Thursday, September 17, 2009

answers....sort of

First off, if you live in Jacksonville, FL, and are going to medical school and are undecided on a specialty- pick Genetics!!! This is a big city, serving a bunch of smaller cities, but still, we have one Pediatric Geneticist. Just one! Which means he is a very busy guy. But he is worth the wait- my husband and I completely feel confident in his conclusions, and he has made me feel at ease in an uneasy situation.

We saw Dr. P on Tuesday, thinking the appointment would be somewhat of a waste because we still had not gotten in to see the number of specialists he wanted us to see before returning to him. I called Dr. P’s office and told them as much, but they said to come in anyway because he wanted to see Jack. And I am so glad we went, because I got clarification on things that had been troubling/puzzling me since our last visit.

Namely, the issue of Jack’s hearing- or lack of. As we have told most of you, Jack failed his hearing test 3 times, with consistent results every time. They concluded that Jack has no hearing in one ear, and less than 50% in the other. Our friends and family who knew of this took it upon themselves -as did I- to test the diagnosis. And almost everyone believes that Jack can hear, and hear well, at that. He responds to music, and when he hears his brother and sister across the house, he takes off after them. So, it seems that he CAN hear. We shared our thoughts with Dr. P. After patiently waiting as I made a case for Jack’s hearing, he calmly explained that while it is reassuring that he responds to sound and the kids shouting, it does not mean he can hear the way he is supposed to. Since sound travels at different frequencies, just because he can hear music and rumblings of running children, does not mean that he can hear sounds at higher frequencies, or everyday conversational tones. That poses a problem because this is obviously how children learn to speak. So we are going to do an inner ear probe and CT scan to get another look and determine whether his hearing loss is conductive, neurosensory, or both. Whatever the result, he thinks his hearing loss is reflective of his overall ciliary condition.

He also explained, again, that he thinks each one of Jack’s health issues are linked to a common cause, and we need to figure out what that is- soon. The cardiac anomaly of situs inverus, hearing loss, frequency of infection, bradycardia, cardiac arrhytmia, abnormal heart structure, and questions and abnormalities related to his abdominal organs- mainly, the spleen, all stem from a primary condition. Unfortunately, it is not a simple as conducting a blood test to determine which condition he has. There are hundreds, and each one has a hundred different deviations, and we are dealing with an incredibly rare condition. We also still do not know whether Jack’s condition, which they not so lovingly refer to as a gene defect, was spontaneous, or a genetically recessive trait. They are going to hold off on testing the kids until we know more about Jack. They will not do genetic testing on Jeremiah or I because they are more concerned with what our genetic profiles combine to create. So, all we know is what we have already known- that our son has heterotaxy syndrome, also referred to as laterality defects, and that the conditions that spring from this are wide ranging and plenty. I won’t name them here, because I know Grandma Julia likes to look things up, and as I have learned, no good comes from that. But there are a few that we are focusing on.

We are going to start the testing very soon, and hopefully will have a better picture of things before his 1st birthday! But our Jack continues to thrive and grow and you’d NEVER know to look at him that he is not the picture of perfect health.

On a lighter note, an interesting comment made it into Dr. P’s report. Jeremiah and I shared a good laugh from it, so I thought I’d share it here. ‘....-stuff about jack-...His sister and brother are tagging along, they are being good, and not disrupting the clinic.’

I got a good laugh out of that. Not sure why my insurance carrier needs to know that my children were well-behaved on THAT day, or if that was to serve as a warning to us that should they disrupt the clinic, it would certainly make it into his report.

Okay, better put my laptop away.....yep, it is still missing the ‘Shift’ key. We’ve got our first Open House tonight at T’s school, and I need to prepare my list of questions for his teachers. ;)


Kelley said...

The note about the kids is hilarious! But, hey, we will take parenting praise in whichever forms it comes, right??

Shannon said...

true- hearing your kids behaved nicely is never something you tire of. but he literally put that on the insurance paperwork. you KNOW someone at tricare is thinking, 'what's the code for well-behaved children?'


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