Two-year-old Muhannad was born with the disease, Spinal Muscular Atrophy (SMA), and he is at the most severe level of the disease, Type 1. SMA is a genetic disease affecting the central nervous system, peripheral nervous system, and voluntary muscle movement (skeletal muscle). The signals from the nerve cells are not received by the muscles, so the muscles get small and useless. This disease is the number one genetic cause of death for infants, caused by a mutation in the survival motor neuron gene 1 (SMN1). His parents are from Syria but have lived in Turkey for four years. Muhannad has been on respirators since his birth just to stay alive. He lives in an intensive care room in their home, where his parents care for him around the clock. He needs constant treatment to survive as he cannot swallow or eat on his own and needs phlegm and saliva to be sucked from his mouth with a respirator. His food is given to him every three hours, through a mouth tube and a tube that goes into his stomach. His father, Firas Alabbar, works full time (five days a week) as a tailor and then shares caring for the child with his wife when he gets home from his 10-hour workday, and on the weekends as well. The parents take turns caring for the child for three hours while the other one sleeps, and then they trade. Muhannad needs to have his mouth suctioned, to be fed, and to have a full body massage to avoid stiffening which occurs with the disease. The parents are not even able to leave the house at the same time as Muhannad needs constant care and supervision to stay alive. The father puts cartoons on a phone they keep near Muhannad to entertain him, as his brain is healthy, it’s his body that cannot move. He has no deformation in his body, he looks like a normal, healthy child but has not been able to move on his own since birth. Muhannad gets annoyed at the advertisements which interrupt his cartoons on YouTube. He loves to watch his favorites: the Teletubbies, the Smurfs, and Masha and the Bear. He watches the programs all day until he falls asleep. There are now treatments for the disease, approved in the United States. His father, Firas found the treatments online but has no money for such expensive cures. One of the treatments, Spinraza (nusinersen), was approved in 2016 by the U.S. Food and Drug Administration (FDA) to help slow or stop the symptoms of SMA by fixing the underlying defect. Then in 2019, the U.S. FDA approved Zolgensma (onasemnogene abeparvovac-xioi) as a gene-replacement therapy. This requires a one-time intravenous (shot into the vein) infusion, but this is for children younger than two years, so it may not be an option for Muhannad. The newest treatment, Evrysdi (risdiplam), a medicine taken by mouth, was finally approved this month (August 2020). The clinical trials were so promising, with 81% of the patients being able to go off their ventilators after two years of treatments. If anyone can help get this family in touch with the makers of this drug, or hospitals in Turkey, the EU, or the USA that can help provide this medicine to Muhannad, please reach out. Our prayers are with Muhannad and his parents.
