White-Sutton syndrome

My daughter is 35 and was diagnosed with autism in childhood. She also has bipolar mood disorder. Through SPARK for autism-Simons Foundation at Rush-free whole exome sequencing we found out that she has White-Sutton syndrome or what is also called pogz-related syndrome back in May. She is somewhat high functioning and verbal but has always had significant motor issues (the hypotonia described when you read about the syndrome). There is a foundation now and a private Facebook group for parents which I highly recommend. Very informative. I also have descriptive information from SPARK and one research article from daughter's psychiatrist.

Hi, @illinoismom, and welcome to Connect. Glad that you were able to get the testing done and get some answers on a diagnosis for your 35-year-old daughter. You mentioned she is high-functioning and verbal, but has significant motor issues.

Hoping other members in this discussion like @pixelauthor @debmac @mgd11 @lisapraska @snicoledenny @jennsprung will return to greet you and share more about how their loved one with White-Sutton syndrome is doing lately.

With the symptoms she has, illinoismom, is she able to work at all?

She was mainstreamed in school with the now fading 1:1 aide model before there was even a concept of paraprofessionals as aides. She earned an associate's degree (first time in school with out aide) from local community college in her 20's which took her six years-going part-time, getting an exemption for math, and ending up with a general degree. She works part-time doing shredding and collecting the items from offices to be shredded in a local developmental disabilities agency. She needs more work and more structure. Also volunteers at public library. This was at first temporary paying job during renovation of the library-never became permanent job as renovation money was overspent and several full time employees were actually laid off.She lives in her own apartment in subsidized (HUD-Section 8) housing with many supports from family and from staff through the agency where she works. She had to win a state lottery for the supports. Staff and parents transport her everywhere. She loves to swim. She does equestrian therapy--but only for part of the year when it is available. Vocational transitional services were not good when she was graduating from high school. When she was toddler through junior high the world didn't understand autism yet. On and off I always wondered what was underneath it all biologically. I have had people ask what difference it makes to know about the syndrome now. I believe knowledge is power and that the more research the better for us to know what to expect and how to help her manage as she ages.

@illinoismom - sounds like your daughter has accomplished a lot with her associate's degree, part-time job, volunteering and having her own apartment. Since White-Sutton syndrome has many features of autism spectrum disorder, I'd also like you to meet @mamacita and @gingerw, who have talked about their own autism on Connect.

Will you share more about the equestrian therapy your daughter is doing? How have you seen this impact her?

@lisalucier Thank you for tagging me in this thread. I don't have insight to this disorder, but also suffer from a very rare disease, and must say I am tickled to hear you have resources and support groups! My disease has less than 50 diagnosed worldwide, and probably no one else in the U.S.

Autism sometimes is used as an umbrella term, and indeed presents a wide variety of symptoms, the combination seemingly individual to each person. In my case, while daily functioning and care is no issue, and the ability to hold a full time job that required a variety of intelligence, my personal interactions with others was an insurmountable wall. I see things black-and-white, with little space for gray. My senses are hyper, as in I feel deeply on physical and emotional planes, and have little tolerance for what my mind perceives as false. On the same hand, I am very empathetic and helpful. It's quite the conundrum!

Good for you, @illinoismom and others, for championing for your loved ones!
Ginger
p.s. I tried twice last night to post but was unsuccessful

Hi Deb, I know this thread is old, but our three month old son was in the hospital with a bran hemorrhage and seizures a week after birth. He was full term. We recently received the diagnosis of white Sutton syndrome due to the genetic testing they did in the hospital... although it was by chance because his official diagnosis was meningitis (although every culture came back negative). I was wondering if you could share a little about what happened with your daughter and her hemorrhage and her history as she then grew with both conditions. Thank you!

Welcome to Connect, @bethbrown604. I can't imagine how difficult this has been, both for your baby and yourselves.

Unfortunately, Deb has not posted since 2018 and I'm not sure if you will receive a response from her, but am hopeful someone else chimes in with their experience. I'm not familiar with the syndrome but found White-Sutton Syndrome Foundation which shares family stories, research and other helpful information:

White-Sutton Syndrome Foundation -
https://whitesutton.org

Beth, how is your son doing now? Are his symptoms being managed?

Hi! He is doing extremely well. Bleed has cleared and is acting completely normal except for some low tone issues, which he is receiving PT for. He was in the hospital and ventilated for his seizures so they say that's to be expected. He does have some hydrocephaly, opposite what you would expect of white Sutton, and his diagnosis was by chance because they ran a full gene panel trying to confirm meningitis. We are praying he has a mild form of the disease but we just won't know for a few years. Which is so hard.

Ohhh, I'm so pleased to hear your boy is doing extremely well! Have you had a chance to check into the White Sutten foundation website I provided? I'm really hoping you're able to gain insight in reading family stories. Ironically, today was our Connect Mentor meeting with a Mayo Clinic genetic counselor as our guest speaker. She confirmed that going directly to the foundations website is a great resource and also suggested to follow up with your son's genetic counselor through patient portal in order to keep communication flowing and ask any questions is helpful.

May I ask if you are satisfied with the results you've received thus far from his testing and the current hospital and doctors, or might you consider a second opinion?