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.

Monday, October 17, 2011

Caught Off Guard

Today's update:

     Sawyer has been slow moving today.  He fell asleep for the night in his mother's arms at 7PM.  We miss our hard charging boy.

     He has been walking with a pronounced limp for several weeks.  Of course, it looks even worse after he's been running around.

     The limp is probably related to the issue with his bones.  The extra phosphate in people with kidney failure pulls calcium from their bones. He is on a prescription to help remedy this problem.  Time will tell if it works.

Caught Off Guard:

     Saturday I took the boys to the ODU football game. We usually make it to one game a year and it is a big event for us.  Sawyer usually goes, but he was not up to it.

Ben and Will
enjoying ODU Football!

      After the game, the boys and I had dinner at our favorite steak house. After we  finished our first basket of rolls,  I asked them to share their thoughts about Sawyer.  I expected a bit of a gripe-fest because Sawyer has been unbearable and especially mean to them ever since he started taking steroids .

     I was blown away by their answers.  As soon as I asked and  without hesitation, Will said, "He's incredible" and Ben said "He's amazing, so strong". 

     Because their answers caught me off guard, I hesitated and then pressed them by saying, "guys, he's been so mean to you.  I'm surprised by your answers."  Then I gave them another chance to gripe by saying,   "It's o.k. to share your frustrations".  Ben responded, "Dad, he's been through so much... we understand."  Will nodded quickly and definitively in agreement.

     It was a proud moment for this dad. 

Tuesday, October 11, 2011

Raw and Intense

Today's update 10/11/2011:
     Sawyer experienced a lot of pain during his dialysis last night and this morning.  He bounced back very well as the day went on and we are praying for a better night tonight.

Video from the hospital:
    I was unaware that we accidently recorded some candid video of  Sawyer in the hospital during one of his steroid fits. This video is raw and intense, but  it will give you a sense of what we have been dealing with since he started taking the steroids.

Monday, October 10, 2011

Pig Toes and Poor Vision

     Many are aware of Sawyer's kidney failure, but most do not know about his chronic eye issue.  

     In 2009, Karen and I observed Sawyer struggling with symptoms of blindness  in low light situations. A low vision specialist was able to quickly confirm the night blindness and severe myopia (poor vision).  She suspected Sawyer's condition to be a rare eye disorder called "Retinitis Pigmentosa". 

 "Pig toes… What?!?"

     In 2010, we visited Duke University for specialized testing. Although the test was definitive, the diagnosis was not.   The Duke eye specialist said Saywer's eyes had characteristics of Leber's congenital amaurosis, but this usually presents itself at birth or within the first few months after birth.  Therefore, she said in general terms that Sawyer had a cone-rod disorder or a retinal dystrophy.

     At this point, we do not know how Sawyer's condition will progress.  Everything I read indicates that these disorders get progressively worse and typically end in blindness, but we really do not know. 

     We have considered doctors from all over the country.  However, we found one of the best eye specialist to be here in Hampton Roads. 

     All of the other specialists had warned us that glasses would not significantly help Sawyer's vision, but this doctor gave us a good prescription and encouraged us to get the glasses. 

     We wasted no time getting those glasses and they made a huge difference!  Sawyer has good vision with glasses except in low light situations where  he still has night blindness.

     This doctor has also been working hard to determine if there is a connection between Sawyer's rare eye disease and his rare kidney disease.   It appears his suspicions will turn out to be true.  On Friday, our kidney doctor got back the results from the genetic testing.  We are still processing the all of this information, but it does indeed appear to be a connection. 

     We will share more soon, but it looks like some of the puzzle pieces are starting to come together.  We have a lot to consider and understand.  Again, I will share more as soon as I can.

     Thank you for your continued prayer and concern for Sawyer and our family.  So many of you have been walking this out with us and we are grateful!

Friday, October 7, 2011

Sawyer Update 10/7/2011

     Today Sawyer went through several rounds of tests including ultrasound to further confirm what the doctors suspected. 

     Sawyer's dehydration is the source of his low blood pressure, which is causing the temporary blindness, muscle spasms, dizziness, etc. Also, one of his medications is most likely exasperating the symptoms.

     The muscle spasms are what inflicts the pain he is struggling through. Sawyer has had a few spasms today, but nothing like the last few days.

     Most would think… give Sawyer fluids, he gets re-hydrated, blood pressure levels out and he is back in business. However, the kidneys help regulate blood pressure and Sawyer's kidneys are not functioning. So, regulating blood pressure is not so simple.

     We have made more adjustments to his dialysis treatments. This will help get him balanced with fluids and blood pressure. Also, he has been taken off all of his blood pressure medicines. This will get us there faster as well.

     Thank you for all of your prayers. It is a huge blessing to know so many people care!

Thursday, October 6, 2011

Partying Thru The Pain

     We are back on the roller coaster again, but hoping the ride will be short this time.   So, buckle up for the update…

     Sawyer continues with the belly pain, but we have a few more issues to work through.

     Today he fell when he stood up for the first time. We caught him and then he had a horrible episode of the "belly" pain. So bad, he could not cry out because he was struggling to breath through it. Very hard to watch, harder for him to go through.  It lasted 10 minutes and it wore him out as he slept for 3 hours after it ended.

     He continued to have these episodes throughout the morning.  Then, the one time he tried to walk, he walked across the room and stopped.  A puzzled look  appeared on his face, he wobbled and started to fall.  We caught him again.

     This time it was not pain related.  He said his eyes were "freaky" and said he was "dizzy".  This continued for about ten minutes.

     The next issue was the most "freaky" (to borrow a Sawyerism).  He lost his sight for a few seconds when he sat up.  We suspected that this happened before, but he clearly communicated to us this time.  He said he could not see and everything was dark.

     After much consultation with the medical team, the loss of sight was caused by orthostatic hypertension.  His blood pressure is actually too low today.  So, they feel confident this is the cause of his momentary blindness.

Sawyer's blood pressure has been low since yesterday and they also suspect he is dehydrated.  So, today we are holding off on all BP meds, giving him some salty foods (Doritos are his preferred chips) and releasing him into a Slurpee binge.  

     Basically, we are partying through the pain. So, go get yourself a Slurpee today in honor of Sawyer and say a prayer for him.  Thanks for caring! 

Wednesday, October 5, 2011

Update 10/05/2011

     Sawyer's episodes of pain continued throughout the night and became even more intense this morning.  Each episode lasts 10 to 15 minutes and 5 of those minutes are excruciating for him.

     We have been in contact with the kidney clinic throughout the day.  Sawyer's doctor suspects that one of his new medicines is causing the issue.  We have stopped giving him this med and will try a new one soon.  Also, he will have more tests done on Friday morning including an ultrasound.  Hopefully, the pain will have subsided by that time.

     Although the pain is intense, Sawyer does not appear to be in any danger and we are grateful that we do not have to return to the hospital. We trust his doctor's discernment as she and the rest of the renal team are first class and take great care of Sawyer.  We continue to be grateful for God's provision through them. 

Tuesday, October 4, 2011

New Episode of Pain... UPDATED

   Sawyer has been experiencing a new episode of pain in his sides over the last few days.  Today it intensified.  He is at CHKD right now being examined.  Thank you for praying!

UPDATE: The examination, along with the x-rays, revealed nothing. That's good news. However, this pain is not a constant. It comes and goes... and it was gone in the doctors office.

      When he experiences it, it's intense. So, at this point, we will just ride this out and see what happens.

      I know a bunch of you were praying today. Thanks for praying and reaching out.