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

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

“We’re all human, aren’t we? Every human life is worth the same, and worth saving.” – J.K. Rowling

First off, J.K. Rowling is a boss. 

Secondly, this is a topic I've wanted to write about, but wasn't sure when was the "right time." With yesterday marking the March for Life, it seemed an appropriate time to broach the subject. 

As I mentioned in a previous post, the day we received the news of Brody's diagnosis, I got three phone calls I never fathomed receiving: each one from a different member of my new medical team offering me an expedited abortion within the next week if I so desired. How was it that I went from receiving such great news-it's a boy!- to suddenly having three offers in 24 hours to "take care of things?" This was never a consideration for us, but also never a position we could have imagined ourselves in. Wasn't this for unwed mothers of multiple children, teenage girls not prepared for motherhood, or victims of rape? Or at least that's what the media likes us to think as they vehemently defend the "right" for abortion. How could this be for us, just because our situation wasn't what we had pictured? How did his life not matter now, because he has a condition that would be undesirable to many? 

Earlier in my pregnancy, I had read a story of a young couple also expecting their first child who was unfortunately diagnosed with anencephaly. Instead of hiding their story, they decided to honor their son's life. They made a bucket list, and spent the remainder of their pregnancy documenting all the adventures they set out to do in their son's honor. I followed their story before receiving our own news, and thought about how I didn't think I could find happiness in such a depressing time if I were in their shoes. Little did I know how much their story would mean to me just a few weeks later. 

Our initial visit with our specialist ruled out (to the best of their ability), a lethal form of dwarfism. We were beyond thankful for this news. But the seed had already been planted. Even if he were to have a fatal form, should his life be any less celebrated? Even though we opted not to terminate, would we still be honoring Brody by not talking about him, just because the situation isn't the norm? What if he didn't make it, and I never shared news about him, because it was just too hard to talk about? We hadn't even told many people beyond close family and friends we were expecting prior to 20 weeks. Suddenly, I didn't want to keep things under wraps; I wanted Brody's life to be known and honored. If the couple I mentioned could find happiness in their situation (given a much worse prognosis), certainly we could too. 

Prior to this I had been adamantly opposed maternity pictures. Bare bellied women staring off into the distance while standing in a field aren't tasteful in my opinion, and this was the tacky visual I got when thinking of maternity photos. But now my thoughts had changed.  What if I didn't document this time with him? What if I only ever had a few pictures of  Brody? I decided ask our neighbor Ashley to take some photos of us to use on Christmas cards. Nothing over the top, but I something I would always have. (And for the record, we both remained fully clothed). 

Next, Mike got to work on the blog. Frankly, it's in part to help share our story with friends and family so we aren't telling everyone updates 30 times a day. But it became something else. It's another way to share Brody's story; to have documentation of his existence. And through sharing our story, we have "met" so many people with similar stories (through the joys of the internet). It's been amazing how people who otherwise would have been total strangers have become lifelines. Many strangers have reached out, more so even than most our own family members, and been able to empathize in a way others can't who haven't been in the same situation. 

Most of this change in heart, for me at least, was going on over the holidays. I suddenly found seemingly simple tasks nearly impossible to finish. I set out to find the perfect stocking for Brody. While standing in aisles at Hobby Lobby, I would debate for hours over what kind of stocking to get. Mostly, I wanted to find something that would always be his. Here I should be overjoyed to be preparing for our new baby, and all I could think about was how I couldn't get a stocking that said "Baby's First Christmas" because what if he wasn't here next year? What if this was the only Christmas I had with him? I wanted something that could be hung every year, that would always be his, and could never be mistaken for a future child's possession. My search proved less than successful, and eventually I gave up and got a stocking with a 'B' bedazzled on it. I exhausted every Christmas aisle, in basically every story in Wichita searing for something with a 'B' on it. I may or may not thrown stockings in Target while frantically looking for one with his initial on it, all to no avail. I made him a silent promise that if he were here next year, I would get him a much less flamboyant stocking more fitting for a boy, but that was the best I could do this year. Christmas cards proved to be the same challenge. Had we not received the news, I wouldn't have plastered his name all over Christmas cards. We had initially thought about keeping a name between us until he was born. But again, I found myself wondering what if I didn't include his name this year, and next year he wasn't here? And then should I ever include it? After a lengthy internal debate in the Walmart photo department, I opted to put his name on the cards. This seemed to be in keeping with what I had decided: Brody will be included in our family, no matter what, for whatever time we have, starting now. 

