Choosing Life with Spinal Muscular Atrophy Type 1
- PDF / 241,670 Bytes
- 6 Pages / 595.276 x 790.866 pts Page_size
- 88 Downloads / 194 Views
COMMENTARY
Choosing Life with Spinal Muscular Atrophy Type 1 Moran Lavie . Hodaya Nisnkorn . Liora Sagi . Israel Amirav
Received: March 16, 2020 Ó The Author(s) 2020
ABSTRACT This article is co-authored by the mother of a patient with spinal muscular atrophy (SMA), two pediatric pulmonologists and the pediatric neurologist in the team. It describes the patient and their family’s experience of living with SMA. This commentary describes the mother’s experience of the diagnosis and treatment process of her daughter’s SMA in an era of emerging treatments for a disease which was until recently considered incurable. SMA diagnosis and management in the context of the patient mother’s experiences is discussed.
Keywords: Antisense oligonucleotide; Intrathecal injections; Motor neuron disease; Nusinersen; Spinal muscular atrophy Key Summary Points Spinal muscular atrophy 1 (SMA1) is a devastating neuromuscular disorder. The past 2 years have witnessed dramatic changes with the introduction of 2 new treatments for SMA. We present here an account of a true team effort to provide urgent, lifesaving treatment for a baby girl with SMA1. This is the story of how a partnership of a family and a medical team was, and still is, the driving force that made all the difference.
Digital Features To view digital features for this article go to https://doi.org/10.6084/m9.figshare.12074715. M. Lavie (&) H. Nisnkorn I. Amirav Pediatric Pulmonology Unit, Dana-Dwek Children’s Hospital, Tel-Aviv Sourasky Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel e-mail: [email protected]; [email protected] L. Sagi Pediatric Neurology Institute, Dana-Dwek Children’s Hospital, Tel-Aviv Sourasky Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
PATIENT’S EXPERIENCE: MOTHER’S PERSPECTIVE When Daria was born, a third daughter for Gil, my husband, and me, what struck me most about her was her profound desire to communicate with others. She smiled at a very early age. She used to look around and make funny
Adv Ther
noises whenever people were nearby. She was a beautiful, happy baby girl and it was a very happy time for our family. When Daria was around 2 months old, her grandparents started pointing out that she was having trouble moving her arms and turning and raising her head. I also noticed that she had increasing difficulty with breast feeding. Shortly afterwards, at 5 months of age, following a thorough investigation, she was diagnosed with spinal muscular atrophy (SMA1). How do parents feel when they are told that their beautiful, expressive, cheerful baby girl is suffering from a devastating disease for which there is no cure? That she will gradually yet swiftly lose her ability to move, babble and breathe? That she will lose her ability to eat without choking, and that she will probably die before reaching her second birthday? The earth slipped away from under my feet. I felt completely helpless. Suddenly, a dark cloud cast a shadow over our lives. My husband and I we
Data Loading...
