Diagnosis Road: Cameron's Story (undiagnosed--growth and bone delay/disorder, speech delay)

This story is especially near to my heart because it is about a child who is undiagnosed and yet very obviously has something going on.  I know what this is like and it can be maddening. There are days that I think to myself, "I feel like I could deal with anything as long as I know what it is." 

The (un)diagnosed: Cameron, 2

The ones that love and care for him: Dustin and Carrie, his parents

Name the diagnosis

Unspecified growth delay/disorder, widened metaphyseal bones, severe speech delay, possible anxiety issues

Please tell us as much of the diagnosis story as you wish

It all started at one of our ultrasounds. The ultrasound technician mentioned something about one of the long bones looking shorter than normal (long bones are what they nickname the top bones in your legs and arms). We didn’t think anything of it at the time, and they told us not to worry.

He was breech and I had really low fluid levels so we had a planned C-Section. During the CS, I heard Dr. Ratcliff (who has been delivering babies for 40+ years) say “hm, that’s interesting.” Let me tell you… you do NOT want a man who has been delivering babies longer than you have been alive to think something about your insides are interesting! As it turns out, I have only half of a uterus. This is apparently called a unicornuate uterus. So, when Cameron was born and he was pretty short, they said it was probably growth restriction from being so cramped in my efficiency sized womb. He was only 18 ¾ inches at birth. We didn’t dwell on it and assumed he would catch up.

Until he was 5 weeks old. 

He was taking a nap on his grandma’s chest, and I looked over at him and noticed the top part of his ear was very swollen. We took him to the ER and the doctors were confused. They said that it looked like cauliflower ear, which is what boxers/wrestlers get from getting hit in the head to hard and often. They made an appointment the very next morning for Dr. Touma. We had no clue how this could have happened, but thought maybe he jerked in his sleep and hit his head on his crib, although they said he would have had to do it really hard to do that.

Dr. Touma (by the way, he and his staff are ANGELS) was equally confused. He had not seen this in a child so young, ever. He took a syringe and drained the fluid from the top of his ear and it was completely clear. Again, this was confusing. He said if it was from trauma it should be red or at least pink, from blood. He said it was likely a birth defect, and that the cartilage in his ear did not close together all the way. They put a compression bandage on his ear to help with healing, and we went on our way again.

Until he was 8 weeks old.

His other ear did the exact same thing. Clear fluid this time too. Dr. Touma decided to do a surgical incision this time to see if it would help this ear heal better. The scar tissue from both ears made his ears form misshaped. Dr. Touma referred us to Cincinnati Children’s to an ear specialist. We saw the ear specialist, and he said that his ears looked fine, and confirmed that his cartilage likely did not close together when forming, and that fluid leaked in through the gap. At this point, he was around 6 months old or so, and had not really “caught up” in length. He was growing at a steady rate, but always about 5 – 10^th percentile for height. 

Did you know that there are THOUSANDS of types of dwarfism? Yea, I didn't either. His doctor at Cabell thought that some of his symptoms looked like they could match, and so he had a scan of every bone in his body (holding a screaming 6 month old down for x-rays is NOT fun). She promised us she would let us know as soon as possible, but I did not really think we would hear anything for a while. I am ashamed that I was petrified of that diagnosis. I feel like people with dwarfism are one of the last remaining groups that it is socially acceptable to make fun of. I still remember the knot in my stomach when the doctor called around an hour later. Cam did NOT have Achondroplasia (the most common form of dwarfism). I am ashamed at how relieved I was. One form down, thousands to go…

His doctor noticed that his metaphyseal bones (the ends of the bones) were wider than normal and that his long bones were shorter than normal (remember how we conveniently forgot/repressed they ever told us this?). We were referred back to Cincinnati Children’s to a geneticist and growth/bone/cartilage specialist. He had more tests, more scans, more blood draws. Eventually, when he was maybe 9-10 months old, we went back for the results. The geneticist could not send the blood anywhere because he didn’t know what to have them check for. He was the head of the genetics department at one of the best children’s hospitals in the country, and even he was confused by Cameron. He has some symptoms that are weird, but not enough to place him anywhere specific or with any syndrome. He said we just needed to wait and see if anything else popped up, and check back when he was older.

The growth/bone specialist said that he probably did not have dwarfism, but that he would probably never be tall, or even “average” height. He said he would probably not be any taller than 5’5 (his dad is 6’2 and I myself and 5’6, so we are fairly tall).

