International Adoption Book

Friday, April 24, 2009

Usher Syndrome

I freely admit that I am a pessimist. I think of the worst possible scenario and replay it over and over in my head. On the positive side, I am always prepared for the worst thing that could happen and am never surprised when it actually occurs. In addition, I'm always pleasantly surprised when my negative scenarios are proven wrong. That's always a nice occurence.

When we first brought C home, though, I predicted that she had Usher Syndrome. She has such horrid balance. She never really showed night vision problems, but that's not saying much since she utterly refused to get out of bed in the dark. She would even lay in her own feces, wide awake. In fact, I always thought she was trained to stay in bed no matter what. In the last few months, though, C has finally overcome her need to wet or poop in bed and is actually getting up on her own to use the bathroom. What a joy that has been, I can tell you. But in doing this I have noticed that she stumbles and shuffles about in a dimly lit room... In fact, the other night, when it was clear and fairly bright, C went to the bathroom. In doing so, she was reaching out in front of her and inching her feet along the floor as if she couldn't see. I could see with such clarity from all the available light that I could nearly see the individual splotches of spackling on the walls (and I wear glasses for distance).

Today, though, has confirmed, in my mind at least, that C will soon be diagnosed with Usher's Syndrome. A couple of weeks ago I took M and C to their new pediatrician. During that visit they had their vision checked. Poor C showed a marked decrease in vision since her last eye exam; she went from a slight vision problem that really didn't need to be corrected to 20/40 vision. So, I immediately scheduled an eye exam for her.

The results of that eye exam (with a much more competent practitioner, I must admit) was that "her eyes are like those of a 40 year old" and that all of her tests indicate she has "Retinitis Pigmentosa (RP)". Her doctor told me that she has "very little peripheral vision" which totally explained why C walks all over things that are left laying on the floor as if she doesn't have a care in the world about destroying it or even as if she couldn't see it... Come to find out she really can't see it! Proving this was a picture of her retina. It showed C's retina to be filled with clusters of little black dots, which are used to diagnose RP. The National Institute on Deafness and Other Communication Disorders (see link below) states "An early sign of retinitis pigmentosa, compounded by deafness, is a near-certain indication of Usher syndrome."

At the onset of the appointment today I mentioned Usher Syndrome and my concern about it affecting C. After seeing the results of today's exam the doctor decided she wanted to do some research on Usher's over the next few weeks. She wants us back in about a month to review her findings. I'm still trying to get the kids' medical records sent down from Ft. Lewis. They will come in handy when trying to confirm C's medical history, which will help confirm or deny the possibility of Usher's.

Well, we'll work with what we've been given. I'd rather C be diagnosed earlier rather than later, if she's going to be diagnosed, in order to help her (and us) learn how to live with this syndrome. Hopefully we can all learn different and more inventive ways to communicate more fully with each other before she goes fully blind. Here's hoping and praying that I'm wrong. But if I'm right, here's hoping and praying that she can learn how to live a happy, healthy and productive adult life and that we can learn how to communicate to the fullest extent possible!!!

Either way, I think this is a great learning tool for others so that they, too, can be aware of this unique, but rare, syndrome. I've included a few links to allow those of you who are interested to get a more educated understanding about what Usher Syndrome actually is:
National Institute on Deafness and Other Communication Disorders: (The latest findings regarding Usher's)


Heather BT said...

Two things Firstly, thank you very much for your gift to help bring Calliandra home. It made my Day!

Secondly, you know where to come for help w/VI issues don't you ;) I think Calliandra may have the related Stargardt's syndrome (but she hasn't seen the Dr yet so who know's I'm guessing ffrom the med reports.)

Anyway, email me off line if you have any questions, or want to know the different places I go for info. Think I have your email, will send a link to an org. your way.
Heather BT

Carol and Taylor said...

My thoughts and prayers are with you and your family, and am hoping right along with you for the best news possible.

Stay strong.

Hugs from Miami,

Carol and Taylor

Mary Ellen said...

Your attitude and strength in the face of yet another challenge is an inspiration to me.

My prayers, as always, are with you.

I admit I am not familiar with Ushers, but I appreciate the links so that I can go read about it. God bless you and your family.

Patricia Lindner said...

I admire your strength in every situation. I also hope that C will be fine. She actually is fine because she has a family. We miss you all.

Jeanne Flock said...

Hey Mannette-
Sorry to hear the diagnosis, but I'm glad it was not a surprise to you. She's a terribly lucky little girl to have you for her Mama b/c you will always give her the best. Hope you are doing well in all other aspects(are you fat yet?) and enjoying your environment! I am loving Wi thus far. My new # is 608-372-3443. PLEASE give me a call or get in touch via Facebook. I wish I could just walk over and knock on your door. Miss you all....