How does a parent’s life change overnight when they learn that their long-awaited baby is terminally ill? How to accept that and find the strength to fight, enjoying every day? Our heroine shared her story, which once again proves that the most important thing in life is life, and every new day is a chance for a happy future.
Duchenne muscular dystrophy (DMD) is a rare genetic disorder that is more common in boys. The first signs of muscle weakness in a child are usually seen in early childhood. In these moments, parents of a special child face many crisis situations. Olesya from Kogalym told her story, which can give strength to other parents.
Happy together
“I was born in a large and friendly family. I spent my entire childhood in the wonderful city of Tomsk. I was a curious and active child, I attended various sports clubs. Immediately after school, I entered a pedagogical university.” When she received the much-desired diploma and the right to teach, she left her hometown and started a new life.
“Everything was like a fairy tale! I met my future oilman husband. I never tire of thanking fate for this meeting. Some time after we met, a daughter was born, and two years later we had a son. We traveled a lot, visited distant countries, traveled halfway around the world with the whole family. Neither long flights nor hours-long excursions have ever bothered us.
My husband and I always knew we would have three children. All I had to do was finish the thesis I had been working on for several years, get my academic degree and go on maternity leave. However, age took its toll, so we decided not to delay and started planning a pregnancy. Our tests lasted almost 2 years. Finally, the long-awaited miracle happened! We found out we are expecting a baby. I was 36 at the time.”
The birth of a baby
“At the very beginning of pregnancy, doctors advised to do a chorionic villus biopsy to rule out all genetic and developmental abnormalities. Words cannot describe how anxious we were while waiting for the results. After some time, we received the doctors’ verdict: “Congratulations!” You will have a healthy baby! All worries immediately melted away, and we enjoyed every day, made plans, dreamed of other trips. We gave a name to the future baby on the same day.”
The pregnancy was very easy even though I worked for the whole nine months. There was more than enough energy. I gave lectures to students, I wanted to sing and dance. The baby was born strong and healthy, 8/9 on the Apgar scale. We were discharged two days after delivery. It was a great happiness that I wanted to share with the whole world!
After a month we went abroad. He was always a quiet boy. He started to sit and walk in time. Nothing special was noticed except that the calf muscles looked unnaturally large. At first, we didn’t pay attention to it, because there are long-distance athletes in our family.”
Frightening symptoms appeared
When he was 1.5 years old, I defended my thesis and received my PhD! Life was wonderful and I was very happy!
The first alarm bells sounded when the child turned two years old and started going to kindergarten. We noticed that, compared to other children, he walked very slowly and was often tired. We repeatedly consulted different specialists: pediatricians, orthopedists, neurologists, surgeons, but no one made an exact diagnosis, because the tests were within normal limits. Doctors said that the child’s muscles simply grow faster than his bones. We were prescribed massages and paraffin therapy for the calf muscles, which, as it turned out later, are absolutely contraindicated due to the existing disease. For three years, we performed these procedures twice a year.”
Confirmation of diagnosis
“Perhaps everything would have continued like this if a competent neurologist who was very familiar with this disease had not come to our small northern town. I will never forget our first meeting with him and his surprised eyes… During the examination, without waiting for the results of creatine phosphokinase (CPK) and genetic testing, he made a preliminary diagnosis, and the results of the tests confirmed it. Our beloved son was diagnosed with progressive Duchenne Muscular Dystrophy.
At that moment, it seemed that the ground was slipping from under our feet, because no one in our family had a similar diagnosis. We had no idea that athletic calf muscles and fatigue while walking could be associated with such a terrible disease. For two long months, we had to wait for the results of all the tests and the referral for urgent hospitalization in Moscow.”
Live a full life
“He is now receiving hormone therapy which improves motor activity. We independently buy the necessary drugs abroad, because they are not registered in Russia.
We receive great support from the Gordey Charitable Foundation, which organizes webinars for families dealing with such a terrible disease. From them we learn about all the latest achievements of DMD in the world. Many thanks to them for this!
We recently learned that the Circle of Good Foundation has approved the purchase of a new drug for gene replacement therapy for Duchenne Muscular Dystrophy. For us and other families who have faced such a terrible disease, this is a really big event that gives new hope to our boys.
Despite everything, a few months after the diagnosis, we continue to live actively, travel the world, opening new horizons for our children. We are together, so we can overcome all difficulties!”
More about Duchenne muscular dystrophy
The disease is caused by mutations in the DMD gene that affect the production of dystrophin, a vital protein that strengthens and protects muscles. 1 in 3,500-5,000 boys and 1 in 50,000,000 girls are born with DMD. In recent years, early diagnosis and better standards of care have increased the life expectancy of affected children.
More research is being done on the effectiveness of gene replacement therapy to restore a functional dystrophin protein, which will help more people with DMD live longer and better lives.
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