So, those of you who are really observant might have noticed the change in our subtitle here at The Cute Syndrome.

Strictly speaking, Esmé is no longer undiagnosed. Now, its gonna get a little dense, but promise me you will read through to the end, ok?

Like everything with my beautiful girl, that notion of no longer being “undiagnosed” is not as clear as it might seem…One of the many, many, many genetic tests that we have run in the last two years turned up a very small mutation, known as a missense mutation, on a known epilepsy-causing gene. Esmé’s particular mutation is “previously unreported”–meaning that in the history of looking into and recording such things, no one else is known to have had her particular mutation.

…sounds like Esmé, am I right?…

In the case of this disorder, which is quite rare, as you might imagine, people are slowly being diagnosed as access to genetic testing increases everyday. Many of the mutations they are discovering on this gene are also “previously unreported.” However, researchers can predict how such a change alters the proteins in the body and the location and type of mutation Ezzy has should cause problems consistent with this disorder: Epilepsy with clustering seizures and developmental delay.

…geez, that really sounds like a diagnosis to me…

And it totally may be.

However, the profile of the disorder, as it exists currently, based on known cases, does not include severe hypotonia, severe GERD, feeding difficulties and some of the other remarkable features of The Cute Syndrome. So, it may be the case that Esmé is simply an unusual example, or that there are aspects of this relatively new syndrome that haven’t been documented…Or it may mean that she has a second syndrome.

Yeah, I know…

And, if I am being honest here, we have had these results for a little while now…and we just weren’t ready to share. It seemed–still seems–so incomplete of a picture. The syndrome, known as PCDH19 Related Epilepsy (also referred to as Juberg-Hellman Syndrome and the awful (and inaccurate and outdated) Epilepsy in Females with Mental Retardation (EFMR)), is a perfect fit for Ezzy’s epilepsy–right down to the turning blue. It also describes a range of behavioral issues that may be somewhat consistent with Esmé’s personality and a spectrum of developmental delays from none to severe. But, again, Esmé’s most marked feature, her extremely low tone, does not fit with the current clinical picture of the disorder.

However, this weekend something changed for us. We became aware of a small international community formed around PCDH19. This community is tightly linked with ongoing research in Melbourne, Australia and in the US at the University of Michigan and Stanford. These researchers are working on curative treatment for PCDH19 Related Epilepsy.

Yes, you read right: They are working on a cure…

What “a cure” means is not entirely clear to me…nor, I think, is it necessarily totally clear to anyone. But it is a hope…a hope of never having to reset that seizure tracker again. We are going to be doing everything in our power to aid in their research.


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