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Does anyone have a child with Fabry Disease?

My 3 year old is being tested for Fabry disease and i just wanted to know if anyone had a child with it or knows some personal info about it. I can search all day long and gets lots of medical jargon, but I was interested in some more personal accounts. Thank you.

Answer Question

Asked by Anonymous at 10:25 PM on Dec. 8, 2008 in Kids' Health

Answers (2)
  • Symptoms
    Symptoms include anhidrosis, fatigue, and red spots on skin. Some of the most common pathological symptoms includes skin lesions (angiokeratomas), and a burning pain of the extremities. This pain can become very intense, especially when one has a fever. Angiokeratomas are tiny, painless papules that appear at any region of the body, but are predominant on the thighs, buttocks, lower abdomen, and groin. Ocular involvement may be present showing cornea verticillata (also known as vortex keratopathy); this corneal whorling does not have any effect on vision or eye function. Symptoms are typically first experienced in early childhood and can be very difficult to understand; the rarity of Fabry disease to many clinicians sometimes leads to misdiagnoses or ignorance. Manifestations of the disease usually increase in number and severity as an individual ages.


    Answer by kim168 at 8:41 AM on Dec. 10, 2008

  • i don't have a child w/ this just thought i would google it , my youngest daughter does have these lil bumps on her bottom and they go away and then new ones come back we have asked my ped about this every time we go in but she says they will go away so i take her word for it....

    Answer by kim168 at 8:45 AM on Dec. 10, 2008

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