Sturge-Weber Syndrome Community

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confussed
Hello, I'm not sure if I came to the right place with my question, but at least it is the best I was able to find.
I recently discovered that my mother once had a little sister with a big red birth mark starting at the beginning of her hairline going upwards. From what I was able to collect, this child reached the usual milestones at first, but as she grew older, the mark on her head grew along with her and she began to deteriorate. She was six years old and practically a vegetable when she passed away in a home for children with special needs.
My mother is very sensetive to this topic and never told me anything about her sister. The little I discovered was gathered from a tounge slip from someone outside.
From what I gather, it is beleived that the mark was also apparent in the inside of the child's head, thus damaging key organs, but being so many years back, the child never recieved a diagnosis at all.
I am also aware that my grandmother gave birth to this baby after being warned by doctors that her body is too weak to take another pregnancy and she is therefor blaming herself for giving birth to a sick child.
I am trying to get to the bottom of what my aunt might have had and whether there is a risk for me to have a baby with the same deffect. I am thinking of three possibilities: 1- Weber Sturge Syndrome, 2- a benign tummor on a bad spot or 3- Being that she was Ashkenazi Jewish, I'm considering she might have had Tay Sachs + an unrelated birthmark.
I would appreciate if anyone out there can help me make light of the subject or at least direct me to a better source where I can gather information. In addition, is anyone aware of a website which by entering information on symptoms, they will give you a choice of possible diagnosises to consider?
Thanks
There are many sources out there that offer a variety of information: www.nlm.nih.gov/ , http://medlineplus.gov/ ,
www.ncbi.nlm.nih.gov/entrez/query.fcgi

I am not an expert in any medical field what-so-ever, however, I'm not sure you will be able to find a definitive answer at all. You will most likely find that some diseases have very similar symptoms but are totally different disorders. For example, we just discovered the striking similarites between symptoms of SWS and WMS. Without the aid of medical records, testing results, photographs, etc. and the complete cooperation of the parents and/or the actual patient - an absolute accurate diagnosis is unlikely. Also, depending on the length of time that has passed, and the ability of new testing to help determine a diagnosis, any answer now would most likely be based on speculation, especially since you mentioned that the child is deceased and never received a diagnosis. This makes your search for an answer even more challenging. Sorry I can't be of more help.
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