Spinal muscular atrophy type 3. Spinal muscular atrophy in children
What to do when your child is diagnosed with a fatal diagnosis (SMA) and there is no help from either the state or funds
Zlata's birthday. 2 years.
Meeting in the park. Blush on cheeks
Relatives of 2 year old Zlaty OVERCHUK not every day, but they regularly take the girl out for a walk. Parks, squares, flat areas in the mountains - any place convenient for moving with a stroller. Therefore, when we agree on an interview, they are ready to drive up to the square not far from the editorial office. To unload a specialized wheelchair, an expectorator and a portable artificial lung ventilation (ALV) device with a pulse oximeter that shows the heartbeat and oxygen saturation from the car, and then put and connect the daughter, at the mother's Hope Yatsenko takes 10-15 minutes.
Pupa. There are simply no other words when you look at a motionless girl in a stroller. She looks at you carefully, but does not smile or laugh. If only eyes. As her relatives say: completely intact intellect, only the body cannot move. She also watches cartoons with pleasure, her favorite is Masha and the Bear. Her porcelain face during the walk will be covered with a slight blush - from the sun. When we turn into one of the alleys where the sun hits her eyes, her mother will put sunglasses on her. In this form, a neatly dressed girl, whose tracheostomy in her throat is hidden under the collar of an elegant gray cardigan, cannot be distinguished from other children, of which there are many. But just a few minutes ago, their parents looked in our direction with surprise and fear. And they passed, accelerating their pace ...
Having heard the story of a girl diagnosed with SMA - spinal muscular atrophy, it seems that most of the doctors and officials that her relatives have turned to for help since December 2016 did exactly the same. They quickened their pace. And they didn't help. With this diagnosis, a person from birth has progressive muscle weakness and atrophy of muscle fibers due to damage to motor neurons (motor nerve cells) in the spinal cord or brain. With this disease, every second child does not live up to 2 years. The fact that Zlata managed to cross this line is probably the merit of her relatives and the quality care they organized. From the state, their family was given free diapers only 2 times. And recently, a response came from the Ministry of Health that the only medical assistance they can count on is physiotherapy exercises.
There is a cure for SMA. At the end of September 2017, Italy became the first country in the world to treat its citizens for free. The medicine was invented in 2015, in 2016, after testing was completed, it went on official sale.
There is a cure for SMA. At the end of September 2017, Italy became the first country in the world to treat its citizens for free. The medicine was invented in 2015, in 2016, after testing was completed, it went on official sale. You can get treatment on a commercial basis in Germany - the Freiburg University Hospital is ready to accept Zlata. The cost of one ampoule of medicine is almost 90 thousand euros, the cost of the course of treatment in the first year, which is 8 ampoules, is 702 thousand euros. The second will need another 3-4 ampoules. Thus, more than a million euros. So far, 4,000 euros have been collected. Pages on social networks and even two stories on the air of KTK (April 10, 2017 - the release of "I'm dancing inside" in the Main Edition program and September 26, 2017 - evening news) did not help. No receipts from strangers. All of the above are from friends and friends of friends. Zlata's relatives - an accountant and an architect - understand that the amount is huge, but the search for money continues.
On a walk Nadezhda YATSENKO, 34, accountant, mother of Zlata
How we were diagnosed with SMA
“My pregnancy was very difficult. From the first days I had severe toxicosis, the pressure increased all the time, and from 6 months - thrombophlebitis. I had to take serious drugs, put injections in my stomach so that there would be no premature birth. Due to placental abruption, I had an emergency caesarean section.
Zlata was born at 33 weeks. She weighed 1582 grams with a height of 40 centimeters. She spent 10 days in intensive care. At the same time, jaundice appeared. I myself had to look for a lamp in the maternity hospital and pay the medical staff for its use, since there were only 3 lamps, and there were many children. When we were discharged, everything was relatively in order: they prescribed drugs for hypoxia and to restore the liver. Soon, in the clinic, we received the first BCG vaccination and were prescribed the first massage. After a massage at the age of 2 months, Zlata stopped moving her legs altogether. Many babies are already trying to hold their heads by 2 months. The fact that she did not succeed, the doctors attributed to prematurity. It was scary that after the massage and like that.
She was the first to suspect that Zlata had type 1 SMA,. She sent us to take a lot of tests. Zlata also underwent an MRI of her head under gentle anesthesia (the mask is removed - the child immediately regains consciousness).
We went to the doctors. One well-known pediatrician, whose appointment costs 20 thousand tenge, said that we have a “sluggish child”. She was the first to suspect that Zlata had type 1 SMA, neurologist Irina Borisovna KRAVCHENKO. She sent us to take a lot of tests. Zlata also underwent an MRI of her head under gentle anesthesia (the mask is removed - the child immediately regains consciousness). Since the child is very small, we were refused everywhere. Only one clinic agreed. The procedure lasting 10 minutes cost us 68 thousand tenge. My husband and I took a DNA test: the disease is genetic, it manifests itself if both parents are carriers of the gene.
We also underwent ENMG - needle analysis (piercing the body with needles to understand where nerve impulses reach). Zlata was then 3 months old, although usually it is done not earlier than 5. Small impulses were only on the fibula, everything else was without reaction. So, at 4 months we were diagnosed with SMA1. I am telling in such detail not because I am complaining, but so that you understand that there are no protocols for diagnosing SMA in Kazakhstan and parents go all the way on a whim.
We learned from doctors that there is a drug in St. Petersburg that shows good results in SMA. We started searching. The professor-inventor died, and his student said that valprates are not suitable for SMA1, they can only spoil the child's liver. On her recommendation, we took drugs that are indicated for exhaustion of the body.
What complications arose
– At the age of 5 months, Zlata developed obstructive bronchitis. When we were taken away by ambulance, she was suffocating and turned blue. We were hospitalized in the same room with a child diagnosed with pneumonia. I think that this is what led to further events. For 3 days they didn’t inject anything, didn’t prescribe anything, the sputum didn’t go away. Turns out it needed to be sanitized. For 5 days, she descended into the lungs: due to the idle muscles of the throat, coughing and natural expectoration of sputum are impossible. From the very beginning and until resuscitation, we were in the general ward, although we promised to give a separate one, because we knew our diagnosis. Three days later, an x-ray showed pneumonia. They began to treat us in the same way as conditionally healthy children. And the next day, Zlata was in intensive care. Doctors told me that such children do not live long. It was probably only then that I fully realized how dangerous my daughter's diagnosis was. The worst thing is that no one knew how to treat it.
Then Zlata had a tracheostomy. If it weren’t for bronchitis and pneumonia, you can live with this diagnosis with a mask on a NIV device. And with these diseases, she can no longer breathe without a hole in her throat. We also needed a cough suppressor. Officially in Kazakhstan, with a guarantee, it can be bought for 5.5 million tenge. In Russia, the cost of the device is 2 times lower.
Then Zlata had a tracheostomy. If it weren’t for bronchitis and pneumonia, you can live with this diagnosis with a mask on a NIV device. And with these diseases, she can no longer breathe without a hole in her throat. We also needed a cough suppressor. In Kazakhstan, officially, with a guarantee, it can be bought for 5.5 million tenge. In Russia, the cost of the device is 2 times lower. By detours, we were able to buy it in Russia. This was the first time we turned to Kazakh charitable foundations for help. Almost everyone refused us with the wording that they do not help pointwise, but strive to do it systematically - to buy equipment for hospitals, for example. Their position is understandable, but when no one around is ready to help you, it's terrifying.
The only one who helped us was Head of the Dara Charitable Foundation Gulnar DOSAEVA. She is my former boss, before pregnancy I worked in the fund as the chief accountant. Therefore, we can say that they helped me as an employee. I know all the charitable kitchen, I personally know many heads of foundations, so it’s impossible to say that we asked in the wrong place and in the wrong way.
While the expectorant was being transported, pneumonia became bilateral, and the child's nasal septum was also broken. From the moment she was admitted to the intensive care unit, she breathed through an endotracheal tube in her nose. Probably, during the next replacement of the tube, the septum was broken. Now any manipulations can be done only through the left nostril. The expectorator removes not only sputum, but also acts as a saliva ejector - salivation in children with SMA is impaired.
Also thanks to caring people, Gulnar DOSAEVOY and family Olga and Evgenia KOKORKIN, we purchased two portable ventilators. The second appeared when the first failed and Zlata's breathing for several hours we alternately supported with the help of the Amba bag - a manual ventilator.
What can you hope for
– Current expenses, which are 300-350 thousand tenge per month, for the care of Zlata, our family covers itself. For example, the amino acid nutrition she needs costs 15,000 tenge per jar. It is not sold in Kazakhstan. Therefore, we are looking for ways, opportunities, how to order and bring it here. We also buy components and consumables for two ventilators ourselves. They work around the clock. I do manipulations every 15-20 minutes, I wake up 3-4 times at night. Therefore, a lot of consumables are required. By the appearance of my daughter, by her breathing and pressure (the device shows that the saturation is falling), I determine that she needs to clear her lungs of sputum.
When we learned about the existence of the drug, we understood that it would be expensive. Thought, 10-20 thousand euros. But when they found out that it was 90 thousand euros, and 12 injections were needed in 2 years, they were shocked. For us, this is an astronomical sum!
