/10.1007/s10815-021-02270-6
State	Published - Oct 2021

Funding

The research was conducted as part of a Master’s thesis project for the Northwestern University Graduate Program in Genetic Counseling. Funding for the study was provided by Northwestern University. We thank the members of Remember the Girls for participating in the survey and sharing it with other X-linked carriers.

Keywords

Care management
Reproductive genetics
Symptomatic female (XX) carrier
X-linked condition

ASJC Scopus subject areas

Genetics(clinical)
Genetics
Obstetrics and Gynecology
Reproductive Medicine
Developmental Biology

Access to Document

10.1007/s10815-021-02270-6

Cite this

@article{f07bc5cc816f41888ef406cdf0efd489,

title = "Not just carriers: experiences of X-linked female heterozygotes",

abstract = "Purpose: To better understand the needs and experiences of the X-linked carrier community to improve future recognition, diagnosis, and treatment by bringing X-linked carrier voices together. Methods: An anonymous survey link was distributed to members of Remember the Girls, a non-profit organization for female (XX) carriers of X-linked conditions, through its website, Facebook group, Instagram, and Twitter. The survey was developed to gather data on XX carriers of numerous X-linked conditions. Results: One hundred and fifty individuals participated in the study. The majority (81/150) of individuals learned about their carrier status by giving birth to a son diagnosed with an X-linked condition. However, over 80% (120/145) believed that they should learn this information before the age of 18. Over 80% of participants (124/148) felt that they either have or may have symptoms attributable to their X-linked condition. Yet, only 10.1% (15/148) felt that they had sufficient access to knowledgeable healthcare providers and/or medical information. Additionally, 46.7% (70/150) of participants reported that healthcare providers did not discuss reproductive options with them. Improving carrier access to medical information, research studies, new treatments, and reproductive methods was found to be the top priority. Conclusion: Limited information exists on X-linked carriers{\textquoteright} risk for symptoms and there is a lack of available treatments. This study demonstrates the need for more knowledgeable healthcare providers and medical information within the X-linked carrier community.",

keywords = "Care management, Reproductive genetics, Symptomatic female (XX) carrier, X-linked condition",

author = "Jennifer Choi and Taylor Kane and Lauren Propst and Sara Spencer and Jamie Kostialik and Aishwarya Arjunan",

note = "Funding Information: The research was conducted as part of a Master{\textquoteright}s thesis project for the Northwestern University Graduate Program in Genetic Counseling. Funding for the study was provided by Northwestern University. We thank the members of Remember the Girls for participating in the survey and sharing it with other X-linked carriers. Publisher Copyright: {\textcopyright} 2021, The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.",

year = "2021",

month = oct,

doi = "10.1007/s10815-021-02270-6",

language = "English (US)",

volume = "38",

pages = "2757--2767",

journal = "Journal of Assisted Reproduction and Genetics",

issn = "1058-0468",

publisher = "Springer",

number = "10",

}

TY - JOUR

T1 - Not just carriers

T2 - experiences of X-linked female heterozygotes

AU - Choi, Jennifer

AU - Kane, Taylor

AU - Propst, Lauren

AU - Spencer, Sara

AU - Kostialik, Jamie

AU - Arjunan, Aishwarya

N1 - Funding Information: The research was conducted as part of a Master’s thesis project for the Northwestern University Graduate Program in Genetic Counseling. Funding for the study was provided by Northwestern University. We thank the members of Remember the Girls for participating in the survey and sharing it with other X-linked carriers. Publisher Copyright: © 2021, The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.

PY - 2021/10

Y1 - 2021/10

N2 - Purpose: To better understand the needs and experiences of the X-linked carrier community to improve future recognition, diagnosis, and treatment by bringing X-linked carrier voices together. Methods: An anonymous survey link was distributed to members of Remember the Girls, a non-profit organization for female (XX) carriers of X-linked conditions, through its website, Facebook group, Instagram, and Twitter. The survey was developed to gather data on XX carriers of numerous X-linked conditions. Results: One hundred and fifty individuals participated in the study. The majority (81/150) of individuals learned about their carrier status by giving birth to a son diagnosed with an X-linked condition. However, over 80% (120/145) believed that they should learn this information before the age of 18. Over 80% of participants (124/148) felt that they either have or may have symptoms attributable to their X-linked condition. Yet, only 10.1% (15/148) felt that they had sufficient access to knowledgeable healthcare providers and/or medical information. Additionally, 46.7% (70/150) of participants reported that healthcare providers did not discuss reproductive options with them. Improving carrier access to medical information, research studies, new treatments, and reproductive methods was found to be the top priority. Conclusion: Limited information exists on X-linked carriers’ risk for symptoms and there is a lack of available treatments. This study demonstrates the need for more knowledgeable healthcare providers and medical information within the X-linked carrier community.

AB - Purpose: To better understand the needs and experiences of the X-linked carrier community to improve future recognition, diagnosis, and treatment by bringing X-linked carrier voices together. Methods: An anonymous survey link was distributed to members of Remember the Girls, a non-profit organization for female (XX) carriers of X-linked conditions, through its website, Facebook group, Instagram, and Twitter. The survey was developed to gather data on XX carriers of numerous X-linked conditions. Results: One hundred and fifty individuals participated in the study. The majority (81/150) of individuals learned about their carrier status by giving birth to a son diagnosed with an X-linked condition. However, over 80% (120/145) believed that they should learn this information before the age of 18. Over 80% of participants (124/148) felt that they either have or may have symptoms attributable to their X-linked condition. Yet, only 10.1% (15/148) felt that they had sufficient access to knowledgeable healthcare providers and/or medical information. Additionally, 46.7% (70/150) of participants reported that healthcare providers did not discuss reproductive options with them. Improving carrier access to medical information, research studies, new treatments, and reproductive methods was found to be the top priority. Conclusion: Limited information exists on X-linked carriers’ risk for symptoms and there is a lack of available treatments. This study demonstrates the need for more knowledgeable healthcare providers and medical information within the X-linked carrier community.

KW - Care management

KW - Reproductive genetics

KW - Symptomatic female (XX) carrier

KW - X-linked condition

UR - http://www.scopus.com/inward/record.url?scp=85111523487&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85111523487&partnerID=8YFLogxK

U2 - 10.1007/s10815-021-02270-6

DO - 10.1007/s10815-021-02270-6

M3 - Article

C2 - 34333720

AN - SCOPUS:85111523487

SN - 1058-0468

VL - 38

SP - 2757

EP - 2767

JO - Journal of Assisted Reproduction and Genetics

JF - Journal of Assisted Reproduction and Genetics

IS - 10

ER -

Not just carriers: experiences of X-linked female heterozygotes

Abstract

Funding

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this