Can you see that black line across the sky? Weird weather phenomenon. The weather guys at the Fox4 have never seen anything like it. Weird. I have a video too, but can't get it to load.
It's Leap Day, which reminded me that it is the last day of February. So, I am sliding in sideways with my 2nd post of 2012.
Lots of updates in February. I have shared some of them with some people but probably not all of them with anyone:)
Genetics Clinic appointment - I wrote the following the day after the appointment, so I will just paste it in here.
2-13-12
Today was the scheduled day to meet with the CMH Genetics Clinic. I didn’t really want to go, but I had already rescheduled this appointment once. Eli wasn’t feeling well, but seems to be OK for the trip to KC. Scott was available to go and might not be available later as he starts his new job next week. So, we went.
Let’s back up a few years. In 2006, Dr. Hoffman, the developmental pediatrician, was the first to suggest genetic testing. I remember feeling ill just thinking about it. Having our child poked and prodded was not what we wanted to do. We were fairly certain that it wouldn’t change our therapies or treatments. I wasn’t at peace. So, we just put it on the back burner.
Fast forward to 2010, through events outlined in my blog in December 2010, we decided to proceed with the genetic tests. In late November (the day after Thanksgiving) Blake and I took Eli for the blood draw. It was no big deal. By December, we had the results: Pitt Hopkins Syndrome. Now, know that the basic DNA test showed NO ABNORMALITIES. It was the Microarray test that determined Eli’s partial deletion of chromosome 18, specifically section 21.2. Get this…the Microarray test wasn’t developed until 2007. So that ‘lack of peace’…I believe that was God saying, “wait”. We were offered the opportunity to have the same tests done on Scott and I; both of our tests came back as normal.
July 2011, we are scheduled to go to the Genetics Clinic at CMH. It was summer, there was a lot of activities going on, it was a busy time AND I didn’t want to go to the appointment. So, I called to cancel. I asked to be rescheduled for November. They told me that they would have to call me back, that a new geneticist was coming to take new patients, so we would have to wait until they had her schedule. They called me back in December, we scheduled for February 13, 2012.
Now we are back to today!
As mentioned, Eli wasn’t feeling well. We made our way into CMH South, up the elevator to the Genetics Clinic, registered and Eli started watching the big TV with a Disney program showing. I went to the bathroom and I prayed. You see it snowed last night, so with the hurrying out the door and driving in unfavorable conditions and the talk radio program playing, I hadn’t prayed. I prayed that we wouldn’t be wasting our time coming to this appointment. That the Lord knew my heart and my uneasiness about this appointment. To take any worry or anxiety from me. He is SO GOOD to answer our prayers according to our needs!!!
We were called to go back to an exam room. She was going to weigh Eli, but asked us to remove his shoes. Well, Eli has braces, so that isn’t as easy a request as one might think. I asked if we could put our things down to then sit and take his shoes off. Scott sat Eli on a chair and he gagged. Now, Eli has been sick, so we were already on guard. But really, this is Eli’s signal for “I am uncomfortable with this situation.” He was nervously walking around the room, down the hall, etc. We tried to go back to the room a few more times, but he just kept gagging. So, Scott and Eli went back to the waiting area and watched TV.
The first gal came out to see us in the waiting room. Her name is Holly Welsh. She said she could just meet with me while Scott and Eli watch TV. She left for a bit, but then motioned for me to join her in the exam room. We started talking and she asked me to tell her how we ended up in the genetics clinic. I just started giving her the high level overview of our journey with Eli. Along the way I mentioned that I believe things happen for a very specific purpose and that they happen when they should happen. I went on to complete my outline. She asked a few questions, then said, “you know how you said you think things happen for a specific purpose?” I said, “Yes?” She went on to say that Dr. Holly Ardinger is not only a renowned geneticist, but that she was recently asked to write the official documentation for Pitt Hopkins Syndrome on http://www.genereviews.org/. WOW!!!
You see, this is HUGE!! Eli is 1 of 112 officially diagnosed cases of PTHS in the WORLD...so, he is 1 of 112 in 7 BILLION people. The fact that they even have a name for it is a miracle, but that we met with a geneticist who could not only discuss the test results, but who could speak specifically to THIS syndrome. She had only met 2 children with PTHS in her entire career. Meeting Eli at this very moment in time was nothing short of a miracle...really! This is additional confirmation that we are exactly where we are supposed to be!!
SOOOO…THANK YOU JESUS!!! I am so grateful to be part of this great orchestrated work. So grateful to ‘listen’ when you speak…even when I don’t acknowledge that it is you speaking to me. I know Your voice. I hear when you speak. You know it when you know...and I know it!!