One of the effects of the medicine we are raising money for is to reduce sputum production. It also somehow compensates for the deficiency of protein, the absence of which leads to atrophy of muscle fibers. In children, it can be used from birth. In the West, SMA is able to diagnose immediately. Children under the age of 7 months were taken for testing - by the age of 2 they ate and walked independently. When we learned about the existence of the drug, we understood that it would be expensive. Thought, 10-20 thousand euros. But when they found out that it was 90 thousand euros, and 12 injections were needed in 2 years, they were shocked. For us, this is an astronomical sum!
So far, we are raising money for the first year of treatment (702,000 euros) with the hope that the medicine will become cheaper and will become available to us, Kazakhstanis in any way. The only catch is that almost no children with tracheostomy were taken to experimental therapy. But we hope that over time Zlata will show good results, learn to breathe on her own, hold her head, eat, move her legs and arms and, of course, stand and walk. It's all in God's hands. But so far everything is decided by money, which we do not have. And time is running very fast.
The medicine was invented by a French scientist, but he did not have enough money to complete the work. Therefore, two pharmaceutical companies bought the rights, finalized it at their own expense and tested it in the USA, Japan and European countries. In the United States, it went on official sale last year, in Europe - since April of this year. We made requests for treatment to Italy, Germany, Belgium. They didn’t do it in the USA, because the road is long and for Zlata several flights can be deadly. The only ones who billed us, that is, are ready to host us, are the Germans. I know that in Italy three Russian families receive treatment free of charge. Probably, the matter is in good diplomatic relations between the countries. For Kazakhstanis, there is no such opportunity.
There are no official statistics on how many children with SMA are in Kazakhstan. According to our data, and we learn mainly about children who have passed away, over the past 1.5 years, 5 children have passed away: 4 with SMA1, 1 boy with SMA2. There are still undiagnosed cases: in one mother, the first child died of an unknown cause at the age of 7 months, the second baby, born later, has already been diagnosed. There are no protocols for treatment and assistance to such children in Kazakhstan either. In September, a letter arrived, where instead of medical care, we were recommended exercise therapy. We consider this a mockery. For a girl whose arms and legs do not move at all, exercise therapy is recommended! We learn some things through the Russian internet forum for families with SMA, smanewstoday.com and spinraza.com. We carefully translate all materials, links to which are published there, in order to understand what is happening with the child.
The probability of having a child with SMA in parents who carry genes is 25%. Now there is an analysis that can detect the disease in utero. But I don't dare to have another child. We are Orthodox. I won't be able to have an abortion if SMA is confirmed. And living with such a disease today is something that no mother would wish for her child.
Everyone, both charitable foundations and ordinary people who have heard about our trouble, has one question: “Is it completely curable?” And what can we say if the drug has been experimentally used for 2 years? There are significant improvements, but how it will be further is unknown. For parents, this is no reason to give up the belief that their child will live.
Facts about SMA:
According to the US Department of Health, SMA is diagnosed every year in 1 in 10,000 newborns. Such tiny groups of patients are called "orphans".
The price is "outrageously high" (the words of a Washington Post journalist) even for Americans. There, the drug costs 125 thousand dollars. Insurance companies cannot cover drug costs. Parents' chance for treatment appears when they sign an agreement with a pharmaceutical company: treatment is provided in exchange for participation in marketing activities. Italian families participating in experimental treatments are also required to post regularly about treatment progress.
It is now known that SMA research has led to improved scoliosis management, nutrition, and respiratory support. Also, children can start talking and laughing.
For newborns with SMA1, long-term survival was made possible by nutritional support and ventilation, but did not improve motor development. In patients with less severe types of diseases, the level of care for them has an effect on slowing the progression of the disease.
Patients with SMA, with high-quality care and the absence of other diseases, can survive into adulthood. They move independently or with the help of other people in a wheelchair.
For patients with SMA at home, a set of 7 units may be needed. Minimum required: pulse oximeter, ventilator, sputum aspirator, oxygen concentrator.
In the summer of 2017, Russian publications wrote about a 28-year-old man suffering from SMA and unable to move, who was found guilty of armed robbery in the case of kidnapping a motor scooter. The court sentenced the invalid, who is almost completely paralyzed and weighs about 20 kilograms, to four and a half years in prison. The man has a higher education and a family, is engaged in charity work. After the intervention of the media and human rights activists, he was released.
Requisites
Contact number:
8 702 201-31-23 Nadezhda Yatsenko (mother)
Margarita YURCHENKO (aunt)
SBERBANK RUSSIA
Beneficiary Yurchenko Margarita Viktorovna
Account No. 40820810738257007049
BIC 044525225
Cor. account 30101810400000000225
Gearbox 773601001
TIN 7707083893
OKPO 57972160
PSRN 1027700132195
Megaphone +7 925 934-50-64
QIWI wallet +7 777 270-99-28
JSC "Kazkommertsbank"
card No. 5483 1828 4596 3538, KZ97926020P555005244
Yatsenko Nadezhda, IIN 830 308 400 935
JSC "ATF Bank"
Card No. 4052 5660 0023 8922, KZ89826A1KZTW4013367
Yurchenko Margarita, IIN 780 224 403 298
The Bank Of New York Mellon,
SWIFT IRVTUS3N New York, USA
Whether you have a family member or represent a friend, your interest is likely based on the fact that you or someone you care about is waiting for a diagnosis of spinal muscular atrophy (SMA) or has been diagnosed with SMA.
The main problem for such people is the information vacuum, the lack of qualified doctors.
This review attempts to highlight some important points. Only the main issues are covered here, the range of tasks for solving the SMA problem is outlined. Despite the fact that this is a rare disease, the whole world is striving to find a cure, because every human life is invaluable and important. Recently, though small, but the chance for effective therapy has appeared, and soon a big breakthrough of research groups in obtaining sustainable results is expected.
Spinal Muscular Atrophy (SMA or SMA)- disease of the neurons of the anterior horns of the spinal cord, located in the spinal cord. SMA affects the muscles responsible for activities such as crawling, walking, head support, neck control, and swallowing control. The proximal muscles are mainly affected, or in other words the muscles closest to the trunk, in this case closest to the spine. Weakness in the legs is generally greater than weakness in the arms. Sensitivity is normal, as is intellectual activity. In fact, it is often observed that SMA patients are unusually bright and outgoing.
Let's take a look at the short facts:
SMA (Spinal Muscular Atrophy) is one of the most common genetic disorders (despite its rare occurrence);
Spinal muscular atrophy of childhood is inherited in an autosomal recessive manner.
The spinal muscular atrophy gene is mapped to chromosome 5 q11 .2 - 13.3;
A candidate gene causing the development of SMA was identified in 1995 and given the designation SMN (survival motor neuron);
One in 6,000 babies is born with SMA;
50 percent of diagnosed children do not live past the age of two;
SMA can affect at any age;
One in every 40 people carries the gene that causes SMA;
A child of two carriers may be affected with a 25% chance or in one in four births. Both parents carry a single defective gene but are protected by the presence of a normal gene, which is generally sufficient for normal body function. Two defective copies of a gene are required to produce a gene disorder. Each child has a 50 percent chance of being a carrier like both parents and a 25 percent chance of inheriting the gene disorder;
Spinal muscular atrophy in children was first described by G. Werdnig in 1891. G. Werdnig presented a clear description of the pathomorphological changes in various muscle groups, peripheral nerves and spinal cord, noting the symmetrical atrophy of the cells of the anterior horns of the spinal cord and anterior roots. In 1892, J. Hoffmann substantiated the nosological independence of the disease. Later, G. Werdnig and J. Hoffmann (1893) proved that the cause of the disease is the degeneration of the cells of the anterior horns of the spinal cord. In 1956, E. Kugelberg and L. Welander identified a new nosological form of spinal muscular atrophy, which was characterized by a later onset and relatively benign course compared to that described by G. Werdnig and J. Hoffmann.
The main classification adopted to describe SMA.
Type 1, or Werdnig-Hoffmann disease, is the most unfavorable form of SMA.
Children tend to be weak and lack motor development, have difficulty breathing, sucking and swallowing. Type 1 SMA affects babies between birth and six months of age.
Type 2 slightly less unfavorable.
Patients may be able to sit without support, or even stand with support, and usually do not suffer from eating. However, they have an increased risk for complications from respiratory tract infections. Type 2 SMA affects children between seven and 18 months of age.
Type 3, also known as Kugelberg-Welander disease, is the least fatal form of childhood SMA.
The patient is able to stand, but there is extensive weakness and a tendency to end up in a wheelchair. Type 3 SMA strikes after 18 months, but may even appear in adulthood.
Type 4 is an adult form of the disease in which symptoms tend to begin after age 35.
The symptoms usually start in the hands, feet, and tongue, and spread to other areas of the body.
Adult X-Linked Onset SMA, also known as Kennedy Syndrome or Bulbar Spinal Muscular Atrophy, occurs only in adults. The facial muscles and muscles of the tongue are markedly affected in this disease. In addition, these people also often have an enlargement of the chest, known as gynecomastia. Like all forms of SMA, the prognosis of the disease is variable but generally tends to progress slowly.
