A long journey

Our sweet Ainsley started 2nd grade last week!  She was SO excited to go back to school and start a new adventure! We are so thankful for her school, her amazing teacher and Ainsley's love of learning!  We wanted to give an update on a multi-year journey that we've been on to find some answers to some of Ainsley's medical challenges.  We got notice on Wednesday that the research team had some findings to share and they wanted to talk via phone.  We then got a call at 4 pm on Friday afternoon with the news. 

We started this journey when Ainsley was 2.  It began with an elevated CK level that her genetic team at Iowa found.  Ains was referred to them because she had three systems affected (hearing, endocrine & muscles).  They normally refer you to genetics when you have 2 systems affected to try to find if there is an overall cause to your conditions. 

I can count on both hands the times where we were encouraged to take a break in our pursuit of answers.  We did take breaks over the years and there was always something that drew us back to advocating for A and trying to find answers so we could help prevent further damage to her ears/muscles or to prepare for new losses and to help A process all of this news.

During each break a new concern would emerge--A getting stuck in the bathroom at school and unable to open locks, multiple falls, a physical therapy eval that showed the was three years behind gross motor, declining hearing, etc. 

Each time we reengaged we received results that gave the doctors pause, but nothing definitive. 

Ainsley's Mayo Clinic genetic doctor, Dr. Lampher has met with us on multiple occasions and has shared she may have multiple genetic conditions going on all at once. 

He connected us to the Center for Individualized Medicine at Mayo Clinic.  This team does research and dives into medical mysteries.  We signed up for this team and all gave blood samples in MN at May of 2016.  They called with the results this week after 2+ years of study. 

Dr. Lampher was surprised that they didn't discover any genes that explained her muscle--the increased CK level over the years.  CK is a bi-product of muscle breaking down.  Most kids have a spike of this in their blood after an injury, but Ainsley's has been slightly elevated since she was 2.  The heart CK level was evaluated last summer at Mayo and was found to also be slightly increased for muscle breakdown (thankfully at a very low level).  I told him we were discussing a muscle MRI with her TX doctor if she needs another sedated procedure and he said more info would be helpful.

They shared that Ainsley had a mutation on her TPO gene that explains her specific type of hypothyroidism.  We were informed us this news several years ago, but it was good they noticed it too. A big discovery they made was Ains has a mutation on 1 of her genes that leads to a specific disorder that has hearing & vision loss and coordination issues.  If kids have 2 mutations they have the full disease that is devastating on so many levels.  They now have initial research that shows kids like Ainsley who have 1 mutation of this gene have hearing loss, but no other symptoms.  There is a researcher at Mayo that specializes in this and she wants to meet A and see her the next time we have Mayo appointments.  I told the doctor that we'd be back, but don't have anything scheduled at this time.

We are so thankful for the good news and now have some more answers to keep putting all of the pieces together for A.  I'm going to reach out to her Iowa ENT doctor who discovered A had this mutation in 2012, but at the time they didn't know what this mutation would cause.  I'm hoping to find out if this gene is linked to drastic hearing loss over time or if the loss levels out over time.  This will help us to best support Ains and know how to prepare for the future.  On a VERY happy note, we decided to plan a mini-vacation in mid-September since we didn't get away this summer due to the busy time in life and at work.  This was Ainsley this morning getting ready :)!