Monday, January 5, 2009

Metatropic Dysplasia

I don't really post about Metatropic Dysplasia, what it is, what happens, etc, because we don't really think about it on a daily basis and although it's part of our lives in some sense, it's really not.  We don't look at Kaela as having dwarfism or MD (Metatropic Dysplasia), we just look at her as being our little girl. Obviously we think about it at times seeing as though we have many more doctor's appointments with Kaela then we do with Will, we worry about things like her neck, a little more when she's sick because of her narrow chest and lung problems, her spine which we look at everyday and see how wrong it looks, but that does not consume our lives. I wanted to post about it now though because I just received an email last week from a new family who found our blog by google-ing MD. We had hoped when we created the blog that someone might find us who was trying to find info about MD, but we never really imagined how satisfying it would be when it happened.  We have actually had 2 families contact us now. I know that 2 doesn't sound like a whole lot, but we are talking about just over 80 known cases of Metatropic in the world! And of everyone in the world, the first family that found us through our blog is from England and the other family is from Mexico.
Metatropic is a pretty severe form of dwarfism. There are so few cases and very little information about it that they still do not know which gene causes it therefore they can only diagnose someone from xrays and an exam. There are several distinct traits that a child with MD has. Some of these things are large joints, a chest that is very narrow and sticks out in the front, long fingers and toes, curved spine (although this tends to happen after 6 months to a year after birth), short long bones, long torso, and flat nasal bridge. The xrays will show a lot of differences in the shape of the leg bones, hips, spine and neck.  The biggest concerns and things that should be done as soon as possible are a full skeletal survey for diagnoses, xrays and maybe an MRI of the neck to be sure that it is stable. Children with MD have a very high risk of having their C1 and C2 vertebrates in their neck become unstable. This is life threatening so it's very important to have this checked. Many children with MD also have breathing problems.  This can also be life threatening and should be checked on a regular basis.  People with Metatropic also have severe curving of the spine. Children with very severe cases are born with a curved spine and a 'tail like appendage,' which is really their spine sticking out at the bottom of their back and above their bottom. Kaela does have dimpling there and you can feel her bone there, but it is not like you read where they make it sound like a tail.  This can be scary to read, but we talked to specialist and were told that it's very rare for it to be severe enough to look like a tail. If a child is born with the bone sticking out and a curved back, it's usually the case that they do not live very long. The curving of the spine is also a very big problem. There is no doubt that the spine will curve and usually becomes very severe. They should be followed at least every 6 months for xrays and to see how the spine is curving. People with MD already have or can have breathing problems, so it's very important to watch the spine to be sure it's not affecting their breathing.  Children with MD have both severe scoliosis and kyhosis or kyphoscoliosis. The spine bends in a s shape as wells as a a forward/hunch like position. The kyphosis is usually higher in the back then it is in Achons. Most people with MD have to have surgery on their neck as well as their spine. It seems as though there are not a lot of surgeries that work because the form of kyhoscoliosis is so aggressive it can break the rods that can be put in to straighten the spine. They are starting to use grow rods in children which are placed to straighten the spine but they have to go in every few month to adjust them, so they wait as long as possible to do the surgery. They usually fuse the spine once the child is done growing.  They can have several surgeries through their lives including on other parts of their bodies such as their knees and hips.  Joint pain is common too due to the large and tight joints.  
Metatropic means changing form, so unfortunately we don't know what will happen we have to watch and see.  The oldest living person on record with MD is over 70 years old so they can have a long life just as the rest of us. The sad news is they aren't sure if females will be able to carry a child because of their small size and spine issues, but time will tell.  The best thing for us and the younger children is that there are more studies and research being done now so hopefully by the time our kids do need surgery there will be better ways.  It can be scary, but they are just as precious and deserving as any other child. Kaela is really smart and although she does not walk yet (at 18 months) she gets around just fine! Both of our kids are a joy to have.  Although I wish I could take away the things she will go through in her life, I wouldn't trade her for anything. 

14 comments:

Danielle said...

Thank you for the post! It's amazing that 2 families have found you through your blog...it must be great to meet more people with the same type of dwarfism. I agree with what you said...while I wouldn't change Peyton for the world, I would love to take away any pain she is going to have in her life.

Katie said...