What happens in SMA and what is the way to solve the problem?
Spinal muscular atrophy is a disorder that affects motor neurons.
SMA is caused by a mutation in a piece of DNA called the SMN1 gene, which normally produces the SMN protein. Due to a gene mutation, people with SMA produce less of the SMN protein, which results in the loss of motor neurons. SMA traits can be improved by increasing the level of the SMN protein. The aim of the current studies is to determine if any drug can increase SMN levels. Among the advanced research groups are the USA, Germany, Italy. Promising results have been obtained and clinical trials are underway.
What future parents need to know who want to have a child or already have a child diagnosed with SMA? Ask your consultant physician about the possibility of conducting a molecular genetic analysis to establish the alleged carriage of the defective gene. In addition, prenatal diagnosis is needed in early pregnancy (usually up to 14 weeks). Remember that you are responsible for the health of the unborn child.
In conclusion, it should be noted that patients with SMA need special dietary nutrition, supportive care, and many other caregiving activities. The number of questions is growing like a snowball - only an experienced doctor can help you navigate all the problems.
To unite patients with spinal muscular atrophy (SMA) in Ukraine, an opening was initiated Charitable Foundation for Parents of Children with Spinal Atrophy.
SMN-associated SMA, or 5qSMA, or proximal SMA is generally classified into three categories. It is conditionally possible to single out CMA0 (zero) and CMA4. Thus, there are several main types of SMA, and they all proceed differently. The process can develop at different periods of life, have its own clinical features, its own course, prognosis, and the necessary amount of help and support.
Type 1– the heaviest, with the earliest debut, type 3- the least severe, with a late age of onset. Some experts distinguish another type 4 to denote moderate or mild SMA with onset in adulthood.
The specificity of the disease is that in each child, even within the same group, SMA proceeds differently, individually. Outwardly, this is manifested in the possible range of movements - some children are able to hold their heads, raise their arms a little and raise their legs, while others simply lie in the classic “frog” position and can only slightly move their feet and fingers.
Victor Dubovitz, one of the luminaries in the field of SMA management, in the 90s suggested using a more complicated scale in addition to the usual classification. For example, there is CMA1 and its subtypes will be 1.1, 1.2, 1.3, i.e. from 1.1 to 1.9. This scheme is used in Italy.
The American system is based on the ABC scale, where B is the classic type, A is the weak type, and C, respectively, is the stronger type. The system with ABC subtypes clearly describes the SMA clinic and allows you to select maintenance therapy for the child depending on the subgroup and the corresponding prognosis. This system is beginning to be used in Russia and other countries.
Important! A genetic test does not determine the type of SMA. The type is set based on the functionality of the child.
CMA0
Symptoms of the disease manifest themselves in utero in the absence of motor activity in the fetus. Since birth, the child has expressed generalized muscular hypotension with a characteristic “frog” posture, spontaneous motor activity has been sharply reduced. Tendon reflexes are not elicited.
As a rule, these children are observed by pediatricians and neurologists for a long time with a diagnosis of perinatal encephalopathy. Sometimes doctors associate the symptom complex of a sluggish child with a difficult birth. But all children with perinatal encephalopathy and with the consequences of difficult labor adapt quickly and well, gradually improve, unlike children with SMA.
The prognosis is extremely unfavorable - children die, as a rule, at a very early age (up to six months) from intercurrent diseases (complicating the course of the underlying disease).
Usually CMA0 and CMA1 are combined.
CMA1
With type I spinal muscular atrophy (Werdnig-Hoffmann type) mother already during pregnancy can pay attention to the late and weak movement of the fetus. From birth, the child has a widespread decrease in muscle tone (the "sluggish baby" syndrome). From the first months of life, weakness and atrophy of the muscles of the upper and lower extremities appear, followed by involvement of the muscles of the trunk and neck. Such muscle changes lead to the fact that children cannot sit. Muscle atrophy and twitching of muscle fibers are usually masked by well-defined subcutaneous fat. A characteristic symptom is a small trembling (tremor) of the fingers of outstretched pens. Sometimes twitching of the muscles of the tongue is found.
A typical symptom is also the weakening or complete disappearance of tendon reflexes (knee, Achilles), limitation of normal mobility in the joint, skeletal deformities. Due to the weakness of the intercostal muscles, the child's chest becomes flattened. Since as a result of muscle weakness there is not sufficient ventilation of the lungs, frequent respiratory infections are added, and various respiratory disorders occur. Mental development of children does not suffer.
Infants may experience respiratory problems and inability to eat. Congenital contractures, varying in severity from simple clubfoot to generalized arthrogryposis (multiple congenital pathology of the movement apparatus, manifested by numerous joint contractures, muscle wasting and spinal cord lesions), occur in approximately 10% of newborns with severe lesions. Infants lie in a relaxed “frog” position, spontaneous motor activity is reduced, children cannot overcome the gravity of the limbs, they do not hold their heads well.
Usually, except in very rare, severe cases, the diagnosis of SMA is not made in the hospital. The child is discharged home healthy, and when parents notice low muscle tone, they either don’t attach serious importance to it if they don’t know how a healthy baby should move, or calm down with the doctor’s advice at the clinic: “Don’t worry, everyone develops in due time, he will still get up and run." Parents may not understand the severity of the problems, this should be seen by the doctor, but, unfortunately, in polyclinics, the symptoms of SMA are poorly known.
These children show the first signs of the disease before the age of 6 months. This means that they do not acquire the skills to sit, crawl, walk on their own. As a result, the range of motion in such children is very small. At the same time, SMA does not affect the cognitive sphere, children understand everything, and sensitivity is not affected. If you deal with them as with ordinary children - play, read, collect pyramids - then these children develop absolutely normally mentally and mentally, and all developmental delays that neurologists can put on them are associated with impaired motor activity and conditions in which which they are.
More than 2/3 of children with this disease die before the age of 2, in many cases death occurs in early infancy due to damage to the respiratory muscles and the occurrence of various complications from the lungs.
CMA2
With type II spinal muscular atrophy, the disease first manifests itself somewhat later (in the first 1.5 years of a child's life) and is characterized by a slower course. The main sign is the inability of the child to stand up.
Children with SMA2 are usually able to suck and swallow, and respiratory function is not impaired in early infancy. Nasal tone of voice and swallowing disorders appear at an older age. Despite progressive muscle weakness, many survive into school age and beyond, although the later stages of the disease are severely disabled and children require wheelchairs. Ordinary strollers are not suitable for them, additional supports, stops, special devices are needed that optimally fix the position of the body.
In many patients with a long life expectancy, one of the main complications of the disease is scoliosis and contractures, which develop very quickly. Even in bedridden children, scoliosis develops quite significantly, the curvature of the spine occurs not from stress, but from weakness.
Children with SMA2 are stable enough for a period of time that parents can maintain the set of skills that these children have already acquired.
There is such a term “disease plateau”, which means a certain period during which children are quite stable, and there is no significant deterioration in the condition, progression of the disease. It may look like this: children gain skills, like all ordinary children, when the disease “starts”, they stop developing, and then the regression of their condition can go very slowly or, conversely, very quickly, each child has his own way. Or so: children gain skills for a certain time, then some event or illness occurs, some of the skills are lost, and then a rather long “plateau” sets in, during which there may even be slight improvements, but then inevitable deterioration occurs. The rate of progression of the disease, the duration of the "plateau" (or lack thereof) and subsequent deterioration - all this is very individual.
CMA3
Kugelberg-Welander disease- the mildest form of spinal muscular atrophy (SMA type III). It begins at the age of 1.5 to 17 years. With such a disease, people live longer, the progression is slow. Muscle atrophy begins with the legs and then spreads to the arms. In infancy, clinical manifestations of the disease may be absent. Progressive weakness develops in the proximal limbs, especially in the muscles of the shoulder girdle. Patients retain the ability to walk independently. Symptoms of weakness of the muscles of the bulbar group are rare. Approximately 25% of patients with this form of SMA have more muscle hypertrophy than muscle atrophy; therefore, muscular dystrophy can be misdiagnosed. Patients may live to adulthood.
SMA in this large group of children is detected at the age of over one and a half years, i.e. The child is usually able to walk independently. The disease manifests itself so individually that the diagnosis can be made at a year and a half, or maybe at nine years. Depending on this, there will be different forecasts both in terms of duration and quality of life.
In children with SMA3, life expectancy is almost the same as the standard one, they live up to 30 and 40 years. Their symptoms do not progress so quickly, but these children also need to be given rehabilitation and physical therapy classes.
Now there are a fairly large number of adult patients with SMA, and this is not the fourth type, these are children with SMA2 and SMA3 who have grown up. They have big problems that are not related to movement and breathing. No matter how long they live, 20 years or 30, they are already disillusioned with medicine, because no one knows what to do with them. Every mother of a child with SMA and every adult patient with SMA can tell roughly the same story about a doctor's appointment: "Don't come to me, we don't know what to do with you"; "You're not dead yet, ah, wow." Indeed, doctors do not know what to do with these patients, and they say: “Well, what you want from me is not being treated, to be honest, I don’t know what to do with you.” Nobody deals with them, after 18 years they don’t know what to do with them at all.
