Monday, December 22, 2014

Good News/Bad News

Sam really did good but had a funny expression for this picture

Dr Aquavella and us

Good news/Bad news....the story of my life it seems.

Sam did so good during his exam that he does NOT have to be put under anesthesia!  This is the first time for him and I never thought it would happen but it did.  Everything looks good except it seems his glaucoma pressure is slightly elevated and we will have to add an addition eye drop twice a day. It is ok.  We used to do 44 eye drops a day so just adding two more is nothing.  All in all the change is small and should be easily controlled.  Otherwise he is doing great!

The bad news, although it was expected, is that Sarah's eye is dying.  It has shrunk significantly and the reason it is blood red is that the eye lid is irritating the eye as it is sagging.  The reason it shrunk is that when the eye dies, it gets smaller.  She seems to have some light perception still.  The only thing we could do is to put a shell on the eye, it would hold up the eye lid but we won't do that till her light perception is gone..  So it's sinking in that I will  have to watch my precious girl go completely blind.  To most of you, she is already blind but to a mom of kids with all kinds of vision issues, she is not "black blind" she sees light, maybe colors, sometimes she puts her face on mine and she looks intently into my face, it's not much compared to "normal" kids but it is to me.  It's not that I didn't know this was coming, Dr Aquvella warned us over two years ago but now it is happening and I'm afraid it will happen fast.  The eye has shrunk so much in the past month that there is an empty space between the side of her eye and her socket. 

Sometimes I just have to wonder WHY I seem to be asked to go through so much heartache?  To watch your child go blind is horrible.  We had to do that with Sam but we were able to fight it and won.  With Sarah there is no hope of any medical intervention.   Please pray that Sarah will get used to this as it happens and she won't be frightened.  Pray that she will feel so much love that her little heart won't be sad.  Again I know she doesn't have much sight to lose but I've seen her enjoy the little sight she has as she pulls a light up toy close or puts her face towards the heart is sad....very sad. 

I'm just so glad that she is with us as she faces this.  And as always it's just one more thing to make me look forward to That day when everything will be made new.....

Well we could leave to come home tomorrow but we think we will wait till Wednesday as planned as the roads should have less traffic- who's sorta the old saying "six of one, half a dozen of the other"  We are all so tired today.

On the way up,we got a call from Sam's geneticist on Friday. Sam is so unique that they've asked Jon & I to be tested AGAIN. Evidently his DNA is very complex & interesting. He presents 100% clinically as Peter's Anomaly-with his eyes, small size, heart defect...but he doesn't have the markers in his DNA. Now they have an even more advanced DNA test. It's really cool that the scientists at Univ of Wisconsin are studying him so in depth!! Sarah will be tested too.  This is mainly for research purposes.  It's interesting. 

Again thank you all for your prayers......


  1. Of course you are sad.Watching our children go through anything like that is hard. The good thing is she has y'all to help her. Sweet Sarah. Give her an extra cuddle tonight.

  2. My prayers are with Sarah and that she will not be afraid, And for her loving parents. My heart aches for you all, but knowing how blessed she is to not be going through this alone Is definitely good medicine. I love you so much!

  3. Have they ever thought of Lenz Syndrome? It's super rare,,, but he looks like he could have some of the other characteristics.

  4. Good for Sam! No anesthesia is excellent news. I am so very sorry to hear about Sarah's eye. Her sight is the sight she knows, is precious, and no parent wants their child to lose that! But I am so glad she is your daughter and you her mom and you can face this together.
    We hold out hope that someday all will be made new and well and whole. Praying for her peace and comfort, and yours also.