The price of saving your child

* Photo: News24

Click to read the article in Turkish

What if you needed 2 million dollars to save your child? This is the tragic dilemma faced by many families from around the world. A deadly disease that affects babies, who can be cured only with the most expensive drug in the world... There are temporary remedies, which are equally expensive.

These days, the families in Turkey have been stuck in between a rock and a hard place. Their access to the drug that provides temporary relief and that needs to be taken every four months has been cut. Nor are they legally allowed to launch a fundraiser for the cure.

What is SMA?

Spinal muscular atrophy, or SMA, is a neuromuscular disease that causes gradual wasting of muscles. The first type is the one that affects babies in the first months of their lives, and few survive to see their second birthday.

Every parent knows the build-up of anticipation in the first few months of a baby. When will she sit up on her own? When will roll over? And imagine all your dreams crumble into dust one day, leaving you a wreck.

'I need to check if he is breathing'

Şive Ülker need not imagine. Ülker says Doğu was a very energetic baby when he was first born. As his older brother was a handful, she remembers worrying about what would happen when she had two active kids running around the house.

However, Doğu became a bit limp as time passed. When they cuddled him, his head flopped back. "He just faded in front of our eyes." It took a few visits to several doctors and a few tests to get a proper diagnosis. She admits not having heard of SMA until being told by the doctor.

It is a genetic disease that affects one in 10,000. The SMA Type 1 is particularly deadly. Babies cannot sit up, stand up or walk, and waste away until breathing becomes an ordeal.

"I haven't had a proper night's sleep since my son was born." Her hand is always on his chest. "I need to check if he is breathing," she says.

Two drugs that work

There are two drugs that work. Spinraza is a half-a-million-dollar a year drug that needs to be administered every four months to keep the symptoms in check. Zolgensma, which is a gene therapy, is a one-off cure that costs over two-million dollars.

The problem in Turkey is that while the state covers the cost of the first, there has been some trouble is acquiring new doses. Meanwhile, the second is not approved for use in Turkey and families' attempts to launch fundraisers are thwarted at every turn.

'It took me a few months to accept it'

Sare was diagnosed when she was three months old. Her mother, Aynur Aras, says their whole world was turned upside down when they learned their first born was SMA 1.

"I just became a mom. Just as I was trying to set up a routine, I had to change my priorities." She admits it took a few months to accept what was happening, coming to grips with the fact that Sare would never be able to use the clothes and shoes or play with the toys they had bought for her.

No drugs provided for the past 2 months

The gene therapy, Zolgensma by Novartis, is a definite cure with a more than 95 percent success rate. But at 2.125 million US dollars per treatment, it is the world's most expensive drug. Its use is approved in the US and the European Union (EU) countries, but not in Turkey, which does not allow fundraisers for unapproved drugs.

Families are trying to raise funds through U.S.-based internet sites like GoFundMe. It needs to be administered before the age of two and it does not reverse the damage already done.

The alternative is Spinraza, a drug that halts the body's deterioration. However, it needs to be administered every four months. Its cost is covered by the state, but no one has been able to get their hands on it for the past two months.

Spinraza is administered directly into the spine. It is hard to watch. No anesthesia is used because of their age and the disease.

A disease the impairs breathing, swallowing...

Zeynep Elmas, Deniz's mother, says: "Just imagine! It's a disease that impairs the way she swallows, eats and breaths. You see your baby bravely suffering through it. You need to step up."

Rock singer and activist Haluk Levent is known for taking up desperate struggles. The association he heads, AHBAP, "pal" in Turkish, has come to the rescue of many people over the years. His call usually attracts the interest of thousands.

On the issue of acquiring Spinraza, he said: "There has been some supply chain issues concerning the drug. Unfortunately, some of our patients have been unable to get their shots in the past two months."

He said there was some talk about using smaller doses. Once you skip the scheduled dose, the disease resumes its destructive course.

Rock singer Levent promised to help

Aras is well aware. It has been five months since Sare got her last dose of medicine. "Sare's condition has clearly deteriorated. She used to be able to move her head. That regressed now. She can't sleep at nights. Her breathing is labored, and it causes coughing fits."

She took Deniz to the local nurse to get her regular shots the other day. "The nurse said our baby was very brave because she did not cry. She just did not feel it. I still don't know how I made it to home that day."

Levent says the families are worried. They all fear squandering all the progress already made. "Such matters can only be resolved through state intervention. I will soon talk to the Health Ministry about the fate of Spinraza supplies. I will also talk about the possibility of broadening state funding to include Zolgensma."

Deniz is six months behind her treatment. Her mother Zeynep says she has started to lose some mobility. "I do not know what will do if we do not get the drug. I can't really put what I am feeling into words," she says.

Neither can I.

Social media accounts of SMA patients:

doğu_sma, deniz_sma_ , sareyeumutol, ruzgaryuruyecek, gokalp_sma, cureforpamir, sma_typ1_fighter_rumeysa, umut_bebek_yasasin , ali_yardim_bekliyor , berraya_umut , aliosman_sma, derineumutol , aziz_cemalin_mucadelesi, sma_mirhananefesol, sma.enistalha (YAB/EMK/SD)