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.
