Here's an artical about some research:
http://corechar.php5.truth.posiweb.net/Richard-Lindley.html
Saturday, June 11, 2011
Wednesday, February 2, 2011
CAR STICKERS ARE HERE!!!
I've got the first batch of car stickers and am ready to sell them! They are $5 USD (which includes shipping). All proceeds go to Aravinda Chakravarti's Lab at Johns Hopkins University for the 15 year ongoing Hirschsprung's Disease research study. Check out the website for the study at: http://chakravarti.igm.jhmi.edu/AravindaChakravartiLab/Hirschsprung_Study.html
If you or your child has not participated in the study, I would recommend doing so. Every piece of information we add helps us solve the puzzle. I am a participant in the study as well.
Please comment here with your e-mail address along with how many you would like and I will contact you. Here is a picture of the sticker:
Saturday, January 22, 2011
LATEST HD GATHERING!!!!!!
Just got this from Angie Murdie-Beasly. I hope you all can make it there!!!!
Come out and join us for a fun night to celebrate Landon's success and to support Hirschsprung's Disease Research.
WHEN: February 26, 2011 9pm - 12
WHERE: Tom Kelly's New Lenox
495 Degroate Road
New Lenox, IL 60451
(815) 462 - 8420
Come out and join us for a fun night to celebrate Landon's success and to support Hirschsprung's Disease Research.
WHEN: February 26, 2011 9pm - 12
WHERE: Tom Kelly's New Lenox
495 Degroate Road
New Lenox, IL 60451
(815) 462 - 8420
COST: Benefit is open to the public. Attendees who want bar package is a $30 donation.
We will have raffle items, split the pot, t-shirts for sale and a band. Come out to show your support and help us find a cure for this childhood disease!
ALL DONATIONS GO TOWARD THE JOHNS HOPKIN'S HIRSCHSPRUNG'S DISEASE RESEARCH FUND!!!!!
It's all in the Genes!
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! :-)
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! :-)
Friday, January 21, 2011
Car Signs Coming!!!
With the help of Angie Murdie (and using the design of Sara Jones) - thank you ladies! , I have ordered the first batch of vinal car sticker clings to sell. Proceeds will go to Johns Hopkins University through Angie Murdie. They will be in the shape of a yield sign. Here's what they will look like:
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.Monday, January 3, 2011
HAPPY NEW YEAR!
Right-O...well...starting things off right with my New Year's Resolution of utilizing said blog, here I type. For the last few years I've given myself resolutions that are fairly easy to obtain. This year, I'm not specifying a resolution. I will just try to do my best, enjoy life, and spend more time with family and friends.
The New Year started off crappy for me....I have an upper respiratory infection. Got an antibiotic from my doc and feeling better already! Onward & Upward!
I hear tell of a Hirschsprung's gathering in February just outside of Chicago. I'm planning to go (weather permitting) and trying to look into having some car stickers made up for the event.
I will try to get more details and post on here!
Again...Happy New Year!
Thursday, December 30, 2010
Happy New Year!!!!!!!
Just wanted to say Happy New Year! It's been awhile since I blogged, but I'm making a 2011 resolution to do it more! :-) A New Year is time for a fresh start....a fresh year...with much hope for the coming year. Peace, Love, & Hope to all! :-) Love, Brenda & Family
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