Nafisa’s tale: Living with SMA type 1

As I sat on the bed watching a teary-eyed Sakina Adamji steady her shaking hands while suctioning mucus out of her little girl, my heart broke into a thousand little pieces as I tried to grasp the kind of strength it takes for her to do this every single day.

Sakina’s 7-month-old baby girl, Nafisa, was recently diagnosed with spinal muscular atrophy (SMA Type 1), a genetic disorder that affects the motor neurons in the spinal cord and brainstem. For them, one of the biggest challenges they have had to face was the lack of testing facilities in the country through which such genetic disorders could have been detected earlier on.

The ripple effect for them then became the mounting costs of hospital bills and even higher expenses of travel and treatment. According to Nafisa’s dad, Dr Moiz Adamji: “Motor neurons are responsible for controlling voluntary muscle movement, including those used for walking, talking, breathing, and swallowing. In SMA, the loss of motor neurons leads to progressive muscle weakness and atrophy (wasting away).”

The severity of the symptoms can vary widely, with some individuals experiencing mild weakness and others being unable to sit up or move independently. SMA can be classified into different types based on the age of onset and the pattern of symptoms.

“SMA is caused by mutations in the SMN1 gene, which provides instructions for making a protein called survival motor neuron (SMN). The SMN protein is critical for the survival and function of motor neurons. Without enough SMN protein, motor neurons die and muscle weakness develops,” he explains further.

Early detection of SMA [before a child is born] is possible through prenatal genetic testing. This testing can be done through chorionic villus sampling (CVS) or amniocentesis, which are procedures that involve collecting a sample of the developing placenta or amniotic fluid, respectively. These samples can then be analysed to check for the presence of SMN1 gene mutations that cause SMA.

In addition, SMA can also be detected through new-born screening programs, which are designed to identify infants who may have the condition before symptoms appear. New-born screening typically involves a blood test that checks for levels of a protein called creatine kinase, which can be elevated in infants with SMA.

Early detection of SMA is crucial, as it can allow for early intervention and treatment, which can improve outcomes and quality of life for affected individuals. It is recommended that parents who have a family history of SMA or who are carriers of the gene mutation undergo genetic counselling to discuss the risks and options for prenatal testing.

“SMA is a genetic disorder that is inherited in an autosomal recessive pattern, meaning that a child must inherit two copies of the mutated gene (one from each parent) to develop the condition. Therefore, anyone can be a carrier of the gene mutation without showing any symptoms,” Dr Moiz explains.

“SMA affects both males and females, and it occurs in people of all races and ethnicities. However, the incidence of SMA varies among different populations. In general, the estimated incidence of SMA is 1 in 6,000 to 1 in 10,000 live births.”

There are four types of SMA, classified based on the age of onset and severity of symptoms. The most severe type, SMA Type 1, is the most common and is usually diagnosed in the first few months of life, and if left untreated, lowers the life expectancy to just two years. SMA Type 2 and 3 are less severe, with symptoms appearing later in childhood or adolescence. SMA Type 4 is the mildest form and often presents in adulthood.

If both parents are carriers of the SMN1 gene mutation, there is a 25 percent chance with each pregnancy that their child will inherit two copies of the mutated gene and develop SMA. Prenatal genetic testing and counselling are recommended for couples with a family history of SMA or who are known carriers of the gene mutation to assess the risk of passing the mutation on to their children.

Unfortunately, gene testing is not a common practice in Tanzania and understanding of the importance of it in communities thereof is extremely low. For Nafisa, she has been fortunate enough to be born to parents who are both doctors and understand the importance of early detection and treatment.

“We were first alerted by an attending nurse that something was not right when I took Nafisa for her vaccine at Saifee Hospital. The nurse noted that her response was not what it should be at that age,” Sakina shared. They then sought a paediatric neurologist and that was the beginning of a long and emotionally gruelling journey for this young family.

A gruelling journey begins

After their paediatric neurologist, Dr Yusuf Jamnegerwalla met with baby Nafisa, the family travelled to India and after four weeks of waiting, the confirmation that Nafisa has SMA Type 1 was given to them, making it all too clear that the mountain placed before them was not going to be an easy one to face, let alone scale.

Dr Yusuf then prescribed a combination therapy for Nafisa and this alone piled onto the list of challenges facing them. Nafisa is to receive Risdiplam and Zolgensma. Risdiplam is an oral medication which she was to begin taking as early as possible but because diagnosis came late, she is yet to begin.

Risdiplam is also not a medication found in Tanzania and so the gruelling task of sourcing the needed dose began, until one was finally located and delivered a few days ago from Egypt.

