Misha’s story
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Parent project about duchenne muscular dystrophy

Misha’s story
1.

Why Red Balloons?

Every year on September 7th in different countries around the world red balloons are released into the sky as a symbol of the International day of Duchenne muscular dystrophy (World Duchenne Awareness Day). The goal of the campaign is to raise awareness about the disease and to spread knowledge about the daily maintenance therapy.

The project Red Balloons is based on our family’s story and is for parents who raise boys with Duchenne muscular dystrophy. Firstly, for those who have recently faced the diagnosis or noticed the symptoms that may be signs of the disease.

The purpose of the project is to tell parents about the importance of early diagnosis and the daily maintenance therapy that could improve the quality and the duration of children’s life.

2.

Misha’s story

When our eldest son Misha was two and a half years old, we started to find out why he was speaking so little. «Come back when he is three years old and don’t look for diseases in a healthy child» — doctors replied to us. At just over three years old, nootropic drugs and massage were prescribed to Misha. We refused to take the pills. «But the massage won’t do any harm» — we thought and decided to have a ten-session course. It was May, 2013.

In the summer, we went to the countryside house (dacha) as usual and we put the diagnostics on hold, hoping that since children usually make a jump in the development during the summer, Misha would start talking. There was no progress, and in the autumn we made an appointment at the Institute of Correctional Pedagogy.

After an hour-long consultation with a neurologist, a child psychologist and a speech therapist and after observing Misha, the way he plays, the way he responds and how we interact with him, it was accurately concluded that there was a delay in mental and speech development. Then, in the doctor’s office, we got scared for the first time, because we couldn’t believe what was happening. Developmental delay seemed a terrible diagnosis, impossible for the son of healthy parents.

Misha sleeping in his dad’s arms.
1 month old

We were lucky. The neurologist immediately told us that we needed to look for the causes of Misha’s health condition, and organized additional diagnostics. There was among others a geneticist appointment, which we were very surprised at, because we knew nothing about either genetic diseases, or about what geneticists do. We got the geneticist’s consultation and took the tests in the Medical and Genetics Research Center in Moscow.

We were lucky because the diagnosis of progressive Duchenne muscular dystrophy was made just a month and a half after we started the examination. An experienced geneticist saw the signs, which were not visible to us, parents: enlarged calf muscles, winged bladebones and hyperlordosis. The diagnosis was made after it was confirmed that he had an increased level of CPK in blood which was based on the genetic analysis and comparison of other symptoms. We almost didn’t harm Misha’s health condition, while we were trying to deal with the delayed speech development, which actually turned out to be the result of Duchenne muscular dystrophy. It was the eve of 2014, Misha hadn’t turned four yet.

Duchenne muscular dystrophy is a progressive genetic disease, which one in every 3500 boys has. The cause of the disease is the damage of the dystrophin gene (mutation of DMD-gene), due to what there is no protein synthesized in the organism, what is then manifested in the gradual weakening of all muscle groups. Most often it is passed from the mother, but in 30% of the cases, as Misha’s, a mutation occurs accidentally.

The cure does not exist yet. Generally, boys older than 10 years old lose the ability to move without a wheelchair. Life expectancy in Russia, in general, is limited to 20-25 years, but now, carrying out maintenance therapy, young men with Duchenne muscular dystrophy in other countries live up to 30-40 years, and are able to learn, work and travel. This level of quality of life is achievable in our country.

At once the overall picture was clear and the rest of the symptoms became understandable, which if correctly interpreted at the right time, could have helped to make a diagnosis earlier: Misha was late to start walking, talking, he was getting tired quickly and was being clumsy sometimes falling on a flat surface. It became clear why he had enlarged calf muscles, big belly, bladebones, and funny waddling gait. And those things, that were bothering us sometimes, and which we thought he would «outgrow»: Misha could hardly climb the stairs, putting one foot to the other on each step.

But what made us really worried was the absence of speech, which actually turned out to be a delay of mental development. These mental disorders occur in approximately 30% of boys with Duchenne muscular dystrophy. Thus, as a result of finding the cause for only one symptom Misha was diagnosed.

Later, we found out from doctors and other parents who raise boys with Duchenne muscular dystrophy that the process of diagnosing often takes months, sometimes years. At the same time the real diagnosis is often considered in the last instance, while treating the child from a non-existent disease, which leads to a faster progression of the underlying disease.

