Calm

Things have been calm the past week. No issues to report except for Nate getting sassy! He is saying the funniest things lately. He sounds so grown up. I love my family.

Done

I called at 8am this morning and the neurologist still had an open 9:30am new patient spot. We took it! The doctor was very nice and informative. He was kind to Nate and that was nice. We went back for an EEG this afternoon. The doctor basically said he really thinks Nate had a vasovagal response. You can read about that HERE. We will know for sure tomorrow I guess when we get the results of the EEG.

IF that IS what it was I want to make SURE his heart is indeed ok. I would like to get another EKG and ECHO to double check.

Neuro and Voicemail!

Ugh. I am the WORST about checking voicemail. I dont do it. Hardly EVER! Well, I called the neurologist office on Friday morning and asked if we could be put on a cancellation list so we dont have to wait a month to see him. The lady told me I could but it was quite long and we probably wouldnt be called. 


2:16pm-missed call. "I dont know that number"


2:45pm-Im out of work and notice I have a new voicemail. "Eh, I dont need to check it"


Fast Forward to Saturday afternoon when I decided that I better check my voicemail. 


That same lady had called saying they had a cancellation for MONDAY and if I wanted it I needed to call her back! UGH! And of COURSE they were closed. I am calling FIRST THING Monday morning hoping to get in!

Blink Of An Eye

Yesterday we heard the news of a friend of ours grandbaby having a cancerous tumor in her abdomen. Praying for their sweet baby girl (13 months). Praying for COMPLETE healing from this cancer. 


Thankful today for my kids who are healthy. These things Nate deals with are indeed VERY REAL but so thankful he doesnt have anything much worse. Like nasty ole cancer. Such a HORRIBLE HORRIBLE disease. 


Please pray for sweet Kamryn.

Pieces of Nate

There are many pieces to Nate. It is as if his little body is a big puzzle and the doctors have been piecing him together for the last 6 years. I tell you what, I will be SO glad when and if someone puts him together!


I was just reading about seizures and auditory processing disorder which Nate is thought to have. He didnt "fail" the test at 5 years ...almost 6 but they said he needed to be retested at 7 because he was actually too young. Frustrating? Why yes. :)


Who knows really....hopefully the neurologist will be able to put a few pieces into the puzzle of Nate. Until then. Enjoy this sweet smile.

Trusting

I realize that in the grand scheme of things I have NOTHING to complain about. Many, many parents have it so much worse. Many children are sick and will lose their lives to their nasty illness. BUT, that does NOT mean that I have no right. Or that Nate who is the one who has these things going on in his body doesn't get to hate it.


He is a trooper. He NEVER complains. He was born with XLI and has horrible skin. In the summer it looks great and feels pretty good but the rest of the year it hurts. It pulls and stretches and hurts him. He doesn't sweat well and overheats very easily. He itches most of the time. Yet, he doesn't complain. If only I could learn a lesson from him. My sweet, sweet boy.


Tuesday night he had an "episode". I assume it was a seizure but I guess Im not 100% sure. I had just pulled his first tooth. He was SO excited. He got a funny look on his face and I asked what was wrong. He was kinda out of it. He said "I have a headache" and layed down on the bed and that is when his eyes rolled back and he made floppy type movements with his arms and legs. To be honest, I was SO freaked out when I saw his eyes roll back and his face that I didn't pay a whole lot of attention to the rest of his body. I immediately thought he was going to be gone. I know I shouldn't think that but I did. 911 was called and we went to the ER where they did a CT and blood work and everything looked fine. His pupils were dilated but his vitals were good and he could answer questions even while in a very strange state.


You see. Every time something like this happens to my sweet Nate I flip out.  I feel like we are living on borrowed time and each time something happens I think "this is it, I'm going to lose him".


The truth is that we are ALL living on borrowed time. He isn't "mine". He is Gods. I am being allowed to raise him up and love him but he isn't mine. Letting go and trusting with my children is the hardest thing I have to do. I fail miserably at it. But HE is trustWORTHY.

