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?