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  • Waiting on a diagnosis and eager to learn

    6 posts, 5 voices, 480 views, started Nov 26, 2008

    Posted on Wednesday, November 26, 2008 by Jeansmommy


    • Amethyst

      My 4-month-old daughter was born with extremely low platelets and an enlarged spleen. Her liver is also enlarged, and she was recently diagnosed with laryngomalacia as well (the soft tissue in her throat has poor tone, which causes some breathing issues like stridor).

      We are working with five specialists and our pediatrician right now, and the lead diagnosis from our genetics doctor (the lead on her team) is Niemann Pick type C, which is also known as Childhood Alzheimers and is a deteriorating and fatal disease within a few years (there is no cure or treatment). We had a skin biopsy done two weeks ago, but we likely won’t know the results until after the new year. There is another secondary lead diagnosis, but it is unlikely (Gaucher’s disease) based on the testing we have done already.

      My husband and I have gone through so many emotions these past few months, and right now, I’m in the “fighting” mode. If we end up with this horrible diagnosis of NPC, then I want to do everything I can to fight for her. While we fight, however, I want to do make sure she is as happy and comfortable as possible, so I’m trying to educate myself on the tips and tricks and what-to-expect of taking care of a child with special needs (eventually she will need breathing and feeding tubes, wheelchair, etc. as well as PT, OT, ST and other therapies as her neurologic system declines).

      We are PRAYING that it isn’t NPC or another one of the fatal diseases and that the doctor’s have the wrong diagnosis. But I’d like to learn from all of you...just in case!  

      Thank you for having me here.  [Link Removed] 


      Mom to an 8yo boy with ADHD, 4-1/2yo girl, and a new baby born this July

      Jeansmommy, Your links have been removed, please consider upgrading to premium membership.


        • 0 votes vote up vote up

          Cindy Stewart Penkoff wrote Nov 26, 2008
        • Carrie,

          First let me I am sorry that you are having a difficult time.  Life seems to throw us so many curve balls sometimes, it’s hard to decide which ones to catch and hold and which ones to throw back.

          That being said, it’s the last time I will express sympathy.

          This baby is such a blessing to you and will teach you so much about yourself, you family and your friends.  Your daughter is going to test you in ways you didn’t think were possible and you will show bravery and strength you didn’t think you posessed.

          My best advice to you is to let her lead you.  Give her everything she needs without living for her.  Give her the opportunity to grow in the way she can.  It may not be the same as other kids but it will be her way.  Listen to your doctors, understanding that they do not have crystal balls and can’t read the future.  Trust them, but, trust you more.  Trust your daughter, she will guide you, even at 4 months.  Listen to her with your heart and then just be a mom.

          My son has CP.  He was born at 30 weeks, was in the NICU for 4 weeks as feed and grow.  The day before we left the hospital, they ran the last of his test and told me.  I didn’t have a chance to catch my breath.

          I was told he probably wouldn’t walk on his own.  He may never be able to write his own name legibly.  He not only walks on his own but runs.  He writes not only his name but stories.  He is a straight A student in gifted programs.  

          The only thing I did was only half listen to the doctors.  They said PT, OT, surgery on his legs.  The rest I ignored.
          He told me what he could do and I let him.  Jeffrey doesn’t know he has a disability.  Does he use a walker in school, yep, for safety.  Does have an aide, yep, for safety.

          He is a cubscout, soccer player, musician, fundraiser for the ACS and the most loving child I know.  He can engage a 5 year old in conversation or a 50 year old.  He is now 10.

          You are her mom for a reason.  A reason only God knows right now.  Someday he will let you in on the secret, but, for now, let him keep it.  You have everything you need right now.  A husband and 3 fabulous children.  Each of them as different as the days is long.  “If he brings you to it, he will bring you through it.”

          God Bless and Happy Thanksgiving.

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        • 0 votes vote up vote up

          (華娃娃) ChinaDoll wrote Nov 26, 2008
        • You, your family, care givers and medical team will be added on my prayers list.

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        • 0 votes vote up vote up

          Encee wrote Dec 17, 2008
        • jeansmommy,

          You, your husband and children, will be in my thoughts and prayers.  I am hoping that a miracle happens for you and your little one, whichever way the diagnosis goes.  Keep that fighting spirit.  Your baby understands that feeling and she’ll fight right along with you.  

          May God Bless You!  


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        • 0 votes vote up vote up

          (華娃娃) ChinaDoll wrote Dec 17, 2008
        • I visited the link on Hannah.  I will visit that more periodically.  Keep up the good work.  I pray strength for everyone.  +++

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        • 0 votes vote up vote up

          Jeansmommy wrote Dec 17, 2008
        • Thank you so much everyone for the positive thoughts —Hannah has the most infectious laugh and sweetest smile.  She just warms my heart everytime I look at her!

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