Eurordis - Rare Disease Europe

How newborn screening is changing lives in Ukraine

Despite the ongoing challenges of war, newborn screening continues to play a vital role in Ukraine’s healthcare system. 

This essential programme, which tests newborns for rare conditions, gives families the chance to detect potential health issues early, often before symptoms appear. Early detection can lead to timely treatment and significantly improve a child’s quality of life. 

Until recently, Ukraine’s newborn screening programme covered only four conditions. However, as of April 2023, it has expanded to include screening for 21 rare diseases, offering more families the opportunity for early diagnosis and life-saving care. This progress has been crucial for many families who rely on early detection to manage their children’s conditions and access the right treatments. 

As we mark Newborn Screening Awareness Month, it’s an important time to reflect on the significance of these early tests. To better understand their impact, we spoke with three Ukrainian families whose children were diagnosed with rare diseases shortly after birth. Their experiences show not only the life-changing benefits of newborn screening but also the additional challenges of navigating healthcare during a time of war. 

Kira’s battle with cystic fibrosis and war 

Kira, a three-year-old from Zatoka in the Odesa region, was diagnosed with cystic fibrosis – a rare genetic condition affecting the lungs and digestive system. Her parents, Halyna and Vitalii, were relieved that newborn screening helped confirm the diagnosis, though it was delayed due to a shortage of laboratory reagents. 

“Kira’s diagnosis wasn’t confirmed until she was three months old. But I’m grateful it happened at all. It allowed us to know exactly what we were facing and begin treatment early.” 

Once the diagnosis was made, however, the family encountered difficulties accessing the necessary treatments. Healthcare support in their region was limited, and the monthly costs of Kira’s full therapy were overwhelming. 

“The biggest challenge was the local healthcare system’s poor provision of medication and inhalers. Support in our region is quite weak, and the monthly cost of therapy is significant.” 

Halyna reflects on how critical newborn screening was, as Kira’s symptoms, such as frequent bowel movements, were initially dismissed by doctors. 

“Without screening, we might not have known what was wrong until it was too late. The symptoms were often explained away as normal, which could have led to serious consequences.” 

The war has added further strain on Kira’s care. With her husband serving in the armed forces, Halyna had to manage Kira’s treatment during fuel shortages, power cuts, and the constant threat of shelling. 

“The war made it impossible to travel to Odessa for treatment. Fuel shortages and power cuts made daily treatments like inhalations difficult, but we received help from volunteers and sponsors in the form of vitamins and specialised nutrition.” 

Despite these challenges, Halyna believes that the expansion of Ukraine’s newborn screening programme, which now includes cystic fibrosis, is a vital step forward. 

“It gives more parents the chance to discover their children’s needs early and begin treatment before things worsen.” 

Her message to other parents is clear: be patient with the screening process, as early diagnosis can make all the difference. 

“When your happiness arrives in the form of a child, make sure to monitor the screening process and wait for the results, even if it takes months. Starting treatment early can make all the difference.” 

Genetics unlocks Volodymyr’s path to care 

Volodymyr, a four-year-old from Kolomyia in the Ivano-Frankivsk region, was diagnosed with a rare genetic mutation of the SCN2A gene, which causes epilepsy. For his parents, Nataliya and Volodymyr, genetic testing was essential in understanding their son’s condition after traditional epilepsy treatments failed. 

“We did our first genetic test when Volodymyr was five months old. It completely changed our treatment strategy. We finally understood why the epilepsy medication wasn’t working – he needed sodium channel blockers.” 

Although the genetic test brought clarity, Volodymyr still experiences daily seizures, and managing his condition remains a constant challenge. 

“Even when doctors find a combination of medications that works well, the seizures tend to intensify again after a few months. The genetic test cost us $1,400, which we had to bear ourselves, as not all hospitals are equipped for this.” 

Nataliya shudders to think what life would have been like without this vital information. 

“Without the genetic test, the doctors wouldn’t have prescribed the right medication. The seizures could have become uncontrollable, and Volodymyr might have entered a life-threatening epileptic state.” 

The war, surprisingly, has had less of an impact on their access to medical care, though there were challenges early on. Over time, doctors have even been able to expand their knowledge by travelling abroad. 

“At the start of the war, it was hard to get medication from abroad, but that’s no longer an issue. The constant air raid sirens and power cuts are tough, but doctors now travel abroad more often, and they’ve learned a lot about Volodymyr’s condition.” 

Nataliya is encouraged by Ukraine’s increasing focus on genetics and newborn screening and stresses the importance of acting quickly if parents notice anything unusual about their child’s health. 

“If you notice anything strange about your child, don’t hesitate to consult a knowledgeable doctor. Even small concerns can be crucial.” 

The Kabyshev family’s PKU lifeline 

The Kabyshev family, whose child was diagnosed with phenylketonuria (PKU), experienced firsthand how crucial early newborn screening can be. Thanks to this early diagnosis, their child was able to start a necessary dietary treatment, allowing them to lead a relatively normal life. 

“Thanks to the timely diagnosis from screening, we were able to start the necessary diet early. Until the second illness manifested, our child lived a nearly normal life.” 

However, managing PKU requires access to special, often expensive, foods. The family struggled to find these in Ukraine, but some healthcare support was available. 

“When the diagnosis was confirmed, it was very difficult to access special foods – they were expensive and almost unavailable in Ukraine. The healthcare system helped by providing therapeutic formulas, some medications, and free rehabilitation.” 

Without newborn screening, their child’s health could have rapidly deteriorated. Early intervention made all the difference. 

“Our child would have developed severe developmental issues by about six months. Instead of having a relatively typical childhood, we would have faced significant disabilities much earlier.” 

The war has impacted their ability to seek rehabilitation in Odessa, but overall, they consider themselves fortunate to live in a relatively peaceful region, where disruptions to medical care have been minimal. 

“At the start of the war, we were supposed to travel to Odessa for rehabilitation, but of course, we didn’t go. Fortunately, our home rarely loses power, so we’ve been able to manage the condition without major disruptions.” 

Looking ahead, the Kabyshevs see the expansion of newborn screening in Ukraine as essential, especially for families facing similar challenges. 

“Expanding the list of screened conditions is essential. Early diagnosis and treatment give children the chance to live full lives.” 

Their advice to other parents is to stay proactive and ensure that screening tests are properly completed, especially during times of resource shortages. 

“I encourage parents to call genetic centres to ensure they’ve received the samples and completed the tests. Sometimes tests are lost or delayed, and parents only find out when irreversible health issues have already developed.” 

The experiences of these Ukrainian families show that newborn screening does more than detect rare diseases – it provides families with critical knowledge and a sense of direction, even in the most challenging times. Early diagnosis has enabled parents to make informed decisions and access treatments that drastically improve their children’s quality of life. 

However, across Europe, there are still significant disparities in newborn screening policies and access. While Ukraine has made great strides, many European countries continue to offer vastly different levels of care.  

Since 2021, EURORDIS, alongside its partners and members, has been advocating for the adoption of 11 Key Principles to create a harmonised approach to newborn screening throughout Europe. These principles are designed to address the inequalities that leave many children without early, life-saving diagnoses. 

As we look ahead, we urge European Union institutions and Member States to prioritise these Key Principles, ensuring that every newborn, regardless of where they are born, has the right to early detection and the best possible chance at a healthy future. 

Julien Poulain, Communications Manager