The week of Christmas also marked the beginning of my third trimester, and the start of my weekly visits. My doctors apologized for the multiple appointments, stating they knew how busy we were with everything going on. These ultrasounds have become the highlight of my week. For other people, they may be an inconvenience to fit in weekly (and usually on a Tuesday morning after I've been on call Monday nights, no less), but for me they have become the highlight of my week. Each Tuesday we get to watch him kicking and moving, and thankfully, each week these have gone well. While we pray they continue to show a healthy baby, each week I also have to mentally prepare myself that everything may not look ok. Needless to say, each time I see his heartbeat and him move, I have an overwhelming wave of relief. I have a small portfolio of this kid's photos from the amount of ultrasounds we have had, but I'm grateful for them. 

The point of all this, is not to convince others to become pro-life. The fact that a life is not considered valuable or worth defending to so many people is disheartening to say the least. But for us, it has only solidified beliefs we already shared: life is precious, it is a gift, it is not ours to disregard because it may not be what we had pictured. And while we always felt this way, I can't say we were as passionate about it until it directly affected us. While we are hopefully in cruise mode until he arrives, there are still many uncertainties. We still have no idea what specific skeletal dysplasia he has. We don't know what his health concerns will be, or what our future looks like. I wish I could say this wasn't our path, because I know Brody will face challenges most others won't due to his stature. But I know the lessons he has already taught us are just beginning. He has given us a new perspective on life. Things that seemed to be big issues before now no longer matter. Daily hassles and frustrations don't bother me as much as they would have 4 months ago. And most importantly, we are more thankful for each day we have with each other, and for our health. I doubt I will ever see Roe v. Wade overturned in my lifetime, but I know that for us, a life that may be considered insignificant to many, has forever changed ours. And if maybe more people were willing to share their stories, perhaps others finding themselves in similar situations may find the value in life, no matter how small. 

2014: Iron sharpens Iron

One of the things that I have to frequently remind myself of is that even my "bad" years aren't that bad.  I will be the first to admit that I come from a life of tremendous privilege.  My parents both work very hard and do very well financially.  Schooling and college and post-graduate education were never a concern.  I have never wanted for anything necessary for survival and I have never gone without due to financial issues.

Marcella and I are both doing what we set out to do.  We have a beautiful house, two great dogs, two perfectly running vehicles (one that is paid off), and even on the months where things get tight, we still have more than enough left over in the bank after we pay all our bills and set some aside for retirement.  No matter what my teenage self thought at the time, my life has been a walk in the park compared to many.

This year was the first time that I really have been hit by something that I wasn't sure I could handle.  Now that we have gotten nothing but positive news about Brody, we are on cruise control until he is born unless things change in the next few months, but for a while it was difficult to deal with.  There are many questions that you have when you get the news that we did.  Some questions you can't help but ask, but simultaneously feel ashamed to ask.

Why us?

Why are we the ones that have to deal with this?

We did everything right.  Why can't this happen to someone else?

I will admit those thoughts have gone through my head.  I'm not proud of it.  I know that these kinds of thoughts are appropriate for anyone who gets news that their child isn't 100% average, but at the same time, you can't help but feel bad for even letting them enter your mind.  I know it was selfish.  I know I was feeling sorry for myself, but I believe that is natural.

I no longer have those questions.  I believe I have been given answers to those questions by what I choose to attribute to prayer, self-evaluation, and time.

Why us?  Because we can handle it.  Because Brody needs us.  Because we need Brody.

Why are we the ones that have to deal with this?  Because we are well-equipped to.  Because Marcella and I have an unbreakable bond.  Because we will learn from this.

Why can't this happen to someone else?  Because not everyone else can handle this.

I read a story the other day about a girl who had left her baby in the trash can because her doctors had told her they thought her child had dwarfism.  I'm not condemning this girl because I do not know her situation, but I think it speaks that some people are better prepared to handle situations like this than others. 

Now, I'm not saying that I believe I was given a child with dwarfism because I'm going to be a better parent than other people.  Nothing could be further from the truth.  I'm terrified.  I don't know how to care for an "average" kid, let alone one who is going to have special needs.  But, if God has seen fit to place this child in my life, I'm going to do everything I can to make sure that he is loved, supported, and given every chance to be successful and exceed expectations.