And if that wasn't enough, on 2/17/12 we (Scott and I as well as a whole room full of Team Eli folks and Eli) met with Bob and Jane from the KS School for the Blind. They have come to meet with Eli several times and evaluated his vision from a functional and processing perspective. We know Eli can see, though he has no depth perception and is near sighted, but the reason for their involvement is to evaluate to determine if he is eligible from additional services from their organization. He is! Eli is in the 'official' registry as 'legally blind'. I don't think one is normally elated by a title like this, but from my perspective, any additional services provided to Eli that don't require additional capitol outlay from us...that is a good thing!! I really don't know yet what additional services Eli will receive, but the initial support alone has been helpful. Any group whose focus is to help people become as independent as possible, is welcome to join Team Eli!
Let's see...what else?? Oh, Scott started a wonderful new job with a company in Lawrence. Only 15-20 minutes drive and he comes home to have dinner every night...even on rugby practice nights!! He's happy, they are happy, PRAISE GOD!!!
Blake's team finished up basketball season a few weeks ago. It was a rough start, well, rough middle really, but they won 4 of their last 5 games. So, all's well that ends well! He played very well, especially since he hasn't played basketball since he was 6. He loved it and is now going to also run track. Football, Basketball, Track and Swimming (2 more sessions to be qualified to apply to be a lifeguard)...he gets all that from Scott:) When I get the basketball videos off my phone I will post them.
The boys and I are heading to Bonita Springs FL for a fun filled 7 days in the sun and surf...well, with the exception of travel days...so really only 5 days...but who cares, 5 days in the sun and surf!!!! Scott's folks are living there this winter and we get to benefit! Seeing dolphins, collecting shells, eating seafood, going to the zoo and if Blake reaches his goal at school, deep sea fishing, too!
I think I am finally posting my last 'lesson' from the message delivered in May 2007. Here it is:
6) PRAY FIRST!!!! Don’t freak out first. Pray first! This one is the latest addition to the list and I am still learning it. Learn it with me. Pray first! When you do something you shouldn’t do…pray first. When things don’t go as you planned…pray first! When something unexpected happens, good or bad…pray first before you take another step.
This scripture reference has become my mantra. I repeat over and over to myself and to anyone who tells me their worries.
Philippians 4
6Do not be anxious about anything, but in everything, by prayer and petition, with thanksgiving, present your requests to God.
Do not be anxious about anything (nothing, not one thing!) but in everything (all things, big and small) by prayer (we know about prayer) and petition (over and over) with thanksgiving (oh…this is a big one…we have to be thankful to the Lord even for things we don’t like or want…remember, He wants us closer to HIM) present your requests to God.
Until March...take care! Let it SPRING!!!
Lots of updates in February. I have shared some of them with some people but probably not all of them with anyone:)
Genetics Clinic appointment - I wrote the following the day after the appointment, so I will just paste it in here.
2-13-12
Today was the scheduled day to meet with the CMH Genetics Clinic. I didn’t really want to go, but I had already rescheduled this appointment once. Eli wasn’t feeling well, but seems to be OK for the trip to KC. Scott was available to go and might not be available later as he starts his new job next week. So, we went.
Let’s back up a few years. In 2006, Dr. Hoffman, the developmental pediatrician, was the first to suggest genetic testing. I remember feeling ill just thinking about it. Having our child poked and prodded was not what we wanted to do. We were fairly certain that it wouldn’t change our therapies or treatments. I wasn’t at peace. So, we just put it on the back burner.
Fast forward to 2010, through events outlined in my blog in December 2010, we decided to proceed with the genetic tests. In late November (the day after Thanksgiving) Blake and I took Eli for the blood draw. It was no big deal. By December, we had the results: Pitt Hopkins Syndrome. Now, know that the basic DNA test showed NO ABNORMALITIES. It was the Microarray test that determined Eli’s partial deletion of chromosome 18, specifically section 21.2. Get this…the Microarray test wasn’t developed until 2007. So that ‘lack of peace’…I believe that was God saying, “wait”. We were offered the opportunity to have the same tests done on Scott and I; both of our tests came back as normal.
July 2011, we are scheduled to go to the Genetics Clinic at CMH. It was summer, there was a lot of activities going on, it was a busy time AND I didn’t want to go to the appointment. So, I called to cancel. I asked to be rescheduled for November. They told me that they would have to call me back, that a new geneticist was coming to take new patients, so we would have to wait until they had her schedule. They called me back in December, we scheduled for February 13, 2012.
Now we are back to today!
As mentioned, Eli wasn’t feeling well. We made our way into CMH South, up the elevator to the Genetics Clinic, registered and Eli started watching the big TV with a Disney program showing. I went to the bathroom and I prayed. You see it snowed last night, so with the hurrying out the door and driving in unfavorable conditions and the talk radio program playing, I hadn’t prayed. I prayed that we wouldn’t be wasting our time coming to this appointment. That the Lord knew my heart and my uneasiness about this appointment. To take any worry or anxiety from me. He is SO GOOD to answer our prayers according to our needs!!!
