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Wiedemann Steiner Syndrome Awareness

Meet Charlee!
#littlestwarriorwednesday where we #spreadawareness

Charlee was born full term with a full head of black hair. Everything was text book, from the pregnancy, to delivery. The first night after her birth she began choking on amniotic fluid and although I used the aspiration bulb I couldn’t help her clear it and she began turning blue. My husband ran for a nurse and she whisked Charlee our of my arms and down the hall. It was one of the scariest moments in ours lives at that point. After running various tests, the neonatologist said she had some pulmonary hypertension, which they thought would clear on its own as her body became more acclimated to life outside of the womb. I was discharged after two nights in the hospital, but Charlee was struggling to keep her O2 levels up while she was nursing, so they kept her in the NICU after I was discharged. Two nights later we received a phone call at 1am and my heart stopped. Charlee had another episode where she stopped breathing, turned blue and the nurses had to perform CPR on our sweet angel. I don’t think I will ever get that night out of my head. Over the next 16 days Charlee had two more desaturation episodes and every test imaginable was run with no definitive answers. Finally, they did a swallow study and it showed she was constantly refluxing, which was causing her esophagus to close and with her low muscle tone (also diagnosed later) she was unable to open it up again after she would reflux. At six months old she was seen again by the geneticist, who we first saw in the NICU and he performed whole exome sequencing, which revealed that Charlee had Wiedemann Steiner Syndrome. Wiedemann Steiner Syndrome is a mutation of the KMT2A gene located on the long arm of chromosome 11. WSS causes low muscle tone, global developmental delays, GI issues, unique facial features, spinal anomalies, excessive hair growth, and behavioral issues. WSS is a fairly new Syndrome and there are only around 300 diagnosed worldwide. It is also a syndrome that usually occurs “De novo” which means it is a spontaneous mutation and is not passed down from the parents. Thanks to social media and Facebook, we have found other families who have the same diagnosis and it has been an immeasurable resource for learning about WSS, the community is amazing and has become a part of our family!



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  • Thank you for sharing your story! Our SWAN (syndrome without a name) was born in 2012 and after starting our journey with the many different doctors/consultants/geneticists, we were entered into a UK research project, the 100,000 Genome Project, in 2016. Finally, in 2021 we have received a diagnosis or close to one, “a variant of uncertain significance in KMT2A, otherwise Wiedemann-Steiner syndrome.” Looking over the pictures of other little WSS Warriors and scouring online to learn all that I can about WSS, I know I have found my SWAN’s tribe. I would love to connect to other families who are on this journey and any advice on where else to look would most certainly be appreciated.

  • I am a nurse and have been searching for the diagnosis for my child, which I knew was not autism! We are in the process today! I think my son has WSS! He meets all of the markers both physically and behaviorally! I’m in tears today! Scared, but relived…if that makes any sense!!!???

    Natasha Sheridan
  • Wow, this story is so incredibly similar to my own daughter’s, though her chromosomal abnormalities are not on chromosome 11. She couldn’t take in any fluids for 10 days after birth bc she would stop breathing and have to be resuscitated. She also had reflux but it was never explained in a way that your daughter’s doctor explained it. Perfect sense. Thanks for sharing your story!


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