Wednesday, April 21, 2010
Monday, March 8, 2010
25 Million+, It is time to care about rare disease
I wanted to see if I could get your quick help. Change.org recently launched the 2010 Ideas for Change in America competition.One idea is titled: 25 Million+, It is time to care about rare disease.. I thought you might be interested in getting involved and recommend you check it out.
You can read more and vote for the idea by clicking the following link:http://www.change.org/ideas/view/25_million_it_is_time_to_care_about_rare_disease
The top 10 voted ideas will be presented at an event in Washington, DC to relevant members of the Obama Administration, and then promoted to Change.org's full community of more than 1 million people. So we could have a real impact.
Thanks for the help!
You can read more and vote for the idea by clicking the following link:http://www.change.org/ideas/view/25_million_it_is_time_to_care_about_rare_disease
The top 10 voted ideas will be presented at an event in Washington, DC to relevant members of the Obama Administration, and then promoted to Change.org's full community of more than 1 million people. So we could have a real impact.
Thanks for the help!
Wednesday, March 3, 2010
The Liberty Bell
It sure is a good thing that we have Zoe - this past week she was given a 1st grade social studies project to work on. It helped me to keep my mind off our wait :)
Her Living Museum project was the Liberty Bell.
Today at school she presented her project in front of he classmates and all their parents. I have to say, both Doug and I were rather impressed by her public speaking ability - she spoke loud and clear and needed no help (this wasn't the case with most of the kids in her classroom)
I just wanted to share a picture of her as The Liberty Bell.
Tuesday, March 2, 2010
Time Going By
The time is passing quicker (at least for the moment) then I thought it would.
Only 4 - 6 more weeks left......as I keep saying let's keep our fingers crossed it won't be longer. I have met some families who had to wait 16 weeks - these mom's and dad's must have the patience of a saint.
Family Updates:
Zoe is doing really well. She has been healthy and no issues in a while with her. Spring break and her BIG #7 birthday are almost here. 7 going on 17....she can't make up her mind of what she wants to do for her birthday.
Doug is having his moments. I think all the waiting and worrying is really taking a toll on him.
Me pretty much the same as Doug.
Zachary......this kid is an AMAZING little kid. He has his bad days (more often then not lately). Yesterday we got the good news he may graduate from ST soon. That has been a long time in coming but with the good news there seems to always be bad to follow.....His SM is awful and out of control - to the point of not talking to therapists he's had for years now. There is also a new concern from the SLP about the possibility of Auditory Processing Disorder http://en.wikipedia.org/wiki/Auditory_processing_disorder
Hopefully this will not hinder his graduating from ST - we will see in the coming months.
Only 4 - 6 more weeks left......as I keep saying let's keep our fingers crossed it won't be longer. I have met some families who had to wait 16 weeks - these mom's and dad's must have the patience of a saint.
Family Updates:
Zoe is doing really well. She has been healthy and no issues in a while with her. Spring break and her BIG #7 birthday are almost here. 7 going on 17....she can't make up her mind of what she wants to do for her birthday.
Doug is having his moments. I think all the waiting and worrying is really taking a toll on him.
Me pretty much the same as Doug.
Zachary......this kid is an AMAZING little kid. He has his bad days (more often then not lately). Yesterday we got the good news he may graduate from ST soon. That has been a long time in coming but with the good news there seems to always be bad to follow.....His SM is awful and out of control - to the point of not talking to therapists he's had for years now. There is also a new concern from the SLP about the possibility of Auditory Processing Disorder http://en.wikipedia.org/wiki/Auditory_processing_disorder
Hopefully this will not hinder his graduating from ST - we will see in the coming months.
Saturday, February 20, 2010
Copy and Paste
Hopefully one of these days I'll get back on here blogging better.
This is from the past week off of Zach's CaringBridge site......
