KOCHI, India, July 15, 2021 / PRNewswire / – Spinal muscular atrophy (SMA), this rare disease has been in the news in recent weeks where a sum of Rs 18 crore was raised through crowdfunding for the treatment of a one-and-a-half-year-old boy with ADS in Kerala. Following this proceeding, donations from the public for the treatment of two other similar cases were solicited. the 18 crore drug therapy offers only a partial cure for the patient, but the chances of the disease recurring are very high among future generations of his family. The aspect that there is a possibility of avoiding the need for such a staggering amount is knowledge that demands public attention. As there is no cure or effective treatment, Genetic Counseling becomes very important in the management of this disease. Therefore, experts at the Craft Hospital & Research Center stress the importance of genetic counseling, genetic testing, and genetic diagnostic testing as to when and where they should be applied to prevent these devastating conditions of SMA.
The technology has now developed at par where individuals can be screened for any genetic disease before marriage, after marriage, before planning a baby and even after the birth of a baby with a genetic disease to avoid the same condition. during future pregnancies. Testing the couple or baby will yield all of the information stored in the three million base pairs of an individual’s DNA. Above all, genetic testing during preconception and postconception is of greater help in discovering the risk involved in future pregnancies.
Most couples are not aware of the risk of having a child with AMS until they have a child with AMS or the result of the screening for carriers of AMS is positive. The risk calculation indicates that it affects 1 in 4 children but practically, if the parents are carriers, then all of their children can have ADS. In such scenarios, many emotional and psychological aspects are involved and the financial burden poses a threat to taking good care of these children. Craft Hospital & Research Center successfully treated three pregnancies for these couples with SMA through preimplantation genetic testing (PGT). IVF PGT-M treatment helps identify carrier status and if there are normal disease-free embryos available, they can be placed in a mother’s uterus so that SMA is eradicated from the family and now the next generation will also be completely disease free.
“It has been truly unfortunate to see the increasing number of spinal muscular atrophy (SMA) in our condition. It is said that there are around 102 reported cases in the condition suffering from SMA, of which only a few have received the treatment. under the compassionate use program extended by the pharmaceutical companies. In addition, we have also been able to see cases where children have died from this SMA disease that have in fact not been reported. On the other hand, the drug itself is so expensive and many families are unable to afford the treatment. – Therefore, we believe it is our responsibility to use the right technologies and techniques that will help to eradicate the genetic burden of families and societies, so that families later do not feel pressured to buy such an expensive drug to cure their children, “commented Dr Noushin Abdul Majiyd, chief reproductive medicine consultant and director, Cr aft Hospital.
“We agree that preimplantation genetic testing is expensive, but if we compare with the current scenario, the PGT options outweigh the benefits over using drugs to cure AMS which is much more expensive. and top notch technologies were only available overseas, but we are doing this in our hospital with more success in the last 10 years. We have also reported many successful pregnancies without genetic disease and babies in good health thanks to PGT technology which eradicated thalassemia, citrullinaemia, Tay Sachs, Duchenne muscular dystrophy and many more. from SMA ”, said Dr. Abdul Majeed, medical director, artisanal hospital.
“Prevention is better than cure, so screening is an important way to find out if an individual is at genetic risk, which ultimately helps produce a healthy baby. We have successfully treated Ms. Safya Rahmathullah who had a typical history of genetic disorders. She had a baby with ADS who died at 8 months old. Her second baby was also tested with SMA at 16 weeks gestation and then had an abortion. When she arrived at Craft, we advised her on the option of IVF ICSI and PGT-M to isolate the healthy embryo and then transfer a healthy embryo resulting in a perfectly healthy baby who is now 1 ,5 years. The patient is ready to come for a second transfer because he has a healthier, disease-free embryo, ”said Dr. Ritu Hari, Chief Medical Geneticist, Craft Hospital.
Craft Hospital is available 24/7 for any questions relating to genetic disorders, contact us by calling +91 9544180005.
About Craft Hospital & Research Center
Offering the most comprehensive infertility treatment through quality-oriented, results-oriented and completely ethical practices, Craft has successfully treated more than 55,000 childless couples to date. Craft specializes in the research and treatment of fertility and is home to a team of experts and specialists who are dedicated to helping couples combat and overcome infertility issues. With fully-fledged departments at the forefront of technology in gynecology and obstetrics, infertility, embryology, medical genetics and PGD, pediatrics, fetal medicine, laparoscopic surgery, neonatology (level 4), urology, pediatric surgery and diagnostic imaging, The boat is well equipped and equipped with a wide range of the latest diagnostic and therapeutic equipment.
Artisanal Hospital & SOURCE Research Center