'Worse than cancer': Egyptian parents of children with genetic disorder SMA struggle to raise awareness

Zeinab El-Gundy , Wednesday 29 Aug 2018

Ahram Online talks to the parents of children with spinal muscular atrophy (SMA) in Egypt, who are trying to raise awareness of the potentially fatal genetic condition

Baby Farida -SMA
The most recent photo for baby Farida at John Hopkins hospital. According to her mother Sarah Ghanem , it was taken as her daughter who suffers SMA was being trained on how to breathe alone (Photo: Sarah Ghanem)

"It hits you like a bombshell," recounted Heba Belal, reflecting back on the moment when she learned that her daughter Laila was officially diagnosed.

Spinal muscular atrophy, or SMA, is a little-known neuromuscular degenerative disease caused by a very rare genetic defect in a gene called SMN1 that often kills infants at a very early age; in fact, it’s considered to be the leading genetic cause of death of babies worldwide, affecting between 1 in 6,000 to 1 in 10,000 people, according to the United States National Library of Medicine.

In November 2017, Egypt was introduced to SMA following a pair of campaigns on social media launched by two mothers asking for urgent help for their infant daughters suffering from the disease, as the only viable medicine for the condition just happens to be one of the most expensive in the world, too.

It was the summer of 2016 and Belal’s difficult fight with the restless disease that has no cure and little to no governmental support was only just beginning.

A new medicine and a newborn: The case of baby Laila

Belal set out a trip in 2016 with SMA that changed her life and the life of her entire family when she noticed that her three-month-old baby could not yet lift her legs or head or even act as her two elder sisters did when they were her age.

A couple of months later, she noticed that Laila was having an accelerated heartbeat and an inability to gain weight. The initial fear was that the baby had something wrong with her heart, but after numerous tests across Egypt and Austria, where her mother has citizenship, it turned out to be SMA.

“One of the things about SMA is that it is misdiagnosed in Egypt to a level that most doctors I have met here had not even heard about it before,” the mother said.

But don’t mistake its ambiguity for frailty. An exceptionally ruthless disease, SMA makes infant children lose their ability to use their muscles to move, to sit, to swallow and eat, and eventually even breathe, Heba Belal explained simply. “It is worse than cancer, “she added.

Classified into five types, types 1 and 2 are the most common, as well as being the most severe and the deadliest forms of the disease, which targets babies and infants.

"Diagnosed with SMA type 1 at six months old in August 2016 in Austria, the doctor told me to return to Cairo with no hope for finding her a cure, only with instructions about her nutrition," Heba Belal told Ahram Online.

Unable to accept those words as Laila’s fate, Belal scoured online for every bit of information about the disease that she could uncover, until one afternoon, she discovered news about a new SMA medicine called Spinraza.

Produced by US-based Bigon, Spinraza is the first and only internationally approved medication in the world that reduces the effects of SMA. A breakthrough medicine, it comes with a price tag that’s equally as liable to break the bank, considered widely to be one of the most expensive medications and treatments currently produced anywhere in the world.

"The Austrian doctor had not heard of it, but back home in Egypt, a doctor told me to sign Laila for the early access program (EAP) for the medicine," she added.

The EAP is an expanded access programme where drug companies administer an investigational or experimental drug outside of a clinical trial setting for free until it gets approval from the United States Food and Drug Administration (FDA).

In January 2017 in a German hospital, Laila got her first injection of Spinraza, becoming the first Egyptian with SMA to be treated with the medicine.

It was not an easy ride for the mother or father who saw challenging moments fraught with the possible loss of their daughter forever.   

A single mother with a singular goal: The case of Khadijah

Two-year-old Khadijah Mamdouh is probably one of the most famous cases of SMA in Egypt, thanks to her single mother Nihal El-Kilany’s restless efforts to get to her travel abroad to get the Spinraza medicine that could keep her alive, all while battling her ex-husband, a famous handballer, for child support.

In November 2017, El-Kilany, who left her job with the UN in Egypt to care for Khadijah, launched a Facebook page called Save Khadijah, asking for donations for her daughter’s treatment abroad. The Facebook page went viral, attracting support from NGOs like Misr Al Kheir to celebrities and even regular people, but as of today, the campaign is still short of the necessary sum.

"Spinraza doses are taken through injection, where each dose costs $125,000 (EGP 2.2 million), which adds up to $725,000 (EGP 13 million) in the first year alone," Nihal El-Kilany told Ahram Online.

The cost for Spinraza is reimbursed though public funds for all patients in Germany, Italy, and Iceland, while the public health insurance system in France covers patients battling type 1 and type 2 of the disease and is only available for type 1 patients in Japan.

Currently, there is a worldwide debate about how to incorporate the expensive drug that costs health insurance systems millions of dollars.