2014 was one of the hardest years of my life, but I'm okay with that.  You don't grow as a person unless you are challenged and I feel I have grown more in the last three months than I ever have before.

"As iron sharpens iron, so one person sharpens another." - Proverbs 27:17

Seems a little strange to think the pieces of iron that are sharpening me are a 5'4" woman and a little boy with dwarfism who isn't even born yet, but as warriors sharpen an axe before battle, I believe Marcella and I are being sharpened for what is to come, and we are ready.

2015?

Bring.  It.  On.

Mike

3D ultrasound of Brody at 30 weeks.  Already fighting us to wake up.

D-Day...D for dwarfism?

October 28th started off as a normal enough day. It was a Tuesday, and my last day at my job was that Thursday. I was frantic to wrap up loose ends before switching jobs the end of the week. I was on my way to meet with a financial planner to go over retirement funds since I was leaving my current employer-real adult stuff, that I didn't quite understand. As I was about to walk into my appointment, my phone rang. It was my doctor's office, and I was caught off guard. Typically they called the day before an appointment to remind me of it the following day, but my next appointment wasn't for a week and a half. I then thought "oh they are probably calling to tell me everything was ok on my sonogram from last Friday." Without a second thought, I silenced the call anticipating them to leave a voice mail saying everything was fine, and they would see me the following week. I went into my appointment, which took all of five minutes. Apparently when you don't have hardly any money invested, there's not much to discuss! I left my meeting and nonchalantly checked my voice mail, anticipating the nurse's voice on the other end. It wasn't; it was my doctor and she didn't sound like her usual self. She gave me her direct number, and told me to call her back ASAP. That was it. I knew instantly something was wrong from my sonogram Friday. My heart started racing and I tried to keep my hand still long enough to dial her back. She answered the first ring, without a hello, just by saying my name."Marcella!" She was sitting there anticipating my reply. She quickly told me there were many abnormalities found on our sonogram. The radiologist knew immediately upon reading it four days prior, and called Dr Agustin (my OB) and told her his initial diagnosis: dwarfism. What they didn't know from my initial ultrasound however, was if it was a fatal form. My doctor proceeded to tell me she had an appointment set up for me with a maternal fetal specialist and a level II sonogram that day. This would hopefully give them more information about whether it was lethal. She gave me all this information very professionally, but very kindly. I asked her how certain they could be off of a few measurements. She replied "you are almost 21 weeks...and your baby's limbs are all measuring at 13-14 weeks." Well I'm no OB or radiologist, but I knew this was not a normal variance, not just a lag in his development. She wrapped our conversation up with a simple "I'm sorry" and that was it. I was standing outside CTICU, and conveniently, there was a crash cart there, which I promptly collapsed on. Cries I didn't know I was capable of making escaped me, and I prayed for a few minutes of solitude; thankfully nobody came looking to see what rabid animal was loose in the hospital, but that's certainly what I sounded like. It finally dawned on me that I had to tell Mike. How did I give him this news? I called him at work, but wasn't able to form words. He thought my cries were laughs, and he started laughing, wondering what I was cracking up about. He quickly figured out that wasn't the case. I managed to sputter out a sentence fragment...OB called...things abnormal...he has dwarfism. Not a question, but a statement. I knew my doctor wouldn't give me that diagnosis over the phone if she weren't sure. Mike was done for the morning and agreed to leave and meet me at home. I called my friend and coworker Jane, who had referred me to Dr Agustin. She could tell immediately I was upset. She came down to meet me by a back stairwell where I gave her all the news I knew. She helped divide my patients and tell my doctors I would be leaving for the day. Less than a month before, I had cried in the same corner as I learned my dog had died. Now I was just told my baby might too? I didn't like the pattern and decided to bail, as if the location would change the circumstances.

