Hi, I posted the below under the topic summary "newly diagnosed" and someone suggested I try posting it under families as well to see if I get a response, so here goes:
My 4 year old son had a postive fecal fat (sudan stain) test indicating malabsorption, a negative sweat test but has a heterozygous DDF508 mutation. We are waiting on the Ambry amplified results to see if there is another.
His only GI symptoms have been foul-smelling, floating stools (not necessarily bulky) and reflux. He has gained weight appropriately (although he is very lean) and is very tall for his age (42 inches). He usually stands a head above his peers. He has never had any respiratory issues other than seasonal allergies.
His most serious issues, however, are severe verbal apraxia and sensory integration dysfunction. It's a long story, but we learned about 9 months ago that the symptoms of Vitamin E deficiency mimics my son's issues (loss of position sense, loss of vibratory sense, loss of pain sensation, dysarthria, etc). From the first dose of 200IUs d-alpha tocopherol and 200mg d-gamma, his major sensory issues vanished as long as he was continually supplemented (we are at much higher doses now). It seems to "wear off", even though I know Vit E is supposed to be stored. It apparently isn't stored in him. The apraxia (my son is non-verbal. Apraxia is a motor planning problem - like that of a stroke victim that loses the ability to speak. He knows the word in his head, he just cannot make the message get from his brain to his mouth). Motor planning is highly connected to essential fatty acid metabolism, so he is likely suffering from a deficiency in that as well. There is nothing wrong with him cognitively and he is not autistic.
When he responded to the Vitamin E supplementation we had the stool analyzed. When that came back positive indicating malabsorption we had the CF testing done. We were shocked that he came back with the one deletion and am praying there isn't another found.
I've found a body of scientific CF literature that deals with not only malabsorption but also oxidative stress that inhibits the bodies' ability to properly metabolize Vitamin E and essential fatty acids.
FINALLY, MY QUESTIONS: Is anyone familiar with another case like my son's, where Vitamin E-induced neuro-sensory issues played a major role in their CF? Is anyone familiar with the research on Vit E and essential fatty acids I referenced above? And one more - is anyone familiar with a metabolic or CF specialist that could possibly help us (it doesn't matter where they are located). I know that sometimes message boards have a "hero" doctor that is often referenced.
My 4 year old son had a postive fecal fat (sudan stain) test indicating malabsorption, a negative sweat test but has a heterozygous DDF508 mutation. We are waiting on the Ambry amplified results to see if there is another.
His only GI symptoms have been foul-smelling, floating stools (not necessarily bulky) and reflux. He has gained weight appropriately (although he is very lean) and is very tall for his age (42 inches). He usually stands a head above his peers. He has never had any respiratory issues other than seasonal allergies.
His most serious issues, however, are severe verbal apraxia and sensory integration dysfunction. It's a long story, but we learned about 9 months ago that the symptoms of Vitamin E deficiency mimics my son's issues (loss of position sense, loss of vibratory sense, loss of pain sensation, dysarthria, etc). From the first dose of 200IUs d-alpha tocopherol and 200mg d-gamma, his major sensory issues vanished as long as he was continually supplemented (we are at much higher doses now). It seems to "wear off", even though I know Vit E is supposed to be stored. It apparently isn't stored in him. The apraxia (my son is non-verbal. Apraxia is a motor planning problem - like that of a stroke victim that loses the ability to speak. He knows the word in his head, he just cannot make the message get from his brain to his mouth). Motor planning is highly connected to essential fatty acid metabolism, so he is likely suffering from a deficiency in that as well. There is nothing wrong with him cognitively and he is not autistic.
When he responded to the Vitamin E supplementation we had the stool analyzed. When that came back positive indicating malabsorption we had the CF testing done. We were shocked that he came back with the one deletion and am praying there isn't another found.
I've found a body of scientific CF literature that deals with not only malabsorption but also oxidative stress that inhibits the bodies' ability to properly metabolize Vitamin E and essential fatty acids.
FINALLY, MY QUESTIONS: Is anyone familiar with another case like my son's, where Vitamin E-induced neuro-sensory issues played a major role in their CF? Is anyone familiar with the research on Vit E and essential fatty acids I referenced above? And one more - is anyone familiar with a metabolic or CF specialist that could possibly help us (it doesn't matter where they are located). I know that sometimes message boards have a "hero" doctor that is often referenced.