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! :-)
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You are so strong. I hope when Landon gets older, he has the strength that you do. I pray everyday that I am doing the right things to keep him positive, like you. Good job to your great supportative family. What an inspiration for other familes! Thanks for sharing.
ReplyDeleteThanks Angie! I owe it all to my family, especially my mom who raised me & my sister by herself after my dad passed away two weeks before I was born. It's been a long road and "normal" for me still includes yearly ER visits and daily problems and still pain, but that's why I'm still an active participant in the HD battle. I'm hoping kids like Landon will have an easier time than I have had. I wish all HD patients would help us as they become adults, but many of them are too embarrassed to tell their story. I'm hoping with your example, one day, Landon will continue the fight (if we haven't won by then!) :-) I'll see you in a few weeks!!!
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