In my country, a lot of money is collected for the treatment of a girl who suffers from a very serious disease, the so-called Spinal Muscular Atrophy. That is why I researched a little more about this disease, and I will transfer my knowledge to this article.
Fortunately for all parents whose child suffers from the mentioned disease, a MEDICINE has appeared that can help children overcome this vicious disease!
Namely, Spinal Muscular Atrophy (SMA) is a rare but progressive and deadly neuromuscular disease. Children with SMA are born without the SMN1 gene, and the disease is manifested by gradual but progressive muscle atrophy and loss of basic vital functions, such as walking, digestion, swallowing and breathing. SMA does not affect brain and cognitive functions. Moreover, research has found that sufferers are often of above-average intelligence and very sociable. SMA is the number one genetic killer of children up to two years of age.
SMA is transmitted by an autosomal recessive route, which means that both biological parents must be carriers of the recessive gene for SMA in which case they have a 25% chance of transmitting the disease to their child. Carriers of responsive genes are completely healthy and do not know how to possess that gene. One in 40-60 people is a carrier of the SMA gene. One in 10,000 newborns is born with SMA. People whose child is born with this fatal disease do not have a family history of spinal muscular atrophy, they have never heard of this disease, and they find out that they transmitted it to their child only after the child's diagnosis, through genetic analysis of blood. The disease is equally present in all races, nationalities and genders.
People who are not carriers of this disease have 2 SMN1 genes and usually 2 SMN2 genes. Carriers of SMA disease have only one SMN1 gene and several copies of the SMN2 gene. Since only one SMN1 gene produces 100% of the survival motor neuron (SMN) protein, which is vital for maintaining the motor neurons and nerves that control muscles, a second copy of the SMN1 gene is redundant. However, in 25% of cases, the carriers of SMA do not transmit any copy of the SMN1 gene, and thus a child is born with spinal muscular atrophy. In 50% of cases, carriers of the SMA gene transmit one copy of the SMN1 gene, and have children who are carriers of the disease, but asymptomatic (no disease / no symptoms). In 25% of cases, SMA carriers carry two copies of the SMN1 gene found, and these children are not even carriers of the disease. Due to this genetic mechanism of transmission, this insidious and vicious disease spreads through families and generations unnoticed, until a child with SMA is born.
Conclusion: children suffering from this terrible disease are born without the SMN1 gene and that is the cause of Spinal Muscular Atrophy. They have several copies of the SMN2 gene that produce only 10-30 percent of the deformed and non-functional protein. The presence of this protein keeps them alive, but in no way can it compensate for the lack of the primary SMN1 gene. Over time, the level of this non-functional protein in the body decreases, which leads to progressive muscle atrophy, loss of function, paralysis and death.
SMA is first manifested by clinical symptoms. The definitive diagnosis is determined by a genetic blood test. The status of the carrier in the parents and siblings of a sick child is also established by a genetic blood test.
There are four basic types of SMA: type 1, 2, 3 and 4. The type of SMA is determined based on the age of the patient at the time when the disease manifested itself and the highest achieved stage of development.
SMA TYPE 1 - Werdnig-Hoffmann
Type 1 is the most severe form of SMA. It is usually diagnosed in the first six months of life. Babies with SMA type 1 can never sit on their own. Progression is extremely rapid and acute. Symptoms such as muscle weakness and poor body mobility, problems with digestion, swallowing, breathing and coughing usually appear soon after birth. These children are terminally ill and need a feeding tube, breathing apparatus, coughing device, etc. The life expectancy of type 1 children is up to two years of age. Until that period, these children develop total paralysis, and even lose the opportunity to laugh. With the help of mechanical ventilation, they can live longer than two years, but they require constant and intensive care. 60% of all SMA patients are type 1. Although this is the most common type, it is not the most common due to the high mortality rate.
SMA TYPE 2 - Dubowitz
Type 2 is usually diagnosed between 6 months and up to 2 years of age. Most often, the first signs are a delay in achieving developmental milestones or their complete absence. Children with type 2 can generally sit without support, although they usually need help to take a sitting position, but they can never walk on their own. Over time, they become weaker. There is progressive muscle atrophy, loss of the ability to sit independently, hold the head, use the hands, swallow and breathe. At some point, they begin to require a feeding tube, breathing machines, spine and hip surgeries due to scoliosis and deformities, and constant and intensive care.
SMA TYPE 3 - Kugelberg-Welander
Type 3 is usually diagnosed after 18 months of age, and before the third year. In some cases, type 3 can be diagnosed in late adolescence, if the symptoms started later or were milder in the beginning. Type 3 children can walk on their own. Over time, they become weaker, muscles atrophy and functions begin to be lost. In some period, they completely lose the ability to walk, feel progressive weakness and limited mobility of the arms and legs, have problems with digestion, swallowing and breathing. Many type 3 sufferers also require breathing and coughing devices, spinal and hip surgery for scoliosis and deformities, as well as various types of physical assistance on a daily basis to be able to function.
SMA TYPE 4
Type 4 is very rare. It mainly manifests itself in adulthood and causes mild motor difficulties. Although symptoms can appear after the age of 18, they usually appear only after the age of 35.
Unlike many other severe genetic diseases, the genes that cause Spinal Muscle Atrophy are known, as are the processes in the body that occur as a consequence. This allows researchers to focus precisely on modifying the genetic deficiency, thus stopping the progression of the disease and improving body functions, and to help patients have a better quality of life and longer life expectancy. Most research is working to stimulate the SMN2 gene to produce as much functional protein as possible. There is also a study that deals with the injection of a non-existent SMN1 gene. At the moment, a drug called Spinraza is the FIRST and ONLY drug for spinal muscular atrophy. The approval of Spinraza by the FDA and the EMA finally gave hope to the patients and their families. Spinrase acts on the SMN2 genes and has proven to be a very effective therapy for types 1, 2 and 3 who participated in the study and those who received the drug after FDA and EMA approval.
The medicine showed incredible results. Spinraza stops the progression of the disease and gives a cure. In the first year, the patient receives six injections of spinraza, and in each subsequent three (every four months), for the rest of his life. It creates copies of SMN2 genes that produce a functional protein that affects motor neurons that affect muscles.
I am asking all people of good will who are able, to help parents financially who need money to treat their children, because the medicine is very expensive, from 700,000 to 2.5 million euros, depending on the type of disease.