Tuesday, February 16, 2010 3:54 PM, EST
Sorry I wasn't on here yesterday - it was a VERY long day of appointments.8:00am we were at the hospital and with Zach's complicated medical history the appointment took longer then they anticipated. We received all the information for his procedures.Left came back to the hotel for a little while then it was on to......11:00am The medical records I sent were so good (according to the doctor), this appointment took shorter then we thought. About an hour and 20 minutes. It was a really good appointment and I LOVE Dr Shoffner - I'm so glad Emmy told us about him and truly feel he is going to find something. The way he was talking --- it sure sounds that way. Doug and I were both equally impressed by the wealth of knowledge he had of Zach just from reading the records....it was all typed up and he still didn't need to refer to it when speaking with us, he described our son to a T ----- unlike any doctor we have ever seen with Zachary :)1:30pm came along and it was time for Zach's RMR. He did so well! I have pictures but need to post them when we are home.Today 2/16/10 we were up at 4:30am and at the hospital at 6am. Surgery was going to start at 7:30 but started just a little late. We were very worried about Zach but it went well. Zach did "Great" according to the doctors. They took many new precautions to help Zach - mainly because of them looking at mito as a possibility and also partly because of Zach's previous experience with not being able to hole his own oxygen levels after surgery. This is common with children who have the types of issues Zach has -- according to Dr. S, now does that mean Zach has mito - we don't know yet, but from how Dr Shoffner was talking I'll be really surprised if he doesn't. I'll write more about the appointment when we are home.Right now Doug is stuck with the kids in the room and I better make sure they are all okay.Thank you all so much for your prayers and support - it has helped us threw a very tough time. FYI we will have the results from Dr. Shoffner in 6-8 weeks and the report will come right to our home --- fingers crossed, more prayer, and all the positive thoughts you have for some answers, and for it to come quickly!
Thursday, February 18, 2010 8:38 PM, EST
We are home, safe and sound - catching up on rest. Sleeping in a hotel no matter how nice it is, is never a replacement for the comfortable warmth of home.We came home yesterday and picked up Otis. He was happy to see us and boy were we happy to see him. It amazes me how much animals really do help us humans with stress.Grandma and Pada came by for a welcomed visit. Both kids and puppy were happy to see them - we were too :) After they left we spent the day resting. Zach was in and out of pain and his irritability levels were super high. I'm happy night came quickly and both kids are sleeping peacefully.I think I'm about to follow suit....Night!
Friday, February 19, 2010 1:41 PM, EST
WOW is all I can say! My head is spinning from the e-mail we just recieved from Dr Shoffner's office.No real news to report - the tests aren't done. The e-mail was 9 pages of clinical notes from our appointment on Monday. I simply can't believe we got something so fast. Let's keep our fingers crossed the tests come quickly as well. I'm wondering what his little cells are doing right now.The e-mail has information on all the tests that are being ran 26 in all. It also tells us more detail about the things he is looking into finding:
Cerebral folate deficienciesMitochondrial DiseaseDisorders of creatine metabolismChildhood onset myotonic dystrophy *type 1It says that the tests will be back in 6-8 weeks or longer depending on rate of cell growth. The one thing that has me choked up is this information:Defects in oxidative phosphorylation can be associated with the features described above (this refers to in the conclusion of Zach's symptoms). It is important to consider the possibility that this patient could harbor a nuclear or mtDNA mutation that is related to the clinical presentation. MtDNA mutations can be sporadic or can be segregating at very low levels within other family members making distinctions between nuclear and mitochondrial mechanisms difficult. I am by no means a doctor but I feel, just as I felt in the appoinment, that Dr S will find Mito. I just hope we don't hve to go further with this and all be tested at some point.
Saturday, February 20, 2010 9:21 AM, EST
Zach was up 2 times last night with issues BUT no screams or tears, that was the nice part. Now if only we knew what was causing these sleep disturbances - so we could all rest.His leg seems to be doing well. He hasn't used any pain medication since Thursday :) Zach is still limping and I'm noticing him turning in his feet (a lot) if it doesn't stop I will talk with the doctor this week and also his therapists. He has had issues with turning in of the feet all along but it comes and goes so nothing has ever been done about it. I don't know if it is happening more now because of his surgery or not.
This is from the past week off of Zach's CaringBridge site......
