I know this test probably doesn't make much sense to most of you but I am going to copy parts of an article for you so you understand it a little bit.
"Genes are made up of the genetic material called DNA. DNA is the code for all life and is made up of a combination of 4 ‘letters’ - A, C, G and T. Scientifically, these genetic letters are called ‘nucleotide bases’.
The HD gene provides the code for the huntingtin protein, and everyone inherits two copies of the gene - one from each parent. The genetic mutation that causes HD is a long sequence of repeated C-A-G nucleotides in the HD gene.
The number of CAG repeats in the HD gene determines whether or not someone will develop HD during their lifetime. Everyone has two copies of the HD gene - one from their father and one from their mother. HD testing involves measuring the CAG repeat length in both HD genes of an individual, using DNA obtained from a blood sample.
The number of CAG repeats in an HD gene can range from less than 10 to more than 120. The average number of CAG repeats is around 17. HD is a ‘dominant’ disease, which means that an individual only needs one of their two HD genes to have a larger-than-normal number of CAG repeats for them to develop the disease.
If both copies of a person’s HD gene contain 26 or fewer repeats, they will not develop HD, and nor will any of their children.
and
If one copy of an person’s HD gene has 40 or more repeats, they will develop HD in their lifetime, and each of their children will have a 50% risk of inheriting the expanded HD gene."
(http://en.hdbuzz.net/027)
This test is the only way that Huntingtons can be officially diagnosed so even though multiple doctors have told us that Curtis has it we were waiting on these test results to confirm. Both the genetic specialist and I had guessed that his number would be in the 50s but we found out today that it is 47. They still do not know much about how your cag number effects when the onset of symptoms will occur but they seem to be related. Everything is so variable in this disease that most of it still seems like we are all just making educated guesses. Hoping and praying that there are more solid answers by the time my kids take this test.
So we are very glad the test is done so that we can start on the process of getting him on disability. But other than that we only found out frustrating news about the referral to the huntingtons center. They need our primary care doctor to write a referral as well. Curtis has had three appointments that have all been rescheduled at the last minute so we were hoping to skip this. Please pray for wisdom in how to get this part done. We are really wanting to get into the center soon so he can see the physical therapist and anyone else that can help with symptoms. They also have a social worker there that can help us through all the paperwork.
I wanted to take a moment to say thank you all so much for your prayers and support. We shared a need on facebook this week and were blown away by the generosity of friends and family. We are so blessed! Its amazing to see God using people to help us through this everyday. At a womens retreat I got to attend a few weeks ago one of the speakers mentioned how we need to be there to hold up the arms of our friends during battle and let me tell you, we can feel hundreds of our friends and family from near and far holding our arms up.
Whenever we have appointments and whenever we can in general Curtis and I like to have fun and try to laugh and be silly together. Our everyday lives are so exhausting and serious lately and we do not get much time together. So here are some pictures of our day... and yes there is always food and coffee involved.
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