Thursday, May 4

Fierce Grace

This past February marked 4 years since we began seeking out genetic causes for Ainsley's various medical conditions.  We were encouraged by her developmental doctor at age 2 to seek out genetic testing to try to find an overall syndrome that would link all of Ainsley's conditions to help us get her the supports she needed to thrive.  Fast forward 4 years later and we are still on a journey to figure it all out.  Seeking answers for Ainsley can be exhausting and extremely disappointing at times....but we won't give up.  We are journeying back to Mayo Clinic in Rochester, MN in a few weeks to meet with several of Ainsley's specialists.  I am thankful for the opportunity to get some answers for Ains and she is grateful for the Mall of America rides that we will get to experience before all of her appointments :)!
We are still in search of answers so we can better support Ainsley now and plan for her future. I was preparing for some upcoming doctors appointments for Ains and I was struck by how close we've come to finding our answers. One of her missing genes was in the neighborhood of a syndrome that is linked to hearing decline, thyroid and goiters, but no official diagnosis.  Last year at Mayo Clinic in MN her genetic doctor got us connected to a research study to look at her whole exome sequencing.  She had the whole exome genetic test done in May 2015-we got the results in November 2015 that gave us the reason for her thyroid condition, but not the low muscle tone.  The genetic docs at Mayo explained that the genetic company we used is "very conservative" on what they report.  Meaning, if Ainsley is 60% likely to have a disorder, they won't report it to us.  The research study at Mayo will be more aggressive in what they report...but it can take them 3 years to complete the study.  We are 1 year into this new study, so when we are at Mayo in a few weeks we will meet with her genetic doctor again.  I am NOT getting my hopes up that he will have something to share--either a clean bill of health or some other news, we likely won't have their results for a few more years, but it is good to stay on their radar!
I've shared with some of you that we have struggled with finding a doctor/team that can coordinate care for Ainsley in Texas. It is hard to explain this to those who don't understand her medical needs. For instance with her left ruptured ear her Mayo doctor talked with us about being aware of a rare but extremely damaging complication of having a ruptured ear drum- cholesteatoma.
   
After A started exhibiting signs of that complication/multiple ear infections that responded briefly to antibiotics but then returned in a short time frame in October we worried. She also had a hearing decline in her left ear. I took her to her ENT specialist locally and they said that it is extremely rare....they tell me it was a run of the mill ear infection (which it could have been) and not to worry. I pushed and said I wanted a plan-if A continues to have repeat ear infections (that have different qualities than other infections she's had) and she finally agreed to a CT scan if needed to determine if she has this.
At the same time I sent an email to Ainsley's Mayo doctor in MN and he called me back with 2 hours. I missed his call at the time because I was in a meeting but he called back the next day at 6:45 pm after a busy day of surgery. He listened to my concerns for Ainsley, talked me through the signs of this complication and explained we could bring her back at any time for a repair to her ear drum or to remedy the complication. That's all I wanted a plan that I can rest in for Ainsley.  Mayo Clinic provides so much peace and reassurance.  We can discuss complicated situations with them and they will explore those paths with us.
We'll be spending a full week at Mayo this time to fit in all of A's apts.  Most days have 2 apts which will leave us some room for fun with Ainsley. 
One new specialist that we'll meet with is a pediatric eye specialists.  Ains has been complaining of having "sunglasses" on when she doesn't.  One of the muscle disorders that Ainsley has some missing genes in that region can have effects on the eyes, hearing and low muscle tone.  We are not too worried, just being overly cautious and getting this checked out.  I took her in to her local pediatrician when Ains mentioned the sunglass/darker vision and the doctor was at a loss of what to do.  We'll feel better after we know we've fully looked into it.

We are going to get an updated hearing test and we are on stand by to meet with the ear surgeon (he is an Otorhinolaryngolist) who will discuss when we should repair Ainsley's left ear drum rupture.  It has been at 30% for several years now, and it can be repaired at age 7 so we are getting close.

We are going to meet with Ainsley's thyroid doctor.  Her thyroid is still 3 times the normal size with her meds well regulated.  We'll likely get another ultrasound so they can compare it to last year's scans.  Last year it was large but not hyperemic and the February the scan showed the enlargement but it was considered hyperemic, so we'll get that figured out too.  We'll also be meeting with Ainsley's Physical Medicine & Rehab doctor.  Last time we were there he met with us for close to 2 hours.  He listed and watched her move.  He and his team then did a full PT eval and gave us several areas to work on with Ainsley.  Since that apt last year she has shown greater signs of bent knee walking, knees turning in, foot slapping and at times has to hunch forward to remove her nightgown/shirt--so some shoulder weakness.  I am thankful that they will give us a clear picture of where we are at with her muscles and a plan moving forward to strengthen them if possible.
I called this post fierce grace because that is my prayer for Ryan and I. That we'll continue to celebrate life and the daily joys with Ainsley but that we will also continue to advocate for her with a fierce grace. A student in one of the audiology classes that we spoke at last semester shared these thoughts after our presentation. What an encouragement it was. We will keep advocating for Ainsley with fierce grace!
"I learned so much from Ryan and Michelle, they are amazing examples of the level of involvement I wish happened in every case. Their love for Ainsley pushes them to want more for her and are willing to move mountains to get there. I admired their relationship and respect for each other; they truly realize each other's strengths and praise each other for them but also are realistic about each other's weaker areas and I could tell that they truly were aiming to build each other up in those areas. I look up to them as not only parents but as a team and support system that they are as a couple and the family they are with Ainsley. They impressed me with their enthusiasm to learn and research all they could to gain knowledge about their daughter and her needs as well as their genuinely positive outlook they have on life and on their future. I learned that those qualities are attainable by working together and having faith that God's plan is always better than our own and I hope that if I am ever put in a situation where God gives me a child like Ainsley that I would have the faith and perseverance of Ryan and Michelle."
              

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