Finished at Mayo

After a long week we have finished our appointments at Mayo. We feel that we've come away with some valuable information. We learned that his iron level is well within normal range and his iron stores are bordering on normal. Of course, we also learned that his vision is decreasing more rapidly than first thought. Among the many other things we learned, the most valuable part of the trip was probably physical therapy.

The therapist had him in a new walker that will have him rely on his legs more and quit using his arms and upper body as a brace. We have to get it ordered and pick it up when we get home, which could take 2-4 weeks. He will also be getting leg braces ordered.

She also had him using a compression vest, which is helpful to children with ataxia. The short, easy explanation is that it supports their upper body muscles so they don't have to concentrate on two major areas at once and it frees them up to focus on lower body muscles.

She showed me some great, easy strengthening exercises that we can do at home on the exercise ball. Our biggest challenge when we get home will be finding a facility that can do pediatric PT and OT, that has extensive knowledge with equipment and can use it with him properly.

After the hematology consult and blood pressure test we saw Dr. Brands again. He felt like we are doing all the right things with our doctors at home and, should we decide to pursue testing, we should pursue the neurological and genetic sides from home. He also felt that if nothing comes from those two areas and we decide to press on, we should return to Mayo to pursue mitochondrial issues. We are still in the discussing and deciding stages. We'll see...

And now we're off for some sight seeing. I'll post some great pictures of Mayo when we get home.

"For thou art my rock and my fortress; therefore for thy name's sake lead me, and guide me." Psalm 31:3

William at the Waterpark

One of the many great things about the hotel we are staying in is the waterpark. The children are having such a great time! We've taken at least a little time each day to swim, though some days have been so busy they've only gotten half an hour. However, Wednesday was our short day. We were free all day after lunch, so we stayed at the waterpark all day and into the evening. We got in bed pretty late, but I think the children all agree it was well worth it!

William has so much fun in the water! He loved the "big" waterslide in the adult pool and he had fun in the kiddie pool on the "little" slide, too! And, as you can see, he had a great time playing water basketball with Michael! He loved making the ball go in the net and we all loved watching him be so proud of himself!

I'm thankful that this trip hasn't been all testing, but we've been able to enjoy the time with our children, too!

"Let the heavens be glad, and let the earth rejoice: and let men say among the nations, The LORD reigneth." I Chronicles 16:31

Life at Mayo

Dr. Driscoll (Physical Medicine and Rehabilitation) and Dr. Lindor (Genetics)


More labs

It's been incredibly busy here at Mayo. William has had some very early mornings, fasting, but he's done great! I think he is starting to tire of the the whole routine, though. When we walked into Mayo this morning, he started crying. He did calm down and was able to complete his round of appointments today.
Basically, we've learned nothing so far. Just lots of consultations, history, examining, and testing. Dr. Kotagal, the neurologist, has some specific testing he wants to run, but it can't be done until next week. We are checking with our neurologist at home to try to run this battery of tests there instead of staying 5 more nights for one day of testing. He also really wants an MRI done and when we told him that could not be done without removing the CI magnets from his head, he insisted there is a way. He is checking with a colleague to find out how to do it, but I called William's surgeon back home who advised us NOT to try an MRI without removing the magnets first. It is just too risky. He said to give the neurologist his cell number if he persists.
Tomorrow is our last round of appointments. We should find out the majority of the test results. We see PT first thing. Dr. Driscoll prescribed some braces for William that we will have to get when we get home. She also wanted us to see PT tomorrow to explore the possibility of a different walker. She gave us some very specific instructions for PT and OT to start as soon as we can find therapists capable of her instructions.
We may not have a diagnosis when we leave, but I feel that we do have some valuable information and direction that will help William. Now we just need to find the kind of therapy at home that he needs.

"Wait on the LORD: be of good courage, and he shall strengthen thine heart: wait, I say, on the LORD." Psalm 27:14

Quick Update

Dr. Brands - Pediatric consultation


Time is flying by already! There has been so much to do, but it seems to be going well for the most part. Yesterday we had our consult and discussed everything that has happened over the past year and a half and where to do from here. Dr. Brands is not interested in doing any surgery on William to remove the titanium from his implants and agreed that that would be best left to his CI surgeon if an MRI is necessary.
They gave us our schedule for the week. William had a great time in the wide hallways running his walker around.

This morning he had another EEG done. Everything went great! He went to sleep as desired and did not have to be sedated. Thank you all for the prayers!
(Elly,Wallace, and me waiting for William to come out of the EEG with Michael)

After the EEG we went to the Pediatric Ophthalmology department. After the initial visit, they dilated his eyes and he had a great time playing in the waiting room while waiting for the dilation to kick in.

Dr. Mohney examined William and was very concerned about his progressive vision loss. It is even worse now than it was 2 months ago. Dr. Mohney called in a retinal specialist and they examined William together, then discussed some of the many diseases that could be a cause.

William's eyes seem to be the biggest concern right now. They were in agreement that it is highly unusual for a child to deteriorate as rapidly as we are seeing with William. The vision in his right eye has dropped from -3.50 to -5.00 in just 3 more months. The left eye only had a -.50 change, but is still dropping.

Every doctor we've seen has asked us about an MRI. Dr. Edwards felt like INAD is still a huge possibility, even with the blood test, which he shrugged off as "unstable."

We were able to make it back to the hotel for a brief crockpot lunch. Now we are off for a full afternoon of appointments. I'll update more later.

Prayer for tomorrow: more fasting beginning 7:00pm tonight, water only in the morning, labs at 8:00am.

"The LORD will perfect that which concerneth me: thy mercy, O LORD, endureth forever: forsake not the works of thine own hands." Psalm 138:8

The Examination

We leave for Mayo tomorrow for a week of testing on our little William. The RPGR test has not come in yet and will not be in until the end of the month. One doctor is still convinced that this is what William has, even though my retina is healthy. I won't post a lengthy explanation, but it has something to do with me not being a carrier and William having a new mutation.

The possibility of needing to do an MRI upon our return is increasingly high. If nothing is found at Mayo that seems to be our only recourse.

We are so thankful for the many well wishes and prayers on our behalf. William continues to steal our hearts away moment by moment. He is funny and charming and sweet and tender. We are hopefuly that there will be answers for him at Mayo.

"O LORD, I know that the way of man is not in himself: it is not in man that walketh to direct his steps." Jeremiah 10:23