Leukodystrophies Support Group

Leukodystrophy refers to progressive degeneration of the white matter of the brain due to imperfect growth or development of the myelin sheath, the fatty covering that acts as an insulator around nerve fiber. Myelin, which lends its color to the white matter of the brain, is a complex substance made up of at least ten different chemicals. The leukodystrophies are a group of disorders that are caused by genetic defects in how myelin produces or metabolizes these chemicals. Each of the leukodystrophies is the result of a defect in the gene that controls one (and only one) of the chemicals. Specific leukodystrophies include: adrenoleukodystrophy, neonatal adrenoleukodystrophy, metachromatic leukodystrophy, Krabbe disease, Pelizaeus-Merzbacher...

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Metachromatic Leukodystrophy

My (almost 5) year old daugher was diagnosed just after her second birthday.

She has the infantile form and has not had a BMT (too far progressed).

The only abilities she has left is hearing and smile response.

Replies

deleted_user
deleted_user

my son had x link adrenalukodystrophy we knew from birth he was a healthy active child he has a brother 2 years older and not does not have the ald at age 6 the doctors told us our worst fears alyhough he was on lorenzos oil for years it made him sick on his stomach his wite matter was receding having lived through this before with my brother and my uncle i new what was to come so we decided we try the bone mara trancplant his brother 8 at the time was his doner at first things look great then the terble pain began i sugest several times that they please give him a ct scan they passed me off as the overprotect mother when it was to late and my son finaly the cat scan the found that the doner crlls had took over and had already distroyed over half of his intestenes and bowls its called graft verse host they could not controll his pain so they put him in a coma 43 hours later he no longer had any breathing or brain function that was the hardest dicision of my life he went to 2 hours later in my arm i am sorry this is the first time iv realy spoke on the things that i feel if they would have listend to a mother with no college education maybe things would have been difert im sorry for rambling on ill stop now
deleted_user
deleted_user

God Bless each and every family I read on here. My heart goes out and thoughts and prayers are sent your way. My younger sister has leukodystrohy and I understand the battle.
deleted_user
deleted_user

I have 3 children with an unknown form of Leukodystrophy i would love to talk to another mom or parent that is going through the same thing it would be nice to be able to really talk to someone who knows what i go through and knows how it feels to have the fear of losing our children, So anyone interested in talking please feel free.
deleted_user
deleted_user

There is no reason for you to apoligize you were not rambling on, the things you went through is a mother worst fear and your are very right the doctors think becasue they have the college degree that they know our kids better than we do. We know when something is wrong with our kids just by looking at them thats all we have to do. I am soo sorry for your loss and i wish that your life could of been different. I wish that the doctors would of just listened but i do hope you know that this is not your fault and you did everything that a mother could do for her son. Well have a good day and just know if you need to talk im here.