I made it to my car before realizing I had no clue what was actually going to happen at my appointment this afternoon. Was it just a sonogram? Would I be meeting this specialist? Dr Agustin said I would be seeing a Dr Farley. I had never heard of him, and now suddenly this stranger felt like he held my entire future. I called Dr Agustin's nurse back, who explained I was just going for a sonogram today. She tried to reassure me by stating his brain and other organs appeared normal thus far. But I wouldn't meet this Dr Farley until November 11th. What the hell? How was I supposed to function for another two weeks before this appointment!? Mike and I got home at the same time; I promptly bawled some more, where Mike went into problem-solving mode. He quickly started looking up prenatal diagnosis of dwarfism...what he found was less than reassuring. Many forms found prenatally were in fact lethal, due to underdevelopment of the chest, and therefore heart and lungs. How could this be? Our sonogram from just four days before looked like any other sonogram I had seen. I had shown the picture to my mother in law just the night before and said "I'm sure he looks just like every other baby does right now." Little did I know how far from the truth that statement was. Hours dragged on, and we eventually found our way to our ultrasound appointment. The tech brought us back, and asked what we knew about why we were there. We told her the vague diagnosis "skeletal dysplasia." She nodded in agreement, and proceeded to spend the next 90 minutes getting very exact measurements: head size, cardiac circumference, abdominal circumference, long bone lengths, ratios of heart to chest, abdomen to chest, femur to abdomen...the measurements felt endless. She did the best she could to lighten the mood and show us some profile pictures, get some action shots of his movements. I could see his heart beating, and his legs kicking. How could that not be positive? At the end of our appointment, she informed us she did not routinely have to check many of these measurements, and she wanted another ultrasound tech to look over everything before we left. At the same time, I checked my phone and saw that I had missed a call and checked my voice mail. It was Dr Farley's nurse, Mari. She had been in touch with Dr Agustin, and had many questions for me. The ultrasound tech let me use her desk to call Mari back, while she had a co worker double check her study. While I waited for her to answer, I glanced down at the schedule. There was one line crossed out where someone had cancelled, and my name was penciled in. Marcella Stanley- Dwarfism. The lack of punctuation was not lost on me. Again, not a question, but a statement. How could just a few short hours change, and now permanently associate this diagnosis to us? Mari eventually answered, and she quickly went into what my "skeletal dysplasia" workup would entail. I could have an amniocentesis, I needed genetic testing which I had declined up to this point, I needed to get lab drawn to check viral serologies as I could have contacted an illness earlier in my pregnancy that I had not known of. Blah, blah, blah. And she gave me the last option, if I wanted to decline all this: termination. But in the state of Kansas, this can't be done past 22 weeks, and I would be 21 the next day. So if I chose this, we would need to schedule it quickly. Um, hard no. I did my best to politely tell her that I had all of 5 hours to process this information, but I was not interested in "termination." What a ridiculous PC term. Why can't we call it what it is? Abortion is abortion, regardless of the circumstance. Plus, my current insurance, provided by a Catholic institution, would not cover ANY genetic testing, as this is apparently associated with higher rates of termination. I wouldn't have my new insurance for almost a week, and couldn't get my genetic tests done until then. I declined everything else at that point and went home. We were told not to expect any news for another 2-3 days at least.

We sat the next few hours, not sure how to pass the time. Somehow, it was 9pm. Mike was watching the World Series, I was mostly staring at the wall trying to maintain some form of composure. My phone rang, and it was the main number for Wesley. I didn't even have privileges there right now, what were they calling me for? I answered, and was shocked that it was Dr Agustin on the other end, and she had gone through the operator to get my number at home. She informed me that Dr Farley had already read my ultrasound that evening. He felt very confident it was not a lethal form of dwarfism, and called Dr Agustin to fill her in. She, thankfully, went the extra step to call me after hours to give me this news. She was very reassured based off his initial report. Despite this, I was still offered the alternative: termination. We again declined, and she stated she would see us at our next visit in 10 days. I was flooded with relief, but still filled with questions. We were so thankful it didn't look lethal, but that didn't necessary narrow our diagnosis down. From our initial research, we saw there are over 200 forms of dwarfism! The most common form being achondroplasia, and if born to average height parents, is just a total fluke. Only one in 25,000-40,000 babies are born with this we discovered. I fiercely fought against the urge to think "why him, why us?" and tried to focus on the positive news we had received. For those who don't know me as well, I have always loved shows about little people. To the point of obsession that it became a joke in my family. When in doubt, Marcella's watching Little People Big World or the Little Couple. So needless to say, I did not care that our son had dwarfism. I didn't even doubt it. Mike and I, maybe even too quickly, immediately accepted this diagnosis. Denial wouldn't change anything; not accepting it wouldn't make his limbs suddenly catch up to where they should be. Despite my years of "research" er, reality TV watching, I felt so overwhelmed. I didn't know how to take care of an average baby, let alone one with special needs! I had never changed a diaper! I had just gone to work on my registry the weekend before and left feeling defeated. I didn't know what half this crap was, and my baby was supposed to need it? Now I felt that I knew even less to expect. Mike on the other hand, as usual, took the more positive approach. He told me "you have always loved little people and learning about them. You just didn't realize God was preparing you all along to be Brody's mom."