These patients (often invisible patients because they stay at home) do not believe in medical care because they have been brushed off all their lives. And they seek help only when it is no longer possible to ignore the symptoms, when severe pain, i.e. late - almost already on his deathbed. Until recently, there was no work with this category of patients. Now there is an opportunity to somehow improve the situation, more assistance is provided by charitable foundations, more attention is paid to this problem.
SMA3 disease does not develop very rapidly, gradually there is a general weakening of the body and a slow loss of acquired skills.
CMA4
The fourth type of SMA occurs in people over 25 years of age. The disease develops rather slowly, with virtually no effect on life expectancy. With SMA4, tremors can develop, a general weakening, including muscle strength, can occur. Over time, SMA4 can lead to loss of the ability to move independently.
Translation of materials from the site Muscular Dystrophy UK.Original: Spinal Muscular Atrophy Type 1http://www.musculardystrophyuk.org/app/uploads/2016/05/SMA-Type-1.pdf.The saved pdf-file with the original article is placed at the end.
Spinal muscular atrophy (SMA type 1) is a rare, inherited neuromuscular disease.. SMA affects the ability to crawl and walk, move the arms, head and neck, and breathe and swallow. SMA is classified into types based on the age at which symptoms appear and on the physical milestones that the infant or child is likely to achieve - the ability to sit, stand or walk.
There are four main types of SMA: 1, 2 and 3 forms appear in childhood. Type 4 appears in adulthood and is also known as adult SMA.
This classification is not rigid. There is a wide range of severity between different types of SMA and between children, youth and adults within each type.
There are also other, even rarer, forms of SMA with different genetic reasons, including SMA with respiratory failure, spinobulbar muscular atrophy and distal SMA.
What causes SMA?
Usually, the brain sends electrical impulses to the spinal cord through nerve cells to muscles. This allows you to consciously reduce them and make them move.
SMA affects large collection of nerve cells called lower motor neurons(motor neurons) that emerge from the spinal cord and innervate skeletal muscles. Lower motor neurons transmit nerve impulses that allow the muscles used by humans to crawl, walk, move their arms, head, and neck, as well as breathe and swallow, to move.
In order for the lower motor neurons to be healthy, the body must produce important SMN protein(Survival Motor Neuron). The body's ability to do this controlled by the SMN1 "survival motor neuron" gene.
Every person has two copies of the SMN1 gene, one copy from each parent. People who have two defective copies of the SMN1 gene have SMA. If a person has one defective copy of a gene, then he is a carrier. Carriers usually do not have SMA or any symptoms of SMA. People with two healthy copies of the gene do not have SMA and are not carriers.
SMA is passed from parents to children through the SMN1 genes. If both parents are carriers, their child may inherit two defective genes, one from each parent. If this happens, the child will suffer from SMA.
Having two defective genes means that the child is only able to produce a small amount of the SMN protein. This leads to a decrease in the number of lower motor neurons in the spinal cord. The impulse from the spinal cord is poorly transmitted to the muscles, which makes it difficult to move. Muscles are not used and this leads to muscle atrophy.
For more information on "The Genetics of Spinal Muscular Atrophy" see: http://www.smasupportuk.org.uk/the-genetics-of-sma
What is SMA Type 1?
Type 1 SMA is the most unfavorable form of SMA. Approximately 50-70% of childhood SMA cases are reported. This type is sometimes called Werdnig-Hoffmann disease or acute infantile SMA.
Every child with type 1 SMA is different. Symptoms of type 1 SMA usually appear within the first few months of life. In some cases, SMA can affect babies before they are born, and mothers may remember that their baby has become less active towards the end of the pregnancy.
We can say that the earlier the symptoms of the disease appeared, the more difficult the condition of the child. The most severely affected children die before, during, or shortly after birth. Such cases are sometimes called SMA 0 (zero) type.
Sometimes doctors indicate the severity of the disease within 1 type, using a decimal classification, for example, 1.1, 1.2, 1.5, 1.9. If you have questions about this classification, you can contact your child's medical team.
SMA type 1 is a condition that cannot be treated. Although it is impossible to accurately predict what will happen, the majority of children (approximately 95%) have a life expectancy of less than 18 months. Thus, children who are diagnosed with SMA within the first weeks or months have a significantly shorter life expectancy.
How is SMA type 1 diagnosed?
A doctor can make a diagnosis based on the medical history, a physical examination of the child, and by taking a blood sample for DNA testing. The sample is checked for the presence of a deletion mutation in the SMN1 gene on chromosome 5. Test results are usually available within 2-4 weeks.
If there is any uncertainty about the diagnosis, additional studies may be required, for example, electromyography(EMG) or muscle tissue biopsy however, this is usually not required to confirm the diagnosis.
Is there treatment and prevention?
At present, there is no definitive treatment for SMA and no drugs that reverse the damage to the lower motor neurons and halt the weakening of the muscles. However, there is a set of measures aimed at reducing symptoms and maintaining the quality of life of patients for as long as possible.
How does SMA type 1 manifest itself?
This section outlines the symptoms of type 1 SMA. It is important to remember that each child with type 1 SMA has different symptoms and the severity of the illness varies.
Due to weak muscle tone ( hypotension) children with type 1 SMA are often described as "sluggish". Profound muscle weakness affects the ability to move, swallow, and breathe. Babies with this form of SMA have difficulty with head control, turning over, and not sitting up on their own. A faint cry is also possible.
Muscle weakness in children is usually the same on both sides of the body (symmetrical). Muscles located closer to the center of the body ( proximal muscles) are usually affected more often than muscles further from the center of the body ( distal muscles). Typically, children with type 1 SMA have weaker legs than arms. Children have difficulty raising their arms and legs while still being able to use their hands and fingers.
Weakness respiratory muscles can cause difficulty breathing and coughing. It is also possible to increase the chance of respiratory infections, which can be life threatening.
The muscles that are used for sucking and swallowing are also affected, which can make it difficult for the infant to feed and gain weight. Trouble swallowing can increase the risk of liquids or food entering the lungs ( aspiration), which can lead to suffocation and, in some cases, pneumonia.
The brain is usually not affected, and children with this form of the disease are often described as bright, active, and responsive. Facial muscles are usually not affected and children may smile and frown.
What care and support is needed for people with SMA type 1?
The child needs the qualified help of several related professionals, which may seem redundant, but everyone has an important role to play. These may include specialists in neuromuscular diseases, palliative care, pulmonologists, orthopedists, physiotherapists, rehabilitation therapists, speech therapists, nutritionists, and community pediatricians. It is important, if possible, to have a case manager to help coordinate the services provided to the patient's family. More information on the work of each professional from the Who's Who of Professionals information sheet can be found at: http://www.smasupportuk.org.uk/whos-who-of-professionals
At each appointment, you can discuss emerging issues, and then jointly decide on further actions.
Breath
Careful control breathing necessary to ensure patient comfort and reduce the complications of muscle weakness. For an overview of breath control, see the booklet Standards of Care for Spinal Muscular Atrophy – the family guide published by TREAT-NMD. The booklet can be obtained by contacting the SMA support organization in the UK or downloaded from the official TREAT-NMD website: http://www.treat-nmd.eu/sma/care/family-guide/ .
There are several options for breathing support. However, not all methods are suitable for every type 1 SMA patient.
Possible options:
- Physiotherapy chest to maintain comfort;
- cleaning respiratory tract from the secret;
- Medical treatment, reducing secretion production;
- Painkillers to reduce distress caused by difficulty breathing;
- Non-invasive ventilation (NVL)) With artificial ventilation to increase patient comfort, control an acute infection, or correct hypoventilation in nighttime. Non-invasive ventilation may not be suitable for all patients, for example, it is not suitable for children with severe muscle weakness of the muscles of the mouth and throat (bulbar muscles) and children under 6 months of age. For the rest of the patients, this option will help relieve symptoms of respiratory failure or facilitate discharge home from the hospital;
- Invasive ventilation- artificial ventilation through an endotracheal tube (a flexible plastic tube that is inserted through the mouth or nose into trachea) or tracheostomy. Artificial ventilation with an endotracheal tube is often used as a short-term emergency measure. However, as long as there is an effective treatment to prevent the progression of muscle weakness, the use of an endotracheal tube for mechanical ventilation in the long term remains an ethical dilemma.
Choosing the most appropriate breath control option involves very difficult decisions. Time and support are needed to clarify all issues and discuss the various options that are best for the child. Decisions are made jointly with specialists who know the child's medical history and can predict its possible course.
Food
The child may have difficulty eating and swallowing due to muscle weakness. Feeding can be exhausting for infants with SMA type 1, and they may lose weight as a result. Children with difficulty swallowing are at risk for inhalation ( aspiration) food, which can provoke respiratory(respiratory) infections.
Advice and support on feeding, swallowing and nutrition can be obtained from health professionals such as nurses, consultant physicians, speech therapists, nutritionists, community nurses. A rehabilitator and physiotherapist can also recommend how to properly hold the baby while feeding.
Currently, there is no evidence that people with SMA type 1 need a special therapeutic diet or a diet with an increase or decrease in certain nutrients.
If swallowing becomes unsafe or the baby is not gaining weight, alternative feeding methods may be offered, such as through-feeding. nasogastric probe (NGZ), nasojejunal probe or through gastronomic tube.
