By Hadeel Fayiz Al-Tawallbeh
Some Jordanian patients suffering from rare genetic “storage diseases” wait for death in the face of government neglect.
Nearly 20 years ago, a Jordanian family discovered that their son had mucus polysaccharide, an evil –sounding, rare type of deadly genetic disase. Worse, two more children born after him had the same affliction, which causes cells to break down and build up so that organs enlarge and the spine deforms.
An enzyme treatment can hold off the disease, but it costs tens of thousands of Jordanian dinars a year. Few families in Jordan where the average monthly income is under 352 JOD according to the Department of Statistics can afford to pay that.
So, the family watched son Tha’ar die in 2015 at 20, without accomplishing his dream of graduating from high school. His sister, Thara’a, died early this year at the same age. Sixteen-year-old Ahmad, the last sibling left, foresees his own death.
“Mama,” he asked recently, ”are we limited to a certain age? Do we get to 20 and then it’s done [for us]?”
Only few families in Jordan know the equisite pain of watching children suffer and die from what doctors call “storage diseases “ while the Ministry of Health offers little help. The Constitution grants all citizens the right to treatment, but the ministry claims it cannot afford to help these unlucky patients.
However, the ministry has not responded to an offer from a French pharmaceutical company to discount the enzyme substitution treatment. Even when the company ensured that the drug was made available to several patients in Jordan, families found themselves entanged in bureaucratic procedures that slow or block entry of the medicine into the country.
No database or clear statistical accounting exists to show exactly how many patients are affected, but estimates by the government, drug companies, and domestic health associations, put the number of cases in Jordan at 80-90.
According to the Jordanian Rare Storage Disease Association, three types of heredity diseases are not covered by health insurance in Jordan: Gaucher, Pompe, and mucus polysaccharide.
The severity of these diseases is linked to how deficient the patient is of required enzymes. As a result symptoms may appear in early childhood — or much later.
Abu Salah (not his real name in order to protect his privacy) married and the father of four, is 49 and thought to be one of the oldest Jordanians affected by a storage disease. For decades, he suffered from off-and-on dizziness and fatigue. Doctors prescribed painkillers and antibiotics and he managed to earn a living as owner of a perfume factory. But by age 45, he had an enlarged spleen and liver plus osteoporosis.
He finally got a clear diagnosis from Dr. Mohamed Al-Antaki, head of the Jordanian GaucherPatient Care Society. He sent Abu Salah’s tests to the University of Hamburg in Germany, and the verdict came back — Gaucher disease.
He started seeing five doctors on a semi-weekly basis, with costs per visit ranging between 20 and 25 JOD and medicine costs reaching up to 100 dinars. He could not afford the enzyme treatment which retards the disease. According to the dean of the Royal Medical Services, Dr. Mohammed Al-Rikad, a consultant on clinical heredity diseases, this treatment may cost up to US $90,000,annually.
The exact cost depends on the dosage required, which in turn depends on the weight of the patient. “It’s good if the disease is diagnosed early on and the child manages to obtain the substitute enzyme, as it prevents further complications and controls the disease,” he said.
Abu Salah had to see his factory to cover medical bills, then he withdrew from life to wait for the inevitable.
“I need to receive treatment to be able to re-enter the workforce and provide for my family with dignity,” he said.
“I am unemployed. I support four people (with my wife and myself that’s six people) and I am unemployed, which does not make any sense. I need to be treated. If I receive the proper treatment I will be able to re-enter the workforce and earn a living. I am tired from speaking out and pleading, and for what, to die a slow death. If there is no treatment then I prefer to die with dignity. I am living life now unable to support my kids; bed-ridden, suffering, and drying away like a flower. This is neither life nor death.”
A mutation carried in recessive genes causes storage diseases. Children are affected only if they inherit a gene from both parents that carries the same mutation. That is extremely rare.
In Jordan when there is doubt about symptoms, patients are referred to the mutations team for advanced tests at the Princess Haya Center for Biotechnologies within King Abdullah Hospital. There specific enzymes related to the diseases are measured. Patients can be transferred to the genetics clinic for an advanced DNA examination. But these tests are usually done outside Jordan and are expensive.
Heredity disease occurs in just one out of 100,000 people, the dean said. When they are found doctors record the patient’s family name, which makes it easier to diagnose possible future cases in the same family. He pointed out that families where the disease is a threat can use in-vitro fertilization and have fetuses examined and aborted if they too are affected. This is in accordance with a legitimate religious fatwaaimed at avoiding new cases of deadly diseases.