On the bed at home.
6 months old

Early symptoms of Duchenne muscular dystrophy appear at the age from about one year to seven years, but not all boys have them and they not necessarily mean the disease. Nevertheless, you should pay attention and do additional diagnostics, especially if your son has several of them:

  1. delay in physical development in the first year of life: late to begin crawling, late to sit down, late to start walking;
  2. increased fatigability, less physical activity, compared with his peers;
  3. difficulty in jumping, walking up the stairs;
  4. rarely sits on his haunches: usually sits on the bottom or stands;
  5. when standing up from the floor, he helps himself with his hands, leaning them on his knees (Gowers test);
  6. falls frequently;
  7. walking on tiptoes or a gait change («duck» gait);
  8. physical changes: enlarged calf muscles, foot valgus, hyperlordosis, winged bladebones;
  9. delay in mental and speech development;
  10. ten times higher enzyme levels in the blood: CPK, LDH, AST, ALT.

The symptoms mentioned above are the reason for a doctor visit, but the diagnosis of Duchenne muscular dystrophy is made only based on the results of genetic analysis in which the dystrophin gene is investigated and its damage is detected.

Why is it so important to be able to recognize the early symptoms of the disease and to make a diagnosis as quickly as possible? Because it eliminates the further search and treatment of non-existent diseases, when harm is done to the organism. And despite the fact that the cure for Duchenne muscular dystrophy does not exist yet, there is a maintenance therapy, which helps to slow down the progression of the disease and can improve the quality and life expectancy, and it needs to be started as soon as you become aware of the diagnosis.

When the first shock passed a little, we started to look up the information about the foundation, the community of patients with Duchenne muscular dystrophy, maintenance therapy, alleviation of health condition, and studies in the field of drug development. None of this was in the Russian-language Internet. There was a terrible information vacuum, where you could find dry facts about the disease and limited life expectancy, suspicious forums where parents share folk remedies to control muscular dystrophy. It was suggested to use massage, rubbing, leeches, stem cells injections in order «to get rid of the disease once and for all». We were getting hopeless because of this.

Parents are clutching at straws, just to be able to help the child, but such methods of «treatment» aren’t useful, and often harm the health, accelerating the progression of the disease. Such advice on the Internet should not be followed.

What shouldn’t be done?

  1. giving excessive physical activity (doing aggressive sports, climbing up and down steep stairs, jumping on trampolines);
  2. feet steaming, bathing in a very hot water, going to saunas and banias;
  3. doing massage without a prior consultation with a doctor;
  4. using methods of «treatment» from the Internet: stem cells, leeches, and body wraps do not help.
With mom and dad at the countryside house (dacha)
6 months old

We received the first psychological support after we met the doctor Svetlana Bronislavovna. She told us about the features of the disease, about the parallel studies in the field of genetic engineering that are taking place, about the clinical drug tests that will one day become a cure for Duchenne muscular dystrophy. From her we also learned how we should change our way of living. It was she who told us about the benefits of a large number of children in families where boys with Duchenne muscular dystrophy are growing.

It was all the same December 2013, just a couple of days before the New Year. The city was empty, sunny and snowy. When we left the hospital, we realized that only positive attitude, hope and optimism can help us to live on. And love, of course.


We decided that the diagnosis itself would not be something determinative for our family, it will not pull us down and we won’t fall into despair, grieve or mourn over something that doesn’t exist. This requires strength — yes, of course. But we made a decision to move on.

The next meeting, which made an unforgettable impression on us, happened after the New Year holidays, when we came back to the hospital with Misha. Vasya from Perm was in front of us at the doctors’ examinations. At that time he was 11 years old. When Vasya left the room, the doctor said, «Oh, by the way, why won’t you exchange phone numbers with Vasya’s mom? Maybe she could tell you about their experience. It will be easier». Julia seemed fragile and strong at the same time. I remember her eyes, even though she was only looking at Misha: «Oh, he is such a baby». And she wrote down her phone with a firm hand. Her son was walking. And it gave us tremendous confidence.

We began to gather information on how to start living with Duchenne muscular dystrophy. We gained experience of being parents, who have a special boy in their family. We have something to say about what to do if a child is diagnosed. This is an experience we want to share with other parents who, just like we were one day, are at the beginning of the path and are very much in need of objective information and moral support.

You can respond differently to everything that happens. We have chosen to see the good — that’s how we want to see our life.

3.

Recommendations

What should you do if your son is diagnosed? Move on. First you need to contact with your doctor. And then begin to learn how to live with Duchenne muscular dystrophy.

Find your doctor

In Russia, very few doctors specializing in Duchenne muscular dystrophy, also because of the fact that DMD is a rare disease. Nevertheless, you must find a doctor who will be monitoring the health of your son. Schedule with him the frequency of visits, as well as the opportunity to reach him in case of emergency.