Everyone should have the opportunity to discuss the indications for using the above methods and consider all the possible benefits and risks for the child. Regardless of the option chosen, training and support must be provided to continue to feed the baby safely at home.
Constipation is a common problem in children with type 1 SMA. It can cause discomfort and cause breathing problems. Some children have reflux. To reduce discomfort and prevent complications, the management of these symptoms should be discussed with the child's caregivers.
Care and support
You should be able to discuss in detail the care options that are appropriate for the child. A team of specialists will help you decide which support is the most appropriate for each individual case. It is important to develop a plan in advance to treat the child in case of deterioration or emergency. The plan can be revised at any time at your request.
In an ideal situation, the goal of patient care is to improve the quality of life at home with family for as long as possible, with a minimum number of hospitalizations.
In addition to medical care for breathing and nutrition, additional support is available to improve the health of the child and the emotional well-being of the entire family. While the child is at home, this support is provided by a therapist, nurse or health care team. palliative care. [ ] In the UK, children's hospices also offer a wide range of services to support terminally ill children and their families. For more information about local children's hospices and palliative care, please visit: http://www.togetherforshortlives.org.uk/ or call 0808 8088 100.
To maintain the mobility of the child is used physiotherapy, allowing you to perform passive exercises that the child cannot do on his own. You can use these techniques at home. Passive exercise is also good for a child's circulation and helps prevent joint stiffness ( contracture).
A physical therapist may suggest using stretches and exercises for the child while bathing, swimming, or in a hydrotherapy bath. Doing these exercises in a playful way will allow the child to have fun, and moving in warm water will add a sense of freedom of movement.
Chest physiotherapy helps to clear the airways for problems with coughing.
Selecting a general position can improve the child's overall comfort. The rehabilitation specialist may suggest that the child be seated, which will provide the necessary support and allow him to play calmly.
The specialist may also advise the use of sleeping systems (mattresses) that will provide a comfortable position for the arms and legs of the child at night.
What other help is available?
Availability diagnosis SMA type 1 has a strong impact on the family. It is very important in such a situation to have emotional support and the opportunity to discuss emerging issues. Such support may be qualified professionals, a therapist, a freelance medical worker, a social worker, a psychologist or a psychotherapist.
[Note. ed.: we remind you that the article was developed by the British organization ] In addition to the basic care provided by various specialists, the information and assistance you need can be obtained by contacting the Spinal Muscular Atrophy Support UK. The staff of the center will answer your questions, and will also be able to provide contacts of volunteers who have personal experience in dealing with this disease. In the UK, children with type 1 SMA are provided with educational toy sets free of charge.
For more information visit: http://www.smasupportuk.org.uk/how-we-can-support-you , call 01789 267 520 or email: [email protected].
Muscular Dystruphy UK also provides information, support, advocacy, grants to provide special equipment for people suffering from spinal muscular atrophy and a number of other neuromuscular diseases. Their website address is www.musculardystrophyuk.org. You can also call 0800 652 6352 or email: [email protected].
In various regions of the UK, local consultants and specialists are attached to public neuromuscular clinics. They can get all the necessary information and help on muscle diseases. Local specialist contacts are available at: http://www.musculardystrophyuk.org/get-the-right-care-and-support/people-and-places-to-helpyou/care-advisors/
Financial support
Families residing in the UK, depending on the specific situation, may be entitled to various benefits to cover additional expenses incurred.
More information about benefits can be found at: http://www.gov.uk/ under Benefits and Carers and Disability Benefits. The Department for Work and Pensions in the UK can be contacted on 0345 608 8545.
Contact a Family provides necessary information and support to families with children with disabilities, including information about benefits and subsidies. You can contact them by phone: 0808 808 3555 or through the official website: http://www.cafamily.org.uk/
Together for Short Lives provides information and support to families with children with terminal illnesses. You can contact this organization by phone: 0808 8088 100 or through the official website: http://www.togetherforshortlives.org.uk/
Turn2Us is a charitable organization that helps people get social security benefits, grants and other assistance. You can contact them by phone: 0808 802 2000 or through the website: http://www.turn2us.org.uk/
To apply for financial assistance, you can contact a freelance health worker you work with, a community nurse, a neuromuscular specialist, or a social worker.
There are also a large number of charitable organizations that help purchase household goods, specialized equipment, or organize a day off. For more information please contact SMA Support UK or use the sitemap: http://www.routemapforsma.org.uk/
Parents with children with SMA may be referred to genetic counseling, including from the local therapist.
Such counseling is geneticist. He will answer all questions and help you understand how SMA is transmitted and what are the chances of developing this disease in other family members. A geneticist can also give advice to future parents when planning a pregnancy. You can ask for a second consultation at any time.
For more information on the genetics of SMA, the risks of passing the disease to the child, and the necessary tests, see the brochure The Genetics of Spinal Muscular Atrophy at: http://www.smasupportuk.org.uk/the-genetics-of- sma
Information about Future Options in Pregnancy can be found at: http://www.smasupportuk.org.uk/future-options-in-pregnancy
What is expected in the future?
As new drugs are developed, there is a need to test them in clinical settings, and sometimes it takes years to find the right number of patients for research.
In the UK, there is the SMA Patient Registry, a database of genetic and clinical information about people with SMA who want to accelerate the research process. The registry allows specialists to obtain information about the condition and number of patients with this disease. This information contributes to the development and improvement of patient care standards.
- Spinal Muscular Atrophy - Information for Families
- Caring for your child
- Toys, games and activities for children with spinal muscular atrophy
- Who is Who of the Specialists
- Genetics of Spinal Muscular Atrophy
- Possible options during pregnancy
- Information and Support
- Social Assistance Service
Online resources
- Guide to Spinal Muscular Atrophy Type 1: http://www.routemapforsma.org.uk/
Standards for Care and Treatment of SMA (TREAT-NMD)
[Note. TREAT-NMD is a European organization dealing with neuromuscular diseases. ]
This leaflet describes best practices for the management and treatment of the most common forms of SMA, including SMA type 1. It is used by doctors but is also available to families. A printed copy may be requested from SMA Support UK. It can also be downloaded from the official TREAT-NMD website: www.treat-nmd.eu/sma/care/family-guide/ .
UK SMA Patient Registry
The patient registry is a database genetic and clinical information about people with SMA. It is used to find participants for holding clinical trials, as well as to help specialists get more information about the disease. Information about the operation of the Registry and how to register with it can be obtained from SMA Support UK in the UK at: www.treat-nmd.org.uk/registry. The organization can also be contacted by phone: 0191 241 8605.
Glossary
Amino acid
The basic unit of which squirrels. There are 20 different amino acids that are involved in the formation of protein compounds. The specific order of amino acids determines the structure and function of a protein.
Amniocentesis
Sample collection amniotic fluid(fluid in which the fetus is located) for prenatal diagnostics. Cells in the fluid are checked for possible genetic disorders.
amniotic fluid
Fluid surrounding fetus in the uterus.
Anterior horn
the front of spinal cord in which the cell bodies of the lower motor neurons. Long, thin extensions of motor neurons called axons transmit impulses from the anterior horn of the spinal cord to the muscles.
Antibodies
Squirrels produced by the body to protect it from foreign bodies such as bacteria or viruses.
Aspiration
Ingestion of food, liquid or vomit into the airways/lungs.
Atrophy
Depletion or reduction of any organ. SMA is called Spinal Muscular Atrophy due to damage to the lower motor neurons inside spinal cord leading to exhaustion skeletal muscles.
Autosomal recessive inheritance
To genetic disease inherited, both parents must be carriers recessive(suppressed) gene, one damaged copy of the gene from each. If a person has only one defective copy of the gene, then the person usually does not show symptoms of the disease, but he is carrier and can pass on the damaged gene to their children. The disease is autosomal if the defective gene is located in autosome. SMA is usually an autosomal recessive disorder.
Autosome
Any of 22 pairs chromosomes in the human body, which are not involved in sex determination. They are identical in men and women. Each pair of autosomes (one from the father, one from the mother) contains genes for the same characteristics.
axon
Elongated, thin spine nerve cell. Axons carry electrical impulses from cell bodies(where the nucleus is) to its target, for example, to the muscles.
Bulbar muscles
Muscles around the mouth and throat. When these muscles are affected, swallowing and speech can be difficult.
Carbon dioxide
The gas that is formed as one of the end products when using cell oxygen to generate energy. It is excreted in exhaled air through the lungs.
Carrier
This term refers to autosomal recessive and X-linked recessive models inheritance. A person who has both a defective and a healthy copy gene is a carrier. Usually, due to the presence of a healthy copy of the gene, carriers do not have any symptoms, but they can pass the disease on to their children. In the case of SMA, carriers have one defective copy survival motor neuron 1 (SMN1) gene and one healthy copy of SMN1. For two carriers mutations SMN1 gene, the chance of having a baby with SMA is 25% (1 in 4) for each pregnancy. A child must inherit two copies of the defective SMN1 gene from each parent in order to develop SMA.
Cell
The simplest structural unit of a living organism. Cells come in various types such as motor neurons(type of nerve cell), keratinocytes (cells of the epidermis) or erythrocytes (red blood cells).
