January 2010, a new year full of hope promise and prosperity for South Africa. But a time bomb had been placed on my child. SMA type 1 #WerdniggHoffmann disease, the doctor wrote after a quick examination. #Fisciculations? Tremor in her hand? I’m sorry, Doctor how much time do we have left with her? A month or another or maybe another?But it was just the beginning, a new outlook on life and the world around. Our little angel was special from the time she arrived into this world.
Iman Casoojee was born 6th April 2009. You have a girl, we were told after a reasonably easy c-section. As I kissed her for the very first time, I thought, by God’s Mercy she is healthy and beautiful, a child born with a single tooth .My husband and I couldn’t wait to take her home and start our new life together as a family. We named her Iman not knowing that it would be the most ironic name of all. Iman, means Faith. Even before Iman entered this world, I would follow her progress day by day on the internet. Once she was born, I wanted to learn everything about her and how to be the best mother possible. For a while everything seemed fine, she reached all her milestones, But at 6 months Iman did not sit by herself and preferred lying down all the time. Being a first time mother, I was not that concerned as I’d read that some kids just develop slowly.
When Iman was nine months old, she still couldn’t sit. we noticed she couldn’t even roll or lift her head when placed on her tummy. We knew something was wrong but never guessed it would be so devastating. During a holiday to Durban, Iman was taken to my sister’s husband a paediatrician, Dr. Ridwan Omar who disclosed that Iman was an extremely floppy baby. Dr. Omar recommended we see a Paediatric Neurologist who suggested further testing would be required. While the doctor examined Iman, I made mental notes of all the symptoms she was pointing out. Although I did not understand any of the terms I intended to find out . After returning home, I googled
the symptoms which included a tremor in Iman’s hand as well as the term fasciculations. The results were devastating: a degenerative muscle disease called Spinal Muscular Atrophy popped up on my screen.
After reading a few lines it was evident that Iman’s condition would ultimately result in her early demise as Iman would be classified with type one, the most severe form of SMA. When we returned to Johannesburg we then took Iman to another Neurologist. Although my heart told me it was serious, I prayed and cried, pleading to God to make things okay. This was before our world was turned upside down. The doctor examined Iman and expressed that he had bad news for us. The doctor wrote down the following on a piece of paper:
Werdnigg Hoffman’s Disease.
I immediately started crying and asked the doctor how much time Iman had left with us. He responded that she could have a few months left and that was no cure or treatment available. When someone tells you your child is going to die you feel as though every ounce of air in your body is removed and that your heart has been perforated. But the weirdest part of knowing is that you feel like you already knew it, almost like déjà vu. I immediately called my parents to inform them about Iman. We never knew that a condition like Spinal Muscular Atrophy would ever manifest in our child, nor did we know of its existence. For a parent to imagine their child may never walk is hard enough, but to be told your child’s time is limited is the worst feeling ever possible.
In 2011 we attended the Curesma conference in Orlando, United States of America and decided to make a vacation out of the trip. Iman contracted the RSV virus and spent 17 days in a Miami hospital. Her right upper lung collapsed and she was intubated. We were so close to losing her. Miraculously, she recovered. Fast forward a few years later, Iman is still alive and looking forward to start a recently approved treatment for SMA, labelled as Spinraza. This lifesaving treatment is making such a big difference to the lives of many affected with SMA. What is SMA? #SpinalMuscularAtrophy is an autosomal recessive degenerative genetic disorder and is considered the #1 genetic cause of infant death, with infants often not reaching their second birthday. Sma is caused because of a mutation in the SMN1 gene, which is the gene responsible for producing protein needed for muscle development.
In individuals with SMA, the SMN1 gene is either damaged or completely absent. As a result, too little of this vital protein is produced and survival motor neurons die leading to muscle atrophy or wastage. Although there is a missing gene in most cases, a backup gene known as the SMN2 GENE which is a non-fully functional copy of the SMN1 gene exists in humans. There are 4-5 different forms of SMA, varying according to severity of the condition, with type 0-1 being the most severe. Since SMA is a degenerative condition, muscle wastage occurs with time, disabling an individual and making them susceptible to respiratory infections. In some of the more severer forms, the ability to swallow, talk and even to smile is lost. A simple cold or flu if not treated in time and properly can result in death.
Over the past few years medical experts and researchers as well as motivated families of individuals with SMA have worked relentlessly in funding and identifying methods of employment in targeting the SMN2 gene to produce sufficient protein for muscle development. The results have been outstanding, with major pharmaceutical companies applying for fast tracked FDA Approval in America. In December 2016, Biogen announced that Nusinursen, an antisense oligonucleotide also known as Spinraza received FDA approval for all types of SMA. Spinraza is being labelled as a miracle drug as it is assisting in muscle development by targeting the SMN2 GENE and reverses symptoms in SMA patients. Generally, with SMA, the younger the individual is diagnosed with SMA the more severe is the condition, yet infants have shown great benefits from commencing the treatment as early as possible.
Older individuals are also showing promising results. Surprisingly the drug is currently only available in America and more recently the European Union. Parents in America are winning lawsuits against medical insurance companies as the price tag of this drug is shocking. The first year alone requires 6 treatments with a staggering price of $125000 per dose. That’s $750000 for the first year alone. Every subsequent year requires 3 doses of the drug administered through a lumbar puncture. This excludes administration, hospital and professional services costs. In order to assist individuals seeking treatment Biogen has set up a patient support service in America called SMA360. According to Biogen this service includes assistance in seeking and obtaining Spinraza in the most cost affordable way possible for the individuals involved. This service is also only available, to the residing in USA. In Dublin Ireland, affected families won the right to free access to Spinraza through Biogen’s expanded access program.
Many individuals are affected by SMA in South Africa and in other parts of the world. A few years ago, A South African woman residing in the United Kingdom smothered 3 of her kids to death and tried taking her own life. Tania Clarens, a mother whose life had been torn apart by this devastating diagnosis of not one but three of her kids could not handle the futility of her situation and decided to take things into her own hands. Iman Casoojee was diagnosed with SMA type one at the age of 9 months. We were told that she wouldn’t live passed the age of two and that there was nothing we could do for her. However, she is now 8 years old and is looking forward to starting this life saving treatment as soon as possible. She is home-schooled to prevent contracting life threatening viruses. She is very friendly, content and highly intelligent as is with most kids with SMA..Iman has a power chair which gives her the independence and mobility she requires. This is a short video I made for her 8th birthday
To be told that there is nothing you can do for your child as they deteriorate in front of your eyes is the most helpless feeling and painful experience in the world. But now that there is hope, time is of the essence. As the hours slip by, so does our opportunities to assist our loved ones. It is far worse to be told that there is something you can do to but you cannot have access to it. Please help us to help our children and loved ones affected by SMA
Director, Curesma South Africa