Saturday, August 24, 2013

Visit From Dr. Narayanan

I just wanted to let you know that while we were staying at the Ryan House this past Thursday night, Dr. Narayanan stopped by to give us a quick update on where we are with the sequencing.  He said that he continually bugs the team to get the results to him ASAP.  I truly think that the TGen team will be very glad once our sequencing is finished.  :)  Anyway, Dr. N said that the current sequencing is complete and the team was working on getting all of the data compiled onto a one page spreadsheet.  Dr. N told them that he would like to have it done by Friday (yesterday) night so that he could take it home with him and begin analyzing it over the weekend.

That is all the news that I have so far, but I just thought I would let you know.  Hopefully soon we will have some more news/information.   We continue to pray for positive results!

Sunday, August 4, 2013

Annalise's Results

Last Friday, Annalise had her MRI tests.  A couple of hours ago, I got an email from Dr. Narayanan.  Seriously, does that man ever sleep?  Anyway, here is the official report he got from the radiologist:

MRI is normal, MRA is normal, and MRS (spectroscopy) is normal.

Yes, you read that right.  Normal, Normal, and Normal!  Fantastic news, right?  Yes!  It is, don't get me wrong.  I am thrilled that, like Bryce, she too has shown progress in her myelination.  It gives me a new hope (again) that maybe our children don't have anything seriously wrong with them.  That maybe there is an easy answer and maybe even a cure!  I want to hold on to this hope, to not think any further.

But then I look around and the frustration sets in.  I want so badly to believe that everything is NORMAL with our children, but if this is the case, why is Bryce in a wheelchair, why can he no longer chew, suck, and swallow correctly, why does he stop breathing at times, why does he have to speak with me using his eyes instead of words,  why is he lying on the floor or sitting in a special supportive chair while watching his brothers run, ride their bikes, play ball, play video games and all the other things a NORMAL 6 year old boy would be doing?   Why do I still have two children in diapers?  Why is my daughter unable to run like she used to, why is it getting harder to understand her words instead of easier, why does she wake in the night because of pain and the inability to roll herself over or to get in and out of bed on her own like any NORMAL 4 year old can?

If everything is normal, why is it not?

Dr. N went on to share his thoughts:

"When I look at the MRI - I still have the feeling that there is some problem with the pace of myelin development.  There has definitely been some progress in myelination between 18 months and now; but just not at the normal rate I think.
This is also the same feeling I had when reviewing Bryce's latest MRI.  There is also the report compared to his prior MRI which suggested delay in myelination.  They say that the myelination patter is symmetric, and improved.  They also noted subtle prominence of the cerebellar folia (spaces between the ridges of the cerebellum).

I think this takes us out of the Aicardi-Goutieres syndrome group of disorders.  All the other classical leukodystrophies have been ruled out.  Still can't ignore the mild elevation in CSF neopterin in Annalise.
Clinically, they both look like they have some white matter disorder."

He went on to tell me that he has one more hunch and will have to do some work to figure this out.  Didn't tell me what that hunch is, which of course makes me crazy curious and yet at the same time I don't want to know what he is thinking or I will research something else for hours and hours only to find out that it leads to another dead end.  He says that he thinks the best shot is to wait until the exomes on me and John are completed and then we will have a better idea.  I think he is right.  Hopefully this will be available in the next few weeks, he says.  I hope he is right.

I want to stay positive.  I'm trying, I really am.  I don't want to sound negative because the news that we have gotten about the myelin truly is wonderful news!  Definitely a blessing!  I am so thankful that this is what is happening in our children's brains.  

We truly have been blessed with a wonderful man as our children's neurologist.  He is working so hard and coming up short and never giving up.  Even though in so many ways, it feels like we are still so far away from knowing what is going on with our children, there is a part of me that believes the answers are right in front of us.  I can feel it!  If only we knew how to reach out and grab them.  

I know that when the time is right we will know.  I know that the Lord knows.  I know that we have family and friends on the other side helping us...both in finding the answers to our mystery and in helping us be patient until that time comes.  I definitely cannot see the whole picture.  I don't understand why our children have to go through all of this...especially if we do find out that it is something that can be solved, that with some small thing our children can be healed.  Wouldn't that be wonderful!  Oh how I hope and pray that this is the answer that we finally, someday soon will be given.  

We have been talking for a while now about looking into Make-a-Wish for Annalise.  Bryce had his wish granted back in 2010, one month before Annalise was "diagnosed".  It was wonderful and truly a blessing to Bryce as well as the rest of our family.  Something we will cherish forever!  Annalise loves Micky Mouse.  She loves water.  She talks about swimming with dolphins.  I think we will hold off just a bit longer.  Who knows, maybe she won't even qualify for a wish!  Wouldn't that be crazy...and wonderful!

All I know is that through this journey I have met some incredible people.  People who, very likely, I never would have met otherwise.  I have learned things that I never would have learned.  I have become a person who I never would have become without this part of my life.  My husband and all of our children have done the same.  I feel like everyday, even as I continue to learn, the less I know.  One thing I do know for certain though is that there is something so much bigger than us out there.  I know that we have a loving Heavenly Father who is fully aware of who we are and what we need.  There is a plan and every single one of us has a very important role in that plan.