Central nervous system (CNS)
The central nervous system consists of the brain and spinal cord. The CNS connects to other organs and tissues organism, for example, skeletal muscles peripheral nervous system (PNS).
Obtaining Chorionic Villus Samples
Obtaining chorionic villus samples is a way to check if an unborn baby has SMA. A sample of chorionic villous cells (placental tissue) is obtained with a needle. This procedure is usually performed between the eleventh and fourteenth weeks of pregnancy. Thus, cells can be genetically tested for the presence of SMA.
Chromosomes
The chromosome is DNA-containing structure. In every human cage there are 46 chromosomes (with some exceptions, including sperm cells and eggs). They inherit 23 from their mother and 23 from their father, forming 23 pairs.
clinical trial
A human trial to test a treatment or an intervention to find out more about a disease.
Contracture
Contraction in the connective fabrics and tendons around the joint, resulting in weakness and inability to fully flex and extend the joint.
deletion
genetic material (part DNA) that is absent from a chromosome or gene.
Diagnosis
Identification of the disease by symptoms or using genetic studies. Clinical the diagnosis is made when the doctor sees enough symptoms to be sure that the patient has the suspected disease. When it comes to genetic diseases, the diagnosis is confirmed after genetic test and after finding the damaged gene that causes disease. Physicians who are experts in SMA usually diagnose these disorders with a high degree of accuracy based on clinical symptoms. However, it is generally recommended that genetic testing be performed on all genetic disorders to ensure that the right treatment is being given, and to ensure that the family can benefit from it if desired. prenatal testing in future.
Distal
An anatomical term for the location further from the center of the body towards the extremities. Distal muscles, such as those in the arms and legs, tend to be less affected by the most common forms of SMA compared to proximal muscles - those that are involved in breathing.
DNA (Deoxyribonucleic acid)
DNA is molecule, which contains the genetic program for the development of all known organisms. DNA is often compared to a set of blueprints, a recipe, or a code, as it contains the instructions needed to create other components. cells, for example, proteins.
Electromyogram (EMG)
A test that evaluates the electrical activity of the muscles and nerves that control muscles. It is used to diagnose neuromuscular diseases. There are two types of EMG: intramuscular and surface. Intramuscular EMG involves inserting a needle electrode, or a needle containing two fine-wire electrodes, through the skin into the muscles. Surface EMG involves placing an electrode on the surface of the skin.
Embryo
The name corresponding to the stage of development from a fertilized egg to eight weeks of pregnancy, when the embryo becomes fruit.
Enzyme
Protein, which initiates, promotes, or speeds up a chemical reaction. Almost all processes in our body require enzymes. For example, digestion of food, growth and structure cells.
Fetus
A term used for an unborn child after the eighth week of development before birth.
Gastronomic tube (G-tube)
A feeding tube placed in the stomach surgically. Sometimes the tube insertion procedure is also called PEG(percutaneous endoscopic gastrostomy).
Gene
Plot DNA which carries information about protein synthesis. Genes are carriers heredity from one generation to another. We typically have two copies of each gene inherited from each parent. When the genes mutate changes the structure and function of proteins, which can lead to disease.
genetic counseling
Information and support provided by a geneticist to people with genetic diseases in family. Genetic counseling helps families understand how the disease is transmitted, the likelihood of passing the disease to children, and which family members may be carriers of the damaged gene. Counseling also helps adolescents/young people with an illness understand what options they have for the future.
Genetic disorders
Diseases caused by changes genes. Genetic disorders can be caused by damage to one or more genes, or even entire chromosomes.
Genetic testing
Study genes person to identify changes that may cause genetic disease.
Genetics
The study genes and heredity.
Heredity
Transfer of signs (characteristics) through inheritance genes from one generation to another.
Hypotension
Decreased/low muscle tone, sometimes described as flaccidity.
hypoventilation
Decreased rate and depth of breathing (too shallow or too slow), which leads to increased carbon dioxide in the body.
Intubation
Procedure for inserting a tube through the mouth or nose into the main airways ( trachea) for artificial respiration. Intubations may be performed as part of an elective procedure, such as during surgery to protect the airway, or in an emergency if the patient is critically ill.
Invasive ventilation
This term describes assistance with breathing that is delivered to the body through a device or tube. This usually requires intubation or tracheostomy. This is the difference from non-invasive lung ventilation, which is carried out using a mask or a respirator mouthpiece.
artificial ventilation
A medical procedure used to help with breathing when a patient is unable to breathe on their own. It is usually carried out with a special apparatus-fan or a manual compression bag. This term is most commonly used to refer to invasive forms of ventilation, such as intubation or tracheostomy. However, in some cases, short-term mechanical ventilation may be non-invasive.
Molecule
Two or more atoms chemically bonded to each other. For example, water is a molecule made up of two hydrogen atoms and one oxygen atom bonded together (H2O).
Motor neurons (moto-neurons)
Nerve cells that connect the brain and spinal cord co skeletal muscles allowing conscious muscle contraction (movement). They act as a message delivery system: electrical impulses originating in the brain are transmitted along the spinal cord via upper motor neurons; electrical impulses are further transmitted through the lower motor neurons to the skeletal muscles that control movement. The lower motor neurons are located in anterior horn spinal cord and are the main cells suffering from SMA. In SMA, insufficient SMN protein causes damage lower motor neurons leading to muscle weakness and atrophy.
muscle biopsy
Muscle sample collection fabrics for research.
Mutation
irreversible change gene in DNA sequence that can be inherited by subsequent generations. Depending on the type of mutation and its location within the gene, it may or may not have any effect on production. squirrel, and damage the function of protein production, causing genetic disease such as SMA.
Nasogastric (NG) Tube
A thin and flexible feeding tube that goes through the nose. The end of the tube is in the stomach.
Nasojejunal probe
A thin and flexible feeding tube inserted into the nose. The end of the tube is in the jejunum (middle part of the small intestine).
Nerve cells
Often referred to as neurons, nerve cells quickly transmit electrical impulses throughout the body. Different types of nerve cell form the nervous system, which allows us to perceive and respond to our environment. For example, the brain sends an impulse to nerve cells, causing them to contract. Nerve cells play an important role in both unconscious functions, such as the beating of the heart, and conscious functions, such as hand movement.
Neuromuscular
Anything that has to do with nerves, muscles, or neuromuscular junctions.
Neuromuscular junction (NMS)
Connection between lower motor neurons and fibers skeletal muscle called a synapse. NMS allows you to transmit nerve impulses to the muscles, causing them to contract.
Non-invasive ventilation (NVL)
Breathing support with a machine that delivers air through a mask.
Nucleus
The main center of the cell containing molecules DNA.
Rehabilitation therapy
Observation and treatment to develop independent living skills.
Orthopedic
Pertaining to the musculoskeletal system: the muscles and skeleton, including joints, ligaments, tendons, and nerves.
Palliative care
Palliative care - full care of the patient's body, mind and soul, as well as support for the patient's family. Care is provided already at the stage of diagnosing the disease and continues regardless of whether the patient receives treatment or not (Definition of the World Health Organization, 1998). Palliative care can be provided in a variety of settings, including hospitals and hospices, as well as in the home.
PEG (percutaneous endoscopic gastrostomy)
A feeding tube placed in the stomach through the abdominal wall. The tube is placed using a special endoscopic camera. In some cases, the procedure is performed using sedatives without general anesthesia.
Peripheral Nervous System (PNS)
Consists of branches nerve cells outside central nervous system (CNS). The PNS connects the CNS to the muscles and internal organs. axons lower motor neurons and their connections with muscles ( neuromuscular junctions) are located inside the PNS.
Physiotherapy
Physical methods used to strengthen, maintain and restore the physical function of the body.
Prenatal diagnosis
Genetic testing for diseases in fetus or embryo. By collecting fluid samples or fabrics, procedures such as amniocentesis or biopsy chorionic villi.
Protein
Proteins are made up of chains amino acids arranged in a certain order. The order of amino acids in the chain is determined by the genetic code ( DNA). Various genes have instructions for protein synthesis. Proteins are the building blocks of our body and are essential for structure, function and regulation. cells, fabrics and organs. Examples of various proteins are enzymes, hormones, antibodies and motor neuron survival protein (SMN).
Proximal
Anatomical term meaning closer to the center of the body. Proximal muscles, such as those found in the hips, shoulders, and neck, are more affected than distal muscles in most cases of SMA.
rare disease
The European Union (EU) considers a disease rare if it affects less than 5 people in 10,000.
Recessive
autosomal recessive is character inheritance genetic disease if there are two defective copies gene. This means that the defective copy of the gene is inherited from each parent. SMA due to mutation moto-neuron survival gene 1 (SMN1), is an autosomal recessive disorder. In X-linked recessive diseases, two defective copies are required for the manifestation of the genetic disease in women, and only one copy of the defective gene for the manifestation of the disease in men. This is because X-linked recessive diseases are caused by mutations in genes on the X chromosome but not on the Y chromosome. Men have one X and one Y chromosome, while women have two X chromosomes.
Reflux
Backflow of fluid from the stomach into the esophagus.
Respiratory
Pertaining to breathing.
RNA (ribonucleic acid)
RNA is very similar to DNA in that it also carries genetic information. It plays an important role in protein formation. There are different types of RNA that perform different roles.
