A Little Information About our Little Boy's Diagnosis

Brody was born Tuesday, February 24th, 2015.  After spending 18 days in the hospital, he is now home and doing very well.  He is eating, sleeping, pooping, and doing everything that a baby likes to do.  He still can't catch a football too well but hey, baby steps, right?

To rehash the last few months, we had been operating under the assumed diagnosis of Osteogenesis Imperfecta.  This is also known as Brittle Bone Disease.  Brody's doctors assumed that the shortness and bowing of his arms and legs were due to fractures while he was in the womb.  Another reason they were working with this assumption was because it was one of the most common forms of dwarfism.  Achondroplasia is the other most common form, and Brody had none of the characteristic findings associated with achondroplasia.

Turns out, our boy is much rarer than we give him credit for!  Brody has been diagnosed with a form of dwarfism called diastrophic dysplasia.  Diastrophic dysplasia occurs in approximately every 1 in 100,000 births.  Some estimates even have it as rare as 1 in 500,000!  His head and torso are average-sized and his arms and legs are much smaller than average.  When he is full-grown, Brody will likely be under 4 feet tall. 

One of the first times I got to see Brody in the NICU.

Diastrophic dysplasia (DD) is a disorder of cartilage and bone development.  Since that is the case, most of his health issues going forward are going to be musculoskeletal and orthopedic issues.  First off, we will be seeing a pediatric orthopedist next week to begin the process of correcting his club feet.  This will be a series of casts over many months that will gradually help turn his feet out to their proper position.  If the casting doesn't work, surgery may be needed to fully correct the feet so that he is able to walk.  Walking in children with diastrophic is usually a little delayed.  He may not be walking until about a year and a half to two years at the earliest.  As he ages, he will also be at a greater risk for early onset of arthritis, scoliosis, as well as other forms of progressive skeletal conditions.  I guess it's a good thing that he knows a chiropractor, am I right?!

While the majority of Brody's issues will be of an orthopedic nature, DD also has a few characteristic findings that are minimally problematic compared to the potential spinal issues.  Brody has what are called "hitchhiker thumbs."  There are lots of average height people who have hitchhiker thumbs and as long as he is able to function properly with his hands, they won't require surgical correction.

He won't have any trouble hitching a ride with a thumb like that!

He also has a very minor cleft palate in the back of his mouth.  This will probably need corrected as well to prevent him from having sinus issues and also to help with proper speech development.  About half of kids with DD are born with a cleft palate.  This shouldn't give him too much trouble as it has minimally affected his feedings.

The last main characteristic that he has developed is what is called cauliflower ears.  If you know anyone who wrestled growing up, odds are that they have a cauliflower ear.  Basically it is a swelling of the cartilage of the ear that alters the shape of the ear, usually permanently.  If you've noticed that we've had a sweet head wrap on Brody in some of our pictures, that is to keep the swelling down and hopefully to minimize the long-term change.  He didn't have them in the picture above, but they commonly begin swelling within the first few weeks of life, which is when his began to swell.

It's not a female's headband, it's European!

The crazy thing about diastrophic dysplasia is that it is likely genetic.  It is a recessive disorder so that means that Marcella and I are both carriers of the gene.  Most of the other forms of dwarfism are commonly a random mutation and the parents are no more likely to have another child with dwarfism than anyone else.  Since Marcella and I are likely carriers (we still have to undergo genetic testing to confirm) we likely will have a 25% chance of having another child with diastrophic dysplasia when we are ready to make that decision.

So, hopefully this helps people understand a little more about this condition.  Diastrophic dysplasia is so rare that he neonatologist at the hospital said Brody was his first case in 30 years of practice!  This is a learning experience for us as well so we are learning a lot of this as we go along with you all.  Brody has already conquered every obstacle in front of him, but we still have a long ways to go in his journey.  Your prayers throughout this whole process are much appreciated and we really are blessed and humbled by the support that we have received not only from our close friends and family, but from complete strangers who have been touched by Brody and his story.  He is absolutely perfect and he has taught me a deeper level of love than I ever could have imagined.

He's here, he's healthy, and he's already doing big things in our lives!

Mike