White-Sutton syndrome

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?

Hi,

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

Wilkom, 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

There seems to be several families finding this forum, but we are also starting a foundation to help White Sutton families. If you'd like to get updates, you can register your email address at http://www.whitesutton.org. There is also a community started on RareConnect at https://www.rareconnect.org/en/community/white-sutton-syndrome that we will be administering.

My son is 7 right now. He's had some serious health issues throughout his life (global delay, dysphagia, microcephaly, epilepsy...the list is long). However, he is by and large a joy for our family. Of late, our biggest struggles have been with aggressive behaviors and a persistent stomach condition that seems to plague a lot of these kids (he's been in the hospital 5 times in as many years for this).

Hi there I'm keen to know more about White Sutton syndrome as I have just had a diagnosis for my adult daughter who's 24 she's had numerous tests and investigations since shortly after birth when she suffered a brain haemorrhage and out of the blue today one of her genetic doctors called and said they finally have a diagnosis after new tests on her stored blood I've mixed feeling tonight but mostly relief that we have an answer after so many difficult years

Welcome to Connect, @debmac. I can understand the mixed feelings you must be experiencing. It has been a long road for you and your family. With the diagnosis, will there be any changes in her care?

Having a diagnosis at long last doesn't mean any changes in her care it has indeed been a long and difficult road and continues to be with fresh challenges that come with being a young adult I've got so many questions going round in my head but we're not seeing the genetic team till September after they've completed some more tests I do however find comfort in the fact that there are other families out there who understand and finally we are not alone!