Besides being a little short, he developed normally. He walked a day after his first birthday, and hit all his developmental milestones on time. So, we just went on with life and hoped one day we would find out more information about what makes Cam unique.

Until he was about 18 months old. 

At 18 months old, he was not really talking. We waited until his 2-year well visit, and he still wasn’t really saying anything other than ma ma, da da, and ahh-heee (horsey). Because of insurance/referral issues, we did not get started with speech therapy until August of this year, when he was 2 years and 8 months old. He was diagnosed with a severe speech delay, with a probable language disorder (not yet officially diagnosed).

We also had a behavioral/developmental evaluation done on him. He has always had some anxiety issues, and we/his doctor were worried that the lack of communication/comprehension either pointed to a developmental delay or something on the Autism spectrum. He gets frustrated VERY easily, is very uneasy around new people, and doesn’t like loud noises. He also likes to play by himself and it takes him quite a while to get comfortable with people. His psychiatrist did not really think he is on the Autism spectrum, but noted that he does not like to try new things because of frustration/anxiety, and said this could be a possible consequence of the speech disorder.

SO, to recap – Cam is short, his wide bones, short “long” bones, severe speech delay, and possible anxiety/behavioral issues. He has lots of little symptoms but very few official diagnoses.

How does it affect your relationships? 

Dustin and I have been together for close to 10 years and we are a great team in crisis. We pull together and pull each other up from negativity/worry about Cam’s future. Our families are amazing, understanding, and loving. They realize he has different challenges and needs, and they love him so deeply. His daycare staff is amazing and he feels comfortable, safe, and loved there. We are very lucky for the people close to us in life.

What is the hardest part? 

I worry about kids picking on him when he is older--for his ears, his height, his possible developmental challenges. I obsess over his height. Each month I track his height in pencil behind our door, and pray that he has grown even a millimeter.

The very worst part is the frustration on his part and ours from a lack of communication. When I hear children a year younger than him speaking simple sentences when my boy struggles to ask for more breakfast, it breaks my heart. He gets so upset when we do not understand what he wants, and we get upset when he is too tired/frustrated/cranky to try to communicate. Speech therapy has been such a help. 

He still isn’t really speaking much, but we have had some success with sign language. He can tell us “more” and can indicate about 6 different nursery rhymes with signs. He can say a few more words like blow, woah, and yea. His comprehension is improving (I asked him today if he wanted to leave the park, he shook his head no… I nearly cried). He is progressing at a snail’s pace, but it is EVERYTHING to us. 

What is an unexpectedly good part?

I feel like we really FEEL every accomplishment and that it means more to us than it would have if he had developed typically. Every inch he grows, every new sign he learns (even if I am so, so, so tired of singing row, row, row your boat) is a huge, amazing, wonderful moment in our lives. I think because he cannot communicate very well, he has pretty amazing emotional maturity. Even now, I am getting a little emotional writing this and crying a little. Cam crawled up beside me on the bed and laid his head on my shoulder.

Are there certain places you just can’t go and do you have any advice for how the world can be more inclusive? 

Oh Lord, yes. Going out to restaurants is a huge gamble. Because I must have been a horrible person in a past life, his default response to frustration is to emit THE most un-ignorable high-pitched scream on planet earth. If we are at a restaurant and he can’t tell us what he wants to eat or drink, or if he is HANGRY and wants to tell us he is hungry now, or if his tummy hurts, he can’t really tell us and his default is that high-pitched scream.  All of the people sometimes make him anxious. 

You know how little old ladies love to talk to cute toddlers? High-pitched scream to their face. 

Waiters singing happy birthday to the kid in the next booth? High pitched scream until they stop. 

So, I usually take him to the bathroom to calm down. It breaks my heart a little that to most people, it looks like I am taking a bratty toddler to the bathroom to discipline him, when in reality I am taking my frustrated and anxious little guy to let him calm down in peace.

What do you want others to know about parenting/living with this diagnosis? 

I have been around educated, thoughtful, caring people who consider themselves to be good people. People I respect and value. People who, for whatever reason, think it is okay to say midget or to stare and giggle when they see a dwarf.

I worry SO MUCH about his future. I worry kids will make fun of his ears, his short arms, his short stature. I worry he will never learn to talk or that he will have developmental delays his whole life. I worry that he will have trouble making friends or real issues with anxiety.

Still, I love him exactly as he is and am overwhelmed by how amazing I think he is. For all of his challenges and his uniqueness, he is an amazing little boy. He is SO funny and loves to make people close to him laugh. He gives the best hugs in the world (I am biased of course) and takes up every single square inch of my heart.