Skeletal muscle
A consciously controlled muscle attached to bones that allows movement. For example, the muscles of the biceps, triceps and muscles of the thighs.
Spinal
Pertaining to the spine.
Spinal cord
Bundle of nerve tissue inside the spine. It includes nerve cells and extends from the brain. The brain and spinal cord are central nervous system (CNS).
Survival motor neuron gene 1 (SMN1)
Gene, at mutations or deletions which develops SMA. In order for the bottom motor neurons survived, you need a certain amount protein SMN, which is produced by the SMN1 gene.
Survival motor neuron gene 2 (SMN2)
A gene that affects the severity of SMA because it is able to produce a small amount of the SMN protein. People with the defective gene SMN1, it is important to have more copies of the gene SMN2 because the more copies of the SMN2 gene a person has, the more the body will be able to produce a functional SMN protein. Patients with more severe forms of SMA, such as types 1 and 2, usually have fewer copies of the SMN2 gene than those with type 3 SMA.
Survival motor neuron (SMN) gene
The gene that produces protein (SMN). Mutations in SMN1 gene are the causes of some forms of SMA. There are two types of SMN genes, SMN1 and SMN2.
SMN protein
Made from genes SMN1 and SMN2, SMN protein is required for survival of lower motor neurons. If the cell lacks the SMN protein, the cell dies. Of all types cells, lower motor neurons are most affected by low levels of SMN protein.
Symmetric
Same on both sides.
Textile
A system of cells that function simultaneously. For example, organs are formed from several tissues.
Trachea
Respiratory channel.
Tracheostomy
Surgery to create an opening in trachea for breathing through a tube, not through the mouth.
Respirator
Artificial lung ventilation apparatus.
Virus
Viruses are made up of genetic material ( DNA or RNA) surrounded by protein shell. They are able to cling to cells and get inside. Some viruses (such as cold or flu viruses) make people sick. But the ability to get inside cells also means that some viruses can be used for treatment.
Translation by Ekaterina Firsova.
Every important conversation between us at the children's hospice boils down to one single topic. What is better - to let a terminally ill child die in peace, not to prolong the torment, because life in tubes, on medical devices, can hardly be called a full-fledged life. But who can decide whose life is full and who is not? After all, we now know how many good things can be, even in the most difficult condition, even on a ventilator - you can swim in the pool, ride yachts, go to school and travel to different cities ... So what is more correct? Again and again we return to this conversation, but we cannot find an answer.
Most parents are willing to prolong the life of their children at any cost. Let the child be unable to do anything, let him be covered in tubes, as long as he is alive. There are a very small number of families who would rather let go than watch their child suffer. But Russian medicine saves everyone, without giving a choice - if the family calls an ambulance in a critical situation, the child will invariably be connected to a ventilator. The Orthodox Church offers to carry its cross to the end, Russian society denies euthanasia. As a result, parents who do not want to prolong the life of a terminally ill child artificially are forced to go underground. They cannot seek help from medical organizations, they cannot find support from friends, they should not call an ambulance and blog about their decision. They have to be silent and remain with the whole situation one on one. Otherwise, it is very scary that they will peck, put them in jail, and deprive them of their rights.
I want every family with a terminally ill child to have a choice of how their child will die. I really want every family to receive medical care and our support, regardless of the choice made. So that families who do not want to connect their child to the devices are not forced to hide and be afraid.
Vasco died on September 2 when he was 7 months old. Vasco suffered from the most severe form of SMA, Werdnig-Hoffmann spinal muscular amyotrophy, type 1 SMA. Vasco's mother decided to talk about how her child died in order to support families who do not want to prolong the life of their children with the help of devices.
Please read this text.
***
Vasco is my first child. It was a long-awaited, desired child. Vasco made me a mother.
I think my story started the same way as most other families that have a child with SMA. In the maternity hospital, Vasco was given 9 points out of 10 on the Apgar scale. All was good. But at 2 months, I began to notice that he does not make any attempts to hold his head, moves his arms and legs a little. At the appointment with the orthopedist, I asked the doctor to pay attention to this, he sent us to a neurologist, the neurologist examined Vasco and said that, most likely, this is a genetic disease - spinal muscular amyotrophy (SMA), the most severe form (Werdnig-Hoffmann). We passed a genetic analysis, went for a consultation with a professor at a children's neurological hospital. The diagnosis of SMA was confirmed.
At the hospital, we were immediately told that this disease was incurable. Illness with a fatal outcome. The prognosis of life is a maximum of 2 years. They advised me to start thinking about other children and get tested for SMA during my next pregnancy. Vasco seems to have been given up as a bad job. What should we do with him, how to take care of him, how to help him? None of this was said in the hospital and we were discharged home.
All relatives were shocked when they learned Vasco's diagnosis. Neither my family nor my husband's family had children with SMA, we had never even heard of such a disease before. At first, everyone said that it was worth redoing the tests, maybe this was a mistake? Then my husband offered to send the child to an orphanage, he said that he would not be able to watch his son get sick and die. He also said that before meeting me, everything was fine in his life, but now this has happened, and, probably, I am paying for my sins. Later, I read the stories of other families with SMA and often saw fathers leaving.
I started googling, looking for clinics that would deal with SMA. So on the Internet I found a group of parents in the social network Vkontakte. I began to correspond with other parents, found out about the Italian center for helping children with SMA SAPRE, met an Italian mother who had recently lost a child with the same form of SMA as Vasco had. I was most interested in what will happen to the child and how to help him?
I received all the information from the same parents. They told me that the disease would progress, that soon Vasco would stop eating, then breathing difficulties would begin. And that I have a choice. You can artificially support the life of a child with the help of devices - an expectorator, a sanatorium, a ventilator. Then the child will be able to live long enough, in Italy there are children on ventilators who are already 18-20 years old. But they are completely immobilized, unable to talk. Intelligence in SMA is preserved, which means that the child will be fully aware of everything that happens to him. Or you can refuse to use all the devices and provide the child with palliative care, that is, take care of the quality of his life, alleviate suffering with the help of medicines. But then Vasco is unlikely to live even up to a year.
If all these devices, daily medical procedures could bring at least some benefit, improve his condition ... But I understood that only deterioration awaited us ahead. That all manipulations, tubes and devices will cause suffering to the child. That life on a ventilator will be years of physical existence, years of torment for a child. I believe that it is somehow wrong to artificially support life on vehicles ... Everyone makes their own choice. I chose the palliative path for Vasco. If euthanasia were allowed in our country, then I would choose this option.
I told my husband, parents and friends about my choice. They all supported me morally, although hardly anyone fully understood what Vasco's disease was. My husband said that he also did not want Vasco to spend his whole life on the machines. But he completely shifted the further care of the child to my shoulders. He said he couldn't handle it himself. So I was left alone with the child.
Until 5 months everything was fine. Together with Vasko, we returned from Bulgaria, where my husband lived, to Moscow. I made myself a temporary registration in Moscow and wanted to do the same for Vasco, but I was told that this was impossible without the written permission of my father. I had a declaration from Papa Vasco to take the child abroad, and there was a line that I have the right to sign all the necessary documents, but they told me that I needed some kind of separate declaration, specifically for temporary registration. Vasko had Russian citizenship, a Russian insurance policy, but we did not have time to make a residence permit and registration.
By the end of the 5th month, Vasco began to wheeze, macrotax began to accumulate, and salivation increased. I bought an aspirator, learned how to remove macros through the nose and mouth with a tube and thus make breathing easier. We had no problems like other children with SMA - Vasco did not turn blue, slept well at night. But somehow Vasco drank from a bottle, choked, aspiration into the lungs occurred, my child began to choke, I called an ambulance, Vasco stopped breathing. I was very frightened when I saw a child with huge eyes, turning blue, without breathing. I got scared. By the time the ambulance arrived, he had already recovered. The doctors examined Vasco and took us to the hospital, to the infectious diseases department.
Now I understand that I was not ready for how Vasco's condition would worsen. I didn’t know exactly how it would happen, these breathing problems, how my child would leave ... When you see a child who is choking and you understand that you cannot alleviate his condition, it is very difficult. I didn't even think that everything would be so fast. In the hospital, everything happens like a machine. We were immediately given a probe, because Vasco's swallowing reflex began to disappear, and I hoped that he would gain strength, get enough food, and recover. I didn't think it would happen so quickly...
In the hospital, they probably considered that if I know the diagnosis, then I know what kind of disease it is. No one talked to me about forecasts. An ophthalmologist, a cardiologist, and a neurologist were called to Vasco. The neurologist asked: “What do you want to hear from me? You know your diagnosis." When I asked the doctor about the forecasts of deterioration in breathing, the dynamics, how breathing problems will develop, they answered me that “no one will ever be able to answer this question for you.” If they would at least tell me that the child is starting to seriously deteriorate, and there is little time left before he needs to be connected to the device ... But I realized that our doctors know little about this disease, not to mention nurses .
