‘Test your genome patri before your janam patri’

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 highrisk 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 kidsAlpana Sharma CureSMA Foundation India seen with husband Nishant and son AaravSpeaking to midday Alpana Sharma cofounder director Patient Advocacy CureSMA Foundation India a support group floated by SMA childrens parents and whose son is SMA type 2 said ldquoSpinal 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 marriagerdquoShe added Spinal Muscular Atrophy is the number one genetic killer of infants and young children with 1 in 6000 children diagnosed each year We can stop SMA by genetic screening Get your genome patri tested even before the janam patri match is doneAlpana 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 IndiaSharma says that if both parents are carriers they have a 1in4 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 partners 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 saidAbout 1 in 6000 to 1 in 10000 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 yearold 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 companyDiya Shankar two and half months is SMA type 1 and is fotrtunate to be getting compasinate life saving treatment for free in KeralaSoorya said ldquoDiya 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 Diyas limb movements slowed Doctors at Alleppey Government Medical College stated it to be a case of Acute Inflammatory Demyelinating Polyradiculopathy AIDP commonly known as GullianBarre 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 TrivandrumSoorya 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 saidldquoI 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 importedrdquo 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 childComparison between SMA children with and without medicineDr Razeena coFounder 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 hasnt and stressed on the need of medicinesRuvanthika 4 year old and Kavipriyan 25 years are SMA sibblings from Tamilnadu Ruvanthikar is on non invasive ventilator support fighting for lifeShe said ldquoRuvantika 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 recentlyIn 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 saidShe 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 wheelchairsconfined to bedstage to selfdependent dignified life explained Dr Razeena