Monday, May 2

Thankful for the day


Wade, the minister who married us (who also happened to be Ryan's best friend in high school) would always say he was "thankful for the day".  No matter what the day brought he was thankful.  That is how I feel about today.  Although it was a long and exhausting day, I am thankful for the day. 

We arrived at 8 am to Mayo Clinic and left at 5:30 pm.  We had 7 different appointments/meetings, with a quick break for lunch.  Ainsley was a rock star!  She kept her energy up throughout the day and was a trooper!  Here's a quick summary and YES, the next picture is of Ainsley drinking diet coke....she was so hungry today she ate through all of the snacks and water that I had brought along very quickly so she got a few sips of diet coke.  She feels like it is liquid gold--she loves it!

Our first appointment was with endocrinology.  Two endo doctors evaluated Ainsley and thought it was very unusual for her thyroid to be growing and enlarged due to her hypothyroidism being well controlled with daily medicine.  They ordered a thyroid ultrasound and we got that done this afternoon.  We'll get the results tomorrow.  The ultrasound tech was amazing--I've never seen a more thorough thyroid ultrasound.  Ainsley stayed perfectly still and they were able to get some great images. We are anxious to get the results tomorrow.  We were SO relieved that the doctors wanted to get to the bottom of why her neck was so large. 

We then met with a wonderful genetic doctor.  He was so gracious and caring.  He has daughters too who are school aged and talked with us about helping to support Ainsley who is in the "gray" with several of her medical tests.  He explained the full genetic test that we had done (that "ruled out" muscular dystrophy) likely had some findings that they didn't report to us.  The company that we used is VERY conservative in what they report.  The genetic doctor explained there are many ethical reasons that companies chose to operate in this way--if you provide random bits of info on a variety of gene mutations where would the info stop. 


There is a research team at Mayo that dives into the raw data of the genetic testing to run those results through their Mayo testing standards.  He was VERY hopeful that this team could review Ainsley's raw genetic report data and get us some answers on hearing loss and muscle concerns.  He said there likely is 2-3 separate reasons/diseases that are causing the clinical signs that we see in Ainsley.  What a true GIFT this was--greater clarity without putting Ainsley though more intensive testing!  We had two appointments with the research team after lunch to give consent to let them dig into Ainsley's genetic test.  The bad news is this could take up to 3 years to hear anything from the research team because this is labor intensive work.  They will get a blood sample from all three of us tomorrow in case they find something in the genetic test that they need to explore further.  This was totally unexpected--we are so thankful they are willing to dig in and find us some answers. 

The picture above was on our lunch break--one of Ryan's co-workers who is from MN recommended a great burger place.  It was yummy and more importantly quick!  We let Ainsley pick out a chocolate treat on the way back to her afternoon appointments.  After lunch and the research team meetings Ainsley had an x-ray of her hand done to make sure she is growing on target and then she completed her thyroid ultrasound.

We then had our final appointment with the ENT.  She performed a scope through Ainsley's nose to evaluate her voice box (due to the nodules and hoarseness).  The good news is she didn't see any nodules, but said Ainsley's voice box was very swollen due to usage.  Part of that usage wear could be attributed to Ainsley's lower muscle tone--she explained Ains has to work a bit harder even with speaking due to the lower muscle tone in her throat/voice box area so that could cause the overuse.  She wants Ainsley to return to do more testing under general sedation.  She can then clean both ears, patch the left ear if the hole is small enough and do a full hearing test under sedation.  They will try to coordinate this with the muscle evaluation and brain MRI that the muscle doctors want to do.  They could not get that coordinated this week due to needing to schedule it in the OR.  We'll know tomorrow more about when that could be scheduled.

Ainsley showing me her Wonder Woman flying stance after her thyroid ultrasound.  I can't say enough of how proud I am of how she handled today.  She is one strong cookie!

All in all we are very thankful for the day.  We feel very good about the decision to travel to Mayo to get solid answers.  Every person we met with today provides a written document for continuity of care back home in Texas.  We already have 4 of the reports--which is incredible. These are detailed notes from the doctors about their take on what is happening with each of Ainsley's conditions.  This is exactly what we were in search of--answers and directions for next steps.

Tomorrow morning we return for blood tests at 8 am.  The research team gave us these packets to take to the lab tomorrow.  I literally said to the lady, you trust me with these?  It felt a little odd lugging these around today at the hospital--thankfully I always carry a very big bag!  Thankful for the day and for all of the prayers for our sweet girl.

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