Final Mayo Up-date & Happy Father's Day!

I love this picture of Ainsley for two reasons.  First, she was SO excited to go swimming—she was looking through the window of the swimming pool and chopping at the bit to get in and have fun.  I also like this picture because it reminds me of what Ryan and I had hoped for this past week—we viewed our trip to Mayo with great anticipation because we had hoped to get some answers and relief from our worry for our sweet girl. We were looking through the “window” of hope.  
Our final appointment with Dr. Jones on Friday at Mayo went well, but there were still some unanswered questions. She re-capped all of the notes and test results from the week.  
They thought her hypothyroidism was well controlled and we had a good management plan for that—her thyroid blood work they did this week was perfectly in range.  Her biochemical tests all came back normal!  Praise the Lord for that good news!
They shared she is functioning at 75-80% of her age level for gross motor/speech.  We also have good plans in place for this—speech/hearing four times a month and physical therapy every few months to make sure Ains isn’t loosing any function.  
Her hearing has stayed the same for the last few tests—so they felt comfortable with those results and to have her home doctor to keep monitoring her mild high frequency loss periodically.  Her ear doctor (Dr. Smith) is nationally known—they had great things to say about him at Mayo which made us feel so good knowing Ains is in good hands with her local doctors.
The unanswered part—the genetics doctor did a great job this week of explaining our chromosomes are like an encyclopedia with each chromosome having its own volume.  
Ainsley’s volume #4 is missing a page.  It is rare for people to be missing this page (only .1% of people are known to be missing this page).  Genetics is discovering new things everyday, but at this time not a lot is known about her missing “page (FRG1)” other than it is involved in muscle—but its specific function is unknown.  
Ryan and I will be doing blood work at our home hospital so they can test us to see if we are missing this “page” of our chromosome.  If we are—that is good news.  We are fine without the page and Ainsley will mostly likely be ok with out it too. 
If Ryan and I aren’t missing the page—then it will be “medically significant”.  The doctor mentioned that would prompt a further look into the full picture of what Ainsley is experiencing.  
Ainsley’s CK level remains slightly elevated.  The high end of normal for kids 6+ years old is 391 or below (our local hospital uses 150 as the high range for normal).  


Ainsley’s most recent levels were 532.
Dr. Jones is going to consult with two neurologists about these current results and let us know this week what the new plan will be—how frequently we should have it checked and if at any point a muscle biopsy would be warranted.
We feel very comfortable with Dr. Jones from Mayo—she too had a similar concern about why Ainsley’s CK levels were still showing she had muscle breakdown into her blood.  She is a mom too and I could tell that she had a genuine interest in getting to the bottom of this.  We will be anxiously awaiting her call this week.
A funny story--while Ainsley's Genetics doctor was examining her this week he listened to her heart through his stethoscope but didn't listen to her back/lungs.  He went on with the exam and Ainsley looked right at him and kept saying "back" and pointed to her back.  She did this 10+ times!  Our sweet girl knows what to expect in an exam :).
We also play a game with Ainsley of "which hand?" and we hide something in our hand.  Ainsley always wants us to guess too--but we can always tell which hand she is hiding things in because it sticks out :).
Ains has learned how to roll her eyes which makes us laugh so hard now...but we probably won't be laughing as hard when she does this during her teenage years--ha!
So our new plan is to keep moving... 
and realize this isn't a sprint with an easy finish line.
It is a marathon that is gray as can be and we need to pace ourselves.
We are going to google medical things less and enjoy the present more. 
Although the next few months may be a little up-hill and rocky at times...
we have so many things to be thankful for.
We have a beautiful, curious, energetic and loving 2 1/2 year old!
We have loving and supportive friends and family.
And a new team of doctors to help us determine next steps.
We have much to be thankful for--including the world's best dads...Ryan, Papa Bob & Papa Larry!  Happy Father's Day!
Thanks again to everyone who has been calling, texting, emailing, stopping by, etc--we are so, so thankful for your care and support.  We look forward to getting back to work this week and Ainsley is looking forward to being back at school so we can all get back to some sense of normal :).



Comments

Popular Posts