They would know if there was an genetic deficiency with Alianah from the moment they were in the hospital as newborns.
I think genetic testing is one of the standard blood tests that are issued in the hospital, and she would know about any issues within 2 weeks of birth.
Did everyone here have their child geneticly testing at the birth of their child? We did. As I understand genetic testing started back in 2003 or something like that.
Re: Teen Mom 2: My Issue with the Leah/Genetic Story...
I honestly don't remember.
It may differ by state/hospital?
Hmm, I don't really know but I assume that there are many things that aren't tested for? Maybe something rare?
What kills me about it is that is seems to be taking sooooo long for them to get a diagnosis. I don't know if this is just the editing of the show, a sign of poor care, or just totally normal when dealing with something like this.
My heart really breaks to see what they are going through. I missed the episode last night, did they get the results of the MRI? I did see on the preview that she is now rolling over so that seems really promising.
Yes, there is a standard screen that they do on babies, however I think it only tests for a limited number of genetic abnormalities or syndromes like Phenylketonuria (PKU) Galactosemia, Thalasemia, There are novels full of other, very rare syndromes that they don't test for.
Now, in regards to Leah, I wish that the medical professionals that she sees would talk to her in a more simple fashion. I understand what they are taking about because I am a medical professional, but they have to remember that they are talking to a 17 year old. Granted, she only hears what she wants to hear...like about the eye thing where she got so upset. They need to not only talk to her as a parent, but also as a teenager.
it's a state by state thing. i know CA tests for that w/ a heel prick when they're born.
Not true. My son underwent genetic testing at 1mo old, and is going back for more bloodwork this summer (15mo) because of tainted results.
They might do an oversweep, but there are SO MANY genetic mutations out there, they would almost have to be looking for something specific to determine a lot of them...
I think its a lot of editing - although I am very surprised by the Dr she sees. I really hope she gets a second opinion, because if Bug's team of specialists ever seemed so disinterested I'd be filing major complaints and finding new doctors
I do know MRI results can take a week or two if its done outpatient. Bug's was an overnight stay because of his complications, and we had the results 3 days later. (Ali's results did come back normal, fyi).
Although it can be hospital too. Children's of DC couldn't get us in for 3 weeks after he was discharged from NICU - knowing what we know now, that would have been disastrous. Johns Hopkins got him in the next business day, and admitted him immediately after consultation with specialist.
Either way, I feel for her - it was hard enough for me at 24 with a husband and only one baby!
I'm not sure about the state of Indiana, however I do know ds had a ton of tests for the 5 weeks he spent in the nicu. I think they can only test a newborn for so much. Ds had a lot of issues with large motor skills and sensory issues, but there was no way to determine that was going to happen until he was older.
NJ tests for standard biochemical anomalies in newborns. https://www.nj.gov/health/fhs/nbs/disorders.shtml If your baby had shown any disorders than he would have had a more complex genetic screen.
Screening the complete genome of an individual does not exist in hospitals at the newborn screen. It is costly and time consuming. When a problem arises a child can opt to undergo screening to see what mutation has occurred. This might not even help since mutations can be novel and lead to no insight on the patients disorder.
This is my issue, too. The doctors, particularly Dr. Lubicky, are not very approachable with her and even seem a bit condescending. Leah mentioned to him in last night's episode that her daughter still doesn't bear any weight on her legs. Dr. Lubicky just shrugged her off and said, "Yeah, well she's only 8 months old, we certainly don't expect her to be walking!" Of course you wouldn't find anything odd with an 8 month old not walking, and it may even be normal (though rather delayed and rare) for some children to still not bear any weight on their legs at that age, but this particular child has several red flags at the same time regarding her development. His comment really rubbed me the wrong way. I hope she finds another doctor that is more in tune with his or her patients.
This bothered me too. You can CLEARLY see that something is wrong with her leg. Don't brush off the parents when they know that something is actually wrong with her.
Thanks for filling me in.
I hope everything is OK now with your LO. You are a strong mama to go through that at any age!
Hunter's Hope is an foundation started by the Kellys (as in Jim Kelly the football player). Their son died because they found out too late about his disorder. The mission of the foundation is to get all the states to do newborn screening for all the recommended items.
Here is a listing of states and the number of recommended screenings that are done.
not post related, but I L.O.V.E. me some mystery diagnosis. *sigh* one of the only things I truly miss since we gave up our cable...
ITA. That's what bothered me the most. I would have been irate if he was my childs doctor. Horrible bedside manner.
Go Phils!!
Jacob Alexander 7/23/09
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Jameson Adam 6/1/11
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There are over 900 genetic tests available in the US. The test that some states do in the hospital, is called PKU, it screens for metabolic disorders. Which are different than genetic tests. Genetic tests are for syndromes/disorders and aren't always covered by insurances, and they are usually expensive. Peyton was tested for a couple of disorders. It took close to a month to get results back.
Also the dr, is an orthopedist, i've said before we saw him at WVU & his manners suck. She needs to be seeing a neurologist. That being said, I have yet to watch last nights episode.
They screen for some things, but not all. Most of the newborn screenings are for things that have the potential to do serious harm if not immediately detected. My DD1 was diagnosed with alpha thalassemia after her newborn screening. We are lucky in that she only has 2 traits.
Thinks like PKU can have tragic endings if not caught early which is one of the reasons they started testing at birth.