Looks like testing might finally happen!

[Katie]

You all may remember a few months back we were trying to get testing for Saethre -Chotzen Syndrome approved through our insurance. The insurance would cover the procedure code, but the problem was that no lab in Michigan performs the test. This means that sending the bloodwork out of state would be out of network, so it wouldn't be covered. Dillon has Medicaid as secondary insurance who covers what our primary won't, but since our primary would technicly cover the test if it was in state, Medicaid won't (Does this make any sense at all? :giggle). So, we figured the testing would have to wait until we had $700 laying around.

Today when I took Dillon to physical therapy at Early On, a social worker came in to talk to me. Dillons physical therapist was aware of the situation and had talked to the social worker to see if there was any way to help get the testing. :adore Turns out EO has what is called a Gap Fund. It's to help out in situations like this. The social worker wrote up a letter requesting the funds to cover the testing right then and there! She said she thinks they will most likely approve it and we should know by the end of the week :woohoo Even if the request isn't approved, it is wonderful that they even offer a program like that.

[Jenny]

Thats cool! I wonder if they could do the same for us!

[Jennifer]

That's awesome! Hopefully all goes through!

[KALEMSMOM]

Woohoo is right, that's awesome. I have my toes and fingers crossed that you get approved.

[Rhonda O]

That is great, Katie!!! I'll keep my fingers crossed. Let us know when you hear anything.

[Andi]

Yay, that's awesome!

I'm posting in a new thread about my SCS DNA testing, perhaps where we're getting it done would be a good place. Let me know if you want more info.

[EtMom]

I didn't know you could have medicaid as secondary insurance. That is interesting. It could be a good back up for everyone who quailfies

[melsch]

Katie that's wonderful news! How great that they offer such asistance. I'll keep my fingers crossed for you!

[Christina's_Mommy]

yea!!! At least you were able to get wiggled out of that loophole. Insurance many times are a load of crock and Medicaid has alot of cracks also. Keep us posted!!

[Janet]

Good Luck Katie!!! Keep us posted.

[Katie]

I actually wrote this post two years ago :giggle They did get the grant approved, and we had one test performed. there are several tests that can be performed, and the one Dillon had only had a 60ish% sensetivity rate (meaning, with this test 40% of SCS cases come back with a false negative). It came back negative, but his genetecist still feels strongly that it is SCS. At some point when financially possible, we'll get other testing performed.
thanks for the well wishes you all :adore

[Janet]

Lol!!!!

[Satori]

I actually wrote this post two years ago :giggle They did get the grant approved, and we had one test performed. there are several tests that can be performed, and the one Dillon had only had a 60ish% sensetivity rate (meaning, with this test 40% of SCS cases come back with a false negative). It came back negative, but his genetecist still feels strongly that it is SCS. At some point when financially possible, we'll get other testing performed.
thanks for the well wishes you all :adore


There's a test study there running on the MSX2 gene for SCS as there finding many children who are neg on the FISH and Microarray are coming back positive for a mutation or deletion on MSX2. Since its a study you may be able to get the testing done for free. Greenwood Genetics is doing it, can't hurt to check it out:) I was wondering something and feel free to tell me to mind but my biz but its something I struggle with. I see your prego again (Congrats btw!) How did you overcome that 50/50 risks? Was it just something your willing to take or do you know who the carrier is and used other genetic material? I would love 1 more child but to me the risk seems to serious to take, like I'm intentionally creating and bringing a disabled child into the world. Lilly has so many problems already, I feel like I'm being selfish by inflicting this on another child with even thoughts of having another one. Any wisdom you found helpful in the decision to have another?

Also, how is Dillon doing? You haven't updated your blog in like a year, to me it was wonderful to see him progressing (my 1st child had a severe speech delay) and it gave me a peak into what might be possible for Lilly in a few years. She's 19 months and just started saying words but its only the first syllable but its enough to understand, like if she see's a bird she will say "br" and dog is "da". (this is already way more then my older dd said, she didn't even say "mama" until she was past 2 and didn't talk until around 3 if I remember right) We just moved and are getting services started here and are waiting for another developmental assessment to see where's she's at now but over all but she had severe delays due to hypotonia due to a mito problem and once we figured that out she went from sitting with assistance to running in about a month.:icon_mrgr I think as far as the SCS the only thing we really have to worry about is her eyes, which btw how are Dillon's eyes? Lilly has Macular Hypoplasia and we wondered if it was due to the ptosis or part of the syndrome. Sorry so many questions, there's just so few SCS families to compare notes with. You see one and want to hug them then ask a million questions comparing notes lol:)

