Saturday, April 23, 2011

A Mutated Gene Has Been Found!

Good news, bad news?  I'm not quite sure.  There are still many unanswered questions, but at least we finally have a definite step to follow and research.  OK, bear with me, this is a little difficult to explain (this goes way beyond what I ever learned in Biology!), but I will do the best that I can.  When we saw Dr. Narayanan  last Wednesday afternoon I got some very interesting information.  As of that morning, only 4 of the 5 gene tests for AGS had come back...all of which were negative.  So before we got up there, Dr. Narayanan got a hold of the person who was doing the gene testing and asked if he had the final results.  He said that he did, but they were a little confusing.  What he found was one mutation on the least common of all the AGS causing gene symbols (SAMHD1).

Now, the strange part about that is that AGS is an autosomal recessive disorder, meaning that in order for a person to develop the disorder he/she must receive a mutated gene from each parent.  Two total.  In Anna's case, only one was found which normally would be a sign that she is a carrier.  However, if she was just a carrier, she would not have any of the symptoms...which obviously is not the case.  So, where is the other mutated gene?  Well, Dr. Narayanan explained that one of two things could be going on here.  1)  She is just a carrier of this particular disorder and what she and Bryce actually have is still something totally different than what we have found, or 2) There is a deletion of a gene.  Now, as far as I understand it, this means that there is a gene (or exon, maybe?) that is completely missing.  The trouble is that these deletions do not show up in genetic sequencing and there is currently no clinical test to determine if there is a deleted gene.  Dr. Narayanan said that this may be his next find a way to determine if there is a deleted gene and what it is.

So, where do we go from here.  Well, we signed some forms and sent them to the gene sequencing person (sorry, I don't know what he is called) and Dr. N sent off the blood he has stored for Bryce, John, and I.  They will first test Bryce to see if he has this same gene mutation.  If not, we will figure that Annalise is a carrier of AGS and we will continue on our search. They will also test John and I to see which of us is the carrier.  If Bryce does have the mutated gene, they will test John and I to see where that particular gene is coming from, and go from there.  Hopefully we will have the results in 3-4 weeks. Until that time, I will try to keep from going crazy with the what-ifs of it all.  My brain has been spinning since Wed.  Luckily we keep very busy these days so time should go quickly.  Then we can deal with whatever is found.  I will definitely keep you posted!


Jennifer said...

Tammy--I don't know how you do it! I can't even imagine being in your shoes. I'm sure Easter Sunday has a very special meaning for you in light of all your family is experiencing here in mortality. I hope that the knowledge of the resurrection brings you peace and hope. I always remember what Elder Wirthlin said, "Sunday will come." Oh how I wish I could do something else other than donate money and pray. Please let me know if there is ANYTHING we can do!!

The Hauer Family said...

Wow!!!That is quite some news!!! It is hard to know what to do with that kind of news, but hopefully it will be something you/all those out there w/leukodystrophy will find useful and can be built on for some help for our kiddos! I'm waiting for the last PMD test (should get it Monday.) Is Dr. N suggesting all these tests?

Tammy said...

Yes, Dr. N is the one who is suggesting the tests. He has believed it was AGS from the beginning even when all of the normal testing for it was coming back negative. This set of tests that we have done now were not approved for payment with Bryce, so when Annalise began with symptoms, he jumped a few extra hoops and got insurance to cover it for her. He is such a great doctor. He will just not quit until he has an answer. He is also great at thinking outside the box. I am so glad that we have both found him. I'll be thinking about you and Ryder on Monday. I was wondering if you had heard anything more on that. Please let me know what you find out!

And yes, Jennifer, the true meaning of Easter has become much more personal over the last couple of years! We cannot wait until that Sunday comes!

Claytons Quest said...

It sounds like you have a wonderful Dr. who is willing to keep searching..... some answers is better than none.... We as always will keep you all in our prayers and have faith the right answers will come. HAPPY EASTER MORNING....

XSLT said...

Here is the website for more information & post message at guest book.

other families of AGS kid, can answer


AGS parents yahoo group:

Tammy said...

Thank you so much XSLT for that information. I had not seen the yahoo group. I just checked it out and it looks great. Thank you for your help.

XSLT said...

My daughter also diagnosed with SAMHD1 (AGS5)
She is 6 years old, she is doing OK now.

Tammy said...

Really?! I would love to talk more with you. Please email me at when you can.