However, there is no official support or coverage for SMA patients in the Egyptian health insurance system. The ceiling paid out by the state for the treatment tops out at $14,000 (EGP 250,000).

Khadijah suffers from SMA type 2. Her mother created a mini-ICU unit in her house to keep Khadijah, who can’t move her muscles, under 24/7 care, as she often suffers setbacks and has already been to the ICU several times.

"The first thing SMA attacks in a toddler are the swallowing muscles, so they can't swallow and that’s why we use an intestinal tube to feed her," El-Kilany told Ahram Online.

She described to Ahram Online how SMA attacks children in their chest muscles and how they cannot cough or produce secretions from as young as six months old, often leading to suffocation, pneumonia, and bronchitis.

“That’s why this suction device is so important,” she said. 

 A child with SMA cannot undergo any kind of surgery, nor can they take anaesthetics or even can be put on a ventilation device in a regular ICU.

"There was a three-year-old boy named Mahmoud who suffered from SMA and went to Cairo's Abu El-Reesh paediatric hospital where he died after just one week there due to the medical team's ignorance with SMA there," she told Ahram Online.  

A social media firestorm: The case of Farida

Farida was diagnosed with SMA in October 2017 when she was five months old.

In November 2017, Farida’s case caught the attention of the nation and went viral on social media through her Facebook page Save Farida, which was launched by her mother Sara Ghanem.

In the same month, TV host Amr Adeeb discussed Farida’s condition in his nightly news talk show Kol Youm and on the next night, he announced that an anonymous Saudi businessman decided to donate $1.1 million (EGP 20 million) to Farida for her to be admitted into the Johns Hopkins Hospital in Boston.

Farida is currently in Johns Hopkins while her mother continues to raise donations for her daughter, as the Saudi’s donation still didn’t cover all of the expenses.

Ghanem has set up a GoFundMe page for people to donate towards her daughter’s remaining medical expenses, which currently amount to $120,000 (EGP 2.15 million).

In April, the Swiss pharmaceutical giant Novartis announced it had purchased the US-based gene therapy company AveXis for $8.7 billion in order to acquire its SMA gene therapy AVXS-101 project.

Billed as a new hope for SMA type 1 and 2 patients, AVXS-101 is a one-time gene therapy treatment that inserts a functioning copy of the missing or mutated SMA gene to restore normal SMN1 function.

The therapy has not yet been approved by the FDA, but is currently in the trial phase. Early reported results in medical journals are optimistic for its future, but the treatment comes with one major caveat: SMA patients who start to take Spinraza are ineligible for the therapy. 

The SMA timebomb in Egypt

There is no official number of SMA patients in Egypt. MP Ayman Abu Ela, who is a member of the Free Egyptians Party and Undersecretary of the Health Committee in the Egyptian parliament, said that there are 500,000 children suffering from SMA in the country that need immediate help.

There is no official record supporting this claim. Ahram Online has unsuccessfully reached out to the Ministry of Health for comment.

As SMA patients began to catch the attention of the media in Egypt, Nihal El-Kilany and other mothers like Sara Ghanem and Heba Belal launched the Fight SMA Egypt Facebook page in order to raise awareness about SMA.

The Facebook page has requested that the parents of other patients send and post their children’s genetic test reports as well so that the community can help them.

"We have received over 700 SMA cases with gene tests and medical reports so far," Nihal El-Kilany told Ahram Online.

Fight SMA Egypt has not been as active lately as El-Kilany is busy with her daughter, who has suffered several setbacks, but it still underscores the pleas of many parents for officials to help them.

It also highlights the tragic news of children who have passed away at an early age because of SMA.

One of those kids was one-year-old Ahmed, who passed away in February. He was among the children that needed to urgently transfer abroad to receive proper treatment, according to El-Kilany when Ahram Online first spoke to her in November.

The rarity of the disease and the expensive medical costs aren’t the only hurdles that SMA sufferers have to contend with however, as the lack of medical knowledge, protocol, and treatment options surrounding SMA present another huge problem.

Both Heba Belal and El-Kilany recounted in separate interviews how most paediatricians and neurologists in Egypt did not know that SMA even exists, let alone how to properly treat it.

"The hospitals and doctors in Egypt do not know how to deal with the kids, they do not have medical protocols for SMA in the first place," Belal told Ahram Online

"If the government can send at least two or three doctors to accompany SMA children abroad to receive treatment, maybe those doctors could receive specific training for this," El-Kilany suggested.

Those suggestions have found listeners in the House of Representatives, but so far not within the executive branch of government.

In the hopes of having the government listen to their children’s pleas, El-Kilany and other mothers are planning to sue the government in an administrative court to force them to include SMA among the treatments covered by the state.

It’s a race against time that the SMA patients in Egypt must win while their parents fight for their lives.


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