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#26210 - 04/17/10 03:55 AM So many questions
emb Offline
New member

Registered: 04/17/10
Posts: 1
I have a 1 month grandaughter born as a collodion baby. We did not even know such a condition existed. Needless to say, we have learned a lot in the past 4 weeks and have had consults with several specialists at the Mayo clinic. We have been told she has icth,most likely either CIE or lamellar and genetic testing is highly recommended. We have been told that we need to contact insurance to find out if it is covered. Does anyone have advice or suggestions on the best way to deal with insurance on getting the testing covered.

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#26226 - 04/18/10 11:32 PM Re: So many questions [Re: emb]
EmberSparks Offline
Member

Registered: 03/15/09
Posts: 60
I would get the procedure code & then call insurance to see if it is covered, if you have to get prior approval, or what the appeals process is if it isn't covered. IMHO I am not sure it is terribly helpful to know what gene is affected unless parents or an affected individual to have the option of embryo selection; it doesn't change treatment in most cases. Good luck!
_________________________
3 year old (collodion baby/ARCI)

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#26394 - 05/26/10 12:02 AM Re: So many questions [Re: emb]
lexilove Offline
New member

Registered: 04/16/10
Posts: 4
Loc: Eureka, CA
We just went through this exact same process. Our daughter was recently diagnosed with lamellar ichthyosis after being born with the membrane. Our insurance did not cover the genetic test. I'm not sure what your doctors are telling you, but the test will not tell you anything other than whether or not your child inherited this from you and your husband. Our doctors told us that in 90% of the cases it is inherited, otherwise the gene mutated on its own. This test is really on significant if you're trying to have other kids. Then they will have a 1 in 4 chance of getting the disease. We opted not to have the test right now, because it is not going to change anything or give us any other information about her condition. We we're told the test would be about $1500. Hope this helps.
_________________________
My daughter was diagnosed with lamellar ichthyosis and we would appreciate any information that we can get.

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#27213 - 12/06/10 09:05 PM Re: So many questions [Re: lexilove]
SusieL Offline
Member

Registered: 10/17/03
Posts: 51
Loc: Raleigh, NC
You have probably already done the testing at this point, but for anyone else facing this question who may come along, when our son was born he was seen by a geneticist in the hospital when he was in the NICU. The geneticist told us he would submit the claim to the insurance company with the reason "to confirm the diagnosis." And insurance did cover it. The benefit of having the genetic test done is that when I was pregnant later with my youngest we were able to have an amniocentesis done and they knew exactly what gene mutation to look for. LI can be caused by several different gene mutations, so knowing which one we carried was helpful, I think. We did not test my oldest daughter to see if she's a carrier. We figured in her future when she is ready to have kids her husband can be tested. If he's positive then she can test to see if she has it. If he's negative (which will be more likely) there is no need for her to test as their children will be unaffected. Hope this helps! smile
_________________________
Susie

Daughter, Emma born 9/2001 -unaffected
Son, Andrej born 8/2003 - has Lamellar Ichthyosis
Daughter, Tori born 3/2006 - has Lamellar Ichthyosis

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#27220 - 12/09/10 08:39 PM Re: So many questions [Re: SusieL]
twinmum Offline
Member

Registered: 10/22/10
Posts: 42
Loc: NSW, Australia
I'm wondering if this condition ison the rise or am I just more aware of it or are more collodian babies surviving than would've been the case in the past?
Harry is almost 4months old now. Emb, my thoughts and heart go out to you and your family.
We spoke with a genetic counsellor who told us that genetic testing is expensive but if we wanted more kids or the results would change the outcome of treatment (which it wouldn't) then they could put us through on health department funding (this is in Australia though... so probably not helpful to you, i just feel the need for a bit of a ramble and a connect with other new LI parents/grandparents.)
but it's not to be.. i hear crying...

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#27242 - 12/16/10 06:32 AM Re: So many questions [Re: twinmum]
Hearsay Offline


Member

Registered: 01/16/04
Posts: 1449
Loc: Richmond, VA, USA
It is not on the rise. Collodian babies usually survive and have for the last 20-30 years or more. The rise of the internet means we are more aware of other affected families, but the birth rate of 1 in 250,000 has been pretty constant throughout any of the literature dating back to the 1970s.


Genetic testing is useful if you wish to be involved in research studies where they need people affected with a specific mutation, and for having future children, either amniocentesis testing after you're pregnant, or IVF/PGD treatment prior to becoming pregnant. Other than that, it doesn't really do anything for you.

With LI, there's a 50% chance that the unaffected kids are carriers, but then they have to marry the 1 in 500 people that are also carriers before it will show up again in descendants. That can take 4-5 generations.

For the affected kids, all the children are carriers, but would only have the disorder if the affected person married a carrier, and then half would be carriers with normal skin and the other half would have LI.
_________________________
Jennifer
Ichthyosis-en-Confetti Type 2
Husband, Nathan - 10, Elliot - 7, Oliver - 4, all affected.
I also have an unaffected daughter, age 8.


email: jennifer at confettiskin dot com
facebook - find me on "ichthyosis mommy spot" or "friends of ichthyosis"

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#27263 - 12/19/10 01:45 PM Re: So many questions [Re: Hearsay]
twinmum Offline
Member

Registered: 10/22/10
Posts: 42
Loc: NSW, Australia
Thanks Jennifer,interesting

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