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! 

A new splint

Time for a follow up on Jarvis' condition, Triphalangeal Thumbs. 

First off, some background. When he was 8 months old, Jarvis was diagnosed with triphalangeal thumbs. He underwent some testing to make sure the condition was isolated and was cleared of any other issues. We started seeing an occupational therapist to make sure he was using it appropriately and to learn activities to improve his use. In January, she noticed a deviation (curve) in the last joint of the right thumb and had us start night splinting. However, it was very difficult to get his finger in the small splint and the pediatrician on base went ahead and got us a referral to a bone and joint specialist.

We headed to Bismarck again on Thursday to see the specialist. We were thrilled to finally see someone who knew what the condition was and what should be done. He made sure we had completed genetic testing and heart testing, took a look at the x-rays and determined that Jarvis was using his thumbs well. Often, children with this condition have weakened tendons and muscles that make it difficult to extend their thumb away from their hand but Jarvis is able to do that fairly well. 

In the past 6 months, we have noticed a deviation starting on his left thumb as well as the right. He told us that the growth plates between the bones were growing unevenly to one side. This is apparently common in bone/joint abnormalities because the body isn't sure how to handle them. He recommended splinting, but a slightly more extensive one. He will be wearing night splints on both thumbs to encourage the growth plates to even out for 6 months. We will have a follow-up then and determine to stop or continue splinting, or if surgery is necessary. 

The splint is the length of his forearm and holds his thumb out from his hand (to strengthen those tendons) and holds his thumb in the channel using velcro to hold the last joint of his thumb straight. 

It was a long, long day for the bit. We had to be up at 6am to make the trip there (normally 2 hours, but took 3 because of flooding road closures in town). The appointment it'self was rather quick, but the wait for the therapist to fit us in to fit the splints was over an hour, and it took him an hour and a half to fit both splints correctly. We really appreciated them fitting us in though, so we didn't have to make another trip! Jarvis did rather well considering it was a 3 hour drive (that he didn't sleep) and 3 hours being in a doctor's office, then another 3 hours home. Actually fitting the splints was difficult because they had to be hot to be mold-able, and he kept saying 'hot, hot, hot, hot" and trying to pull his arms away. 

He has no use of his thumbs while he is wearing them, so we made sure to have a paci-picking-up practice session before bedtime to make sure he could actually still pick up the pacifiers while he is in bed. He doesn't mind them too much, but we are thankful he only has to wear them at night. It will be an adjustment period for him, but hopefully something he gets used to. 

They have little socks underneath the splints to protect his skin and absorb some of the sweat, and to protect him from the edges of the velcro. We will be carefully watching for any rubbing points or raw edges and hope we do not have to take another trip to Bismarck for a re-fit. 

Here are a few pictures of our practice session!

Gig 'Em Ags! :P

 The channel for his thumbs.

And yes, they are camo...

Jace keeps saying it's too bad he's not a little older and watches TV, because they would be the perfect 'iron hands' or Batman's web shooters. Haha, I can only imagine how much fun a 5 year old might think these are!

Project 52 | Hard Decisions | Week 4

52: 4

motherhood is

hard decisions.

that sometimes your child doesn't like.

at.

all.

but is better for them in the long run.

This week, after seeing a pediatric occupational therapist for Jarvis' triphalangeal thumbs (see labels on the side for previous posts), she noted a slight deviation (curving) of his thumbs inward. Particularly on his right hand. So she sent us to the hand therapist and he is now fitted with the night splint you see above. Right now it's a testing period, we will check for any noticeable changes and evaluate where to go from here. We are in the process of getting a referral to a hand surgeon (most likely to Minnesota) to get a little more thorough check up.


He doesn't mind it that much really,
 he just wants to do is chew on it, which is fine, the splint is very hard...
except if the tape gets wet enough, the he can just pull it right off. 
Awesome.


Never been more glad he uses a paci at night!




(please ignore the yogurt on his face, he REFUSED to let me wipe it... 
pick your battles, right?)

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PS: as a hobby photographer (with no plans to ever be professional!) I would love any advice or tips on how to improve!




Hugs,

C

Bismarck, ND

A slightly bigger Minot... :D

Yesterday we made the 2 hour trek to Bismarck, ND to see a pediatric cardiologist. We left right about nap time and our good little boy took a decent nap on the drive down there! (Only 1.5 hrs instead of the normal 2, but still good!) We got there just in time to eat at SCHLOTZSKY's (which alone makes Bismarck better than Minot!), feed the bit, and head over the doctors.