And with one phone call, our entire lives had changed. And Brody's big adventure began. Welcome to our journey!

The Emotional Rollercoaster

We headed up to Children's Mercy the Monday before Thanksgiving.  We were meeting with another Maternal-Fetal Specialist and getting an echocardiogram performed on Brody's heart to make sure it was functioning well.  We arrived at the hospital around 8:30am for our string of appointments which began around 9am.

Our first appointment was the echo.  The echo is performed by using an ultrasound machine to specifically view the function of the heart. Since small chest size is a common finding in children with dwarfism, our doctors wanted to make sure that his heart was doing well.  It was a relatively quick procedure that lasted around 20-30 minutes.  The pediatric cardiologist came in with some great news.

Cardiologist: From what we can tell, your son's heart is functioning perfectly.  There are limitations to the technology, of course, so we cannot completely rule anything out, but as far as I'm concerned, you don't need to see me again.

What a relief!  If nothing else, the fact that his heart is working well has to be positive news, right?

Our next appointment was another skeletal sonogram.  Let's just say this one didn't go as well.  The results were positive.  Everything they found on this sonogram was exactly what they had found before so there was no news there, but our experience left a lot to be desired.  The sono tech was extremely chatty.  I know that she was just trying to defuse the situation with a little idle chatter and humor, but she wasn't exactly paying attention to what she was doing.  She mislabeled which side of the body she was on 4-5 times and had to go back and correct it.  Normally, I'm not one to get impatient, but when the doctor will be attempting to make a diagnosis based on the results of this scan, hush up and focus a little bit!

Then, the maternal-fetal specialist came in.  He sat down and began going over some things.  Obviously, I cannot quote him exactly, but I will paraphrase our encounter.

Doctor:  I'm not going to sugar coat anything.  Your child has some serious issues.  What we commonly see with conditions like this are issues with the chest.  Commonly, the small nature of the chest and the issues with the ribs that can be associated with this kind of condition lead to breathing issues, cardiac issues, and can be very severe.  However, you never know.  This kid could surprise us all and make it.

Marcella: But...We've had sonograms up until this point and everything on there has said that his chest is fine and our echo just came back clear.

*Doctor looks at our sonogram report, then looks over at the sono tech*

Doctor:  How was the chest measuring?

Sono Tech:  Yeah, the chest measured normal for his approximate gestational age.

Excuse me?!  You didn't look at any of the reports from the four other sonograms we've had?  You didn't even take the time to read the sonogram that we just drove two and a half hours to see you for?  You didn't even ask the cardiologist how the echo went?!  Everything that we had been told up until this point was extremely positive.  Our specialist in Wichita saw nothing to make him lean towards a lethal form, and you're going to come in without even looking at our case and our test results and tell us that our child is likely going to die?

I was not happy to say the least.  By this point, Marcella was a wreck.

Doctor:  We would recommend that you deliver up here.  We have a great team up here that would take great care of him.  I would like you to come back in 2 weeks and meet our team who will be following along.  We have a neonatologist, an orthopedist, and they would be able to give you outcomes on when he would be able to walk and what kind of lifestyle he will have.

Yeah, no, no, no, and no.  First off, they had done nothing to build our trust or confidence by giving us a doom and gloom prognosis with no basis.  Secondly, I don't care when he's going to be able to walk at this point, let's deal with getting this little guy here first.

We left Kansas City scared, nervous, irritated, and mad.  I understand that doctors have differing opinions on these things.  Heck, if I showed a case to three of my chiropractic school buddies, we'd have ten different opinions on how to properly treat that patient, but at least take the time to get the right information instead of speaking in assumptions and generalizations that aren't relevant to our case.

