Pola’s illness is life threatening - transplant urgently needed to save Pola!

On a December evening, our eagerly awaited daughter Pola was born. She was quickly discharged home and we were fully able to surround her with our love and home comfort. Two days later, we received the phone call that changed Pola and our lives forever. The carefree childhood we dreamed of for our daughter was suddenly irrevocalbly interrupted... Anxiety, fear alternated with pain and a sense of uncertainty about what the next days would bring.

Based on screenings, Pola was diagnosed with a rare genetic disease maple syrup disease (MSUD), for which there is no cure. It is a rare metabolic disorder that currently affects only about 30 people in Poland. Unfortunately, Pola has been diagnosed with the most severe form of this condition.

Her body does not break down the three amino acids that are found in foods, especially those rich in protein. This leads to a toxic buildup of these substances, gradually poisoning her body. Without proper treatment, this can result in permanent damage to her central nervous system and even death.

Immediately after her diagnosis, Pola was taken to the intensive care unit. Trembling with fear, we braced ourselves for the news that awaited us. Despite being poisoned, dehydrated, and experiencing apnea, our little one fought bravely. After a few days, when her condition stabilized, she was transported to a hospital in Warsaw by ambulance. It was there that she spent her first Christmas. As parents, we had to quickly adjust to a new and challenging reality.

In order to survive, Pola must adhere to a strict low-protein diet for the rest of her life. Her diet means she cannot eat fish, cooked meats, eggs, legumes, nuts, milk, and dairy products. Other products can only be consumed in limited quantities, with their exact protein content carefully calculated. Pola takes specialized preparations approved by the Ministry of Health. She must be fed regularly at strictly defined times throughout the day and night.

Every day, we fight a battle to ensure that Pola receives the necessary daily calorie intake. Our daughter requires to consume more calories than a healthy child, and due to the frequent feedings, she is unable to experience hunger. Some feedings can last for over two hours, and the thought of the next feeding fills us with dread. If Pola is unable to consume the recommended amount of food determined by the dietician, she will require a feeding tube.

After a challenging and stressful day, the night often brings sleepless hours filled with anxiety. The fear of missing a feeding time due to exhaustion haunts us constantly. Failing to provide adequate calories throughout the day can result in increased amino acid levels, which may lead to irreversible brain damage. We learned early on just how dangerous and insidious this disease can be.

Within days of giving birth, Pola's amino acid levels were more than ten times the normal range. Identifying it early meant literally a few hours separated her from falling into a coma. We live in constant uncertainty about the potential long-term effects of such severe elevation.

Pola receives ongoing care from doctors and clinical nutritionists. She requires frequent hospital visits and requires observation after every vaccination. We do everything possible to avoid infections. Unfortunately, any reluctance to eat or loss of calories due to issues like diarrhea or vomiting could result in immediate hospitalization and intravenous glucose infusion.Even stress or pain can cause toxic compounds to accumulate in her body. Pola's strength is awe-inspiring. Despite her body being covered in needle prick marks, she surprises us every day. We learn humility and perseverance from her.

We want only one thing - for our daughter to develop properly. Despite our best efforts, we are unable to consistently protect her from the fluctuations in her amino acid levels. The disease does not become milder over time, and a delayed medical response could even result in the worst outcome....the loss of our child's life.

A liver transplant offers a chance at a new life for Pola, free from fear and limitations. The newly transplanted organ would be able to produce the necessary enzymes to regulate Poli's metabolism. This would ensure that a fever, cold, stress, or lack of appetite would not immediately lead to hospitalization.
Unfortunately, MSUD is an extremely rare disease, and many medical centers lack experience in treating it. The transplant procedure itself is complex, but it presents a lifeline for our child.

Driven by our daughter's well-being, we have decided to pursue a family transplant at the Saint Luc Clinic in Belgium. Unlike other centers, Pola's father can also become a donor there and not just her mother. The clinic's extensive experience in transplantation, including cases involving MSUD, gives us the confidence to entrust them with our daughter's and our lives.

While we await an estimate, we are already aware that the cost will exceed 135,000 euros. We humbly request your help in Pola's rescue. It is only through your support that our little fighter stands a chance at the life we have dreamed of for her.

Pola's parents (Anna & Witek)

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