Dwarfism Awareness Month

So, I'm barely squeezing this one in on time, but, October is Dwarfism Awareness Month and I wanted to do a question and answer posts for all of you guys that might have questions or even if you don't!! ;)

You may notice, that I don't talk about Dwarfism a lot on my blog. I want to be clear that this is NOT because it's something that I am trying to hide or ignore in regards to Cohen. It's just that that isn't what our daily life is about. Cohen happens to have Dwarfism and I'd be lying if I said that this doesn't effect our daily lives, but it's just not our focus. Our focus is our family and living life together so that is what the blog tends to be about - just my scrapbook of my family! memories! And though my blog,through Cohen's pregnancy and birth has been, at times, more of a journal and deep thought type blog, that isn't or wasn't my original intention with this blog. I don't naturally love to make myself that public!! So anyway, I have been asked several questions since Cohen has been born, through the blog and in real life that I am finally going to get around to answering. I am no expert, just a mom learning as I go, so forgive me if I misspeak!! I have answered questions both specifically about Dwarfism and specific to Cohen and his type of Dwarfism.

1. What is Dwarfism? Good old Wikipedia defines it this way: Dwarfism is short stature resulting from a particular medical condition. It is sometimes defined as an adult height of less than 4 feet 10 inches (147 cm). Another medical term used is Skeletal Dysplasia...there are over 200 different type of skeletal dysplasias that can cause short stature.

2. Is it Hereditary? No and Yes. The majority of forms of Dwarfism are not and are caused by a spontaneous mutation in a gene. In fact 80% of people with Achondroplasia( the most common form of dwarfism) are born to average height parents. However, there are forms that are hereditary and are passed down from one or both parents( both parents of average height and of short stature).

3. What is the most common form of Dwarfism? Achondroplasia is the most common form of dwarfism. It accounts for about 70% of all forms of short stature.

4. What type of Dwarfism does Cohen have? Well, that's not a simple answer. Clinically we go with the diagnosis, Odontochondrodysplasia. However, this form is extremely rare and little is known and diagnosis is really just best guess. Cohen has a lot of the features, especially in xrays that appear to be very specific to this type( like the direction his femur bows). Some geneticist in Germany, however, believe they have located the gene on the DNA sequence that causes this and have not yet found in Cohen's blood work. Cohen also does not show any of the dental characteristics that are at the base of the name of this type( odonto).

5. Is Cohen's type hereditary? Again, not a simple answer. But most likely, yes. There are only about 13-14 known cases in the world and there are two documented sibling pairs. Because it does no show up in anyones family history that they know of, it is most likely a recessive genetic disorder - meaning that Chris and I both have to carry the recessive gene and both pass it down to our child.

6. Why is Cohen's type so rare? Relatively speaking, Dwarfism in general is a rare disorder. However, Cohen's type is most likely particularly rare in part due to the recessive nature of it and because of the effects on the chest size. There are documented cases of babies not making it and there are most likely others who were never identified with Odontochondrodysplasia before dying. Cohen's chest size at birth should have in no way supported lung development and breathing on his own.

7. What is the appropriate terminology? This can be a very sensitive subject for sure. Obviously, I have been using the term Dwarfism or skeletal dysplasia and these are the accepted medical terms. In general, saying that someone has Dwarfism is excepted but many prefer just "little person" or "short stature." For us, we tend to say that Cohen has Dwarfism, though, I imagine we will shift to "little person" a bit more as he gets older and outside of medical talk. And of course, the best terminology is to just call someone by name! :) However, we all know what people mean when they ask this, and the truth is, is that there is something medically different and so sometimes labels of some sort are necessary. I am not overly sensitive about this but do and have always preferred person first language (ie. Cohen has dwarfism instead of Cohen is a dwarf). It's just a good reminder that a person's disability does not entirely define them.

***I will take this moment to talk about what is considered inappropriate terminology. The use of the word midget, is in no way favored or viewed as appropriate in the little person community. While, the word midget, was once used medically to differentiate between proportionate and disproportionate dwarfism, like many words in our society, it quickly gained a very negative and derogatory tone and meaning. It is now considered extremely offensive. I recognize that a large majority of people that use this word don't realize that and don't mean it to be offensive but I do think it's important to educate people about the way it is perceived by the little people community and would ask that everyone try to change their terminology.****

8. Is there a cure? No, there is no cure. Most people with dwarfism lead very happy and long lives. There are, however, several different medical concerns and issues that can arise with different types of Dwarfism and some types have more severe complications than others. Medical care and following is very important and there are sometimes treatments for these complications.

9. Does growth hormone therapy or bone lengthening work? This is also a very sensitive subject and can be controversy. Many forms of dwarfism are not due to hormone deficiencies so that type of treatment doesn't help much but there are forms where hormone deficiencies are an issues and for those individuals, this course of treatment can be helpful. As far as bone lengthening, there are procedures that can be done but there is some differing opinions as to rather it can be weakening, etc. In general, both of these options have to be weighed very carefully and both parents and/or individuals have to make personal decisions about what is right for them or for their child. Some view this as cosmetic while other view this as function. It will vary from case to case. For us, personally, we are not seeking either of these for Cohen right now. If Cohen gets older and decides to look into lengthening on his own, we would help him get information and make the best decision possible.

10. Are there surgeries to correct Cohen's bowing? There are bone straightening surgeries. Again, we are not actively seeking these at this point just for the sake of straightening them, though this may and most likely will become necessary for function for walking and for other things at some point to some degree. There are some types of Dwarfism that it is really necessary for.


11. Does Dwarfism mean that you have an intellectual disability? The short answer is, no. Most all forms of dwarfism are not associated with a mental disability and most people with dwarfism have typical intelligence. It can be common for children to hit physical developmental milestones a bit later than typical.

With that being said, there are some forms that are also tend to have some intellectual disability associated with it. So, what about Cohen? The short answer, we don't know. The Odontochonddrodysplasia type is said to not have any intellectual disability associated it with it but it is very rare and little is known about it. Cohen is delayed in his development and in more than just physical. He most likely has a speech disorder of some type. We are pretty much just in a wait and see mode with him at this point. We are extremely proud of him and all that he has accomplished in his two and half years of life!!!

12. Will Cohen walk? Well, we know he can take steps and most likely, yes. There are some people with skeletal dysplasia that due to various issues, require the use of a wheelchair or assistance while walking. At this point, we and doctors feel like he will be able to walk on his own at some point in the future.

13. How Tall Will Cohen be? We have no idea, except that he'll probably be under 4' 10." :)There are not really a lot of growth charts for different types of dwarfism and there certainly isn't one for his presumed type. On Achondroplayia charts he measures in the smaller ranges. Right now at 2.5, he is about 27-28" tall and is 17.5 lbs. About the average size of 8-9 month old I think. He wears 3-6 month pants and 6-12 mos. shirts.



Whew, ok, that was a long post!! And i feel like I could keep going with questions and answers for a while. If you have any other questions - please let me know - I'd be glad to answer them!!