“This is not an easily affordable drug. This one alone cost $40,000 (including sourcing and delivering it as the drug alone costs around $34,000) and the older she gets, the higher the price because her dosage has to double,” Sakina shares. “Zolgensma is even more expensive, $2.1M to be exact and we have no idea how we will be able to get this.”

Zolgensma is a one-time-only gene therapy treatment for children aged less than two years with SMA Type 1 and the $2.1 million covers that single treatment.

In addition to the medication, a patient with SMA requires physiotherapy and for Nafisa, medical tools like a nebulizer and a BiPAP machine are crucial in monitoring and helping her.

Presentation

Nafisa’s is the most severe form of SMA and is typically diagnosed within the first few months of life. Babies with SMA Type 1 have very weak muscle tone and difficulty moving, feeding, and breathing. They may have a weak cry and difficulty swallowing. SMA Type 1 is also called Werdnig-Hoffmann disease

Weak muscle tone: Babies with SMA Type 1 may have weak muscle tone and difficulty moving their arms, legs, and head. They may appear floppy or limp.

Difficulty breathing and swallowing: SMA Type 1 can affect the muscles involved in breathing and swallowing, leading to difficulty breathing, coughing, and feeding. Infants with SMA Type 1 may have a weak cry and difficulty swallowing.

Poor reflexes: Infants with SMA Type 1 may have poor reflexes, such as the Moro reflex (startle reflex).

Joint contractures: As the muscles weaken, infants with SMA Type 1 may develop joint contractures, which are fixed positions of the joints that limit movement.

Delayed motor milestones: Infants with SMA Type 1 may have delayed motor milestones, such as rolling over, sitting up, and crawling.

Difficulty gaining weight: Infants with SMA Type 1 may have difficulty gaining weight due to feeding difficulties.

Fatigue and sleepiness: Infants with SMA Type 1 may experience fatigue and sleepiness due to the energy required for movement and breathing.

Sakina shares that after her daughter’s recent diagnosis, she had to leave work to give Nafisa round-the-clock care. The alternative would have been for them to hire a nurse because a lot of Nafisa’s care requires someone who understands proper use of medical equipment.

“We were recently admitted at Aga Khan after Nafisa fell ill with pneumonia. As SMA Type 1 affects a baby’s respiratory system, pneumonia is often the cause of death for many babies and many times, you find parents do not really know because they have not done the testing,” Sakina shares.

“We have to be very alert on her oxygen levels and constantly monitor her breathing. We were lucky that some good-hearted folks donated a nebulizer and monitor because these are very costly.”

A nebulizer is a special device that warms or otherwise changes a liquid solution into a fine mist that’s easy to inhale. For Nafisa, her mom needs to continuously nebulize her to help soften the mucus trapped in her nasal system to suction it out.

This is a natural part of the human system but because SMA Type 1 affects the respiratory system, actions such as coughing out sputum become impossible for her. She then puts the mask on her daughter and after a few minutes, inserts a pipe to pull it out.

Amongst the many fears that Sakina faces, the effects of what happens when oxygen levels to the brain drop is one of the biggest that haunt her. “When her oxygen levels drop, it affects her brain growth and I want my baby to live and be alert. I want her to understand the world around her,” she says, tears welling up in her eyes.

She finds some way to steady her shaking hands as she inserts the suction tube up Nafisa’s nose and says: “This is the hardest part.”

A joint community

Having met Nafisa, held her and enjoyed her sweet company, I understood how one can be moved to do anything to help. The costs of treating Nafisa are so high that it is possible to feel discouraged at any prospects of hope.

With the help of friends and family, Nafisa’s parents set up active crowdfunding accounts and the reception has been incredibly positive. Through local mobile platforms (Airtel and Vodacom), DTB, NBC, GoFundMe and M-Changa, well-wishers have been able to join this family.

Furthermore, there are efforts by individuals in the genetic field to bring gene therapy for SMA to Tanzania. “A family friend of ours, who is in the genetic field, is currently planning to introduce gene therapy for SMA in Tanzania, which could help improve the lives of those affected by the disease in the country. However this is still in the pipeline,” Dr Moiz adds.

“The most affected person is Nafisa’s big sister who does not fully understand why her sister gets so much attention and this is heartbreaking for me,” Sakina shares. “This is emotionally draining for all of us and we need so much support and prayers.”

“Anything goes a long way. We usually say ‘haba na haba hujaza kibaba’ and we understand the value of a joint community,” she shares.

As I hugged her goodbye, I couldn’t keep my emotions at bay. No parent should have to watch their child suffer and it is up to us to raise awareness on lifelong illnesses and push for inclusion, even in policies, to be able to afford them much-needed care.