[Katie]

There's a test study there running on the MSX2 gene for SCS as there finding many children who are neg on the FISH and Microarray are coming back positive for a mutation or deletion on MSX2. Since its a study you may be able to get the testing done for free. Greenwood Genetics is doing it, can't hurt to check it out:) I was wondering something and feel free to tell me to mind but my biz but its something I struggle with. I see your prego again (Congrats btw!) How did you overcome that 50/50 risks? Was it just something your willing to take or do you know who the carrier is and used other genetic material? I would love 1 more child but to me the risk seems to serious to take, like I'm intentionally creating and bringing a disabled child into the world. Lilly has so many problems already, I feel like I'm being selfish by inflicting this on another child with even thoughts of having another one. Any wisdom you found helpful in the decision to have another?

Also, how is Dillon doing? You haven't updated your blog in like a year, to me it was wonderful to see him progressing (my 1st child had a severe speech delay) and it gave me a peak into what might be possible for Lilly in a few years. She's 19 months and just started saying words but its only the first syllable but its enough to understand, like if she see's a bird she will say "br" and dog is "da". (this is already way more then my older dd said, she didn't even say "mama" until she was past 2 and didn't talk until around 3 if I remember right) We just moved and are getting services started here and are waiting for another developmental assessment to see where's she's at now but over all but she had severe delays due to hypotonia due to a mito problem and once we figured that out she went from sitting with assistance to running in about a month.:icon_mrgr I think as far as the SCS the only thing we really have to worry about is her eyes, which btw how are Dillon's eyes? Lilly has Macular Hypoplasia and we wondered if it was due to the ptosis or part of the syndrome. Sorry so many questions, there's just so few SCS families to compare notes with. You see one and want to hug them then ask a million questions comparing notes lol:)

Thanks for the info on testing, I'll have to check it out! As far as the 50/50 odds, well that decision was made for us. It took us a very long time to have Dillon, with every fertility drug under the sun involved. I wasn't supposed to be able to get pregnant again without all that, and then surprise! A surprise miracle baby :adore I've struggled from the start knowing that this little guy may have to go through what his big brother has, but at the same time, I take comfort in knowing it's a treatable condition that rarely leads to life long disabilities. Dillon's auntie Jenny is a cranio adult and no one would know, I don't think, if she didn't tell them. His cousin Mikayla is doing very well, and the genetecist even said Doug may have had a very mild undignoased case of it himself. He was in his mid 30's when the Dr. said that, and never had any concerns during his life because of it. So, I can understand the struggle to make the decision about more children, but if you do decide to have more, just know that the chances of your baby going on to live a perfectly functional life weather or not he/she has SCS are very high :hugg

I do need to update Dillon's journal, don't I :blush I'll se if I have a few to post in it today.

[Jenny]

Hi satori,
This is Dillon's aunt, Jenny. I was just reading your post to Katie, and I wanted to share that I've had some of the same concerns. As katie posted, I'm also a cranio adult. My daughter mikayla, is a craniokid, and we are both bicoronal. Other than that, we both have astigmatisms, and have had the ear tubes. I just wanted to share that i've had the same concerns of having another child. I battled it for what seems like forever, and what I came up with is that it will happen if its meant to be. It's in God's hands, and whatever He gives me, will only make me stronger. I'm not what you would call highly spiritual,but I do believe in Him. And another consideration is that I would still be bringing into the world a perfectly normal child, not one that's debilitated. It isn't something that can't be "fixed". Besides, i had 50/50 odds. Anyway, long story short, we decided to have another baby. We had another baby girl, cranio free! Perfectly normal. I don't know if this helps any, but all my life, I was told by other people that I shouldn't have kids. My children are a blessing to me, and Mikayla is my little gift. She's tought me so much about life than so many people would ever learn. And she is perfect to me in every way (i'm not opinionated am i?). But really, she is a normal healthy little girl, and no one would ever tell the difference.

[Holly]

I dont know much about SCS but i know these cranio babies are fixable. I dont think its selfish to try and have another child knowing it could have cranio, a syndrome or anything else. They can still have wonderful lives. I have a step-uncle with down syndrome and he is one of the life loving happiest people i know. If my husband would let me I wouldn't mind having one more baby.
Katie-I did notice the other day that it looked like you were getting close to having your baby thats so exciting. I hope Dillon will like being a big brother.