Larry Luxner

Rare Disease Day highlights urgency in war-torn Ukraine

Yuriy Galyulko and Karina Pietoian with 8-year-old son Eldar, who has Duchenne muscular dystrophy, and their healthy daughter, Margarita, 3, at home in Lviv, Ukraine. (Photo by Larry Luxner)
Yuriy Galyulko and Karina Pietoian with 8-year-old son Eldar, who has Duchenne muscular dystrophy, and their healthy daughter, Margarita, 3, at home in Lviv, Ukraine. (Photo by Larry Luxner)

Yesterday, Feb. 24, marked exactly one year since Russian President Vladimir Putin, without any provocation or justification, invaded Ukraine, launching a brutal and unnecessary war that has destroyed millions of lives and futures.

And this coming Tuesday, Feb. 28, marks Rare Disease Day—an annual event aimed at calling attention to the 300 million people worldwide who live with one or more of the 7,000 illnesses currently classified as rare.

Imagine how unfortunate it must be right now to be a Ukrainian rare disease patient, or the parent of one, struggling to obtain medicine that can cost as much as $300,000 a year without insurance, while trying to keep warm during a brutal winter in the face of electricity outages and indiscriminate Russian missile attacks.

An estimated two million Ukrainians with rare diseases ranging from Duchenne muscular dystrophy to cystic fibrosis to pulmonary hypertension suddenly found their lives take a turn for the worse across this country of 40 million, which was already Europe’s poorest even before current hostilities broke out.

Dr. Nataliia Samonenko is head of orphan diseases and gene therapy at Kyiv’s Okhmatdyt, the largest children’s hospital in Ukraine. (Photo courtesy of Okhmatdyt)

Nataliia Vyacheslavivna Samonenko heads the Center for Orphan Diseases and Gene Therapy at Okhmatdyt Children’s Hospital in Kyiv. In normal times, the hospital—the largest of its kind in Ukraine—can handle up to 600 patients.

But since the war started, both patients and staff have been forced to take refuge in the basement to avoid shelling, she said. Only lifesaving surgeries are being performed at this time due to critical shortages of drugs and medical supplies; everything else has been postponed until the war ends.

“In fact, the situation for rare disease patients in Ukraine has never been ideal,” she told me in an email last week from Kyiv. “Yet over the last 10 years, their quality of care has grown significantly, and treatment with expensive drugs was often available. Maybe that’s why the start of a full-scale invasion was such a disaster.”

For one thing, said Dr. Samonenko, many patients could not even get to the hospital. Others fled to other countries like Poland and Germany, where they receive full access to specialized clinics.

‘It is impossible to cover absolutely everything’

But for those who stayed in Ukraine, she said, “the government has not refused to support them even now, already a year after the war. Medicines continue to be purchased and hospitals continue to function, though adjusted for missile attacks, alarms and sirens, and no electricity.”

Likewise, she said, the patients themselves also adapted, with many of them moving to safer areas within Ukraine. The problem is that after three or months, Ukrainians who fled began returning for various family, economic or psychological reasons.

“According to our calculations, only 30% of all patients remain abroad—mainly oncology patients or those who need organ transplants,” she explained. “And what about those with spinal muscular atrophy (SMA) or achondroplasia, for example, who got access to medicines not available in Ukraine? Many of these people have left their homes and have nothing at all: no money, no belongings, no relatives. Is it easy to start life anew in such a situation? I doubt it.”

Peace mural decorates a street in Lviv, Ukraine. (Photo by Larry Luxner)

SMA, an inherited disorder characterized by muscle atrophy and weakness, is a crippling disease whose patients often require round-the-clock care. Yet several new therapies—all of them extremely expensive—can stop progression of the disease, or in the case of the new $2.1 million, one-time gene therapy Zolgensma®, prevent it from ever developing if given early enough in life.

Dr. Samonenko said it’s equally hard for patients who need special devices like an oxygen concentrator or even a simple wheelchair.

“It is impossible to cover absolutely everything and everyone in this situation,” she said. “The maximum resources of the entire country are thrown into defeating the aggressor. But patient organizations often discover miracles. Volunteers even deliver medicine to the occupied territories—and I consider them heroes.”

Fundacja SMA: Poland to the rescue

Kacper Ruciński, co-founder and former president of Warsaw-based Fundacja SMA (SMA Foundation Poland), is one such hero. Within 72 hours of the initial Russian attack, he and other volunteers launched a trilingual (Polish, Ukrainian and Russian) website, an online registration system and a dedicated telephone line to advise Ukrainian families on the best route to Poland.

Fundacja SMA also finalized documents, organized transport across the Polish-Ukrainian border, arranged temporary accommodation, supplied medical equipment and helped families receive necessary hospital care once they arrived in Poland.

“This was a 24/7 operation, extremely demanding and also emotionally draining,” Ruciński said. “Just imagine trying to help parents of a child on a ventilator stuck somewhere near the border with no access to electricity and no roof over their heads; or a disabled man or woman whose town is being bombed and who has no chances for a wheelchair-adapted means of transportation.”

But the group persisted, and within six weeks they got 150 Ukrainian families to Poland and beyond, arranging and funding their journey to other European countries. More than half of the roughly 350 Ukrainian families affected by SMA now live in Poland, where they’re safe and can freely access medical treatments unavailable in Ukraine.

Nataliya Radysh of Lviv, Ukraine, cares for her two children, Sofijka, 13, and Lukyan, 11, both of whom have SMA type 1. (Photo by Larry Luxner)

As a result, the number of children and adults living with SMA in Poland has jumped by at least 20% to around 1,100.

