On his last email to me, Hannah’s genetic doctor said that they will be sending off her fibroblasts from her skin biopsy once the cells have matured (or whatever they do) for a “full workup.” I looked up the website for the laboratory doing the study, and this is what they will be testing for. I just need to find time to go through all of these and see if Hannah’s symptoms may match something else as well as NPC and Gaucher’s. (Even though we know NPA and NPB have been ruled out via blood studies and Gaucher’s is “unlikely”).
| GM1 gangliosidoses GM2 gangliosidoses Fucosidosis α-Mannosidosis β-Mannosidosis Mucopolysaccharidosis VII Metachromatic leukodystrophy Krabbe disease Niemann-Pick Types A & B Multiple sulfatase deficiency Gaucher disease |
Hurler-Scheie syndromes Fabry disease Maroteaux-Lamy syndrome Sialidosis and Galactosialidosis Sialuria Sialic Acid Storage Disease and Salla Disease Mucolipidoses II & III Sanfilippo Type B Niemann-Pick Type C (requires loading studies) Wolman disease (chol. ester storage disease) Farber disease (requires loading studies) |
Yikes! you have a lot of research on your plate! Thinking of you!
I was reading Hannah’s story and it sounds similar to another blog I keep up with. Please check it out.
http://www.lifewiththeferrells.blogspot.com
Carrie,
Please email me at dunlap9499@gvtc.com
I would love to be in contact with you!