What a great life line for those families you have been! Kaela is just about the cutest little thing ever! I don't know if this was in the post, but how tall is kaela expected to grow? Since, all I know about is Achondroplasia and the two types look completely different I was just wondering. From my POV I would have no idea she had any type of dwarfism just from her pics...Thank you for educating me about another type!

Melissa Swartley said...

It's so interesting how many very different types of dwarfism there are! Sonya is thought to have Campomelic Dysplasia which is also very rare (about 80 cases in the USA). It's tough having to watch them go through all that they have to endure and I wish I could take away any pain too, but you said it best I wouldn't trade her for anything in the world! I'm glad you have two other families to share your experiences with!

Sarah said...

Danielle-Yes, it is great to meet people/families going through the same thing. I love meeting people regardless of the form of dwarfism, but it's so nice to talk with people who really understand MD you know?
Katie-the average height for MD is around 3 1/2 to 4 ft. Pretty small. They expect that the younger ones, like Kae, will be a little taller because there is more technology and advances to help straighten the spine. We think she's pretty darn cute too :) Thanks. And yes, it is hard to tell right now, but if you saw her in person, you'd probably notice more...especially if you saw her naked..maybe I should post a pic like that just to give an idea of the body structure.hmm:)
Melissa. It is amazing all the different kinds. I need to read your blog better (older post) to read about Campomelic Dysplasia. It can be hard being in the rare category, but I think we got pretty lucky don't you think?! They are such (all of these babies) sweet kids and I adore them all!

Catie said...

Thanks for the informative post Sara. I really did not know much about MD before, other than it was more severe than achon. I agree it is exciting when families contact you! We can remember what it was like when our children were born, and now we have the chance to help others. So great.

Alex said...

Sarah,
thank you so much for posting this. I have to admit that I know SO MUCH about achondroplasia but not as much about other forms of dwarfism.
She is adorable and looks so happy, what a wonderful little girl you guys have. You are very lucky to have her and she's very lucky to have you guys!

Kim said...

This was so informative. Most of us have achon children so people like you and Melissa really help the rest of us understand what your family and child is going through. Kaela is so very lucky to have you and Matt as parents because your love and devotion is so evident. Thank you again for sharing with us!

Melisa said...

This is an awesome post. So informative. I love it! Whenever I hear about a different form of dwarfism one of the first things I do is research it so I know more about it. Thank you for educating me and others.

paulmckie said...
This comment has been removed by the author.
Anonymous said...

This is a wonderful post ! When I am with Kaela I forget all about her MD but it is really great that you help us understand about her physical issues. Kaela is one of those rare people that has an aura around her...like a glow. You will help her figure out what to do with it. Love Aunt Shell

Misty said...

You are awesome Sarah. I am glad you posted that, it helped educate me some.

Lisa said...

I'm glad you posted that because you'll be surprised by the other parents who will "find you" simply because they googled metatrophic dysplasia and your post comes up. Great educational service! Good for you!!

Greene Family said...

I read this post when you first posted it, but didn't have a chance to post a comment . . . Great post - so informative!! That is so wonderful that two families have contacted you after reading your blog! I love to read about different types of dwarfisms whenever I can since Simon is still undiagnosed and could be for several years yet. I feel blessed to have made so many amazing friends through our blogs, POLP, and FB that understand about all of the doctors' appointments, precautions, surgeries, etc., but at the same time, we know our kids are just like any other kid. As you said - I wish I could take away any pain that Simon might endure, but I wouldn't trade him for anything in the world! Kaela is a beautiful girl, and you guys are amazing parents! I hope that we get to meet in person one day soon!

Wimzie Prints said...

Hi! We just found our our son has "most likely" been diagnosed with MD. At birth he was diagnosed with Cleido-Cranial Displasia but as we went in for follow-up visits and a full bone scan his symptoms seem to fit more with MD. We need to go in for a follow-up (just heard this diagnosis from the genetics clinic over the phone) to learn more information. The only thing that has baffled doctors is that our son is in the 98th percentile for his height, which doesn't seem to be consistent with dwarfism. He has narrow chest, long torso, short long bones, long fingers and toes and that "dimpling" at the base of his spine. Anyway, I'm excited to find there are others out there I can look to for guidance! Thanks for this blog...