The serious and rare illness of little Indi Gregorywho died today at just 8 months old, “it was already diagnosable in utero: with an ultrasound you already have the first alarm bell then we proceed with the examination of the exome – the part of our DNA that makes us up – on the amniotic fluid and on the parents’ blood for the necessary bioinformatic comparisons. With this test the diagnosis would have been made perfectly and this great anguish due to his suffering which has kept us all in suspense until today would have been saved.” Claudio Giorlandino, president of Sidip, Italian Society of Prenatal Diagnosis and Maternal Fetal Medicine.
“Only today, when the natural event has brought to completion what was already written, can we comment on what happened with serenity and sadness. Then she was the carrier of a very serious genetic form which determines the total and irreversible inactivation of the mitochondria of various organs and systemspreventing cells from surviving and this happens especially in brain cells since in the brain these, more than all, need the mitochondria, the organelles that produce energy, to function perfectly”, explains the expert.
“So one must imagine how this little girl progressively transformed into a purely vegetal being and how cruel it was to keep her alive against all logic and humanity, only prolonging that suffering, which even such a neurologically compromised organism, devoid of rational conscience, it could still perceive from a sensorial point of view. There would have been no cure either in England or in any other country“.
“The pathology from which little Indi was suffering causes clearly visible damage to the brain. The prenatal phenotype presents very visible ultrasound signs at the brain level: such as voluminous colliquative cysts, ventriculomegaly, thin corpus callosum, mega cisterna magna and large cavities. Even though the great limitations of British maternal-fetal medicine are known and documented by the European studies Europeristat, it is surprising that they have not noticed them. Prenatal diagnoses of such evident brain pathologies, in our country, are also within the reach of first-level centers and gynecologists still in training. Obviously these pictures are then directed towards specific in-depth studies to reach diagnostic clarification”, adds President Sidip.
“Recently, one last case reported in the literature at the end of November last year was perfectly diagnosed with the Whole Exome Sequencing method on amniotic fluid, at the Nizam’s Institute of Medical Sciences in Hyderabad, India. Here the parents did not request the termination of the pregnancy but , well informed about the inexorable end and terrible suffering of these creatures, decided together with the doctors that the little one should return peacefully to the heavenly Father, without medical assistance or fury, without international disputes and without any media hype, after just 3 days from birth”, concludes Giorlandino.
#Indi #Gregory #case #girls #illness #entails