“Our problem in Jordan,” he said, “is that the work of related institutions, such as, the Ministry of Health, Medical Services, and the private sector, is not integrated and cannot be compiled for ease of access to information, in order to achieve accurate statistical representation.”
Statistics from the King Hussain Medical Center – Jordanian Royal Medical Service Hospital (JRMS) show that 48 patients have visited over the past decade with storage diseases, 23 of whom are still alive.
The number of Pompe patients diagnosed was 38, including 32 children and 6 adults. There are still 24 registered patients at the Medical Center. The number of patients with mucus polysaccharide is 24, aged 3-9, of whom two have died.
Dr. Loura Al-Sawalha, a World Health Organization representative in Amman, said WHO has no data about patients in Jordan with the diseases. A spokesperson for the Ministry of Health, Hatem Al-Azra’ai, said 38 patients in the Kingdom suffer from Gaucher, but there are no accurate statistics on the number of Pompe and mucus polysaccharide patients.
Voices of the Families of the Deceased
“I suffered for six months; crying constantly and visiting different doctors at the Medical Center. Do you know the only thing doctors told me? That he will not live more than 6 – 7 months. He had an enlarged liver and could not move due to nerve paralysis. It has been a year and two months since he passed away, but not a day goes by without me thinking about him.”
Sahim was ditagnosed with Mucus Polysaccharide and died at age 6 months.
“They kept telling me that he needs the enzyme needle, which is expensive and not available in Amman [Jordan]. I took him everywhere. I tried, but God had chosen him. May his soul rest in peace. I wish there was hope. I wish he was still around.”
Abdelrahman was diagnosed with Pompe and died at age 10..
Patient Support Group has Little Influence
The Jordanian Rare Storage Disease Society was established last year with Imad Al-Momani installed as its chairman.
Members have written in vain to the ministers of health and planning, the prime minister, and the president of the Jordanian parliament seeking treatment for patients. Last year, 38 members of parliament signed a memorandum demanding the parliament president work on resolving the problem of 50 patients named in the group’s letters. There has been no movement to do anything since.
In April 2017, Minister of Health Mahmoud Al-Shayab asked the prime minister to approve treatment of 50 patients with Goucher disease and 30 with other genetic diseases at a total cost of 6.5 million JOD a year. He pointed out that several Gaucher patients receive treatment at the expense of a drug manufacturer that would discount half the cost of treatment for the remaining cases. In response, the prime minister asked the health minister to seek funding sources.
Even when the Jordanian Society for Rare Storage Diseases wrote to the prime minister, explaining that the cost would not go above 3.5 million JOD, the correspondence with the Health Insurance Authority went nowhere.
Agreements with the Drug Manufacturing Companies
The Goucher Patient Care Society and the French pharmaceutical company Sanofi-Genzyme reached a draft agreement with the Ministry of Health in 2013 stipulating that the company would cover treatment costs for 17 Jordanian patients, something it has been doing for 14 years. In addition, it offered a 50 percent discount on the treatment for all other cases, help train Jordanian doctors to diagnose these diseases, and to provide a testing laboratory — all in service of its corporate social responsibility.
From the perpective of Mustafa Manasrah, president of the Jordanian Association for the Protection Against Medical Errors, the cost of treating people with storage diseases should not be an issue. He said the government should allocate an emergency budget in relation and cover the treatment.
Human rights activist Kamal al-Mashriqi called on the Jordanian government to rearrange the health sector, so that patients with heredity diseases get a greater share.
Foreign sympathy … Governmental Neglect
Families of Gaucher patients who receive free treatment from the foreign manufacturer had to set up a WhatsApp group to more easily spread the word about when their drugs were arriving at Al-Bashir Hospital in Amman.
The families have troubles getting the medicine their loved ones need that go beyond paying for it. Getting the drugs through the Jordanian airport is so complex and time-demanding that parents took it on themselves to do the paperwork needed and even to pay fees on behalf of the Ministry of Health.
Director of Marketing at Sanofi-Genzyme, Ibrahim Sobhi, said the company coordinates with doctors to identify what dosage is needed for each patient. The company ships the medicine to Jordan after obtaining necessary approvals from authorities.
