On Rare Disease Day, the parent of an SMA type 2 child stresses importance of testing before marriage, to stop passing on a faulty gene responsible for SMA
Diya Sankar, 2.5 years old, is able to balance her head, sit in a place for more than 20 minutes and for longer on a chair with support after getting a novel drug on compassionate use grounds
Along with horoscope matching, get your genome tested too, is the advice from parents of SMA children, who are now coming out to spread awareness about the high-risk genetic disorder. On the occasion of February 28, which marks Rare Disease Day, many of them want to educate the masses about the need of testing genome when looking for a marital match, to avoid passing on a faulty gene responsible for SMA in kids.
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Alpana Sharma, CureSMA Foundation India seen with husband Nishant and son Aarav
Speaking to mid-day, Alpana Sharma, cofounder, director Patient Advocacy, CureSMA Foundation India, a support group floated by SMA children's parents and whose son is SMA type 2 said, “Spinal muscular atrophy (SMA) is an autosomal recessive genetic disorder. One in 40 carry this faulty gene. I am an SMA carrier, so is my husband. We both passed the faulty gene to our son. But SMA can be stopped if carrier testing is done before marriage.”
She added, "Spinal Muscular Atrophy is the number one genetic killer of infants and young children, with 1 in 6,000 children diagnosed each year. We can stop SMA by genetic screening, Get your genome patri tested even before the janam patri match is done."
Alpana Sharama with her seven year old Arav, who is SMA diagnosed. She and her husband Nishant Kumar are founder trustee of NGO Cure SMA Foundation India
Sharma says that if both parents are carriers, they have a 1-in-4 chance of having a child with SMA. "You could be a carrier of SMA even if no one in your family has SMA, and even if you already have children without SMA. If you are found to be a carrier for SMA, your partner should undergo testing as well. If your partner's test is negative, the chance to have an affected child is low. If your partner is also found to be a carrier for SMA, there is a 1 in 4 (25 percent) chance of an affected pregnancy," she said.
About 1 in 6,000 to 1 in 10,000 children are born with SMA. Carrier screening can tell whether you carry the faulty Survival Motor Neuron (SMN) gene responsible for spinal muscular atrophy. Soorya Sankar, 29, a housewife from Alleppey district of Kerala, spends most of her time, looking after her two and half year-old daughter, Diya, who was born SMA type 1 and could not even lift her head, a year ago. This was possible thanks to a drug that she got free of cost, courtesy Dr Smilu Mohanlal, a paediatric neurologist at Aster MIMS, Calicut and CureSMA Foundation. They helped her get the oral dose of a drug from an international pharma company.
Diya Shankar two and half months is SMA type 1 and is fotrtunate to be getting compasinate life saving treatment for free in Kerala
Soorya said, “Diya was a normal child at birth and until three and half months she had no health issues and was able to make proper movements of her hands and legs. However, post immunisation, Diya's limb movements slowed. Doctors at Alleppey Government Medical College stated it to be a case of Acute Inflammatory Demyelinating Polyradiculopathy (AIDP), commonly known as Gullian-Barre Syndrome and that she should be able to regain strength in her limbs, by the age of two years. It was at Government Medical College, Kottayam, later that paediatricians diagnosed the case to be SMA and not AIDP, as Diya was not able to balance her head, and also had no strength in her limbs. She was then referred to a paediatric neurosurgeon in Trivandrum."
Soorya added that it was when she was around eight months old that a paediatric neurologist from Trivandrum suspected it to be a case of Spinal Muscular Atrophy (SMA) and advised them to get the gene test done. The result as suspected turned out to be SMA type 1. "Through reference we were able to connect to CureSMA Foundation and Dr Smilu Mohnalal, who has been supporting my daughter. On compassionate grounds, Diya has been getting the imported oral drops since July 2020 and they are gradually working positively. She is able to balance her head, can sit in a place for more than 20 minutes and for longer on a chair with support. Moreover, she has not got the aspiration pneumonia, the way she had at one and half years of age and had to be in ICU for a fortnight, post this medication," she said.
“I am worried about the future, doctors say Diya needs to take this oral dose throughout her life, and we are not financially strong enough to get such costly drugs imported,” she said. But asked about the genome test that should be done along with matching horoscope, Soorya, had a different view. She said, "The genome test should be made compulsory at the initial stage of pregnancy, so that if the report confirms that the offspring could be SMA type1, then at least the couple can decide on termination of pregnancy, rather than giving birth to SMA type 1 child."
Comparison between SMA children with and without medicine
Dr Razeena, co-Founder and director of patient empowerment, CureSMA based in Kerala has compared two cases, one of a child who received a novel drug and the other who hasn't, and stressed on the need of medicines.
Ruvanthika 4 year old and Kavipriyan 2.5 years are SMA sibblings from Tamilnadu. Ruvanthikar is on non invasive ventilator support fighting for life
She said, “Ruvantika is a weak type 2 child from Tamilnadu, showed symptoms of SMA after 8 months of age. Being weak she is prone to Lower Respiratory Tract Infection (LRTI) She is four years old now. She recently had an episode of severe respiratory distress and hypoxaemia. After the infection also showed a risk in swallow study. To avoid the high risk of aspiration the child had to undergo gastrostomy placement recently."
"In contrast we have a child from Kerala, Diya Sankar, who is two and half years old. In February 2020 she had to be kept in the ICU due to an infection in February 2020. Fortunately, before the next infection (any infection can claim the life of an SMA- especially type 1 - child) she was selected for a novel drug (a product that serves previously unmet medical needs or significantly helps to advance patient care) under compassionate use grounds. After 8 months of treatment, now the child has started meeting milestones. She now sits for half an hour. She attained neck control and has started to roll about. Most important, no respiratory infection was reported after starting the treatment," Dr Razeena said.
She said novel drugs make a huge difference in the lives of SMA children. "In the natural course Diya was expected to have more serious complications. But she was saved with access to medicine whereas Ruvantika, comparatively healthier than Diya, suffers from more serious problems. I have observed remarkable progress in five children who received the novel medicine in Kerala. These medicines are not only lifesaving, they are life changing too. They are able to lift our children from wheelchairs/confined to bed-stage to self-dependent, dignified life," explained Dr Razeena.
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