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Seventeen-year-old Mahmud prepares for his infusion therapy to manage Gaucher disease at a hospital in Jerusalem. Mahmud and his family travel from Gaza into Jerusalem for his treatments. (Anushka Hauerstock for Direct Relief)
JERUSALEM — Mahmud’s mother knew there was a problem from the time her son was two years old.
She knew because she, and her other two children, were all suffering from the same condition— Gaucher disease, a condition in which a type of fat builds up in organs and bone tissue, leading to a range of serious physical ailments. Though treatment exists, it was not accessible to her and her children in Gaza, because of both cost and capacity in the local hospitals.
“At first, I was devastated because [health care providers in Gaza] said they don’t have the treatment here and can’t treat him. Then, they referred me to a hospital in East Jerusalem, but they told me they did not have the treatment either,” Mahmud’s mother said to Direct Relief in February, through a translator. She asked that her name not be used and that only her son’s name be used.
As with many patients with the disease, Mahmud’s height and weight were stunted over the following 13 years, as his family continued searching for access to treatment. Their quest would take them to hospitals in East Jerusalem at least 10 times, but on each visit, they were unable to secure access to the bi-weekly therapy, which can cost six figures annually.
Though faced with chronic fatigue, which he said interfered with his education and ability to play his favorite sport, soccer, Mahmud was lucky to avoid the fate of his brother, whose spleen was needlessly removed after a misdiagnosis at a Gazan hospital. This removal negatively impacted his immune system, while not addressing the problems caused by Gaucher disease. The family was also told, incorrectly, that if Mahmud did not receive treatment by the time he turned 20, he would die.
Mahmud undergoing therapy at Jerusalem’s Shaare Zedek Hospital in February. (Anushka Hauerstock for Direct Relief)
The family, which is very close and has lunch together most days, maintained faith that they would be able to find a solution, even as the years dragged on. Finally, about two years ago, during yet another visit to a hospital in East Jerusalem, a breakthrough appeared.
“We got a referral to Shaare Zedek Hospital, and when I got here, I saw there was access to treatments, and I was hopeful to get treatment for my son,” she said.
“I was also excited to come to [West] Jerusalem for the first time,” she said, referring to the Jewish-majority part of the city.
“I was super happy,” Mahmud said, as he was hooked up to an IV as part of his enzyme replacement therapy, which he undergoes every two weeks as part of a charitable program facilitated by Direct Relief, which makes the medicine available for free. His siblings have also gained access to care through a clinical trial and another charitable program.
Mahmud’s treatment also became available as part of a charitable contribution program from a pharmaceutical company. He receives the treatment at Shaare Zedek hospital. Shaare Zedek, which was founded in 1902, happens to be the largest dedicated Gaucher treatment unit in the world — owing to the fact that 1 in 17 Ashkenazi Jews is a carrier of the defective gene and about 1 in 500 to 1,000 will have the disease, compared to about 1 in 50,000 to 100,000 in the general population, according to the U.S. National Institute of Health.
Gaucher disease is a lysosomal storage disease. It occurs due to the reduced activity of an enzyme, called glucocerebrosidase that degrades a certain compound, called glucocerebroside. When that compound is not dissolved, it accumulates and its storage leads to the various problems in cells and some organs.
Replacement therapies give patients more of the enzyme.
While the Type 1 version of the disease is not fatal, it can lead to physical complications beyond curtailed growth, such as severe bone pain, diseased bone marrow leading to pathological fractures and destruction of large joints, an enlarged abdomen (spleen) and liver, bleeding tendency, anemia and general fatigue.
“The main problem in diagnosis is thinking about it,” said Professor Shoshana Revel-Vilk, who is treating Mahmud. “Patients can go a long time before diagnosed, sometimes 6-7 years, because the symptoms are not very specific,” she said, adding that better outcomes tend to occur for patients who get treated earlier in their lives.
“Because Mahmud had other siblings with Gaucher disease, they thought about it,” she said.
“When Mahmud came in, he was very, very skinny. His weight and height were below normal for his age, and he had a swollen abdomen. He was also very, very tired and his learning capabilities were not so good because he was tired,” she said.
Professor Shoshana Revel-Vilk (R) and Majdolen Istaiti (L), a clinical study coordinator who also works with Mahmud, at Shaare Zedek. (Anushka Hauerstock for Direct Relief)
After two years of steady replacement therapies, Mahmud, who loves Dahieh music, the new Spiderman film, and the video game PUBG, said his life has changed dramatically.
“I gained weight and gained some height… and the treatments make it easier to play soccer,” Mahmud said. “The treatments used to be painful, but I got used to it.”
Thinking about the future, he said he hopes to become a businessman, importing and exporting goods. Asked which goods he would like to sell, he pauses. “Stuff. I don’t care what, I just want to do business,” he said with a smile.
Though the family now has access to critical therapies, the journey from their home in Gaza to the hospital in Jerusalem is complicated. It takes them an hour to get from their home to the border with Israel. Getting through the border, at Erez Crossing, takes varying amounts of time, between 1-3 hours, Mahmud’s mother said. From there, a driver waits to pick them up and drive them to Jerusalem, which adds another hour, without traffic.
Mahmud’s mother said she has told her friends and neighbors where her children are getting treatment, despite the acute tension between Israel and Gaza. She has also met Israeli mothers who are going through similar challenges while trying to get help for their children.
Arrangements for a party in the pediatric ward of Jerusalem’s Shaare Zedek Hospital. (Anushka Hauerstock for Direct Relief)
“I wish I could visit more. I would be happy just to go around Jerusalem, not just look on the way to the hospital.”
The family is able to enter Israel with a special medical visa, which enables them to visit the hospital for treatment only. Israel and Hamas, a U.S. State Department-designated terrorist organization that has governed Gaza since 2006, have fought an ongoing series of battles and wars since 2009.
Despite these political complications, and as is common at Israeli hospitals, Shaare Zedek treats patients from not just Gaza and the West Bank, but also from other countries, including those with which it does not have formal diplomatic relations.
The hospital’s Gaucher unit is planning programs that would increase its capacity to offer treatment for more patients both from Israel and its neighboring states. Having treated 850 patients since opening in 1989, they are working on programs to focus more on patients with neuronopathic (types 2 and 3) Gaucher disease, which can be fatal. Planning is underway to bring in patients from Gaza, the West Bank, Jordan, and Kuwait — the latter of which does not allow entry to anyone with an Israeli passport.
Revel-Vilk said that while there are some potential new treatments on the horizon for children with all types of Gaucher disease, including gene therapies, for now the enzyme replacement option is essentially the only solution.
And while Israeli hospitals are able to offer care to some of its neighbors, there are many limits to that cooperation, including resistance from Palestinian doctors and public health officials to conduct joint gene screening programs in the West Bank, which would allow for parents to know the odds of their child having the disease.
This barrier to care, as well as the broader issue of not being able to treat everyone around her who needs it, sticks with Revel-Vilk.
“We know the families. It’s much harder when you know somebody that is very close by, and you cannot help them,” she said, regarding financial and other barriers to matching patients with therapies. For Israeli citizens, the treatment is covered by the nation’s universal healthcare system.
In recent weeks, Mahmud and his siblings have been unable to enter Israel for his therapies due to Covid-19-related actions taken by both Israel and Hamas regime in Gaza to combat the spread of the infection.
“Missing one treatment probably doesn’t have major impact,” she said. “But you wouldn’t want someone to miss many doses.”
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