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Does Dwarfism Run In Your Family?

This is one of the very first questions that most people ask me when they find out that Asher is a Little Person. And I can't say I blame them. When we first heard that it was possible that we were having a baby with dwarfism, our first thought was "that can't be possible - no one in either of our families are little people." Apparently - that doesn't matter as much as you would think.

Dwarfism falls into one of two buckets: recessive, or dominant. High school biology flashbacks anyone? Achondroplasia, the most common type of dwarfism, is a dominant form of skeletal dysplasia. This means you can get it one of two ways - either from your parent who also has Achondroplasia, or it can be caused as a result of a first generation mutation (this is the case for approximately 80% of all people with Achondroplasia). That means that the majority of all Little People are born to parents of average height with no history of dwarfism in their family. It was just a random gene mutation that happened at or prior to conception. If neither of your parents have a dominant form of dwarfism, the only possible way to get that type of dwarfism is for it to be a random mutation. That means that if two people of average height have a baby with Achondroplasia, or some other dominant form of dwarfism, their chances of having another child with that type of dwarfism are the same as anyone elses.

Recessive types of dwarfism, on the other hand, are passed down by parents who are carriers of that particular type of dwarfism. In order to have a recessive type of dwarfism, both parents must either have that type of dwarfism, or be a carrier for it. That is where the surprises come in - you can go your whole life without ever knowing you are a carrier for many different things. So if two people of average height are both carriers for a particular type of dwarfism, then there is a 25% chance that any child they have will have that form of dwarfism (ugh...math).

So what does this mean for our family? Well, nothing yet. We don't know what type of dwarfism Asher has yet - so there is no way to know for sure whether it is a dominant or recessive type. Cartilage Hair Hypoplasia (CHH), for example, is a recessive type - which means if that is the type that Asher has, then my husband and I are both carriers, and there is a 25% chance that any future child we have would also have CHH.

When we began to suspect that Asher had CHH, panic set in when I realized it was a recessive form of skeletal dysplasia. Please don't get me wrong - I'm not saying that this caused me to panic because the idea of having another child with dwarfism would be a bad thing. If I could have another baby exactly like Asher - I would be beyond over the moon. But therein lies the rub - there is no guarantee the baby would be just like Asher. As of now, it appears that Asher's degree of immunodeficiency is pretty mild. But there are many instances of children with CHH that do not survive past the toddler years due to recurrent infections caused by a severely compromised immune system.

So until we have a diagnosis - we are simply left to wonder what the future holds for us and our family. But I know this: whether Asher is our only child, if he has siblings who are all of average height, or if our future holds a family full of children who are all Little People - I will consider myself the luckiest mom in the world.

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