Undiagnosed and rare conditions
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Hi, my daughter 4 has a rare chromosome duplication

jublyjubly Member Posts: 1 Listener
My daughter has 17q12 chromosome duplication which is the cause of her global developmental delay microcephaly and hypermobility. She also has asthma and being investigated for possible seizures. 
Just wanted to say hello


  • JennysDadJennysDad Member Posts: 2,308 Pioneering
    Hello @jubly and a warm welcome to the community. Very sorry I could not get back to you sooner.
    Although there would appear to be some key differences, your daughter's condition seems very similar in some ways to that of my late daughter, so I have some idea of what you must have gone through in the last 4 years. If there is any similarity in our experiences, you must have been through some very dark places.
    I hope very much that you will feel free to share and to tell us any ways in which we might possibly be of help to you.
    Very warmest best wishes, 
  • steve51steve51 Community champion Posts: 7,175 Disability Gamechanger
    Hi @jubly

    Good Evening & Welcome Along.


    I must admit that this is a new one on me.

    Don’t worry as I will still offer my “Full Help & Support”

    In the “Meantime” I will look into this 100% for you!!!!!   

    Please please let me know if I can help you in anyway??? 
  • Pippa_ScopePippa_Scope Member Posts: 5,856 Disability Gamechanger
    Hi @jubly, and welcome to the community!
  • mossycowmossycow Community champion Posts: 495 Pioneering
    Hi there?

    How old is your daughter? I have a ten year old. 

    I know you posted about her conditon...have no experience of it or genetic conditions but, wanted to say hi! 

    "I'm trying to live like a random poem I read that ended 'to bloom where we are planted"

  • Pippa_ScopePippa_Scope Member Posts: 5,856 Disability Gamechanger
    Hi @jubly, how are you doing?
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