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I took your advice and contacted Dr. Kevin Flanigan. Once he receives my reports and looks them over he agreed to speak with me. Hopefully I can learn a great deal about the mutation my son has.
I just learned that I am a carrier of this mutation. Floored me since no one in my family has ever had the disease. Brought up a whole new set of issues with my other children.
With Nicholas's mutation there were also several other hemizygous sequence variants detected. The report said they were found in patients and unaffected individuals, and are interpreted as unlikely to be related to disease. But since I know I am a carrier, I wonder if this has problems for my other children as well.
Can you shed some light on this at all? What can you tell me about a splice site mutation or an intron for that matter. I feel so in the dark about all of this. Its a lot to handle all at once.
His sequence analysis said it had not been reported but is likely to alter normal splicing and thus, it is considered to be a disease causing mutation.
About the conference.....Do they charge for these and how do you RSVP? |
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Stacy |
