Quite the title! And so much to share to explain…
I’ll try to be concise and to focus on the most important aspects.
First, it’s been almost 5 years since my last post, so of course, things have happened.
Second, among those things, we have received a genetic diagnosis (which has led us to a group of parents of individuals with the same mutation) and that changed everything.
Finally, I just re-reading my last post, published on January 18th 2016, and I realized that in almost 5 years, everything has changed, but nothing has changed, except we found the egg!
In “the chicken or the egg”, I wrote about autism vs intellectual disability, about primary vs secondary diagnoses, about correlation vs causation, and about the repercussions of all of that on access to services and the image it gives us of Cédric and his functioning.
Thanks to a genetic test, from what the geneticist told us and what we understood from it, Cédric’s genetic mutation is the cause of and the explanation for all his diagnoses: autism, intellectual disability, epilepsy (and the rest). So scientifically speaking, it is in fact the egg, and philosophically speaking, it has also made a world of difference in our understanding and perception!
Cédric has a de novo genetic mutation (which means it’s not hereditary) on the DLG4 gene (on chromosome 17).
In his case, it is a frameshift mutation.
The DLG4 gene is responsible for the production of the PSD95 protein. As a result of his mutation Cédric only produces half of the protein. And PSD95 is a scaffold protein. It is therefore very central to brain function and influences the production of 60 to 80 other proteins. So it has major consequences.
The fact that a clear cause explains everything changes nothing in and of itself, and many would say the cause doesn’t matter, but for us it’s reassuring, it helps us better understand the why and the how.
Unfortunately, there are only about 40 cases diagnosed in the world for now. Fortunately, this is 2020, and the world is small. We have joined about 15 other families affected by a DLG4 mutation in a Facebook group and the feeling is that of finding our clan.
Contrary to our experience in groups centred around autism, the commonalities between Cédric and the other “DLG4” individuals are incredible. The other parents’ experiences are very similar to ours and we recognize ourselves in their comments and descriptions.
It is a reassuring and enriching exchange.
Since it is the infancy of the scientific discovery of the syndrome, it’s still being defined by the medical teams. The various researchers working on it around the globe are in the process of establishing the phenotype. But if the information we have, a group of parents has decided that the current medical term being used (for now vague and not very pretty) just won’t do! So we have adopted the term SHINE syndrome, an acronym for the symptoms most commons in our children:
S: Sleep disturbances
H: Hypotonia
I: Intellectual delays
N: Neurological disorders
E: Epilepsy
They have created a website which described SHINE syndrome and shares our families’ experiences as well as articles and research, and which will help with awareness: http://shinesyndrome.org/ They have also created a logo for the syndrome.
I really like the choice of the term SHINE and their choice to include stars in the logo. However, for me, for some reason, in my perception of who Cédric is, the genetic aspect is crucial. So I would have liked the logo to include the genetic aspect and being a bit of a rebel, I decided to make my own version (among other things for my blog). I kept many aspects (title, stars, main colours) and I added a stylised strand of DNA (which I designed myself), and since I love rainbows… So here’s my version of the logo (which you can also see in the new header at the top of the blog):
I could talk about so much more: what it all means for potential treatment, what it hints towards as fas as autism goes, what repercussions it had on services, the decisions it lead us to take, etc.
But the main thing is: we feel like we found the egg!
