State of the Brody Address

So we are getting close to Brody time.  Marcella is now 35 weeks along and Brody really could decide to come at any time if he really wanted to.  For me, the pregnancy has gone insanely fast.  I'm sure Marcella would disagree.  Pretty unbelievable that we are a month from meeting our little dude and having a very different life than the one we have come to know.  

We have had lots of questions ourselves, and we have been asked a lot of questions by friends and family so I am going to write this blog with the intention of answering those questions as best we can.  

To start off, there is still a lot of stuff that we don't know and we won't know for a while.  During all of our time with our doctors, we have been given a lot of generalities.

It could be this kind of dwarfism.  It could be THAT kind of dwarfism.  We really can't tell at this point.  He could potentially still have a lethal form and might not survive.  He could have a very atypical form.

Many of our friends and family are frustrated at the lack of answers that we have after all this time.  It's been 15 weeks since we got the diagnosis of Skeletal Dysplasia (dwarfism) and we don't know any more about his condition now than we did then.  Even after monthly growth checks, weekly biophysical profiles, and many other appointments, we don't have any new answers.  Trust me, if anyone is frustrated by the lack of clarity, it is Marcella and I.

The reason that they cannot narrow anything down for us is that skeletal dysplasias are extremely difficult to diagnose before the baby is born.  Our geneticist told us that the average accuracy of prenatal diagnosis of skeletal dysplasias is 20%.  That's right, they accurately diagnose the form of dwarfism before the baby is born one out of every five times.  Those are not great odds.  The reason for this is that there are over 350 different forms of dwarfism, and there is a lot of variability even between people with the same form of dwarfism.  There are also limitations with the ability to visualize the baby and skeleton with ultrasound, especially when you are looking for bowing and fractures.

Brody doesn't fit neatly into any of the diagnosis of any of the specific forms of dwarfism, but the two most common types are called Achondroplasia and Osteogenesis Imperfecta.  

Achondroplasia is the type that most people think of when they think of dwarfism.  People with achondroplasia usually have larger heads, bowing of the bones of the arms and legs, a larger head, and a prominent forehead that is characterized as "frontal bossing."  Peter Dinklage and Jason "Wee Man" Acuna are celebrities who were born with achondroplasia.

Osteogenesis Imperfecta (OI) is also known as Brittle Bone Disease.  It's a misnomer because it is not actually a disease, it is a genetic mutation most of the time.  Children who are born with OI fracture bones very easily.  Broken bones can even happen in the womb before the baby is even born.  The fracture and healing of bones in the womb is what gives them the shorter and bowed appearance.  They commonly have smaller chests, rib fractures, and can even have skull issues if they have a more severe form.  Oh, there are eight different forms of OI.  Some forms are extremely severe, some are so minor that it's hard to tell the person even has it.  So there are 350 different types of dwarfism, and OI has 8 different types.  You can see how diagnosis is difficult.

These are the two types of dwarfism that we have been told Brody may have.  However, he doesn't neatly fit into either of these two.  He doesn't have frontal bossing, his chest is normal sized, and his organs are all functioning well as far as we can tell.  We haven't seen any obvious fractures, but we cannot rule out that he doesn't have them. 

Even after all of this, here is what we know:

1. We can assume, with a large amount of certainty, that he does have some form of skeletal dysplasia (dwarfism).
2. We are uncertain what type he has, and the severity of any potential complications is unknown since we can't determine which form he actually has.
3. As far as we can tell, he's a healthy boy otherwise.

From our experience with the doctors, as well as many different parents of little people that we have met on Facebook, this is common.  There are just too many unknowns until Brody is right in front of us.  Even then, there may be questions that we won't have the answers to for a while.  The uncertainty is frustrating, but this is something we are going to have to deal with. 

However, life is uncertain and nothing is guaranteed.  You just move forward with the hope that everything will be alright while you lean on those close to you.  We have reached a point now where we have accepted whatever form that he will have and will make the necessary adjustments to our life to accommodate Brody and his needs.  The problems that we used to think we had are nothing more than an annoyance at best now.  The perspective on life that we have been given through this process has changed us in a deep way, and all for the better. 
 

We appreciate all who have reached out and given us a kind word or a prayer of support and we will keep you all posted as we have new information.

Mike & Marcella