The doctor determines any consultation of experts you will need to get additionally (eg, cardiologist, orthopedist or pulmonologist), because the disease affects the entire body, including internal organs. The doctor can tell you about the way of life of patients with Duchenne muscular dystrophy, as well as about contraindications.

Only the doctor prescribes corticosteroids, which today are recognized as the «gold standard» therapy for Duchenne muscular dystrophy. Dose adjustment and reception scheme, as well as control and correction of side effects is the exclusive competence of the doctor.

Doctors who specialize in Duchenne muscular dystrophy:

Doctors who specialize in Duchenne muscular dystrophy
Svetlana Artemieva
+7 (916) 207-81-53, +7 (495) 483-44-07
artemievasb@mail.ru
MD, PhD, Head of the 2nd neuropsychiatric department of Academician Veltischev Scientific Research Clinical Pediatrics Institute of Pirogov Russian National Research Medical University
Doctors who specialize in Duchenne muscular dystrophy:
Dmitriy Vlodavets
+7 (905) 744-61-03
mityaus@gmail.com
MD, acting Head of Children’s Neuromuscular Center
Senior Researcher in Department of Psychoneurology and Epileptology,
Associate Professor of Neurology, Neurosurgery and Medical Genetics, Faculty of Pediatrics of Pirogov Russian National Research Medical University

Medicated hormone therapy

Glucocorticosteroids (Prednisolone or Deflazacort) reduce muscle breakdown and help to prolong the ability to walk, hand function and respiratory musculature function, also they reduce the risk of scoliosis, cardiomyopathy.

Glucocorticosteroids can be prescribed only by a doctor. Only doctors can determine the dosage and medication regimen. Cancellation of drugs and interruptions in hormone therapy without consulting a doctor can be hazardous to health.

More often, hormone therapy is prescribed at the age of 3-4 years. Before you start receiving hormone therapy pay attention to the appetite: how many times a day the child eats, what the size of the portion is, what food he prefers. If he is overweight, consult a nutritionist.

Boys with Duchenne muscular dystrophy can have psychological characteristics, but at the same time hormone therapy can affect their behavior. To understand what is a side effect of the treatment and what is a characteristic of the child, take notice of it. If necessary, ask a psychologist.

Consult with your dentist and ENT-specialist: tooth decay, adenoid hypertrophy, etc. can be the centers of a chronic infection that can aggravate during the hormonal therapy.

If before starting hormone therapy the child didn’t have chickenpox, it is worth getting vaccinated against the herpes virus type 6 — the vaccine is «live» and «live» vaccines cannot be used for vaccination after the therapy starts. During the hormone therapy this infantile infection can run bad and cause serious complications; that’s why this vaccination is included in the foreign recommendations.

Possible side effects of hormone therapy are: overweight, low stature, low immunity, changes in behavior (anxiety, capricious nature, and emotional lability), high blood pressure, stomach-ache, gastritis, and osteoporosis. Behavioral problems eventually disappear. It is believed that Deflazacort has fewer side effects than Prednisolone. Side effects can be adjusted by changing the dosage regimen of the hormonal drugs.

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Medicated heart therapy

Monitoring ECG, ultrasound of the heart and a cardiologist should be held at least 1 time per year. Possible cardiac problems of DMD are: a violation of a heart rate, increased blood pressure, cardiomyopathy.

Cardiac drugs are prescribed before complaints are appeared. In some cases, the cardiologist recommends the use of ACE inhibitors for the prevention of cardiomyopathy. Diuretics and beta-blockers may also be assigned for the prevention of heart failure.

You should better have a stethoscope and a mechanical tonometer with a kids cuff at home. Once you visit a cardiologist it is necessary to show the results of recent research to him. If you have a complaint, it is better to keep a diary of blood pressure and heart rate control within 3-5 days and then show it to the doctor.

It is important to remember that girls and women who are carriers of the mutation may have some violations of the heart. It is necessary for them to monitor the ECG and ultrasound of the heart, especially in adolescence, during pregnancy, after their forties or when complaints (syncope, palpitations, poor exercise tolerance, pain in the heart, and others.).

Other drugs

Basic nutritional supplements: Q10, L-Carnitine, green tea extract, omega-3 acids, etc. Vitamin D and calcium are prescribed to prevent osteoporosis.

Drugs with unproven efficacy: amino acids, antioxidants, dietary supplements, nootropics and cardiovascular drugs, when injected intramuscularly can damage the muscles. Anabolic Steroids (Oxandrolone, etc.) and Botulinum toxin A are contraindicated.

