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lisapraska
@lisapraska

Posts: 33
Joined: Apr 18, 2017

White-Sutton syndrome

Posted by @lisapraska, Thu, Nov 9 12:19pm

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.

REPLY

Posted by @colleenyoung, Sat, Nov 11 5:36pm

Hi Lisa,
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.

lisapraska
@lisapraska

Posts: 33
Joined: Apr 18, 2017
Posted by @lisapraska, Sun, Nov 12 1:54pm

@colleenyoung , 36 cases just in the US or the whole world?

Posted by @colleenyoung, Sun, Nov 12 9:34pm

I’m not sure, Lisa. Did you read the thread between Jenn and Fernanda here: https://connect.mayoclinic.org/discussion/anyone-with-keutel-syndrome/

snicoledenny
@snicoledenny

Posts: 1
Joined: Dec 01, 2017
Posted by @snicoledenny, Fri, Dec 1 7:55am

My 11 year old daughter was just diagnosed with White-Sutton Syndrome. I would love to connect to other families with the same syndrome!

Posted by @colleenyoung, Fri, Dec 1 4:31pm

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?

jennsprung
@jennsprung

Posts: 23
Joined: Jun 24, 2016
Posted by @jennsprung, 5 days ago

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!

Posted by @colleenyoung, Mon, Dec 4 1:21pm

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?

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