Thursday, June 30, 2011

2 Doctors, One Big Update

Hi Everyone!

I would like to thank you all for your prayers, your notes, phone calls, and concern for Jeff. I have been overwhelmed at the love that has been shown to us regarding his 'episode' on our trip to Georgia.  I am embarrassed to tell you how far behind I am on  thank you notes, but just please know that I am grateful from the bottom of my heart. He is not feeling 100%, but he is doing so much better! He has an appointment scheduled with his doctor as soon as we get back to Michigan.

We are thoroughly enjoying our Georgia visit, so far. We have spent time with part of Jeff's family and time with my parents, siblings, nieces and nephews. We have spent some time with a few of our friends and have been lavished with lots of love and hugs from our Beech Haven family. Oh, how I have missed them and their super-duper hugs. Jeff and I are thrilled to be a part of the Freedom Celebration this year, Jeff and I in the orchestra and I am singing a solo. We feel honored to be a part and I must say, things just felt 'right with the world' at rehearsal last night.

Yesterday was a big day for Clara-Bear and doctor visits. It was sort of the day we have been waiting on. Honestly, after some recent conversations with her geneticist in Atlanta (whom I adore), I was a little worried that we were going to be asked to make some really big decisions that I was not quite ready to make. Thankfully, that was not the case, and things worked out exactly the way I would have wanted...and I even got some explanations that clarified things up for me. Basically, both doctors said the same thing (with minor differences) and where Clara is concerned, the geneticist trumps the neurologist (even though we adore him, as well), so here is the nutshell:

She looked GREAT to them! She is getting stronger, more coordinated, and her muscle tone is improving greatly. Thank You Lord!!

They both agreed that we need to keep her on her current medications. The combination she is on is working for her, and at this point, it would be irresponsible to stop something that is helping her. I couldn't agree more.

They both agreed with me that traditional therapy would not be as effective for her right now as gymnastics or swimming. She will continue her equine therapy and we will try to find a way to make the other things happen. God will provide....He ALWAYS does.

The next things were primarily discussed with her geneticist:

There is definitely some type of chromosomal abnormality with Clara. There is an entire panel of chromosomal studies she wants her to have (that should have been done before the biopsy), but I am not sure if we will proceed with those. The geneticist felt that whatever her chromosomal abnormalities are, they are the kind that happen, do the damage they are going to do, and are then done. There was a term for that, but I don't remember it.

The big topic of the day was her Mitochondrial Disease diagnosis. The neurologist had an opinion that was slightly different, but as I said before, geneticist trumps neurologist on the mitochondrial issues because that is what she has devoted her life to studying. We are keeping that diagnosis, but she feels very certain that it is a secondary condition and not the primary one. The Hypophosphatemic Rickets is the primary issue and likely made her mitochondria sick, causing the abnormal muscle biopsy. So, the good news is that the Rickets is treatable. The bad news is that the damage that has been done may not be reversible. There is no way to know how long it will take for her bones to heal. Her geneticist will monitor her for the next four or five years, seeing her once a year unless we need her for something in between. After that time, if the Rickets is gone and her bones are healed, and if she remains metabolically stable, we will talk about removing the  Mitochondrial Disease diagnosis.

I can live with that.

Thank you for your love and concern for our sweet Clara. God has blessed her with a determined personality and blinders to not notice there is anything different about her. She is a happy, bright little girl, and loves life to its fullest.

Have a great day!


1 comment:

  1. Jeannie - Your trip and what happened with Jeff sounds so scary! It was amazing to read how much grace God gave you through the whole situation, and how you were able to explain it to the girls. What a blessing that was to me! I hope I can teach my girls those same truths in a moment of crisis. Thanks for sharing that whole story! Praying you all have a blessed trip and safe ride home! ~Erica B