Tuesday, July 8

Thankful

We've been dealing with some new medical news for Ainsley for a little over a month. We didn't tell many people because it was such a shock to us after we were celebrating the good news of no muscular dystrophy in early June. It seemed like a bad nightmare all over again. We thought we'd spare our friends and family the worry until we knew what was going on.  Here's the full (and thankfully positive) update....
On June 23, I took Ainsley to see her new pediatric endocrinologist in Temple, TX at the children's hospital since they don't have that specialty in Waco were we live.  I wrote about this visit on the blog but didn't go into great detail because we wanted time to digest this and talk with our family.  Here is the full story...Ainsley has been hypothyroid since birth.  She takes daily medication and gets blood tests 3-4 times per year to check her levels and it is well regulated.  So we had this appointment at 8:30 am and I thought it would be pretty quick.  Get the new doctor up to speed with Ainsley's care and be on our way.  I was praying on the drive to Temple that morning that her new doctor would take the time to get to know Ainsley and I was thanking God that what we have on our plate medically for Ainsley is very manageable at this point.  
Dr. Bryant was wonderful and very observant.  During Ainsley's exam he felt a thyroid.  Ainsley has been evaluated over 100 times and no doctor has ever felt a thyroid.  Most kids with hypothyroidism at birth with Ainsley's high numbers (in the 500s) aren't born with a thyroid.  1 in 4,000 kids have thyroid issues at birth only 1 in 60,000 have thyroid issues with a present thyroid.  He said he wanted to send Ainsley for a ultrasound to check to see if she did have a thyroid.  Thankfully they worked us in for an ultrasound at 1:30 pm that same day.  The doctor told me that if there was a thyroid he would want to sit down and talk with Ryan & me about what this meant for Ainsley because this would mean she would have thyroid dyshormonogenesis. 
Ainsley got to pick out a toy out of the treasure box after her ultrasound (which she rocked--she is a pro)!  Isn't this an amazing treasure box!!  The tech was so happy with how Ains did on the test so she let Ains pick out 2 toys.  Ainsley was SO happy!  After the test, I asked the ultrasound tech if she was able to get a good picture of her thyroid (I was fishing a bit) and she said yes I was able to see it.  My heart sank.
The next morning Dr. Bryant called and said Ainsley had a large thyroid and that he wanted us to come back to Temple to sit down with him and talk about long term things we should keep in mind given this new information.  He said he would work around Ryan's work schedule because he wanted us both there.  This made me panic because I knew it probably wasn't good it he wouldn't tell me over the phone and wanted both of is to be at the appointment. He reassured us that her short term care wouldn't change.  Our hearts of course were heavy, but we've been down this road before.  Looming bad news, sleepless nights, etc. The Lord has always provided for our sweet girl, so we prayed He would take care of her yet again.
July 3rd we traveled back to Temple to meet with Dr. Bryant.  He shared that Ainsley was born with a thyroid but it isn't working and with her high numbers at birth won't function.  He mentioned Pendred Syndrome--this was on the table when Ainsley had her profound hearing loss back in January 2012.  We told him our Iowa doctors ruled that out with a genetic test and MRI and Dr. Bryant said that they are now learning this syndrome is more on a continuum.  Our genetics doctor did tell us we should have Ains evaluated every 3 years because science is quickly advancing in the genetic realm.  
Pendred Syndrome affects hearing and the thyroid from birth.  With hearing it can cause drastic drops in hearing which can  rebound--but most hearing loss is significant at some point.  For her thyroid we have to monitor Ainsley closely so her's doesn't get too large where it has to be removed.  Her thyroid will try to function if her numbers are off and it will work to the point of over exertion (and will grow).  We need to keep her thyroid numbers on the lower end.  Most kids with hypothroyidism are seen twice a year for blood work--we agreed to meet with Dr. Bryant every 4 months to get her blood work checked and adjust her medication as needed.  Dr. Bryant wanted us to see an ENT as soon as we could.  He said normally it takes 6 months to get in to a specific doc at the children's hospital, but he offered to go up stairs to the ENT office and see what he could do for us.  He was able to get us an appointment for Monday, July 7th with the ENT!  Praise God!  We are hoping this ENT can give us some clarity on what he thinks about this syndrome and get a plan for regularly checking Ainsley's hearing to monitor for any drastic changes.  
Monday afternoon (July 7) Ainsley and I traveled to Temple, TX to meet with the ENT.  We were anxious to get his opinion on Pendred.
He reviewed all of her records and agreed with Ainsley's Iowa ENT that she does NOT have Pendred. 2 out of 3 doctors agree so we will celebrate that news!! He does want a hearing test so he can keep an eye on any changes so we've got that scheduled for early September!

We have a lot to celebrate this week! Good news from her doctor and a new home!
We got a cool treat before her apt today-strawberry lemonaid!

1 comment:

Angie said...

well that is good news Shelby! I'm so happy that the doctor's think it's not Pendred syndrome!!