Caregivers of patients with Spinal Muscular Atrophy (SMA) report neglected aspects of their lives.1 Caregivers will need different kinds of support depending on factors such as the specific type of SMA their child has, whether they have other children, whether they intend to have future pregnancies, their socioeconomic status, and how extensive their social support network is. Awareness of the family’s support needs is a prerequisite to addressing them.2
The need to provide effective coping mechanisms and emotional support to caregivers can begin before the patient’s birth. Professional medical organizations recommend identification of potential SMA gene carriers and prenatal testing with counseling for a pregnancy involving parents with confirmed carrier status.3 Decisions regarding pregnancy will require expert knowledge and informed counseling.4 Individuals who desire pregnancy but are carriers of SMA genetic variants may elect to pursue preimplantation testing of embryos, donor egg/sperm, or surrogacy and need to be supported in this personal choice by professionals with expert knowledge of SMA.5 When prenatal testing reveals a diagnosis of SMA, parents may face a dilemma regarding continuing the pregnancy, a decision made more complicated with the recent approval of effective SMA therapy.5
Families want more efficiency in the diagnosis of SMA.6 When the diagnosis of SMA is made, caregivers need support beginning early in the course of the disease and as much time as possible to prepare for a child with significant disabilities.6 Healthcare providers need to be attentive to the child’s needs to guide the caregivers proactively in matters such as respiratory problems, pain, and feeding.1 Parents want healthcare providers to have evidence-based knowledge of SMA and to educate themselves if they do not.1 Continuing education programs for caregivers in applied skills like routine ventilation care are helpful in SMA.7
Caregivers report stress and lack of sleep as part of the impact of living with a patient with SMA. Periodic overnight relief or appointment of a care coordinator are especially helpful measures in supporting caregivers of patients with SMA.1 Families express frustration with limited social opportunities for them and their children because of social stigma, lack of expert caregiving to relieve primary caregivers and because of poor handicap access in community spaces.6,8,9 When SMA is fatal, caregivers will experience significant longitudinal psychological pain and need support with grief counseling and psychiatric care.10,11
Caregiving is expensive for families both in terms of money spent to obtain expert care but also in time spent by family members assisting patients with activities of daily living.12,13 Early access to medical care assistance and money designated to help chronically ill child is critical to patients with SMA having a high quality of life.6,14
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3. Committee opinion no. 691: Carrier screening for genetic conditions. Obstet Gynecol. 2017;129(3):e41-e55.
4. Carre A, Empey C. Review of spinal muscular atrophy (SMA) for prenatal and pediatric genetic counselors. Journal of genetic counseling. 2016;25(1):32-43.
5. Tizzano EF, Zafeiriou D. Prenatal aspects in spinal muscular atrophy: From early detection to early presymptomatic intervention. Eur J Paediatr Neurol. 2018.
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7. Boroughs DS. An evaluation of a continuing education program for family caregivers of ventilator-dependent children with spinal muscular atrophy (SMA). Children (Basel, Switzerland). 2017;4(5).
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10. Di Pede C, Agosto C, De Tommasi V, De Gregorio A, Benini F. Symptom management and psychological support for families are the cornerstones of end-of-life care for children with spinal muscular atrophy type 1. Acta Paediatr. 2018;107(1):140-144.
11. Wender E. Supporting the family after the death of a child. Pediatrics. 2012;130(6):1164-1169.
12. Klug C, Schreiber-Katz O, Thiele S, et al. Disease burden of spinal muscular atrophy in germany. Orphanet journal of rare diseases. 2016;11(1):58.
13. Lopez-Bastida J, Pena-Longobardo LM, Aranda-Reneo I, Tizzano E, Sefton M, Oliva-Moreno J. Social/economic costs and health-related quality of life in patients with spinal muscular atrophy (sma) in spain. Orphanet journal of rare diseases. 2017;12(1):141.
14. Farrar MA, Carey KA, Paguinto SG, Chambers G, Kasparian NA. Financial, opportunity and psychosocial costs of spinal muscular atrophy: An exploratory qualitative analysis of australian carer perspectives. BMJ Open. 2018;8(5):e020907.