One mother of two sick children says she communicated with the company through the Gaucher Patient Care Society and got free treatment for Mohammed, 14, and Layan, 8. She still worries constantly about delays in getting the drugs through. Whenever that happens, the mother said, “They start suffering from back pain and fatigue.”
The family of one Gaucher patient volunteered to help track drug shipments as soon as the foreign drug company initiates the entry approval process. It takes three to four months following up with the health ministry, food and drug administrion and customs. The procedures require between 300 and 400 JOD for papers, transport fares, and fees. Most of the patient families cooperate to raise that, but often, the volunteer family just pays everything to expedite receipt of life-saving drugs.
While the mother of a patient, a bank manager, foots the bill, the payment receipt is issued in the name of the Ministry of Health.
“I am alive and the father of my daughter is also present,” she said. “If we die, who is going to follow-up and do all of this?”
The patient herself is an outstanding student with a grade of 90.1 percent on her high school diploma. She has been accepted at the University of Science and Technology and will be majoring in pharmacy.
“In some cases, the procedures take time through the Ministry of Health and the Food and Drug Administration,” says Sobhi of Sanofi-Genzyme.
“We, as a company, help patients as much as we can, but we hope the other relevant officials, like the Ministry of Health, will speed up the procedures for entry of the treatment, as this a donated treatment and a registered medicine that protects the lives of patients, some of whom are children.”
Diseases Exempt from the Treatment Costs
In early 2018, the prime minister’s website presented the government’s achievements in the field of health insurance over the past year, and they included paying more than 100 million JOD for treatment of non-insured patients. The government exempted some patients from the cost of treatment, including those with thalassemia and sickle cell anemia.
The head of Thalassemia Department at Al-Bashir Hospital, Dr. Qassem Al-Sharshir, said that he treats patients with medicine and related heart and endocrine problems. He said the annual cost of treatment is about 10 million JOD or 10,000 JOD per patient. Over the past 10 years, the average age of patients has increased to 45-50 years from 20-30 thanks to consistent treatment.
According to the Head of the National Registry of Cancer in the Ministry of Health, Dr. Omar Al – Nimri, the government also pays between 500-600 million JOD for cancer treatments, or about 20,000 JOD a patient.
Attorney, Ibrahim Al-Bakhit says that Article (6) of the Jordanian Constitution binds the government to treat all citizens. Moreover, Article (3)(a) of the Public Health Law No. 47 of 2008, stipulates that public health must be maintained by providing health services. In addition, Article (27) of the Health Insurance Law guarantees that children under 6 should be treated in Ministry of Health hospitals if they are not covered by other health insurance. Bakhit said that the government should provide treatment and medical services to patients with storage diseases, given that such diseases can be fatal.
In Britain, Alistair Kent, director of Britain’s Rare Diseases and Genetics Network, said that care of patients with storage diseases in that country falls on the National Health Service (NHS). “The National Health Service provides a comprehensive and accessible service to all, regardless of race, race, disability, age, sexual orientation, religion or belief,” according to its constitution.
In 2013, the United Kingdom published a strategy for dealing with uncommon diseases, which includes 51 commitments to ensure patients’ health and social care. The main objective was “to ensure that no one is left behind, simply because he or she has a rare disease.”
WHO says that “Governments must create conditions in which everyone can be as healthy as possible. These conditions range from ensuring the provision of health services, working conditions, safe and adequate housing, and nutritious foods.”
The treatment of patients with thalassemia, sickle cell anemia, and hemophilia is much less costly than treating storage diseases and international organizations such as the World Assembly of Thalassemia Patients contributes funds, as well, according to a Health Ministry representative who asked for anonymity.
He said that Jordanian famiilies may have a child with a genetic disease and still insist on having more children. No comprehensive preventive examination for all genetic diseases exists; however, specialized centers, such as, the Department of Genetic Diseases within the Medical Center could raise awareness about the danger of more sick children which could possibly lead to a reduction in the number of new patients.
The Ministry of Health carries on its website a speech by King Abdullah of Jordan stating that “Improving the citizens’ standard of living requires attention to health care, which is the right of every citizen.” Patients with storage diseases are waiting for the ministry to abide by that statement.
Editing: Rami Khasawneh
Cinematographer: Nawras Qutaish
This investigation was carried out with support from Arab Reporters for Investigative Journalism (ARIJ) and under the supervision of ARIJ editors Hamad Al-Othman and Emad Omar.