Gaucher's Disease

[tpotter]

Has anyone heard of this, or had any dr. mention it? I was doing a search of some symptoms that DS has had (enlarged spleen, liver, low wbc), and that's one of the things that came up (we're seeing a hematologist in the next few weeks per our LLMD's recommendation, because of the spleen continuing to be enlarged.) It was very interesting that the description mentioned possible seizures, myoclonus, and of particular interest is they say that it is considerably higher in an Ashkenazi Jew (from German descent). I'm not saying that he has it, but there were an awful lot of similarities, and I'm just curious if this could, potentially, be part of the picture.

[911RN]

Has anyone heard of this, or had any dr. mention it? I was doing a search of some symptoms that DS has had (enlarged spleen, liver, low wbc), and that's one of the things that came up (we're seeing a hematologist in the next few weeks per our LLMD's recommendation, because of the spleen continuing to be enlarged.) It was very interesting that the description mentioned possible seizures, myoclonus, and of particular interest is they say that it is considerably higher in an Ashkenazi Jew (from German descent). I'm not saying that he has it, but there were an awful lot of similarities, and I'm just curious if this could, potentially, be part of the picture.

 

Yes, I've heard of it. Has never been mentioned for my child but we don't have any of those issues- enlarged spleen, liver etc. Genetic testing is definitive for this. Not sure how long I would go down a winding road of tests to prove or disprove if simple genetic blood test can tell you for certain. Just a thought. Hopefully, hematologist will order testing, have answers or refer you to Geneticist.