Lena's Story
Long-awaited update
Today, we enter the new life with a smile – the life we’ve been dreaming of since Lena was born!
We’ve just left the hospital!
We are immensely proud of how well our little daughter has managed over the past few weeks! These were very tough days, both for her and for us as parents. However, thanks to the immense kindness, empathy, and professional approach of the doctors and nurses, we knew that Lena would gain strength day by day – and it happened just as we had hoped! The surgery lasted over 9 hours, but every minute seemed like an eternity. We hope that these nine hours have relieved Lena from the fear of the consequences of maple syrup urine disease.
The blood test results are very good, and her liver is functioning without any issues! The doctors are amazed at how quickly our little patient has recovered, which is why our stay in the hospital didn’t last for the initially estimated 4 weeks. The surgeons unanimously stated that Lena received a perfect liver from her uncle. We have no words of gratitude for the gift she received from him.
Lena is currently on a light diet to help her body adjust to the new food.
Before the surgery, Lenka chose a treat she had always wanted to try: vanilla ice cream in a cone. Something that may seem ordinary to most people can be unattainable for others. Thanks to perseverance, dedication, commitment, and simply love for another human being, we have proven that dreams can come true! Soon, Lena will be able to have ice cream, and they will probably be the best ice creams of her life!
Lena’s illness has shown us how many good people there are around us. It has proven that when we work together, seemingly unattainable things become a reality.
We would like to thank everyone, collectively and individually, for every act of kindness, kind words, and prayers.
Our daughter’s disease is an insidious and silent killer that can attack at any time, and the damage it can bring will be irreversible to Lena’s health and life. Right now, virtually the only salvation is a family liver transplant! We must act quickly, because our daughter’s life is in great danger!
On 13.08.2019, our daughter Lena was born into the world. The first moments with the baby are highly anticipated, full of joy and happiness, unfortunately, in our case it looked different. For the first few days, there was no indication of our baby’s illness. With a healthy and beautiful baby girl enjoying the hearts of everyone around her, especially her older brother, we returned home.
After less than 2 days, problems with eating began. She did not want to eat, spit out milk, by no means could we feed her. Lena became lethargic, sleepy, when it was time to feed – she would not wake up. She was getting weaker by the hour, and we didn’t know what was going on. On the 5th day of life, we received a call from the Mother and Child Institute inquiring about our daughter’s health. We were informed to immediately go to the Neonatal Intensive Care Unit in Rzeszow, where doctors were already waiting for us. The doctor placed a puncture in the central vein so that they could begin flushing the poisonous substances out of Lena’s body.
She was transported by ambulance in an incubator to a hospital, and since then we have been under the constant care of doctors from the Mother and Child Institute. Lena's condition was so serious that we decided to have her baptized at the hospital before leaving. Many questions arose in my mind: What is wrong with her? Will she recover from this? Will she develop properly? Why will she? Will she have a happy childhood? What's next for her? The hours spent in the car behind the speeding ambulance were filled with tears and fear. Our lives came to a standstill. This is how our story with MSUD began.
Diagnosis - Maple Syrup Disease (MSUD) - a very rare incurable metabolic disease that affects only 1 in 185,000 infants worldwide.
It is a genetic disorder in which, due to the lack of activity of one of the enzymes, the body does not break down 3 amino acids: leucine, isoleucine and valine (referred to as branched-chain amino acids BCAAs), and as a consequence there is an excess of these substances, which leads to gradual poisoning of the body, damage to the central nervous system, brain damage, coma, and if left untreated, the disease can lead to the death of the child.
In order to avoid poisoning her body, Lena has to follow a very restrictive low-protein diet throughout her life. Her menu includes only vegetables, fruits, specialized low-protein foods and protein replacement formulas. The most important thing is to provide the right amount of calories, at a certain time, regardless of whether the child feels hungry or not. But diet is not everything, the worst thing is that any even the smallest infection, virus, stress, inadequate caloric supply, change of climate, can cause disruption of amino acids, and thus brain damage.
During the first months of life, disease overcame us.
Constant infections, viruses, fever, vomiting, bad results, caused frequent – weekly visits to hospitals. Lena’s aversion to food was so great that our lives revolved from one meal to another. Eating every 3 hours for 24 hours a day – one feeding, could last 2 hours, followed by another in an hour. The food was still lingering in the stomach, and Lena had to get another serving again to prevent irreversible brain changes. The constant vomiting meant that we had to boost her mixtures with glucose to reduce the amount of food, while keeping the calories in line. For the first year, she was fed through a nasogastric tube (known as a probe). After medical consultations, Lena was referred for the insertion of a PEGA (artificial access route to the inside of the stomach, created for enteral feeding). Before the procedure itself, enteral feeding was miraculously avoided. Thanks to the perseverance, patience and daily efforts of the whole family, Lena started eating two weeks before the scheduled surgery date.
Lena goes to kindergarten, has her own friends, plays, sings songs, says rhymes, dances, learns to ride a bicycle, develops like any healthy child, with no sign of illness. However, we are accompanied by the daily fear that she will not eat her carefully calculated portion at the kindergarten or will return with a fever, and this can already threaten her development and even her life.
Lena is a very bright and clever child who infects everyone around her with her smile and joy. From the very first moments she has more than once shown how much strength, fight and will to live in her. We want her life to be devoid of constant fear and anxiety. Unfortunately, we are not able to control amino acid levels often enough, and protect her from disease effectively enough to give her a safe life with MSUD.
