Anyone with keutel syndrome?

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.

Hi!
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.

I am connected with the Facebook group for POGZ White-Sutton Syndrome, and I have asked if any have a abnormal brain MRI, and no one does. Could I be dealing with 2 separate issues, I have noticed that many of them suffer with migraines and cyclic vomiting, yet my concern is that if my son's abnormal brain MRI could be the main cause of his migraines getting more frequent and severe, the school staff that work with my son say yes kids get migraines but not anything like your son.

Hi @lisapraska
It’s hard to say if an abnormal MRI will tell you anything about migraines or their severity because it would depend on what abnormal findings are there. Much of the time the findings are considered “incidental” - which means “We looked inside to see what was going on, didn’t find a big flashing ‘x’ marking the spot...but we saw this on the way.” Frustrating I know, but at least it’s better than nothing. An MRI cannot diagnose or differentiate between migraine, cluster, or tension headache. It can help rule out other things that may be contributing to symptoms. An example would be a build up of cerebrospinal fluid on the brain. A paediatric neurologist would likely be a good fit for you. Migraine is not fun at all and I’m very sorry to hear that your son suffers from them. I know that for adults they usually start with keeping a log of when they hit and how often, what you have been eating (food can be a big trigger) the medication used to treat them, (too much of certain medications can cause rebound headaches that don’t respond to treatment) and other general lifestyle questions. They usually suggest keeping the log (filled out daily, headache or not) for 3 months. It might be worth giving it a try while you wait for your next appointment.
Also keep in mind that sometimes MRI’s show things that look rather “abnormal” but don’t actually hinder the patient in any way. Our brains are so complex that even though the technology is available to see them from the outside looking in, we still don’t know exactly how they work! Keep me posted?

@lisapraska ..... I just reread your post- you think he has migraines, or he has been diagnosed as having migraines? Is he verbal?

@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.

Hi, @lisapraska - thinking of you today and wondering how your son is doing?