ARVI, diseases of the respiratory system

Once the child begins to attend kindergarten, school, or any other community, he gets sick more often, and this is a common situation. In most cases, it does not require special ARVI therapy. For children with Duchenne muscular dystrophy without respiratory disorders, prescription of antibiotics is not required. Frequent ARVI is not a sign of immunodeficiency and does not require prescription of immunomodulators. The impact of immunomodulators and immunostimulants for patients with Duchenne dystrophy while receiving glucocorticoids was not investigated, their use can be not safe for the child.

The use of inactivated vaccines against pneumococcus, haemophilus, influenza can reduce the frequency of ARVI. Remediation of centers of a chronic infections (especially upper respiratory tract — chronic adenoids, tonsillitis, sinusitis, etc.) can also reduce the frequency of ARVI.

If the following symptoms occur, immediately contact a lung specialist:

  1. general health problems (anxiety, drowsiness, lethargy, pallor, refusal to eat and play games);
  2. breathing problems (rapid, shallow breathing, shortness of breath, chest pain, lip cyanosis);
  3. hypoventilation symptoms — sleep disturbances, lethargy and headache in the morning, reduced stamina, problems with concentration;
  4. bronchitis;
  5. high temperature among children and adults with breathing problems.

In cases of bronchitis and pneumonia drainage massage is important at any age.

Mucolytics are contraindicated (Ambroxol, Lasolvan etc.). It is difficult for a person with weak respiratory muscles (patients with Duchenne muscular dystrophy, as well as young children and elderly people), to cough up liquid phlegm, so it flows into the smaller bronchi, that can cause the development of pneumonia.

If your son is a teenager, it is better to have a pulse oximeter at home, know how to use it, and be able to measure the oxygen saturation of blood by yourself.

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Nutrition

Hormone therapy increases the sense of hunger (children can’t stand hunger well) and can lead to excess weight. High body weight is an additional load for the weak muscles and can badly affect the motor function. It is important to maintain normal weigh, and not overweight. Meals should be regular and varied, fasting and «fasting days» are contraindicated — during the hormone therapy it may lead to gastritis, and ulcer of stomach.

Meat and fish, steamed vegetables, fresh fruit, combined with cereals and whole wheat products should prevail in the diet. Find replacement for the products that contain carbohydrates and that conduce to rapid weight gain, such as soft drinks, fast food, juices, sweets, potatoes, etc. For additional sources of calcium increase the dairy products in the diet. Avoid excessive use of salt (foods such as pickles, salted fish, sausages, canned food, ready-made products), since steroids increase the water retention in the organism.

A good way to avoid overeating and weight gain is to teach the child to assess hunger and choose the necessary products. For a younger boy you can make a chart with animals or cartoon characters, stick it on the refrigerator, and refer to it when the boy is reaching for food. This will help you to understand what motivates the child — the appetite, hunger or boredom, and what kind of food is best to offer. Take note of what products satisfy him and at what times.

Suggest trying different foods and spices (even the most unexpected ones, like raw potatoes), discuss its taste, and cook together. Find a healthy alternative to the traditional children’s sweetmeats.

During the holidays don’t control the diet too much. Use this opportunity to observe the independent choice of your son and analyze the observations. One day ration will not affect the weight, it’s more important what the everyday routine is like. Think about how to make the nutrition proper at school and kindergarten, talk about it with teachers and educators.

It is much easier to deal with the diet if the boy is not alone and is not an exception. The more the family adheres to the healthy diet, the easier it is for the child to adapt and the better the outcome will be for him.

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Physical activity

Games, some help around the house, and other motor tasks affect the development of intelligence. Of course, it is important for children to feel successful and show achievements to their peers. At the same time, the motor development of a boy with Duchenne muscular dystrophy has a number of features that need to be taken into account. Your son might need some help to realize his potential and find an area where he will be proud of himself.

Physical activity for boys with Duchenne muscular dystrophy is very important. It maintains the muscle function and provides prevention of contractures and scoliosis. Only during physical activity bones can absorb calcium. But heavy loads are contraindicated at any age. The boy must bear the strain in a submaximal mode (no shortness of breath, no pain in muscles).

Observe the child: what activity does he prefer? What is he good at? Ask him what would he like to learn: to train a dog, to ride a horse, to collect and launch airplane models, to master scooter or skate, to drive a race car, to swim or maybe to practice yoga? Any classes can be the basis for physical activity and at the same time can be a source of self-esteem for the child and for you.

Bruises and scratches for boys with Duchenne muscular dystrophy are not more dangerous than for children without health specialities. These injuries are an essential part of motor experience for a human, without which it is difficult to interpret body sensations, and to understand how to respond to them.

