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.
Wednesday, January 4, 2012
Monday, January 2, 2012
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!
"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.
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.....
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.....
Subscribe to:
Comments (Atom)