Children with a rare congenital genetic disorder: a systematic review of parent experiences

Abstract

Background Caring for a child with a chronic disease may be demanding and stressful. When a child has a rare condition, the impact of care on parents is amplified due to the rarity of the diagnosis. In order to address the lack of generalized and synthesized knowledge regarding parents’ experiences of having a child with a rare genetic disorder, and give a holistic picture of these experiences, a systematic review of the available qualitative research was conducted. Methods We performed a systematic review, including qualitative studies on parents of children with rare genetic disorders, published between 2000 and 2020. Results The review included 33 qualitative studies. Findings were synthesized and categorized according to three main themes: Parents’ experiences with health care, Responsibilities and challenges, and Factors promoting positive experiences in parents. The findings demonstrate that parents of children with rare genetic disorders share many common challenges, despite evident differences across conditions. Conclusion Coordinated care, and a more holistic approach in the follow up of children with rare genetic disorders is needed. International collaboration on research, diagnostics, producing scientific correct and understandable information available for health care professionals and lay people should be prioritized.

Fathers' experiences of living with a child with a progressive life‐limiting condition without curative treatment options: A qualitative systematic review

“…Previous studies have established that marriage can be negatively affected when parents have time‐consuming care commitments (Lazzarin et al, 2018; Sevin et al, 2022). However, our findings, aligned with Von Der Lippe et al (2022), revealed that some fathers gained a more robust relationship with their partners. A possible explanation is the strengthened feeling of togetherness, knowing that someone is facing the same stress (Von Der Lippe et al, 2022).…”

“…However, our findings, aligned with Von Der Lippe et al (2022), revealed that some fathers gained a more robust relationship with their partners. A possible explanation is the strengthened feeling of togetherness, knowing that someone is facing the same stress (Von Der Lippe et al, 2022). In addition to changes in fathers' personal relationships, we found that their perceived social role as breadwinners was challenged.…”

“…The sick child had to come first, and fathers had to establish a new normal. In line with our findings, several studies, regardless of diagnosis or gender, describe parents as establishing a new normal and refer to it as normality reconstruction (Von Der Lippe et al, 2022), finding normal (Bally et al, 2018) and striving for normality (Price et al, 2022). Having a child with a C3 condition is time‐consuming (Lazzarin et al, 2018), and fathers in our review felt isolated, homebound, and as though their personal relationships had changed.…”

Experiences of Health Care and Psychosocial Needs in Parents of Children with Spinal Muscular Atrophy

“…Still, it is essential to capture the experiences of the patient and caregiver with regard to health care and their psychosocial needs in routine care settings; this is in order to obtain optimal health care and to evaluate current practices [ 12 , 13 , 14 ]. Although the experiences of parents living with a child with SMA have been the focus of several studies [ 15 ], experiences in healthcare from the patient’s or family’s perspective have rarely been assessed in the context of SMA, or have only focused on single aspects, e.g., information or treatment decisions [ 16 , 17 , 18 , 19 ].…”

Overcoming Cytosolic Delivery Barriers of Proteins Using Denatured Protein-Conjugated Mesoporous Silica Nanoparticles

“…It reduces off-target delivery beyond that of delivering DNA or RNA-encoded proteins, which rely on the transfection efficacy and the number of gene copies, such as in the ribonucleoprotein delivery for the clustered regularly interspaced short palindromic repeats-associated protein 9 (CRISPR/Cas9) gene editing . Such potential therapeutics offer alternatives against incurable diseases, such as genetic deficiencies of lysosomal enzymes known as lysosomal storage disorders that lead to lysosomal dysfunction. − …”