Wednesday, June 27, 2012

Tuesday, June 19th, 2012

A note from Mommy:

Today was the the much anticipated appointment with genetics.  Thanks to Dr Norlin for working with Dr Carey to get us in before February 2013!  I had already heard great things about Dr Carey ahead of time and I was not disappointed.

Dr Carey had been out of town and returned the night before our appointment.  But he didn't use that as an excuse - he was very well prepared.  He had already read more about Nager Syndrome, he had read the study carefully and had already contacted one of the doctors from the study (a personal friend) to request his help on getting more information.

He spent an hour and a half with us answering each and every question we had (much to Peyton's annoyance).  Dr Carey is the kind of doctor I love - enthusiastic about learning more about Nager Syndrome without forgetting that Peyton is more than just her syndrome - he interacted with her as well.

Dr Carey had looked through the chart in the study detailing the clinical symptoms to try to determine if any of them were Peyton.  And like me he decided none completely fit.  So at this point we don't know if her blood has been tested or if they used it as part of the clinical study.

The study concluded that about 40% of those tested had the same gene that is identified as causing Nager.  But that means there is a large percentage that didn't have the gene.  Could it be because they have been misdiagnosed?  Could it be that there are multiple genes that cause Nager?  We don't know that yet.  Here is what we are pretty sure about being that we have no family history of this syndrome.

Scenario 1:
If Peyton is tested and has the gene and it is recessive then that means it is recessive in both Travis and I.  That means we have a 25% chance with each pregnancy to have a child with the syndrome.  It also means that there is a higher likelihood that our siblings carry the recessive gene than the general public.  But it would be good news for Peyton because she would then have to meet up with a male who is also a recessive carrier to have any chance of passing it on to her children.  This is the most likely scenario.  If it is the case we would then have Travis and I tested to verify it is a recessive gene in both of us.  It is possible now that the gene is identified that we could have embryo screening (aka preimplantation genetic diagnosis) and "weed" out the embryos that have the gene.

Scenario 2:
 If Peyton is tested and has the gene and it is dominant then most likely that means it was a new genetic mutation.  That would be good for us because the likelihood of us having another child with the syndrome is what it would be for the general public.  Since there are so few diagnosed cases in the world that is almost impossible.  That would be bad for her because if it is a dominant gene she would be at risk 50% of the time to have a child with the syndrome.  It is highly unlikely that she falls into this scenario since neither Travis or I have any clinical symptoms indicating we have Nager Syndrome.

Scenario 3:
It is also possible that Peyton doesn't have the gene at all.  That could mean she is misdiagnosed (unlikely since she has all the major clinical symptoms) or that there are multiple genes causing the syndrome.

After all the information we are now back to waiting - we need to find out if Peyton's sample was even tested.  If not, we will need to get blood work and have her tested.  At that point Travis and I would probably get blood work done as well so we are all tested at once.

Technology is moving at such a fast pace and it is exciting to having more information.  It may not change our decision not to have more children but it will give Peyton an opportunity to make her own choices in regards to reproduction.  Who knows by the time she is having children insurance companies may pay for embryo screening figuring that is less costly than the medical costs of having a child with the syndrome?

Tuesday, June 26, 2012

Friday, June 15th, 2012

It's that time of year again.  The Wasatch Adventure to raise money for Hope Kids is just a few months away. Please join me in supporting me and all the other families to provide activities for the next year.

Here is the link to learn more:

Monday, June 11th, 2012

It was our final t-ball game and the end to a great season!  We were all so excited to get our trophies and we were not disappointed!  There was a plastic ball in the middle that spins and that is the height of cool for 4 and 5 year old's!  Traiton, Jackson and I had such a great time this year being together that it just won't be the same when I start girl's soccer in the fall without them.

Peyton Nicole Smith

Saturday, June 9th, 2012

Up until now I have been riding ponies at Resolution Horse Company but today I showed how big I was by riding Bisbee - a full grown horse!  I wasn't scared in the least but it was a good thing Daddy came along because the horse would have been too tall for Mommy to help keep me up on!

While we were riding along the road a man rode by on his four wheeler and stopped in front of his.  He asked if he could take our photo for some advertising to promote moving to Herriman.  So we all got close for some pictures.  So if you ever see a "welcome to Herriman" sign and we are on it you will know why!

Peyton Nicole Smith

Saturday, June 2nd, 2012

So I wasn't kidding when I said I really liked the rodeo!  Mommy and I took Jackson and Aunt Kristin to the rodeo tonight.  This time, though, Jackson and I checked out the kids section where we got to ride in the animal train, enjoy the petting zoo and ride stick ponies!  I even hopped on the mechanical bull!  The best part was standing at the end of the arena as the horses came riding by for the calf roping.  They were so close we could reach out and touch them!

Peyton Nicole Smith

Friday, June 1st, 2012

While at Resolution Horse Company last week, Bruce shared some free tickets to the Herriman Rodeo with me.  Mommy was out of town the last part of the week but flew back early from Phoenix so we could all go together. It was a super hot day but once in the grandstand we had plenty of shade and I got to experience my first rodeo!  While we waited for the show to start, I had plenty of time to dance to the country music and helped entertain the crowd.  After the flag ceremony and the national anthem, it kicked off with the Muttin Bustin was pretty cool but definately didn't want to sign up to participate!  I also liked watching the calf roping once I made sure the baby cows were just fine and not hurt in any way.  It was a beautiful summer night and I can't wait for my next rodeo!

Peyton Nicole Smith

Saturday, May 26th, 2012

I just can't get enough of riding!  Today I got to ride a different pony than the last time.  She seemed to have a mind of her own so we went "off-roading" out of the pen and along the trails instead.  She sometimes wanted to stop to eat some of the greenery but we would get her back on track pretty easily.  I even got to take the bridle and lead her around the pen like I was walking one of my furry brothers!

Peyton Nicole Smith

Monday, May 21st, 2012

Sometimes t-ball can be a little slow, so I have to find something else to do to keep me entertained.  Mommy was a little worried that I was climbing the fence but she still had to snap a few photos.

Peyton Nicole Smith