(long) An update on my niece who we thought might have Downs... — The Bump
Babies: 9 - 12 Months

(long) An update on my niece who we thought might have Downs...

I dunno if any of you remember but I said about 6 months ago my niece (the most beautiful and wonderful girl in the world) was being tested for downs, trisony, etc.  From the moment she was born her face wasn't right and than she wasn't hitting any milestones and flunked her hearing test.

She tested negative for Downs and Trisony and has started doing much better on milestones (although she is still behind).  Well my brother told Chris and I today that what she has is Waardenburg Syndrome.  She isn't hopefully going to be severely mentally handicapped but she will need extra help.  Our big concern right now might be deafness or profound hearing loss.  She might have other defects the are congenital but we will not know for a while.  And of course she will always be different looking. 

 We promised my brother and my SIL that Harmon will always be there to protect her (they likely will attend the same high school even if we stay).  They also asked us to be there to care for her if something ever happens which is a wonderful honor.  I love that little one so much!  The ironic thing is I served a mission working with the deaf community for a year and a half.  Deafness isn't the end of the world and if she has it I know how to help my DB access resources etc early!
So that is my follow up on her Smile  Not the best news but not the worse either.  The Lord always has a plan and I know we are all so blessed to have this angel in our lives.

Mom to Harmon 1/17/08 and twins Rachel & Callum 8/28/09 Photobucket 29o0v13.jpg

Re: (long) An update on my niece who we thought might have Downs...

  • Awww, she's so lucky to have such a caring aunt!
  • Wow, I'm so glad your niece got a diagnosis. That is the first major step in being able to help her conquer all her challenges. I know the pain your BIL and SIL are feeling and I hope this brings them some relief.

    Thank you for sharing her story, she is so lucky to have you in her life. Would you mind reposting your story on the special needs board? Those ladies are always appreciative of positive stories like yours.

    You're the best, Francisca!?

  • I'm sure it's a relief to know what the diagnosis is--cuz now a plan can be put in place to give her everything she needs.  Sounds like she's got tons of love!
    Lilypie Third Birthday tickers Lilypie Fifth Birthday tickers
  • That is wonderful that your mission was with working w/the deaf community. It is ironic how your life leads you to where you are.

    I am so happy to hear that your neice has such a wonderful support group!

  • Sure amajane!  Thank you, I think I am the lucky one to have such a wonderful little girl in my life.  It is a relief for them but they are scared (we all are a little).  I marvel at DB and SIL's courage.  They really have always tried to treat her as "normal" as possible and stay away from the docs except when necessary.  I think this is part of the reason she is thriving!  I just am amazed how you all do it.  You who go through this have all my respect and love! 
    Mom to Harmon 1/17/08 and twins Rachel & Callum 8/28/09 Photobucket 29o0v13.jpg
  • I'm glad to hear that they finally got a diagnosis... It may not be what they wanted to hear but it's a start though....  You are right God does have a plan.  Maybe there is a reason why you guys ended up staying...  You seem like you would be a wonderful support and help to them...  Keep us updated.  I will keep your family in my prayers. Smile
  • As they used to say on GI Joe, "Now you know...and knowing is half the battle."

    I'm so glad they know what they are dealing with, and have a better idea of what to do for your niece, and what challenges she may have to overcome in the future.

    Your brother is lucky to have you. And your niece is lucky to have Harmon. Angel

This discussion has been closed.
Choose Another Board
Search Boards