Isn’t it always the case – the more answers you get, the more questions you have. And while some things I learned in school continue to have no applicability in my every day life (another day goes by that I have still never used Algebra, Mrs. Edwards), this is one thing that I experienced in school frequently, which continues to prove true in my adult life.
The day finally arrived. It has been 1 year, 6 months and 29 days since the word ‘dwarfism’ was first uttered in connection with our pregnancy. That is 82 weeks and 2 days. 576 days that have gone by, not a single one where we have not been searching for answers.
Now – don’t get me wrong, we aren’t sitting here desperately asking why this happened to us, why it happened to him, how can we make sure it doesn’t happen again. And while early in the pregnancy we may have questioned why in that context- all that quickly goes out the window when you meet Asher – because at that moment, you know exactly why. Because that is who he is – that it how he was created – that is what it took for him to be the absolute bundle of perfection that he is. And there are so many people, especially fellow parents of children with a form of skeletal dysplasia, who have often said "his diagnosis is that he’s perfect – just enjoy him and don’t worry about putting a name to it". But let’s face it – that is so much easier said than done, and while I stopped sitting on pins and needles like I did when he was younger, I won’t even pretend like I ever stopped wanting to know what Asher’s exact condition was.
I would note, the majority of these parents that are so nonchalant about it have children with Achondroplasia – which is the type of dwarfism with the most well established body of research regarding potential issues and medical concerns, many of which had none and were able to raise their child just like any other child – without any significant medical intervention – which is amazing! And it is a great outlook to have, that our children are just like any other child and should be raised as such. But just like any other medical condition, ignoring it does not make it go away. And having already ruled out Achondroplasia, and knowing that other types can frequently have more significant health concerns, I was desperate to know how we could ensure that Asher was receiving no more, and no less, than the best medical care he needed. I didn’t want him to continue to be scanned, poked and prodded unnecessarily since they were unsure of what to monitor for – so they just monitored everything. But I also didn’t want to skimp out on close monitoring of things that would truly benefit his daily life if he received early intervention when things started to go awry (hip dysplasia and spine issues being top and center of my mind). The best way I could describe it is that I want a map of our journey that shows me where all of the potholes are in the road ahead, but it isn’t possible to get that map if you don’t know what your destination is yet.
And here we are today – results in hand – that tell us that Asher’s DNA sequencing revealed a mutation of his COL2A1 gene, which is consistent with the clinical diagnosis of Type II collagenopathy. Clear as mud, right?
Back when we had the International Registry of Skeletal Dysplasia’s review Asher’s xrays, they came back with two suggested types which his bone structure strongly indicated. The first type was extremely rare, so rare in fact that they have yet to determine which gene causes it. That type is called Spondylometaphyseal dysplasia, ‘corner fracture’ type. Asher has unique ‘beaking’ on the corners of his bones that appear at first glance to be fractures, which is very unique to this one type. But Asher’s similarity to that type essentially started and ended there. The other features and characteristics of his bones were shown to strongly indicate a type called Spondyloepiphyseal dysplasia – congenita (SEDc). SEDc is considered to be one of the top 5 most common types of dwarfism. Since Asher showed traits of both types, the IRSD was unable to give a diagnosis and suggested further labwork to help determine what his official condition was. While there is no commercial genetic test available to test for SMD Corner Fracture type, we sent off Asher’s blood to have the lab test his COL2A1 gene to see if they could find a mutation. And voila – a one sheet piece of paper that has a lot of words on it, which presumably provide us with answers – but in reality provide us a lot more questions.
We know the exact nature of Asher’s genetic mutation that led to his skeletal dysplasia. While SEDc is one of the types that is caused by mutations of the COL2A1 gene, there is a variety of other types as well that result from mutations of that gene, such as Kniest, SEMD Strudwick type, and SED. Since all of these types are caused by a mutation of the same gene, to determine which type Asher has will involve geneticists looking at the exact location of his mutation to see if any other individual has ever reported the same mutation – otherwise, they will evaluate based on his skeletal makeup to determine which type his features resemble the closest.
So when our answers simply led to more questions, we decided it was time to see the best of the best. So off to Delaware we go – to one of the best skeletal dysplasia clinics in the country. While I love Asher’s local team here, and truly believe they do the best they can to provide him absolutely wonderful care – chances are they have never seen a child with a COL2A1 mutation (aside from his geneticist, of course – and his dietician/nutritionist, who happens to have SEDc herself).
So until then – we will continue to smother our nugget of joy with love and affection, and marvel at how beautiful and perfectly made he is. We had a 0.001% chance of having a child like him – and while we may have never won any money playing the lottery, we sure did win the jackpot with Asher.