We got comments all day long about how cute, precious, adorable, and friendly he was! Jarvis is quite the people person and does not mind smiling and flirting at all!

We started off the appointments with an Echocardiogram (ECG) and Jarvis did very well, he enjoyed watching the ultrasound pictures of his heart up on the screen. He was trying to grab the wand sometimes, and he did push out his belly like a little horse when she was trying to lightly press on it to get a better picture! She was thoroughly amused by him.

Then came the part I was most concerned by- the chest x-ray. I have a good friend who is a x-ray tech, and she warned me that they often need little babies to be crying in order to get them to take a deep enough breath. I wasn't too excited about that!! I, obviously, could not go back with them, so J took Jarvis back. He said they actually had Jarvis sitting up against a plate rather than lying down, and just had to hold him arms out. They snapped a few quick pictures and he was done! No fussing, no crying, no nothing. Looks like I worried for nothing, haha! And the entire Radiology waiting room was entertained by Jarvis' attempts at walking!

We then headed up to the cardiologist's office. The wait was rather long, but be did get to weigh and measure Jarvis! He now weighs in at a whopping 19lbs, 9oz and was 27inches long. (I could have sworn he was over 20, he's getting so heavy!!)

We had an Electrocardiogram (EKG) done while waiting in the room, so Jarvis got to have lots of little stickers and probes hanging all over him. This one proved a little more difficult, because we couldn't hold his arms and legs down or else it would interfere with the machine. After a busted attempt with bubbles, Mommy sang 'The Itsy Bitsy Spider' and kept him distracted long enough to get the test done.

By this point in time, he was already an hour late for his afternoon nap, and starting to show it. But a little music from Mommy's Iphone and he chilled out for the long wait for the doctor.

First off- the condition the geneticist was concerned about displays the triphalangeal thumbs, some deformation of the radius', and a large hole in the septum of a baby's heart. We had already confirmed that his radii (? each radius? whatever!) were not deformed, so we were feeling pretty certain that the testing was just a precaution. Plus, babies with big holes in their hearts don't grow and develop like he has been!

The doctor confirmed that he does not have a big hole. HOWEVER, he does have a small hole, called Patent Foramen Ovale. When babies are the womb, since they rely only on Mommy's blood for oxygen, they have a small hole in their heart that allows blood to flow back and forth and skip the lungs. In normal babies, this closes up at birth, when the change in blood pressure forces it shut. In about 25% of babies, it does not close right away. Most of them (about 90%) it closes on it's own within the first 2 years of life.

There really are no implications or concerns with this condition, it is a fairly common abnormality. Older patients are at risk for strokes since it allows blood clots through, but that is not a concern until he is much, much older. We will have it checked when he is 5 years old, just to make sure it has closed on it's own. You can find more information here: http://my.clevelandclinic.org/heart/disorders/congenital/pfo.aspx

Basically, it was a good day. We have determined that Jarvis does not have the condition we were most concerned about, although he does have another minor heart issue. He held up pretty well, and was a good little trooper despite missing naps and being poked and prodded or stuck in a car seat all day long. He is back to his happy smiling self today, climbing all over the puppy!

For now, at least, the testing is all done on Jarvis, and we can determine that he just has special thumbs, and that they are unrelated to any other issues. Which is such a blessing! Thank you so much for all of your prayers and concerns during this time. We are very thankful to our Lord for the blessings he has given us, and for our sweet, healthy baby boy!

Duckie's ultrasound is Thursday afternoon, I will try to get the pictures up as soon as possible!

Much love,

J, C, J &D

X-rays!

We were able to get copies of Jarvis' x-rays and they are very interesting, so we wanted to share some with you.

The picture below is Jarvis' left hand, and you can see, there are three bones in his thumb. Both of his thumbs look like this. You may note, that in baby hands, there is significantly more cartilage and less bone. That's J's finger down in the bottom and you can clearly see his joints, Jarvis' have not solidified yet. You can see that his wrist is nearly all cartilage.

And oh my goodness, look at all that chub!!

Here's another view from the side.

And just as a point of reference, here's a random x-ray of a normal baby hand.

Interesting to look at for sure!

C

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