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27 December 2011

Update | Triphalangeal Thumbs

Time for another update on Jarvis' condition- Triphalangeal Thumbs. For more background information, see where we left off 6 months ago.

Last post, we were going to try out the new splints for 6 months and then check back in with the doctor. Basically, the splints were ineffective, for several reasons. Splinting would only really work if it was done 24/7, which just isn't feasible since it renders his hands nearly useless. In addition, he would have to wear them for an extended period of time since his bones are still growing. Add those to the fact that splinting a tiny little thumb is VERY hard, and at least half the time he got one thumb or the other out overnight and that we had rubbing issues- splinting did not work. 

However, both Jace and I felt like the curvature had not gotten worse over the past 6 months, although it had not improved either. We met with the doctor, who initially seemed to think surgery was a definite. He had us take another set of x-rays (in office and super quick!), and once we got the images back, he was actually not as concerned. It appears like Jarvis has a prounouced curve when you look at his hands, but his x-rays showed bones that looked to be forming fairly well, considering.

Basically, Jace and I both feel that surgery for cosmetic reasons is not an option. His hands will look unusual for the rest of his life. I don't even really notice anymore, it's just normal to us, but it will continue to look stranger as his hands get bigger. As long as functionality is not impaired though, we feel like it will not be that big of a concern to have his hands look different. Kids will always find something to tease one another about, and you just can't shield your child from everything, even if you want to. 

The functionality concerns would be the only reason we pursue surgery. The concern would be that if the last joint continued to curve in towards his hand, then he would lose the stability and maneuverability of his thumbs, which is essential for many tasks. At this point in time, the curve is not pronounced enough to cause any functionality issues. He uses both thumbs VERY well, and I am continuing to work on activities that encourage him to isolate and strengthen his thumbs.

Although there is some debate, most doctors recommend that any surgery like this should be done before 2, in the hopes of impairing fine motor development the least possible. Obviously we are already at that point. So right now, the decision comes down to trying to predict how much more (if any) his thumbs will curve and whether to do preventative surgery now, or wait to see if he truly needs it. The surgery would involve cutting the last joint out and fusing the last two bones together. This would make the thumb resemble and operate more like a normal thumb. His hand would still not look completely normal, as the entire make-up of his thumb bones and position on his hands is slightly different. 

At this point, we have decided to wait. We will take another set of x-rays in June and meet with the doctor to evaluate the bone shape and potential rate of curvature. Then, we will make a decision to continue to wait, or schedule a surgery. 

Here are a couple of x-rays. They really are quite fascinating (especially if you go back at look at his older ones, here). As you can see, his thumb basically resembles his pinky, and it is placed a bit higher on the side of his hand than a normal thumb would be. Jace and I were discussing that if they weren't labeled left and right, you might have trouble telling them apart. 

Several people have asked about the chances of one of the twins having the same condition, so I thought I would address that as well. As I talked about before, sometimes this condition can be an indicator of several far more serious genetic conditions, however, after testing, we have ruled those out for Jarvis. For now, it seems as though this is just an isolated gene mutation that is NOT passed down genetically. This means that the likelihood of either of the twins having it is the same as any other baby- around 1 out of every 250,000. So we do not expect the twins to have it. But you know it's one of the first things Jace and I will be checking, haha! And if one of them DOES have it, then expect much more genetic testing on Jace, me, and the babies...

I am happy to answer any questions you may have, or family, feel free to call and ask away. There is so much more information I could put in here (like bone shapes and growth patterns), but I don't want to bore you! 

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