Late last year, Ruciński’s foundation started a project named Equal Opportunities that ensures Ukrainian SMA families have a place to stay in Poland long-term as well as all necessary medical equipment and access to orthopedic and physical therapy. Since the project started, the charity has helped 37 such families with grants totaling 32,000€.

“We’re happy to observe that this is making a real difference for them,” he said.

From bomb shelters to relative safety—and back to Ukraine

Nataliya Radysh knows all too well what living through this war has been like. A single mother, she shares her ninth-floor apartment in Lviv with her 14-year-old daughter, Sofijka, and 12-year-old son, Lukyan. Both children have type 1 SMA and are confined to wheelchairs; neither can hold their heads up or sit on their own. The bedroom they share looks like a hospital intensive-care unit, with ventilators, pulse oximeters, inhalers, suction devices and plastic tubes.

For several months, Lviv—in extreme western Ukraine, near the Polish border—was relatively safe. But after that city came under Russian missile attack, Radysh realized she could no longer stay, and she too fled to Poland with her kids. After several months, though, they returned.

“Sofijka has a lot of anxiety, panic attacks and subclinical depression, and I have difficulties with babysitters,” she said. “Because of this, I have great physical fatigue. My body does not have time to recover. I am silent about the war, about the alarms, about power cuts, because I have adapted to it. But among all the difficulties, I find positive moments. I focus on them and do not give up.”

In happier times (from left), Serhyi Yashchenko, Margarita Yashchenko, Mykola Tsukanov and Svitlana Sysoeva promote an international children’s art competition to call attention to Duchenne muscular dystrophy. (Photo credit: Duchenne Ukraine)

Not far away, Karina Pietoian and Yuriy Galyulko watch carefully over their 8-year-old son, Eldar, who Duchenne. Along with their 3-year-old daughter Margarita, they inhabit the third floor of a 19th-century brick building in the center of this medieval provincial capital.

Vitaliy Matyushenko, who lives in the badly damaged city of Kharkiv—only 35 kilometers from the Russian border—also has a daughter with SMA, 19-year-old Yuliya. Days after the war broke out a year ago, she found herself huddled in a bare concrete basement in Kharkiv as her family prepared for another missile attack.

Matyushenko, a physicist, established the nonprofit CSMA Foundation in 2004 along with his mathematician wife, Svitlana, after their daughter’s diagnosis. He said Yuliya depends on risdiplam (Evrysdi®), a liquid taken once a day by mouth or feeding tube, and obtained through the compassionate use program of Swiss pharmaceutical giant Roche.

Yuliya is one of 80 Ukrainian patients who’d been receiving risdiplam from Roche for years. But now, Ukraine’s cash-strapped Ministry of Health has decided to reimburse for the drug only for children under 5 with SMA. A lack of access to this lifesaving medication could lead many of the remaining patients to leave, said Matyushenko; the matter is currently in legal proceedings.

At the time fighting broke out, negotiations were underway to access nusinersen (Spinraza®)—a Biogen drug that retails for $375,000 a year. According to Ruciński, Biogen ended up donating 128 doses of the injectable therapy for about 27 of Ukraine’s estimated 300 to 400 SMA patients.

A Ukrainian doctor in California

It’s not only the patients who have fled. So have many of the highly trained physicians who treated them.

Dr. Iryna Zhyvylo, 40, had been caring for about 400 of Ukraine’s 679 patients with pulmonary hypertension at Kyiv’s MD Strazhesko Institute of Cardiology. But in the past year, about 75 of them—including 15 children—have fled the country.


Dr. Iryna Zhyvylo (at far left) with members of the Pulmonary Hypertension Ukraine Rare Disease Association in Milan, Italy. (Photo courtesy of PHURDA)

“When the war began, I was very afraid and just stayed in my house. After a week, I took my daughter and we went to Poland,” she said. “There, I helped patients who had also left. After Poland, my daughter and I lived for five months with a host family in Monsa, a small town near Milan, with the help of Pulmonary Hypertension Ukraine Rare Disease Association (PHURDA). I worked at a PH center there as a volunteer because it was difficult to find work in Italy.”

Eventually, Dr. Zhyvylo landed a position as a post-doc researcher at the University of California-Davis near Sacramento, just where she has a contract that expires in August 2024.

“The situation for rare disease patients in Ukraine is very bad today. Our Ministry of Health cannot help these people. Some countries such as Poland have given us humanitarian assistance, but it’s not enough for my patients in Ukraine. They need to use oxygen all day, but it’s difficult when you don’t have electricity.”

Pulmonary hypertension patients in the US often use battery-powered portable oxygen concentrators, she said, “but we don’t have them in Ukraine because they’re so expensive. Before the war, patients could buy a concentrator for around $5,000. Another problem is that there’s only one PH center in all of Ukraine, and it’s too difficult to go to Kyiv because the logistics are so bad. Patients are afraid, and transport is a big problem.”

But perhaps the biggest challenge for Dr. Zhyvylo and her patients is the scarcity of drugs to treat their disease. In the United States, doctors can prescribe any of 14 FDA-approved therapies for PH, while in Europe, 10 such therapies are available. In Ukraine, there’s only sildenafil, bosentan, ambrisentan and iloprost.

“A lot of my patients in Europe are receiving good treatment now—drugs such as macitentan, selexipag and riociguat— but they don’t know what to do in the future,” she said. “We’re speaking with our Ministry of Health to find some options for these patients. Otherwise, when they return, they could die.”

About the Author
Miami native Larry Luxner, a veteran journalist and photographer, has reported from more than 100 countries in Latin America, Africa, Eastern Europe, the Middle East and Asia for a variety of news outlets. He lived for many years in San Juan, Puerto Rico, and the Washington, D.C., area before relocating to Israel in January 2017.
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