The next two weeks were nothing but stressful.  Marcella and I sat and held hands more in those two weeks than we have in the 9 years we've been together.  There were been nights of tears, nights of anger, and nights of prayer.  We both agreed that when we had our next appointment with Dr. Farley (our maternal-fetal specialist in Wichita) we would ask him all of our questions.  We had little-to-no desire to go back to see the doctor in Kansas City unless we absolutely had to.

We went to Marcella's appointment with Dr. Farley this past Tuesday.  We had another sonogram to check Brody's growth.  The appointment with Dr. Farley was nothing but good news.  Marcella is right around 27 weeks along.  Brody's head, chest, and abdomen were all measuring right at 27 weeks.  His long bones of his arms and legs are measuring right around 20 weeks.  So, they are still measuring small, but they are still growing which is a good thing.  They also performed a biophysical profile (BPP) which checks five things:

1. Breathing
2. Movement
3. Muscle Tone
4. Heart Rate
5. Amniotic Fluid

The BPP went great.  Everything was functioning well and he is essentially a healthy baby boy with small arms and legs!  Now was our chance to talk to Dr. Farley.  We told him about our experience at Children's Mercy, what the doctor had said about Brody's prognosis, and everything else.  Dr. Farley reassured us that he saw nothing on any of our sonograms that suggests that Brody's outlook is anything but positive.  The fact that his heart, lungs, brain, and everything else is measuring and functioning well as far as they can tell is very positive for his prognosis.  He also didn't see anything that suggested that we would need to have him in Kansas City as opposed to Wichita.  Talk about a load off!  Marcella has been the emotional one through all of this, but I almost lost it when we got the news that he was going to be okay.

Everyone always says "I don't care what we have, as long as he/she is healthy."  I want to encourage everyone to think about that and realize how much you really mean it.  Honestly, when we found out that we were having a baby, it didn't really hit me for a while.  Even at the 20 week sonogram when we found out that we were having a boy, I still was taking an "Ok, cool," kind of attitude to the situation.  When you are faced with the chance that your baby might not make it, it flips your world upside down.  Brody is the first thing I think about in the morning.  He's the last thing I think about when I go to bed at night.  I would do anything to make sure that he is okay, but there is nothing that I can do but wait and pray.  Until he comes, Marcella and I are doing what we can.  We are hugging each other a little more often. We hold hands for a little longer than we used to.  We pray together.  We are definitely finding out what we are made of and what we can handle.  I'm sure it won't be a completely smooth road from here on out, but I'm certain that I'm walking this road with the right person.  We are just happy that, as of right now, the future looks bright for our little guy.

We are afflicted in every way, but not crushed; perplexed, but not driven to despair; persecuted, but not forsaken; struck down, but not destroyed. - 2 Corinthians 4: 8-9

God Bless,

Mike
#TeamBrody

Our Baby Boy Has Dwarfism

Marcella and I are usually very upbeat when we answer each others phone calls, so when I picked up the phone to the sounds of her crying, I immediately knew something was wrong.

Me: "Hello?!  What's wrong?!  Is everything ok?!"
Marcella: "...they think he has dwarfism..."

Tuesday, October 28th, 2014 was the day that Marcella and I got the preliminary diagnosis.  It had only been four days earlier that we had found out that we were having a little boy.  We were still trying to process the fact that we were going to have a child, so it's no surprise that we were not prepared for this.  I was at the office and had just finished seeing patients for the morning when I got the call from Marcella that rocked my world. 

The world went still around me.  I had shut myself in one of the offices in our building and all I could focus on was the silence on both ends of the phone and the sound of my own heart pounding in my chest.  My little boy has dwarfism.  I was speechless.  We sat on the phone in silence for what seemed like hours when I finally managed to somehow force out a single word,

"Really?..."

The rest of the phone call was a whirlwind that went so quickly that I'm not even sure what was said.  Marcella told me that she was leaving work for the day and I told my office staff to block out the rest of the day for me so I could spend the rest of the day with her.

We arrived home at the same time.  We both got out of our cars in the garage and immediately ran to each other and hugged.  Marcella buried her face into my chest and I wrapped my arms around her and tried to reassure her that everything was going to be alright.  We went inside and spent the rest of the morning holding hands on the couch as we tried to come to terms with the news.

Me: "Well, now what?"
Marcella:  "We have an appointment at 1:45 with a maternal-fetal specialist.  They want to do a follow-up ultrasound at his office and possibly an echocardiogram this afternoon and see where to go from there."

