Happy Birthday to Me!

Since I'm not nearly as cute as my baby girl, we'll just leave the pictures out of this post.  Actually, we didn't get any pictures of today since I am the camera happy person and I was a bit occupied.

Today was a very busy day.  I am actually hoping to take a little time off tomorrow and relax for my birthday.  The day started by getting the older two boys off to school.  I will be so glad when this year is over.  Then I bathed the little ones, took a shower, and headed off to Annalise's well-baby check.  She has fallen a bit down the growth chart in weight , so we will be watching her weight over the next few months to make sure she does not fall too far below where she should be.
After that we had physical therapy for Bryce and Annalise, speech therapy for Annalise, and then at 1:00 I headed over to William's school for a presentation he and his classmates were doing.  I do have some pictures of that so I will have to post them soon.

By the time the presentations were over, there was only about 15 minutes left of school, so I just signed William and Jacob out and took them then.  When I told the lady in the office that I was going to do that, she said, "that's fine, but it will count as a tardy."  It kind of threw me off and what I said next still has me cracking up a little.  I totally looked up from what I was doing and said, "I don't care."  It wasn't mean or anything, but that is just what came out of my mouth.  I really just didn't care if they call it a tardy or not.  She quickly explained that some people do care and so she just wanted to make sure that I knew.  Thinking back to the whole situation, I hope she didn't think I was being rude or anything.  I've gotten to know the office staff quite well over the year, so hopefully it's all OK.  But honestly...I don't care.

Then I took the boys through the Sonic drive through and got a drink on the way over to pick up William's new glasses.  We don't often do that, so it was a nice treat.  William's glasses look good and fit much better...especially after John stepped on his old ones last night.  Luckily it didn't break them, but those poor glasses have been through a lot this year.  The new ones are nice!

We then headed to Fry's to get a few things and then home for dinner and cake.  On the way home I saw John heading out the other direction and soon found out that he was going to get my birthday card which he gave me when he got home.  It's not quite the new laptop I was hoping for (mine is having some serious issues), but the card is nice.

After dinner, we sat outside for a bit until it was time to get the kids ready for bed.  They are all in bed now, and I think I will be heading there soon.

So, I am 41 years old today.  When John asked me this morning how I felt, I told him, "not a day younger than 29!"  William informed me today that I will probably be a grandma in about 15 years.  Thank goodness they are still young...they help to keep me young!

The Email that made my Day!

Yesterday I received a wonderful email.  It was from a man named Professor Yanick Crow, who is from England.  He mentioned that he had seen my post on the AGS website and wanted to offer some possible help with the questions that we have.  Well, I looked him up here  http://www.manchester.ac.uk/research/Yanick.crow and after reading a bit about him, knew this is who we need to be in contact with.  I wrote back to him and said that yes, we would be very interested in having Dr. Narayanan get in touch with him to discuss our situation.  I emailed Dr. Narayanan about being in touch with Dr. Crow and he said,"This is absolutely great.  Dr. Crow is of course the leader in this field."  He said to go ahead and pass his email address on to him and sent a little write-up on where we are at as of now.  I'll add it here since it helps clarify things just a little bit.


Right now we have found one sequence variant in the SAMHD1 gene in both Bryce and Annalise (Dr.Hyland thinks this is a mutation rather than a benign variant).  It looks like they both inherited this mutation from their father.


The presumption is that, in order for them to have AGS, they would have to have a different mutation in the other copy of the SAMHD1 gene that they inherited from you.  This has to be something that is not able to be detected by the sequencing method used in Dr. Hyland’s lab.  There are certain types of mutations (especially deletions of large chunks or even the entire gene) that could be missed by traditional sequencing.  Which is why I thought that we should try to devise methods for searching for another mutation in Bryce and Annalise.

If Dr. Crow is able to do this type of testing (MLPA test), or if he has other ideas, then we can easily send him some DNA from Bryce and Annalise (and you and dad too).

So, I emailed this information to Dr. Crow and within a couple of hours I had a response saying that he had replied to Dr. Narayanan.  That was just before 10:00 last night.  I woke up at 6:00 this morning and saw that Dr. Narayanan had already sent me a message saying that he and Dr. Crow had already exchanged a couple of messages and that he was going to send Dr. Crow the DNA sequence information today and then he (Dr. Crow) would decide if he is able to test the DNA samples to locate another mutation (deletion).  I guess that he has a kit to look for deletions in SAMHD1, from a company in Europe, that won't be released to the general public commercially until December.  Can you believe that?!   How awesome is all of this that has taken place in less than 24 hours.  So, Dr. Narayanan asked if it would be OK for him to sent the DNA to him.  I of course wrote back and said that YES, it would be fine.  Now I will wait until I hear what is happening.  We are so excited that Dr. Crow took the time to contact us and we hope that he will be able to help us discover the missing gene.  

I have also been in contact briefly with 3 families who have children with AGS.  2 of which are actually here in Arizona.  It's amazing.  Please keep the prayers coming.  They are most certainly helping us to be in touch with those who we need to be!

Happy Birthday Annalise!

Today, our feisty little princess turned 2 years old.  We had a family party this evening to celebrate.

This was taken last Sunday and is one of the few times that she actually looked at the camera and smiled.  I love this picture of her.

Daddy bought this little tiara for her.

As you can see, she likes doing things her own way.

The tiara actually didn't stay on for long.

Just checking out the frosting.

She wasn't so sure of the candles...

but as soon as we started to sing Happy Birthday, everything was great.

Stuffing in the cake.

Annalise ripped this little hole in the paper and looked in.  She  could tell it was a doll.  Instead of opening it any further, she just kept looking through the little hole and saying, "doll" until her brothers helped her get the doll out.

She is such a girl!  She loves her purses, her pretties (hair bows) and babies.

She also loves her new Talking Dora backpack.

You can tell that Bryce really enjoyed hearing the backpack sing the song as well.

It is hard to believe that my baby is already two. She is just so fun and really adds to our family.  We love you, Annalise!

More Answers which lead to More Questions

Ok, so more answers, more questions.  I heard from Dr. Narayanan today about the DNA results from the latest tests.  Bryce tested positive for the same mutated gene as they found in Annalise.  Ok, so it looks like it is AGS.  So then they tested my blood for the same gene...negative, I do not carry that mutated gene.  Tested John, positive... he does carry the mutated gene.  So...yes something is going on, but what.  Dr. Narayanan believes we are on the right track, but it just doesn't make sense to any of us.  If it truly is AGS5, that is causing this regression in Bryce and Annalise, they must have 2 mutated genes...it's an autosomal recessive disorder!  So where is the other one?  He said that if they can find the other mutated gene in one of the kids, then they could test me for that and probably make a connection.  But so far, nothing else is showing up.

The really odd thing to think is that this still could mean that John, Bryce, and Annalise are all just carriers of AGS and what they "have" is something totally different!  Honestly I doubt it , but who knows.  Although ,as odd and unrealistic as that seems, that actually is what would make the most sense when strictly looking at the results that we have found.  AUGH!  It's totally mind boggling.  Dr. Narayanan said that he isn't sure what the next move should be.  He is going to think on it for a couple of days, talk to others in the team, and get back to us.  All I know is that something strange is going on with my kiddos and I would really love to find out what it is.