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11 August 2010

Triphalangeal Thumb

Hello all,

Well, this is not going to be the most upbeat blog entry. We have some not so wonderful news to share. First off, let me preface this with Duckie, J, and I are fine and healthy. Jarvis is currently healthy and just fine, however we have discovered a name for a condition he has had since birth.

I’m not sure if any of you noticed, but from the first moment we met him in the hospital, we noticed that Jarvis had an unusually long thumb. We joked about it often, and many people noticed, but we just assumed the muscle between his thumb and first finger must not have been fully developed yet, and so his thumb just appeared long. He has been having well-baby check up every 2 months and has been progressing physically and developmentally right on time.

He took a bit longer to start using his thumb than normal (not until after 3 months), but nothing of any major concern to warrant me bringing it up to a doctor. It wasn’t until a family member (who doesn’t see Jarvis as often as J and I) did a little research on their own, that we realized that he might actually have a condition with a name.

We have identified that Jarvis has a genetic abnormality called Triphalangeal Thumbs. A normal finger has a total of 4 bones (one in your hand and 3 on the finger) and 3 joints. A normal thumb has 3 total bones (one in the hand, 2 on the finger) and just 2 joints. Jarvis’ thumb has a total of 4 bones and 3 joints, it mimics his pinky. We did a bunch more research and looked at photos and felt confident to contact a doctor at the clinic here on base. He has contacted a friend who is a geneticist since it is a chromosomal abnormality. We took x-rays today to confirm the condition and check for deformities of the bones. We had a chance to glance at them, and we can confirm that he has an extra joint and bone on each finger. As far as bone deformities go, we will be meeting with the doctor to analyze the x-rays at a later date.

One of our biggest concerns after doing research is that Triphalangeal thumbs is very often an indicator for many other serious conditions, so the geneticist has recommended that we do some further testing. It can be a standalone condition and not be related to anything else, but it is worth checking. We will be doing a blood test for a syndrome that doesn't develop until later in life, and we will be traveling to Bismarck to see a pediatric cardiologist for an ECG, EKG, and chest x-rays to check his heart for any issues.

As long as he is not diagnosed with any problems or bone deformities, we can expect him to continue to progress as normal. He will most likely need some extra help learning to write and use his thumbs for fine motor skills (pincher grasp, etc), but should have no trouble learning them eventually. His thumb will always be longer than a normal thumb, most likely anywhere from a ½ inch to 1 ½ longer and it will continue to be noticeably different. Assuming there are no bone issues, we will not pursue surgery as an option, it’s unnecessary.

We are keeping a positive attitude, as many serious syndromes can already be ruled out based on his excellent physical, mental, and emotional health. The tests are more of a precaution. We wanted to share this information with you. It is a dominant inherited trait, but can also be spontaneous. There is a 75% chance he will pass it on to his children. There is a slight chance that Duckie will have the same issue, as it is possible either J or I passed it on, but we will just have to wait and see.

I truly think it will not hamper him in the long run. We are imagining a little 8 year-old running around happily telling the world he has “mutant” thumbs! And who knows, he may be a world famous pianist or quarterback with his excellent reach!

We love you all and will keep you updated on any developments!


*** Oh, and be sure to check http://jaceandchelsea.shutterfly.com/ for new pictures and http://www.youtube.com/user/jace26#p/a for new videos!***


J, C, J, & D

3 comments:

shawna said...

Keep your positive attitude! Will be thinking of you guys & hoping that testing rules this benign. :)

Anonymous said...

I like the idea of him being a famous pianist or sports hero with his extraordinary thumb. Keep positive thoughts.......he appears to be progressing just fine, special thumb or not. Hugs to you all. Auntie Lynn

Tori said...

We'll be thinking of you.