When Teach was with us last week, she received the call from the genetics team. Her lttle guy was diagnosed with Mowat-Wilson Syndrome...
We received genetic testing results back this week and we were not shocked to discover that Twizzler had a missing portion of the ZEB2 gene on his 2nd chromosome (I think...?) He has been diagnosed with Mowat-Wilson syndrome.
The geneticist mentioned this specific syndrome back in January so I have already done a lot of research - we are happy to hear the answers for everything that has affected Twizzler so far. I included a link if you’re curious to know more. Here are some highlights:
🎈His facial features are very similar to other MWS kids. The ears are just so adorable!
🎈It is considered a rare disease with only about 350+ documented published cases, but researchers believe it is under diagnosed.
🎈Similar to a genetic syndrome like Downs, there is not “cure” and he will require aid and support forever.
🎈His heart and urology problems as well as reflux and constipation are all explained by the diagnosis.
🎈Most of the kids with MWS have seizures. He had another one this week. There is little research on if they outgrow them because the disease was only discovered 23 years ago.
🎈It is a spontaneous chance at conception - but Andrew and I will be genetic tested just to make sure.
🎈He will hopefully learn to walk between 3-4 yrs of age, but because he pulls to stand and cruises, they think it could be sooner!
🎈Many MWS children never talk, have limited speech or use augmented systems like sign language. We will wait and see.
🎈He will be closely monitored by neuro-genetics and pediatric development teams at CHOP Children’s Hospital of Philadelphia. It is the second best pediatric hospital in the country.
🎈Twizzler will continue his three hours a week of therapy and potentially that will be bumped up depending on what Development thinks he needs.
I will be documenting his (and our) journey on a blog I am in the process of setting up for him. Heavenly Father told me that Twizzler would be special and He was so right. ♥️ We are not sad or angry about this diagnosis. We feel peace and hope in knowing that we have a very special son.
He is wonderful. I hope all of you, my friends, will be able to meet him at some point, because he has brought something special with him. ♥️ We sure love our little guy.
https://mowat-wilson.org/living-with-mws/mws-genetics/
And one amazing thing is, whenever he sees me, he ends up smiling. For all these years, I had a feeling there was a big connection between the both of us and this is the answer!😊❤👍
ReplyDeleteThanks for sharing this. He is an adorable one, and you can tell with his smile, he is a special one for sure, not because of the disease. We have a granddaughter with osteopetrosis, another really rare disease, and her's is more serious. She is blind and autistic. However, she is cheerful and has some amazing skills with math and music. She is a treasure to us all.
ReplyDeleteSending love and hugs to this cute one!