By Paul Henry / in , , /

At about ten months old, Miriam started
displaying symptoms that seemed as though there could be some genetic
abnormality. We did a chromosomal microarray; it yielded no results but the
geneticists did say there are facial features, bodily features, and behavioral
features that are consistent with some kind of genetic mutation.
We just can’t identify anything at this time. It was frustrating to get the sense
that probably there’s something more complicated than what we can see at the
surface level, and yet not have any answer. When I first met Miriam and her
mother, they came to me after a number of years of frustration. They’d been to
many different specialists and they had been trying to figure out if there’s an
underlying diagnosis for Miriam given all of the different symptoms that she’s
been having. It was great sitting down with Dr. Beirne because she is an expert
in what she does and she instantly put us at ease. UConn ordered a whole exome
sequencing—that is a very detailed test compared to the chromosomal microarray
that we originally did. So that revealed many more details, specifically which
gene is mutated, and in what way. And then ruled out any other complications. So it
was a very specific test that I didn’t know existed before we met with UConn
Genetics. UConn Health is one of two genetics programs in the whole state of
Connecticut, and so the resources for genetics are quite scarce. I spoke
with her mom and I let her know that fortunately, the genetic testing came
back positive, and it was able to give us an underlying diagnosis for Miriam.
She has a syndrome called Wiedemann-Steiner syndrome
which is incredibly rare. I had never heard of it before and with fewer than a thousand people
worldwide diagnosed why would I have heard? The gene has only been discovered
in 2012 and so prior to that there was no
diagnoses or patients with this disorder. Being able to put a name to something
can really give a lot of relief to a family who have gone through what I call
like a medical odyssey or diagnostic odyssey when they come to genetics. It was helpful also because it introduced us to an entire community of families
whose kids have this syndrome. The syndrome that Miriam was diagnosed with
is very rare but one of the important pieces is to make sure that the families
recognize that they’re not alone. It’s a real relief to have a diagnosis. It just
confirms everything that we were seeing— that there is something unique and
different about our daughter.

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