Families need information support first of all. To have information about the disease, how it develops, how to help the child. When a diagnosis is made, to give contacts of organizations, groups and foundations that can tell parents about this disease. It is important to know what will happen in what sequence and how specifically. This should be told in advance so that you are ready - how the deterioration will take place, what exactly will happen to the child. It is important to find out about this as much as possible in advance so that it is not so scary when it all starts. For example, I knew in advance that wheezing would begin, salivation, which he would not be able to cough up, and I knew how to help him. What can be done to alleviate the condition - to tap out in what positions to hold the child. But I knew this from mothers of the same children, and not from doctors.
We were in the hospital, the doctors constantly hoped that tomorrow we would be discharged home. When Vasco was changed the probe, he became ill, aspiration occurred again, the doctors prescribed us inhalations, which, as I later found out, are contraindicated for children with SMA. One morning I woke up and saw that Vasco was not breathing like usual. Even after I tapped it, sanitized it, the wheezing did not go away. I constantly wore it to show it to the doctors, but they answered that such a disease, nothing could be done. I asked for a pulse oximeter to measure the saturation (blood oxygen level), but they said that the department did not have a pulse oximeter. At 9 pm Vasco began to choke and turned blue. I took him in my arms and ran to the nurse, the nurse tried to find the doctor on duty, but could not. Together we ran to the emergency room. At the door of the intensive care unit, the nurse took the baby from my hands and said: “Wait, you can’t go there.” I remained standing near the doors of the intensive care unit. I don't know how much time has passed. Then the door opened and a doctor came out and said, “We put him on a ventilator. We tried to breathe it with an Ambu bag, but nothing worked, and we connected it to the machine.”
The first time I saw him, I was terrified. Apparatus, tubes, it was so terrible... The child has no voice. I see him crying, but I don't hear him. I asked the doctor why there is no voice? They answered me: "He's on the machine." Nobody explained anything to me. There, all the parents were near the doors of the intensive care unit, waiting for the doctor to come out. He never left at the appointed hour, everything was always late. We came and waited, and did not know if they would let us in with our children today? They didn't let them in every day. Somehow I knew that relatives were not allowed into intensive care. For me it was like a law. I did not even think that it was possible to achieve being with the child together in the intensive care unit. Those 5 minutes that I was allowed to visit Vasco were a gift for me. After 5 minutes, they came in and said: "That's enough." And I left. Only now, when I read articles about children's intensive care units, I found out that according to the law, the hospital does not have the right to prohibit parents from being with a child in intensive care, that these are purely internal regulations. If I had known from the beginning that I had the right to be with Vasco ... It is, of course, very terrible when you visit a child for just a few minutes.
As the manager told me, the first day in intensive care Vasco was restless, moaning, because he was used to being around the clock with me, in my arms. And then he began, as she put it, to get used to the pipe, to get used to it. When I came in, he cried all 5 minutes that I was there. He cried, I think, because he recognized me and wanted me to take him in my arms, he was scared there, with unfamiliar faces, pipes ...
The doctor told me that the child should have a tracheostomy as soon as possible, and I must sign the consent. I asked why they didn't ask for my consent when they put the baby on the ventilator? The doctor replied that this does not require the permission of the parents, it does not matter to them that I think, in a critical situation, doctors act at their own discretion. But now they need my consent to put in a Vasco tracheostomy, a tube in the throat that will be connected to a long-term ventilator. I refused to sign any papers. The problem is that we as parents lack information about our rights. I do not know if I had the right to write a refusal of resuscitation?
A palliative path for a child is not even discussed in hospitals. We have only one way in Russia - to do everything possible to support life. But at the same time, no help is provided for children on mechanical ventilation. The state does not provide children with equipment and supplies to live on ventilators at home. There is no help for families who decide on their own to take the child home. The head of intensive care told me that before Vasco, there was a child with SMA in their department, he lived in intensive care for a year and died there, never returning home. I understood that I would not be able to take Vasco home from intensive care on a ventilator, because we would not have any help at home.
I asked if it is possible to disconnect Vasco from the device? On a parent forum, it was said that sometimes children with SMA are taken off the ventilator and they breathe on their own. I asked if this is possible for Vasco? They answered 100% no, Vasco will not be able to live without a machine, a tracheostomy should be performed, and then the child will either remain forever in intensive care, or he can be transferred to a hospice where children are on a ventilator.
Before Vasco was born, I knew little about the hospice, I thought it was an institution for cancer patients. It seems to me that most people do not understand what palliative care and hospice are. For example, I didn’t even know that there is palliative care, I didn’t know such a word, what this help could be. When I read that children can stay with their parents in the hospice, I decided to move to the hospice just to be with Vasco. I began to look for a hospice in Moscow, but it turned out that a children's hospice in the capital had not yet been built, and the NPC Palliative Care Center and the palliative department of the Morozov Hospital did not accept children without a Moscow residence permit.
I corresponded with other parents of children with SMA, and one mother helped me negotiate with a children's hospice in their city, Kazan. She gave me the phone number of the head of the resuscitation department of the children's hospital, I called him, he promised to talk to the children's hospice in Kazan and, as a last resort, to accept Vasco in his intensive care unit, because. where parents can be with their children from morning to evening. The doctor knew about foreign experience in managing children with SMA, about the possibility of choosing between a ventilator and palliative care, he was loyal to both options, but immediately said that it was no longer possible to turn Vasco off the ventilator.
The children's hospice in Kazan agreed to accept Vasco and me. They said that the lack of a residence permit or registration is not a problem for them, they accept children from any regions for free. We were surprised why in Moscow it turned out to be such a difficulty. The Moscow hospital was interested in transferring us somewhere else as soon as possible, so when I told the intensive care unit that we were going to a children's hospice in Kazan, the head of the department was surprised why we were there, but did not interfere with us. I understood that because this is my initiative to take Vasco to Kazan, and I have to organize the transportation of the child to another city on a ventilator. The state ambulance could take us only within Moscow, and a private ambulance was very expensive, so I turned to the Vera Hospice Assistance Fund for help. The Fund paid us for an ambulance in a private company, so we got to Kazan.
At the hospice, Vasco was the first patient on a ventilator. The apparatus itself was given to us free of charge in the intensive care unit of the children's hospital in Kazan. A doctor came to us every day for an examination, the nurses put droppers, but the rest of the time we were alone in the room, and I took care of the child myself. Probably, the hospice did not know much about this disease either. Anyway, I was glad that we were in a hospice, and not in intensive care. In the intensive care unit, there is a feeling of a hospital, all these devices that are flashing, beeping, tubes ... It was difficult for me to look at other children, I walked along the corridor and turned away. The hospice is made in the form of a hotel, there is no feeling that you are in a hospital. You live in a separate room with your child, you can be with him around the clock. The hospice feels more like home. On the first day, a psychologist even came to me - he met and said that if necessary, I could contact him. I didn’t apply, I never had the experience of communicating with a psychologist, I can’t imagine how you can share your problems with a stranger, because they just have standard sets of template support words.
In the hospice, Vasco was more relaxed. I was there, they gave him morphine. There was always a drip of morphine. If he began to worry, the dose of morphine was increased. There is no voice on the tube from the ventilator, only a grimace of crying. Vasco did relax, but it did not work, the baby still behaved restlessly. And when they gave morphine, Vasco became calm. Morphine is one of the main means of alleviating the condition. When I told him poems, sang songs that he loved, Vasco smiled and listened.
In Russia, morphine is often equated with euthanasia - if you use morphine, then this is a voluntary death, which is prohibited in our country. And this makes a palliative path impossible for a child with SMA. After all, the palliative path consists in proper care and pain therapy so that deterioration does not cause physical suffering to the child. I tried to understand what a child feels when his breathing worsens - pain, discomfort? What does he feel physically? When, after a fast run, you have rapid breathing, everything inside is on fire and it hurts to take a breath, I think children with SMA feel the same way. In Russia, doctors have no experience in assessing the level of pain in a child, when and how to anesthetize. I wasn't sure if I could get morphine for Vasco at home. I didn't know the procedure for getting painkillers. It seems that there is no such way in Russia now.
Vasco was more dozing than awake. The last 3 days he slept almost constantly. Increased tachycardia. When I looked at the child on the apparatus, it seemed to me that it was no longer he who was breathing, it was just the movement of the diaphragm under the influence of the apparatus. Some kind of unnatural state. From 3 to 5 in the morning, Vasco behaved uneasily, did not sleep. We gave him an extra dose of morphine and he calmed down. An hour later, it seemed to me that he was not breathing. The apparatus works, and he lies with his eyes closed, and it seems that he himself is no longer breathing. I do not know how to explain it. I called the nurse, she looked, listened and said that there was no pulse. His heart stopped. Then only it became possible to turn off the device.
On the one hand, I am glad that the child is no longer suffering, that now he is well. On the other hand, if I were not now pregnant with my second child, life would stop for me. When I read articles about children with SMA, I see photos on the Internet, I never had the thought that I did something wrong. I read the opinions of the clergy, some wrote that all resuscitation methods of holding a child are not against God? I read publications that children are the karma of parents. The child himself chooses in which family to be born. And if this happened, then it was necessary for both me and the child - to go through this for something, this is necessary ...
I decided to do this interview because I want parents to know that there is a choice. There is no answer to what is right and what is wrong. Everyone chooses how he feels. But I really want to make it possible for terminally ill children to have a choice in Russia, and palliative care would appear.
Alesya, Vasco's mother
