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Fernanda (@fernandavidigal)

Anyone with keutel syndrome?

About Kids & Teens | Last Active: Mar 17, 2020 | Replies (17)

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Hi my name is Lisa, my son who is 5 was just diagnosed with White-Sutton Syndrome , autosomal dominant, pogz. He also has mild vermian atrophy of the cerebellum we are hoping to get another MRI by the end of the year.
I have been told that only about 30 people have been diagnosed with WSS, I am wondering if this is 30 people in the U.S.A. or the whole world.

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Replies to "Hi my name is Lisa, my son who is 5 was just diagnosed with White-Sutton Syndrome..."

That’s is tough question to answer! In most cases, when someone tells you that there are a specific number of cases of a specific disorder or disease, it means that there have been “x” number of patients that have been confirmed to have the condition, AND have agreed to have their records (anonymous of course, names and locations and any identifiable details removed) included as part of a study of some sort. As I’m sure you are learning, it can sometimes be difficult to find others with the exact same diagnosis. If it is a rare or orphaned condition (very small # of confirmed cases) it’s fairly likely that you will find patients from all over the world. I know that there is at least one FB group dedicated to WSS (the official group is a closed group so you need to send the community manager a direct message to be added from the more public landing page) and you may have some luck connecting with some of the larger Rare Disease Organizations from around the world as well. While I know this doesn’t really answer your question I’m hoping that it at least explains why you keep hearing the seemingly random number of “30”. I’m quite sure that there are more than 30 patients out there, it’s just that the literature only discusses 30 patients.

@lisapraska – I did a bit of poking around early this morning and I think I’ve found a more complete answer for you. I’m sure you know that whole genome sequencing technology hasn’t been around for a really long time at this point, and while the technology is developing at a rapid pace, the science isn’t moving quite as fast. All things considered, they are doing well though! It’s not an easy job to figure out the function and interactions of so many individual genes. White Sutton Syndrome is VERY new- the first publication was accepted in December of 2015. While mutations of POGZ have been noted in prior studies of neurodevelopmental disorders, WSS specifically has only recently been defined phenotypically. There will be more patients identified in coming years. The technology in the past was only able to find very large differences within the genome, then smaller differences (like missing a few genes or duplicated genes), but as time moves on and we learn more about the functions of each individual gene we get closer to what I call “nanotechnology”- the ability to find errors within single genes. The good news is that now that WSS is documented and on the map, there is a greater chance for geneticists to test patients for it, research possibilities, and the opportunity for parents, caregivers and patients to connect and share knowledge and experience. In the meantime, you may find it helpful to connect with parents under “umbrella” diagnoses like paediatric neurodevelopmental disorders, Autism Spectrum Disorders, Developmental Delay or Intellectual Disorders.

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