Tuesday, October 25, 2011

Closer To A Diagnosis

     Yesterday, we had an important meeting with Sawyer's kidney doctor to discuss the results from his genetic testing. 

     First, let me reiterate how grateful we are for the medical team taking care of Sawyer.  Our family has been so blessed by their diligence, patience (especially in long meetings with all of our questions), competence and great  compassion.  Yesterday's meeting was another expression of this blessing.

     Our meeting brought some clarity regarding Sawyer's health issues.  However, it also left us with a few more  questions and, unfortunately, more concerns.

      As I shared in a recent post, Sawyer has a retinal dystrophy that is causing him severe myopia and night blindness.  The doctors have suspected for some time that Sawyer's End Stage Kidney Disease (ESKD) and retinal dystrophy could be related to a genetic issue.  The results from the genetic testing affirm this theory.

     The results show that Sawyer has a chromosome abnormality in an area that impacts kidney and eye function.  People with a rare syndrome called RHYNS syndrome have this same abnormality.  So, another genetic test will be used to confirm (or rule out) a diagnosis of RYHNS syndrome.

     Within this syndrome (and other syndromes), the kidney disease is due to a genetic disorder called nephronophthisis or medullary cystic kidney disease.  Recent ultrasound tests showed that Sawyer's kidneys are shriveling up and forming cysts, which is indicative of nephronophthisis.

     Unfortunately, people with RYHNS syndrome also develop more health issues in addition to ESKD and retinal dystrophy.  If Sawyer has RHYNS, he could also develop liver fibrosishypopituitarism and skeletal dysplasia.  Sawyer will go through more testing over the next several weeks to determine if these other issues are developing in him.  

     The news is disheartening, but there is much we do not know.  Therefore, Karen and I are working hard to not worry about tomorrow's battles and only deal with what God has for us today. 

     I apologize for not updating the blog over the last few days.  I know a lot of folks check-in daily so they will know how to pray.  We are grateful for and cherish every prayer.  Also, we need your prayers, especially Sawyer.

     Sawyer has grown very tired of dealing with his condition.  He hates that he can not do what other kids do and eat what other kids eat.  He is sick of taking all of the medicines and refuses them every time.   Mix his frustrations with doses of steroids and you have a battle royale.

     Truth is, like Sawyer,  we are all a little sick and tired.  However, we are hanging on and hanging on is all we really have to do.

     Thanks again for your prayers and support!  We will continue to keep you in the loop as we get more info.

11 comments:

Audrey Lewis said...

One cannot even imagine the waiting you are going through, the exhaustion you must feel, the questions still unanswered, the hearing things that appear to only complicate his condition more, but I liked what you said, Toby...that you deal with what you know for today and not worry about tomorrow's added concerns or things that have not been confirmed or surfaced yet, IF AT ALL. I continue to pray for your strength for today, for your grace for today that GOD says will be sufficient( though sometimes it doens't feel that way. ) and for whatever you may have to face....that GOD will clearly guide and provide all that you will need when that times comes for that NEXT STEP. Love you guys and my heart is tugging on a daily basis for you all...so I keep praying.

Family Times and Challenges said...

Joy w/o Sorrow, Peace w/o Pain. These are the words that came to me as I continue to pray for your family. You continue to be such a great inspiration to each of us as we pray for you.

The Becker Family said...

Our family prays daily. In the short term may God give you creative "milkshake" ideas to reapproach the med.routine. And for
the long haul- wisdom,grace and peace in the battle-and perseverance when necessary.
Sunday, Eric asked us in the sermon who we would take to Jesus(like the paralytic who was lowered through the roof)...we will gladly carry Sawyer...in love and prayer...

The Becker Family said...

Our family prays daily. In the short term may God give you creative "milkshake" ideas to reapproach the med.routine. And for
the long haul- wisdom,grace and peace in the battle-and perseverance when necessary.
Sunday, Eric asked us in the sermon who we would take to Jesus(like the paralytic who was lowered through the roof)...we will gladly carry Sawyer...in love and prayer...

Lori West :) said...

wow. You guys have been on my heart lately - watching you go through this - on and on and on . . . I can't even imagine the exhaustion (on many levels).
It's good to finally get a reason and diagnosis -but I know it must be very disheartening to hear the doctors tell you all this about your precious little boy.
Praying for TOTAL healing for your little guy! God - pour your love out on the whole DeBause family today! Pour out your healing love, your comforting love, your strengthening love . . . pour out more of you on them today!
Fill Sawyer with joy and peace (as well as the whole family) and start to reverse what the enemy has stolen from him! We declare health and wholeness over Sawyer today! Eyes - be healed! Kidneys - be healed! Body - be healed! Thank you Jesus that you died not only for our sins - but "by your stripes we ARE healed!" We declare healing over Sawyer today!
Strengthen Toby and Karen - and give them your divine wisdom and insight in caring for their son. Let their hands be your hands, let their arms be your arms, and may Sawyer see and feel and know your presence and love through Toby and Karen - every day!
Give them supernatural strength and energy to get through each day God! Send your angels to minister to them day and night - to protect, to minister peace, joy and abundance of health! :)
Thank you God that you are in the midst of this all - and that you have never and will never leave any of the DeBause family! Thank you for your incredible and limitless love for all of them!! Bless them abundantly - in every way!

Love you guys!!
Let us know how else we can help! You guys mean a lot to us - and it breaks my heart to see you all have to go through this. You are an amazing family and amazing people!
Love ya!

Lori :)

Joan and Jan B said...

Dear Toby and Karen,
I woke up with you on my heart and mind ... and that was before I read the Blog. No wonder the H.S. was tugging at me to pray fervently. I know what's on your plate at work, Toby, and can't even imagine how you're keeping everything together with this heartbreaking saga going on at home. I'm sorry that we've been MIA in the past few weeks. Life has been crazy here, but I won't belabor my lame excuses. Just know that you aren't out of our minds and prayers.

Still plan to bring Cupcake by to see Sawyer after I get through my deadlined work. Just know that we are praying for God's provision of grace, love, mercy and blessing. I know someone said it beautifully in another note.

We love you,
Joan and Jan

Jill said...

Toby and Karen,
I cannot even imagine all the emotions that you are experiencing. I wish that I had some great words of wisdom and comfort, but all I can say is that I am praying for you all and I will keep praying.

Anonymous said...

Continuing to lift Sawyer up to the Lord and you all as well. We understand when there's no post and we have enough details to continue praying during those times. Some days, we just have nothing to say but praise God for the Holy Spirit who intercedes on our behalf. God is in this with you. We have the victory in this...only through Christ Jesus! May God our Father continue to comfort and strengthen Sawyer and all of you. Praying that He give you and Karen great wisdom to make the right decisions for your little boy. ~Love Always! Vernicia

Deb said...

Don't know what to say - you know I'm joining you in prayer. I love you all.

JJ said...

Relieved for you, Karen and Toby, that the mystery of Sawyer's health issues are are being solved. As much as I dislike the possible prognosis, my hope and prayer is that knowing=solutions. Regardless, we serve a BIG God.

Holding you all up in prayer, Debause family!

{{Hugs}}
JJ

Five Times Blessed said...

I continue to pray for you all. May you feel the love of those praying for you and call on their help if you need to be lifted up. Your strength is inspiring. Love to you all.