Spinal Muscular Atrophy
Program - Evacuation &
Treatment
There is no treatment for Spinal Muscular Atrophy (SMA) for babies in Ukraine. The mortality rate is over 90% by 12 months of age. The only lifeline to save them is to medically evacuate them to the USA or EU for treatment.
We are that lifeline.
Introduction: SMA & Ukraine
Joint cooperation efforts between our partner organizations
A year and a half after the Russian Federation invaded Ukraine, Ukrainian hospitals are suffering from significant shortage of doctors, medicine and medical supplies. Many doctors are sent in rotations to frontline hospitals to assist with the high casualty rate, leaving a shortage of staff in every hospital. In addition, the consumption of medicine and medical supplies has increased immensely, leaving a scarcity in all regions of Ukraine. Many treatment options are unavailable or no longer available in Ukraine. In particular, children with severe medical conditions are heavily impacted by these effects. One of the treatments that is unavailable in Ukraine is the medication required to treat Spinal Muscular Atrophy (SMA).
SMA is a rare genetic disorder that primarily affects infants and young children. It is characterized by the progressive loss of motor neurons in the spinal cord and brainstem, leading to muscle weakness and atrophy. SMA is caused by mutations in the survival motor neuron 1 (SMN1) gene, which plays a crucial role in the production of a protein called SMN, essential for motor neuron function. Infants with SMA can present with varying degrees of muscle weakness, respiratory difficulties, and impaired motor development. The severity of SMA is often classified into different types based on the age of onset and the clinical features observed:
Type 1 (Werdnig-Hoffmann Disease)
This is the most severe form of SMA and usually manifests within the first few months of life. Infants with Type 1 SMA have profound muscle weakness, poor muscle tone, and difficulty swallowing and breathing. They often require intensive medical support and may have a significantly shortened life expectancy.
Type 2 (Dubowitz disease)
This form typically presents between 6 and 18 months of age. Children with Type 2 SMA experience progressive muscle weakness and motor developmental delays, but they generally have a longer life expectancy than those with Type 1 SMA. Some individuals with Type 2 SMA can learn to sit and even stand with assistance.
There have been significant advancements in the treatment of SMA, particularly with the introduction of disease-modifying therapies. One of the most notable treatments is a drug called nusinersen (Spinraza), which is an antisense oligonucleotide designed to increase the production of functional SMN protein. Nusinersen is administered through spinal injections and has shown promising results in improving motor function and prolonging survival in infants and children with SMA.
In addition to nusinersen, gene therapy has emerged as a revolutionary approach for treating SMA. Zolgensma (onasemnogene abeparvovec) is a one-time gene therapy that delivers a functional copy of the SMN1 gene into motor neurons. This treatment has demonstrated remarkable efficacy in improving motor skills and extending survival in infants with SMA.
Despite these treatment advances, it’s important to note that SMA can still pose significant challenges, and outcomes can vary based on factors such as the severity of the condition and the age at which treatment is initiated. Mortality rates for SMA have improved significantly with the introduction of these therapies, especially for types that were historically associated with very low survival rates. Both of these treatment options are not available in Ukraine. Therefore, the mortality rate for infants suffering from SMA is over 80%.
Medical Evacuations
Many evacuations require respiratory equipment and specialists in order to guarantee the safe transfer of the baby to another hospital.
Our Resettlement and Treatment Program
Our organization provides medical evacuation, resettlement, and facilitates treatment options for the child and their immediate family. We support the family by finding them treatment locations, organizing staff, equipment and medical transport for the evacuation out of Ukraine, assist them with visa applications, document translation, find them a sponsor and provide them a place to live. Each family is personally taken care of and assisted for several months, making this a very time and labor intensive program. However, the results of the treatment are almost miraculous, with babies who have never been previously able to stand on their feet begin walking within a few months!
Our support includes:
- Processing requests from families asking for assistance.
- Evaluate medical documentation with a doctor specialized in pediatric SMA to estimate a prognosis and decide on the next steps.
- Collect, organize and translate all medical documentation and identification papers for the country of destination.
- Identify potential hospitals and clinics that are able to treat the specific type of SMA the patient has.
- Contact the hospitals and clinics to make appointments as timely as possible, as SMA is an progressive genetic disorder among infants.
- Assist the family with visa registration and application for the country of destination. For the United States, this includes finding a sponsoring family.
- Begin planning evacuation routes.
- Find a medical transport and trained medical staff, for example a respiratory therapist, to accompany the evacuation.
- Find accommodation, housing and basic needs for the family upon arrival.
- Provide consultation support and remain the point of contact for the patient’s family for the initial months of the treatment.
Every life counts.
Friends of Be an Angel, Women’s Movement for the Future and the Be an Angel network, have evacuated 23 babies to the United States and various countries in the European Union, where they are receiving life-saving treatment.