We do not know what type of dwarfism Asher has yet, and part of the reason they are having such a hard time narrowing it down and getting a diagnosis is that he doesn't have any distinguishing traits that typically present with the most common types of dwarfism.
There are somewhere between 300-400 different types of skeletal dysplasia. Who knew, right? Achondroplasia is the most common type of skeletal dysplasia, and is the diagnosis for somewhere between 80 to 90% of all Little People (depending on who you ask). So once they rule out Achondroplasia, many of the doctors start scratching their heads. And as the mother of a child with skeletal dysplasia that does not have Achondroplasia, it can be unbelievably frustrating.
Each type of skeletal dysplasia is linked to a particular gene and a specific mutation found in that gene. There are genetic tests that they can do to determine what type of skeletal dysplasia - but since it involves testing thousands of different genes to find the specific diagnosis, the doctors make every attempt to narrow it down to the most likely 20 or 30 by looking at x-rays of the bones, and making notes of every possible distinguishing characteristic. The shapes of the ends of the bones, the degree of bowing, the spacing between the vertebrae, which parts of the bones are shortened, how depressed the nasal bone is, the spacing between certain fingers, the position of the thumbs, etc. are all traits that will help the doctors narrow it down to certain types of skeletal dysplasia.
For the most part - Asher has shortened long bones, and a shortened ribcage. Period. Asher's hands and feet are average, he does not have any distinguishing facial features, his arms and legs are not bowed. He is just very short. Asher was only 15.75" long when he was born - which is shorter than average even for babies with skeletal dysplasia. The average baby is between 19" and 21" at birth. At 6 months old, Asher is now 19.5" long. There are not any of visibly noticeable traits that really help narrow it down to help the doctors find a diagnosis.
When Asher was a few months old we received the results from the initial skeletal dysplasia screening panel, which tested 162 of Asher's genes for the most common types of dwarfism. The panel came back showing that Asher did not have any of those types of skeletal dysplasia - so we were back to square one. Asher's pediatric geneticist kept trying to comfort me by reminding me that Asher is safe - his lungs are big enough to support him and he is healthy - so there is no immediate urgency to find a diagnosis. Public Service Announcement: that is not super comforting to a mom who wants more than anything in the world to find out a diagnosis for her child. So we continued along in our path of self diagnosis (A.K.A. - Google).
My husband came home one day after I took the picture above and asked me to look up what type of dwarfism Verne Troyer has (the actor who plays Mini Me in Austin Powers). My husband likes to think of himself as a seasoned pro when it comes to faces and recognizing similarities between people - and something about this picture reminded him of Verne Troyer. So we looked it up and spent the next several days finding all of the information we could about Cartilage Hair Hypoplasia. For the first time - the pieces all seemed to fit. All the way down to Asher's blonde hair (which up until that point had always been a source of amusement for my fellow brunette husband who, much to my chagrin, loved to make jokes of mistaken paternity).
The two main outwardly apparent traits of CHH are shortened long bones and blonde hair, regardless of the hair color of the parents. But then panic set in as I read more about how CHH is often accompanied with an immunodeficiency problem. My worst fears started to come true right before my eyes. All the doctors up until this point kept telling us to just focus on the fact that Asher was healthy. Yes, his arms and legs were short - but he was healthy! But now dread started creeping in - was he really?
When Asher was about 4.5 months old, he caught a cold. That is to be expected, right? - he was a daycare baby after all. With that cold, came a brutal cough. Also, to be expected, right? Babies cough. But this was something we were warned about from the first time Asher saw his pulmonologist in the NICU - Asher's lungs are extremely small because of the size of his ribcage. Small lungs + inflamed lungs + croup = one worried mama. But we powered through and with the use of multiple inhalers and breathing treatments every few hours, we got through it.
Correction - we thought we got through it. Long story short, Asher ended up in the ER a couple weeks later because he started throwing up and refusing to eat. We spent a week in the hospital where they found that Asher had 3 respiratory viruses at the same time (always the overachiever...). After some bloodwork they confirmed my fears - Asher is immunodeficient. While this was not good news - it was at least another piece to the puzzle.
While a mother never wants her child to have to be in the hospital - I will say that a few good things came out of our stay. We finally met an incredible doctor who has a lot of experience with children with dwarfism (hallelujah!). The hematologist that they had run the blood work to test Asher's immune system studied in England at a facility that saw a large number of Little People. So we finally had a doctor who was wanting to run all of the tests we had been wanting his doctors to run all along: growth hormone levels, thyroid levels, brain MRI, updated skeletal survey, hair study, immunology panels, etc. A doctor who finally appreciated the need for a diagnosis sooner, rather than later, and was experienced enough to know how to go about getting that diagnosis. So I continued to focus on the silver lining of our little hospital stay.
So we are still continuing our path to a diagnosis. Some days it feels like we are making more progress than others. I dread receiving the rejection letters from our health insurance company stating that the tests the doctors are ordering are not "medically necessary". So for now, diagnosis or not, we are living the dream of award winning baby snuggles, nonsensical jibber jabber, and the beautiful sounds of giggles and belly laughs.