It's taken me a while to want to sit down and type this out, but I finally found the free time and the desire. :-) I know many of you have wondered about the results. Here it goes:
Soooo.....in November, I was tested for the
FMTC (familial
medullary thyroid carcinoma) gene and it was NEGATIVE!!!
WHOO HOOO!!!! After a 2 1/2 hour counseling session with the
UIHC genetics team, I opted to have the
lab work done. I needed to know if I carried a gene that could harm myself and/or my children. I already had (in hand that day)
pre-approval from my insurance company, so I decided to go ahead and have two tests done: 1)
RET gene sequence analysis and 2) Chromosome
micro array analysis. It was a LONG month's wait as the
blood work had to be sent to California for testing. Cost of the tests were 1) $1,800 and 2) $2,000 respectively. I didn't care about the money when it came to knowing my kids were not at risk for this very dangerous type of cancer. In the end, my insurance
followed through and my bill came. It was only a $15 co-pay. I was relieved. :-) My
RET gene did NOT contain any mutations or variants. :-) This means that I most likely do not have
HD because of a problem with my
RET gene. The
CMA test did show a "novel" deletion of 4q31.3 which contains two genes: MAB211.2 and
LRBA.
HD has also been related to variants on Chromosome 4, so this makes sense with
HD. The results read, "There is limited information about these genes and their functions at this time" and advises me to "touch base with the Genetics Clinic in about 5 years, as we will likely have more information on the deletion of unknown clinical significance identified on her
CMA testing."
Jer suggested I forget about it and, "just live." I think that's good advice, but I like knowing what is missing so I can attempt to keep watch on studies, etc. on my own. :-)
After 30 years. I have an answer. No physician has ever been able to guarantee the length of my life, the quality of my life, what to expect in years ahead or even WHY I have
HD. My surgeons have all said that my organs are somewhat deformed looking and pushed around. I suffer with the aftermath of
HD & my other birth defects daily. That's the only facts I've known thus far. I am so happy to know that my DNA has been taken apart strand by strand, link by link. I know that I don't have a problem with my
RET gene. I know I have a deletion on Chromosome 4. I have ONE answer....a well deserved answer after 30 years.
Here's to suffering less and living more in the next 30 years! :-)
Car signs will be available for purchase through paypal and we will also have them to purchase at Angie's HD get together near Chicago, IL on February 26, 2011. I will post details on the event once I have them.