Tuesday, February 16, 2010 3:54 PM, EST
Sorry I wasn't on here yesterday - it was a VERY long day of appointments.8:00am we were at the hospital and with Zach's complicated medical history the appointment took longer then they anticipated. We received all the information for his procedures.Left came back to the hotel for a little while then it was on to......11:00am The medical records I sent were so good (according to the doctor), this appointment took shorter then we thought. About an hour and 20 minutes. It was a really good appointment and I LOVE Dr Shoffner - I'm so glad Emmy told us about him and truly feel he is going to find something. The way he was talking --- it sure sounds that way. Doug and I were both equally impressed by the wealth of knowledge he had of Zach just from reading the records....it was all typed up and he still didn't need to refer to it when speaking with us, he described our son to a T ----- unlike any doctor we have ever seen with Zachary :)1:30pm came along and it was time for Zach's RMR. He did so well! I have pictures but need to post them when we are home.Today 2/16/10 we were up at 4:30am and at the hospital at 6am. Surgery was going to start at 7:30 but started just a little late. We were very worried about Zach but it went well. Zach did "Great" according to the doctors. They took many new precautions to help Zach - mainly because of them looking at mito as a possibility and also partly because of Zach's previous experience with not being able to hole his own oxygen levels after surgery. This is common with children who have the types of issues Zach has -- according to Dr. S, now does that mean Zach has mito - we don't know yet, but from how Dr Shoffner was talking I'll be really surprised if he doesn't. I'll write more about the appointment when we are home.Right now Doug is stuck with the kids in the room and I better make sure they are all okay.Thank you all so much for your prayers and support - it has helped us threw a very tough time. FYI we will have the results from Dr. Shoffner in 6-8 weeks and the report will come right to our home --- fingers crossed, more prayer, and all the positive thoughts you have for some answers, and for it to come quickly!
Thursday, February 18, 2010 8:38 PM, EST
We are home, safe and sound - catching up on rest. Sleeping in a hotel no matter how nice it is, is never a replacement for the comfortable warmth of home.We came home yesterday and picked up Otis. He was happy to see us and boy were we happy to see him. It amazes me how much animals really do help us humans with stress.Grandma and Pada came by for a welcomed visit. Both kids and puppy were happy to see them - we were too :) After they left we spent the day resting. Zach was in and out of pain and his irritability levels were super high. I'm happy night came quickly and both kids are sleeping peacefully.I think I'm about to follow suit....Night!
Friday, February 19, 2010 1:41 PM, EST
WOW is all I can say! My head is spinning from the e-mail we just recieved from Dr Shoffner's office.No real news to report - the tests aren't done. The e-mail was 9 pages of clinical notes from our appointment on Monday. I simply can't believe we got something so fast. Let's keep our fingers crossed the tests come quickly as well. I'm wondering what his little cells are doing right now.The e-mail has information on all the tests that are being ran 26 in all. It also tells us more detail about the things he is looking into finding:
Cerebral folate deficienciesMitochondrial DiseaseDisorders of creatine metabolismChildhood onset myotonic dystrophy *type 1It says that the tests will be back in 6-8 weeks or longer depending on rate of cell growth. The one thing that has me choked up is this information:Defects in oxidative phosphorylation can be associated with the features described above (this refers to in the conclusion of Zach's symptoms). It is important to consider the possibility that this patient could harbor a nuclear or mtDNA mutation that is related to the clinical presentation. MtDNA mutations can be sporadic or can be segregating at very low levels within other family members making distinctions between nuclear and mitochondrial mechanisms difficult. I am by no means a doctor but I feel, just as I felt in the appoinment, that Dr S will find Mito. I just hope we don't hve to go further with this and all be tested at some point.
Saturday, February 20, 2010 9:21 AM, EST
Zach was up 2 times last night with issues BUT no screams or tears, that was the nice part. Now if only we knew what was causing these sleep disturbances - so we could all rest.His leg seems to be doing well. He hasn't used any pain medication since Thursday :) Zach is still limping and I'm noticing him turning in his feet (a lot) if it doesn't stop I will talk with the doctor this week and also his therapists. He has had issues with turning in of the feet all along but it comes and goes so nothing has ever been done about it. I don't know if it is happening more now because of his surgery or not.
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