MR. MANAF
Message 1 of 1
Dear Readers My son is three months old and we suspect he is suffering from non progressive leukodystrophy, as we have been told by doctors. They say so because our 5 years old son is already brain damaged by this illness. We, husband and wife, are first cousins. Our elder son,Temoor, started having problems at the same age, 6 weeks and his symptoms and signs were feeding difficulty, irritability, excessive crying, hypertonia, vomiting, brisk reflexes, ankle clonus, Glaucoma in right eye. Feeding difficulty ultimately lead to nasogastric tube feeding for nearly 4 1/2 years and now gastrostomy+ fundoplication was done a month ago. All investigations were negative except generalized cerebral atrophy on MRI. MRI was done twice and picture was same, no improvement, no deterioration. Same picture on both MRI scans probably convinced the doctors to label it as non progressive. He, Temoor, elder son, is still on Baclofen suspension, having physio and OT. But he is still unable to hold his neck, unable to sit. His hearing is normal. He is short sighted in right eye due to congenital glaucoma. FAMILY HISTORY: History of Neuro axonal dystrophy and Non ketotic Hyperglycinemia in children of our first cousins. But in our elder son's case these conditions were excluded by the tests, as we have been told. Genetic councelors said it might be due to some rare genetic disorder and that it was autosomal recessive disorder. SO THIS WAS THE WHOLE STORY OF OUR ELDER SON. Now, our 3 months old son has started having same problems at the same age, with feeding dificulty, increased tone in arms,head circumference 39.5 cm, some head lag, irritability, crying. Could you please give us a clue, What to do, where to go, any geneticist, any gene therapy, any bone marro-transplantation centre????? Any other family having same illness?? Your help could save our 2nd son becomming brain damaged, which,if we don't act fast seems to be inevitable. Our email address is----> temoor@ntlworld.com Mr.Manaf from UK