ADHD

There are some interesting studies that show that boys with XLI are at an increased risk of ADHD particularly with inattentive subtype. Check out this checklist...my Nate gets ALL check marks!


I found an article some time ago that suggested that IF your child with XLI has this type of ADHD then the meds out there wont work the same as if your child has ADHD from another cause..didnt realize that. Interesting.

F.I.R.S.T.

F.I.R.S.T. (Foundation for Ichthyosis and related skin types) is a great organization who is trying desperately to spread the word about Ichthyosis. Their goal as stated by them...

"Our mission is to educate, inspire, and connect those touched by ichthyosis and related disorders through emotional support, information, advocacy, and research funding for better treatments and eventual cures."

I plan to become an ambassador for them and create awareness for this rare condition. Help me spread the word by sharing this blog with others.

You can visit F.I.R.S.T. by clicking HERE and learn more about what they are doing to make this world a better place for our children!

Hell..or as I like to call it...the Government

We are stunned. Really stunned. We have had Childrens Health Insurance through our state-the great state of Texas for years. We are now over the income limits for that plan. But, we #1 canNOT afford private health insurance and B.) Mr. Hubs health insurance at work STINKS!

So..ok...surely there is SOMETHING for children with special needs...SURELY...I call CHIP....nope." Call Medicaid..there is something they can do"...Nope..."call CHIP they CAN help they just arent wanting to help you"...Nope...basically we are out of luck. We have one option that we can find and it is not what we were hoping for...

There is something seriously wrong in America folks! I am all for helping other people..people who arent citizens even..and yes, you bet your bottom dollar they help non citizens..but when my husband and I are Americans..and he works hard and makes a decent wage...we are left out in the cold. Where exactly do they expect a middle class family of 5 to come up with an extra $600 a month JUST for the premium for health insurance..not to mention the $2000 per person deductible and co-pays. For real??! Where am I supposed to pull that from?? You have GOT to be KIDDING me??!! But guess what...NOPE. This is NO JOKE.

Lets start at the very beginning...a very good place to start.

In case you didnt catch that title it is one of the songs in the Sound Of Music--but that is neither here nor there. ;)

I am Amy. Mom to 3 kids and wife to 1 man. Good thing, huh?
My youngest child Nate was born with X-Linked Ichthyosis..XLI for short.


X-linked ichthyosis (XLI) (also known as "Steroid sulfatase deficiency, is a skin condition caused by the hereditary deficiency of the steroid sulfatase (STS) enzyme that affects 1 in 2000 to 1 in 6000 males. XLI manifests with dry, scaly skin and is due to deletions or mutations in the STS gene.

Basically, his skin sheds and sticks..causing plaques of skin to build up. Im a carrier of the mutated gene..my birth father had the disease..my daughter has a 50% chance (as I understand it) of being a carrier and my boys each had a 50% chance of having the disease.

When Nate was born I showed our Pedi who passed it off as newborn skin. After 4 weeks he finally admitted that there was something else wrong. Our Pedi was AMAZING...he KNEW what Ichthyosis was! That is saying something, let me just tell you!
We went to an adult derm because there wasnt one for children that took our insurance. He said that indeed it was a type of Ichthyosis but he wasnt sure which type. There were some creams we could try but they could have serious side effects. We left it at that.

Fast forward 5 years and we come to Summer 2011. Nate passes out..leaving us terrified. This happens ONE FULL TIME and then several other times it nearly happened..leaving him lethargic and out of it with over 103 fever each time. Now, it is time to do something..after finding on google that overheating was a big issue for these children..its time to dig deeper.

We go to a pedi derm FINALLY in Dallas at Childrens Hospital. She wants him to go to a Urologist, Opthamologist, ENT, Geneticist, etc. We do the geneticist first. His type of Ichthyosis is confirmed as XLI.

More to come.....