I began researching everything I could on dwarfism.  When I am faced with something new, I immediately begin gathering as much information as I can on the subject.  The internet really is a remarkable tool.  Any information that you are seeking can be found in an instant if you know where to look.  However, when you are in a heightened state of emotion the overload of information can also be a bad thing.  Everything I searched for started leading me down the path of worst-case scenario.

Dwarfism and Down's Syndrome can look very similar on ultrasound exam.

Dwarfism can create many health issues from physical disability to compromised organ function.

Some forms of Dwarfism can be fatal.

I slammed the laptop shut.  These cases had nothing to do with the case of our son.  It was too early to tell and we hardly had any information other than one abnormal sonogram.  It was like putting 10 pieces of a 100 piece puzzle together and asking, "Ok, what is it?"  The questions were flying through my head at an alarming rate.

Isn't it a little early to diagnose something like this on an ultrasound?  I wonder if it's just a false positive?  Maybe he's just a small baby?  Marcella's the tallest person in her family and she's only 5'4"!  How does this happen when we don't have any family history of dwarfism?

The appointment that afternoon with the maternal-fetal specialist consisted of a more in-depth sonogram.  It took approximately two hours as Dr. Farley wanted to get as many pictures and measurements as possible.  When we were done, we were told we would have his report by the end of the week.  We were pleasantly surprised when Marcella's OB-GYN called us a little later that night.  She confirmed that Dr. Farley agreed that it did, in fact, look like our son, Brody, has dwarfism.  His head and torso measured average for his estimated age, but he was measuring small in the long bones of his skeleton (humerus, radius, ulna, femur, tibia, and fibula) by around 4-5 weeks.  Some bowing was seen in the long bones as well.

Brody at 23 weeks

Marcella got a call from Dr. Farley the next evening and he went over his findings.  What they were seeing on the sonogram is consistent with a group of conditions known as skeletal dysplasias. Skeletal Dysplasia is the medical term for "Dwarfism".  There are more than 350 known skeletal dysplasias and each has it's own unique form of presenting itself.  Many times you cannot see hallmark signs of a child's specific form of dwarfism until he/she is born.  After the baby arrives, it is possible to do forms of testing such as radiography or genetic testing to narrow it down to a specific diagnosis.

We had another sonogram with Dr. Farley a week later where he sat in and went over all of the findings that they saw with Brody with us as we saw them real-time in his office.  Overall most of their findings were very positive.  The keys that we took away were:

• His head and brain looked well-developed and on schedule.
• His heart appeared to be normal sized and well-functioning.
• His arms and legs were small.

After we were done, we were encouraged by the fact that as far as they could tell, he did not appear to have a lethal form of dwarfism.  Dr. Farley suggested that we make the drive up to Kansas City to Children's Mercy Hospital to have a fetal echocardiogram (fetal echo) to see how his heart was functioning in a more detailed screen.  Overall, we were very relieved by the news we had gotten during that appointment.  Some good news was much needed at this point and it helped to calm some of our anxiety over Brody's health.  Marcella also had what is called a Free Fetal DNA test done which checks for Trisomy 13, 18, and 21.  Trisomy 21 is Downs Syndrome and Trisomy 13/18 are incompatible with life.  The Free Fetal DNA test came back negative.

If I have learned one thing over the last few weeks, it is how lucky I am to have a woman like Marcella in my life.  My wife is a strong woman and I know that she is going to be a great mother when Brody arrives.  When you get a diagnosis like this, it rocks your world.  It has completely turned our lives upside down, but it has also brought us closer together than ever before.  We know that we aren't the first to go through this, and we don't have to do it alone.  We have the unwavering support and love that our great families and friends have provided to help us along, but it is also important that we seek interaction and advice from those who have walked this road before us.

We'll be okay, and I know that Brody will be nothing short of a perfect child when he arrives, but the waiting is going to seem like an eternity.  I hope you'll follow along.  We are learning everything as we go as Brody is our first child.  We will share our experiences with you all and hope that our story will help parents who find themselves in our shoes, or help people who don't have much of an understanding of dwarfism better understand the unique challenges and presentations of this condition.  Until next time, I leave you with one of our favorite quotes and the theme that we are going with for Brody's nursery.

“Sometimes,' said Pooh, 'the smallest things take up the most room in your heart.”