Discussions By Condition: Medical Stories

Lipoid proteinosis

Posted In: Medical Stories 2 Replies
  • Posted By: Anonymous
  • March 2, 2010
  • 05:19 PM

my daughter was diagnosed wit lipoid proteinosis when she was 7. she is now 14. it began the moment she was born her cry was very hoarse and i could barely hear her. as she got a little older she developed sores on the inside of her lower lip. it looked like cold sores. they were white and hard. her doctor told me it was because of her pacifier and once she gave that up they would go away. they didnt. i told the doctor about her hoarse voice. he said she isnt using her true vocal folds and sent her to a speech therapist. she went to speech therapy where they tried to teach her to speak in a light " good" voice, since she was 1 1/2 . after about a year of that the doctor said it was acid reflux and did tests on her for that. it came back negative with only slight reflux, so they put her on medication. still the hoarse voice continued and she was eventually sent to an ear nose and throat specialist. he sent her to another ent and that doctor did test upon test. at the age of 7 she had a biopsy done on her lip and vocal cords and trachea. thats when they discovered it was lipoid proteinosis. she hasnt had any seizures (knock on wood) but she does have tiny little scars all over her face and still to this day gets the sores on the inside of her lip. does anyone out there know anyone who has this rare disease?? i have never talked to anyone who knows of anyone with this and i would like to connect to someone who has at least heard of it. thank you

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  • my daughter was diagnosed wit lipoid proteinosis when she was 7. she is now 14. it began the moment she was born her cry was very hoarse and i could barely hear her. as she got a little older she developed sores on the inside of her lower lip. it looked like cold sores. they were white and hard. her doctor told me it was because of her pacifier and once she gave that up they would go away. they didnt. i told the doctor about her hoarse voice. he said she isnt using her true vocal folds and sent her to a speech therapist. she went to speech therapy where they tried to teach her to speak in a light " good" voice, since she was 1 1/2 . after about a year of that the doctor said it was acid reflux and did tests on her for that. it came back negative with only slight reflux, so they put her on medication. still the hoarse voice continued and she was eventually sent to an ear nose and throat specialist. he sent her to another ent and that doctor did test upon test. at the age of 7 she had a biopsy done on her lip and vocal cords and trachea. thats when they discovered it was lipoid proteinosis. she hasnt had any seizures (knock on wood) but she does have tiny little scars all over her face and still to this day gets the sores on the inside of her lip. does anyone out there know anyone who has this rare disease?? i have never talked to anyone who knows of anyone with this and i would like to connect to someone who has at least heard of it. thank youhi my x husband had this lipoid proteninosis they told him that he got it because his mum marry her uncle i dont kmow were you live but the best person we find who knew a great deal is a professor john harper he works at the portland hospital in london also at great ormand street hospital in london i had two chilren by him which were ok but now am worried because now my son and his girlfriend are now having a baby do you know if it can be passed on
    Anonymous 42789 Replies Flag this Response
  • Hello! I just read your post about your daughter having LP and thought we could share some information with one another. I was diagnosed with this annoying disease as a young child and am now 25. :) I have bilateral calcifications on my amygdala, which could cause epilepsy, but I haven't had any problems in that department. I often get the painful sores in my mouth, but I haven't experienced any skin lesions for several years now. As a child, I had several polyps removed from my vocal folds, which helps a bit with the hoarseness, but I don't think there's any cure for the hoarseness. I'll write some more later!
    Anonymous 42789 Replies
    • January 19, 2011
    • 03:22 AM
    • 0
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