We were called to go back to an exam room. She was going to weigh Eli, but asked us to remove his shoes. Well, Eli has braces, so that isn’t as easy a request as one might think. I asked if we could put our things down to then sit and take his shoes off. Scott sat Eli on a chair and he gagged. Now, Eli has been sick, so we were already on guard. But really, this is Eli’s signal for “I am uncomfortable with this situation.” He was nervously walking around the room, down the hall, etc. We tried to go back to the room a few more times, but he just kept gagging. So, Scott and Eli went back to the waiting area and watched TV.
The first gal came out to see us in the waiting room. Her name is Holly Welsh. She said she could just meet with me while Scott and Eli watch TV. She left for a bit, but then motioned for me to join her in the exam room. We started talking and she asked me to tell her how we ended up in the genetics clinic. I just started giving her the high level overview of our journey with Eli. Along the way I mentioned that I believe things happen for a very specific purpose and that they happen when they should happen. I went on to complete my outline. She asked a few questions, then said, “you know how you said you think things happen for a specific purpose?” I said, “Yes?” She went on to say that Dr. Holly Ardinger is not only a renowned geneticist, but that she was recently asked to write the official documentation for Pitt Hopkins Syndrome on http://www.genereviews.org/. WOW!!!
You see, this is HUGE!! Eli is 1 of 112 officially diagnosed cases of PTHS in the WORLD...so, he is 1 of 112 in 7 BILLION people. The fact that they even have a name for it is a miracle, but that we met with a geneticist who could not only discuss the test results, but who could speak specifically to THIS syndrome. She had only met 2 children with PTHS in her entire career. Meeting Eli at this very moment in time was nothing short of a miracle...really! This is additional confirmation that we are exactly where we are supposed to be!!
SOOOO…THANK YOU JESUS!!! I am so grateful to be part of this great orchestrated work. So grateful to ‘listen’ when you speak…even when I don’t acknowledge that it is you speaking to me. I know Your voice. I hear when you speak. You know it when you know...and I know it!!
And if that wasn't enough, on 2/17/12 we (Scott and I as well as a whole room full of Team Eli folks and Eli) met with Bob and Jane from the KS School for the Blind. They have come to meet with Eli several times and evaluated his vision from a functional and processing perspective. We know Eli can see, though he has no depth perception and is near sighted, but the reason for their involvement is to evaluate to determine if he is eligible from additional services from their organization. He is! Eli is in the 'official' registry as 'legally blind'. I don't think one is normally elated by a title like this, but from my perspective, any additional services provided to Eli that don't require additional capitol outlay from us...that is a good thing!! I really don't know yet what additional services Eli will receive, but the initial support alone has been helpful. Any group whose focus is to help people become as independent as possible, is welcome to join Team Eli!
Let's see...what else?? Oh, Scott started a wonderful new job with a company in Lawrence. Only 15-20 minutes drive and he comes home to have dinner every night...even on rugby practice nights!! He's happy, they are happy, PRAISE GOD!!!
Blake's team finished up basketball season a few weeks ago. It was a rough start, well, rough middle really, but they won 4 of their last 5 games. So, all's well that ends well! He played very well, especially since he hasn't played basketball since he was 6. He loved it and is now going to also run track. Football, Basketball, Track and Swimming (2 more sessions to be qualified to apply to be a lifeguard)...he gets all that from Scott:) When I get the basketball videos off my phone I will post them.
The boys and I are heading to Bonita Springs FL for a fun filled 7 days in the sun and surf...well, with the exception of travel days...so really only 5 days...but who cares, 5 days in the sun and surf!!!! Scott's folks are living there this winter and we get to benefit! Seeing dolphins, collecting shells, eating seafood, going to the zoo and if Blake reaches his goal at school, deep sea fishing, too!
I think I am finally posting my last 'lesson' from the message delivered in May 2007. Here it is:
6) PRAY FIRST!!!! Don’t freak out first. Pray first! This one is the latest addition to the list and I am still learning it. Learn it with me. Pray first! When you do something you shouldn’t do…pray first. When things don’t go as you planned…pray first! When something unexpected happens, good or bad…pray first before you take another step.
This scripture reference has become my mantra. I repeat over and over to myself and to anyone who tells me their worries.
Philippians 4
6Do not be anxious about anything, but in everything, by prayer and petition, with thanksgiving, present your requests to God.
Do not be anxious about anything (nothing, not one thing!) but in everything (all things, big and small) by prayer (we know about prayer) and petition (over and over) with thanksgiving (oh…this is a big one…we have to be thankful to the Lord even for things we don’t like or want…remember, He wants us closer to HIM) present your requests to God.
Until March...take care! Let it SPRING!!!
