Mayo Clinic Connect
Anyone dealing with White-Sutton syndrome, (POGZ) I would like to know more on this very rare syndrome, any and all information is greatly appreciated.
Liked by Teresa, Volunteer Mentor
I’d like to introduce you to a couple of parents who have searched for answers for very rare genetics diseases. Please see this discussion between @jennsprung and @fernandavidigal https://connect.mayoclinic.org/discussion/anyone-with-keutel-syndrome/ Like you, Fernanda has a child with an orphan disease. There are only 36 cases reported in literature. While the conditions are not the same, I hope that you can offer support for one another.
@colleenyoung , 36 cases just in the US or the whole world?
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I’m not sure, Lisa. Did you read the thread between Jenn and Fernanda here: https://connect.mayoclinic.org/discussion/anyone-with-keutel-syndrome/
My 11 year old daughter was just diagnosed with White-Sutton Syndrome. I would love to connect to other families with the same syndrome!
Liked by Colleen Young, Connect Director, Teresa, Volunteer Mentor, jennsprung
Welcome to Connect, @snicoledenny. I’d like to introduce you to Lisa @lisapraska, who’s son was also recently diagnosed with White-Sutton Syndrome. Click on Lisa’s username to read more about her journey to getting to the diagnosis. I know Lisa would love to connect with you.
Nicole, Getting a diagnosis is often a journey with many twists and turns, and plenty of hard work on your part. What can you tell us about finally getting a diagnosis? How are you doing?
Hi Lisa and Nicole, I was thinking about you both today and hoping that you will be able to connect here on Mayo Clinic Connect. Given the rarity of White-Sutton Syndrome, I’m glad that you’re not alone. Nicole, we look forward to getting to know you better. Lisa, how are you doing?
Hi @snicoledenny ! It’s nice to meet you! You’re daughter is the same age as my son- he has some special needs as well but we don’t actually have a name for what his genetic condition is. I’m curious to know how if this was the first time they ran a genetic screen for your daughter? We had one done when my son was about 3 when it was quite apparent that he was globally delayed but now (here in Ontario, Canada anyway) it seems that they are less likely to run a genetic screening as our kids age. I found it all easier to understand and come to terms with once we got the results. How have you managed? Are you both doing ok?
I’m so happy to see that you and @lisapraska managed to both find your way to Connect!
All my best!
Liked by Colleen Young, Connect Director
Hi Lisa and Nicole! My son also has White Sutton syndrome (he was actually one of the original 5 examined in the Baylor study done by Drs White & Sutton). Good news: there is an active private facebook group of many other parents. In addition, my wife and I have started the ball rolling to get White Sutton Syndrome Foundation going. I'm currently building whitesutton.org (there's a link to the Facebook group there) and hope it will be a great tool for everyone affected by WHSUS. Hope this helps you both!
Hi @pixelauthor, and welcome to Connect. So amazing to have you join the conversation. With such a rare condition as WSS, it is so important to connect. Your Facebook group has been recommended before on Connect (https://connect.mayoclinic.org/discussion/anyone-with-keutel-syndrome/?pg=1#comment-80304).
I appreciate you bringing your knowledge and experience with your son to Connect as well.
How old is your son now? Can you paint us a picture of what daily life is like for you and your family? (Only as you are comfortable of course.)
My daughter was also just diagnosed with White-Sutton Syndrome, and I am desperate to learn more about it. She is a happy, healthy, social girl who just turned 3 and suffers from developmental delay, most notably in expressive language/speech.
Liked by jennsprung
Welcome to Connect, @mgd11
I'm confident that @snicoledenny and @lisapraska will join me in welcoming you. Can you tell us more about your journey to being diagnosed with White-Sutton Syndrome?
I am a mother form a 12-year old son in the Netherlands, who has a POGZ mutation.
I am not on Facebook, but would like to connect with more parents with children with the white-button syndrome.
Thank you, Rachel
While we wait for others to join you here on Connect, can you tell us a bit more about you and your son? How old was he when he was diagnosed with WSS? We look forward to getting to know you.
Erik is now 12 years old and even though that we knew that he was different from his birth, the diagnosis that he had a mutation in POGZ gen, was received in 2014. He was at that point the 3rd child identified by the Dutch genetic research group and for us, it was a relief that we knew what was causing his challenges.
Erik is a lovely and sociable boy, but needs a lot of structure and has troubles learning new and abstract topics. We are proud that he has learnt to read, write and calculate, even though it is not at a level of his peers. on the other site, he is very practical and always looking for opportunities to help others. He has an autism diagnosis. Very noticeable have been his eating problems, that had started directly after his birth. He is now eating normally, but has his preference and habits.
Looking forward to learn more!
We are in the process of starting a foundation to help parents just like you. The website (www.whitesutton.org) is still under construction, but we've put together a packet for the families of newly diagnosed WHSUS patients, that has been reviewed by Dr. Sutton himself: https://whitesutton.org/downloads/WHSUSexplained.pdf
Liked by Colleen Young, Connect Director, lioness
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