If the boy rides a scooter, a bicycle, or a skateboard, use protective equipment to prevent injuries (helmet, gloves, elbow pads, knee pads, etc.).

Physical activity should be moderate, but diverse: games on balancing, coordination, movements’ accuracy, ability to ride different vehicles. Note that going down the stairs or inclined surface is more damaging to muscles than going up.

Good activities — swimming (a combination of exercises and right breathing) and children’s yoga (stretching, breathing, body control). Hippotherapy can help in solving emotional and behavioral issues. Make sure you make the coach aware of Duchenne dystrophy, show him the patient’s Passport.

A child with Duchenne muscular dystrophy may get tired more quickly than other children. Teach him to evaluate the strain by himself and also to rest before he feels tired. For younger children, the chart with smiles for example, may be useful: the boy will be able to show how tired he feels. Trust his assessment, even if you think that he could still exercise. It is better to offer to return to exercises or the game after a rest. Using a large wheelchair or electric scooter, depending on the age, allows to maintain the strength and energy during the day. Never allow children to play until exhaustion.

Physical activity is important at any age. If the motor capabilities of the child have decreased, the type of activity can be adapted, but it should not be abandoned.

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Physical therapy

Duchenne muscular dystrophy causes the muscles indurations and the development of contractures. To maintain the elasticity of muscles, at any age, run daily particular exercises and stretching complex. It is recommended to do stretching after a warm shower or bath. It is especially important to stretch the hamstrings, Achilles tendon, calf muscles and wrists.

For children it is quite boring — you should not expect that it will attract them by itself. Make it a part of the family routine, for example, do morning exercises together, which begin with a warm-up of joints, and end with stretching. You can also add stretching to any workout (because all athletes warm up before and stretch after the exercise, tell your son about it). In the evening, do a soft stretching with minimum pain. Intensive stretching should be done during the day.

Stretching must not be very painful and cause negative emotions. Firstly, because excessive stretching injures the muscles and ligaments (and sometimes is fraught with fractures and injuries of the joints), and secondly, because the child in every way will try to avoid the painful exercise. Teach him to assess the pain and listen to his comments carefully, it will help to avoid injuries. Five minutes of stretching and gymnastics is better than a day without exercise.

If your son is a school pupil and moves little, teach him a small complex of exercises that could be done in a couple of minutes during the school break. At the teenage age the risk of fractures increases, remember this while doing exercises and helping your child to move.

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You can start getting to know about stretching here on this Youtube channel with exercises. Here you will find explanations of the main exercises

With his sister Masha.
6 years old
4.

Patient’s passport

What for?

We came up with the Patient’s passport that contains important information on Duchenne muscular dystrophy, permitted therapy, and contraindications. This will help to prevent medical errors. The Passport also has useful information for those who care about the boy.

How does it work?

Print the Passport and fold it according to the instructions. Show the passport to the doctors in case of emergency. Give the inside of the passport «For those who are close by» to the teachers in the kindergarten, at school, as well as pass it to the grandparents when you leave your child with them for a while.

1.
Fill in the passport using the form on the website or directly in the PDF file.
2.
Download and print the passport file.
3.
Fold a sheet according to the scheme.
4.
Glue the photo.
5.
Child’s passport is ready.
Download Download PDF and fill it in yourself.
Fill in Fill in the passport online and get a ‘ready to print’ PDF.
Download pdf-file with the passport to print out
Misha’s patient’s passport.
5.

Be happy

We had given it a lot of thought before we decided to start this project. We understand what we are writing about: Misha has Duchenne muscular dystrophy. There is hardly a day, when we are not thinking about it. Especially when we notice how fast he is growing and how the time goes by. But we do not see diagnosis, we see a smile and joy in his eyes, we hear silly questions and laughter, we feel caress when he hugs his brother and sister, and we are proud, when he manages to draw a picture or deftly balance on the balance bike. We see the son. The boy. Kind, emotional, gentle, sensitive and caring.

Favorite color — red. Favorite night dream — a fire truck. Favorite vehicle — balance bike. Favorite headwear — cap. Favorite weapon — a wooden sword. Favorite food — Grandma’s dumplings. Favorite cartoon — «Paw Patrol». Favorite hobby — books. Favorite character — Ninjago Kai (because he wears a red bandana). Favorite activity — to collect Lego. Favorite entertainment — singing and dancing. Favorite dream — to become a firefighter.

We see this and we are happy. What you will see in your children depends only on you. You can be happy too.

When creating the project we used information from
www.cureduchenne.org