Re: Re: Confusing Genetics

[Guest guest]

,

First please take anything I say with a grain of salt as I am by no means an expert ... but ... I think one thing that is important to remember with genetic testing is that, scientifically speaking, many of the tests for the more "rare" or uncommon disorders have huge margins of error and therefore the accuracy is just not always there. For example, my daughter has been diagnosed with Incontinentia Pigmenti. There is only one lab in the county that will run the genetic test which alone makes it financially questionable to pursue. We've have 3 different doctors including the geneticist concur on the diagnosis but the geneticist told us NOT to pursue the genetic test because its accuracy was too questionable and whatever the results it would not change her diagnosis. Now, she did recommend to follow the research and realize that all of my girls were potential carriers. While genetic testing at this point was not worth pursuing it would possibly be in the future as science is always improving and it was information my other daughters might benefit from since the disorder is fatal in boys and can be extremely debilitating in girls depending upon when the 2nd X-chromosome shuts down during development. My husband and I have lost several babies and it wasn't until this diagnosis for my daughter that we (the OBs, my husband and myself) were able to realize what was happening in my pregnancies.

So, I guess what I'm trying to say is that I know it's frustrating and my thoughts and prayers are with you and your family but genetic testing isn't perfect and if many of the symptoms point to a disorder that that genetic test says is negative, well maybe the symptoms are of more value than the test.

Becky

mom to , holding at <20*, started at 60*

also mom to , , Hannah and

> > >> > Hey Everyone, > > > > We are still looking for answers into why my son Thaddeus is not yet walking at almost 3 ( he will be 3 in Jan) We have re-looked throught all the results for all the testing he has gone through and still no answers. > > Beals Syndrome test = Negative> > Chromosome Testing = 100% normal> > Enzime Test = Normal. > > > > Its very frustrating to get all these great results on test but obviously there is something going on because he is not walking. We are waiting to get in to see the nurologist but that wont be till about Mar i think. I dont think they will have any answers eaither so is it a Fluke or what. Thaddeus had Joint contractures when he was born 8 weeks early. all of them have now resolved and we are just dealing with walking and Scoliosis. We are planing to Add to our family but my hubby would like to atleast have a idea what to expect with #2. > > > > Does anyone have anything similar going on with thier child???> > > > > > Thanks> > > > Mommy to Thaddeus> >>

[Guest guest]

Hmmm that's an interesting idea. Proprioceptive issues are neurologically based

and scoliosis is to (according to TSRH research)

T

Sent from my iPhone

On Oct 28, 2011, at 2:52 PM, " audreymdawson " <audreymdawson@...> wrote:

,

My daughter will be four in Jan and just started crawling; however, she does

have a lot of medical issues, including a partial chromosome deletion. Her

initial genetics test was normal, but after the scoli diaganosis she had a CGH

Array which revealed the chromosome disorder. Has your son had that particular

test?

mom to Audrey, casts and brace from SLC

Hey Everyone,

We are still looking for answers into why my son Thaddeus is not yet walking at

almost 3 ( he will be 3 in Jan) We have re-looked throught all the results for

all the testing he has gone through and still no answers.

Beals Syndrome test = Negative

Chromosome Testing = 100% normal

Enzime Test = Normal.

Its very frustrating to get all these great results on test but obviously there

is something going on because he is not walking. We are waiting to get in to see

the nurologist but that wont be till about Mar i think. I dont think they will

have any answers eaither so is it a Fluke or what. Thaddeus had Joint

contractures when he was born 8 weeks early. all of them have now resolved and

we are just dealing with walking and Scoliosis. We are planing to Add to our

family but my hubby would like to atleast have a idea what to expect with #2.

Does anyone have anything similar going on with thier child???

Thanks

Mommy to Thaddeus

------------------------------------

[Guest guest]

Louise that would be greatOn 2011-10-29, at 9:43 PM, "louiseb_26" <louise@...> wrote:

Hi ,

I have been in contact with someone from the Beals blog, who said that Dr Beals gave her child a clinical diagnosis of Beals Syndrome even though the test was negative.

I can get her email address to you if you want...

Louise

> >

> > Hey Everyone,

> >

> > We are still looking for answers into why my son Thaddeus is not yet walking at almost 3 ( he will be 3 in Jan) We have re-looked throught all the results for all the testing he has gone through and still no answers.

> > Beals Syndrome test = Negative

> > Chromosome Testing = 100% normal

> > Enzime Test = Normal.

> >

> > Its very frustrating to get all these great results on test but obviously there is something going on because he is not walking. We are waiting to get in to see the nurologist but that wont be till about Mar i think. I dont think they will have any answers eaither so is it a Fluke or what. Thaddeus had Joint contractures when he was born 8 weeks early. all of them have now resolved and we are just dealing with walking and Scoliosis. We are planing to Add to our family but my hubby would like to atleast have a idea what to expect with #2.

> >

> > Does anyone have anything similar going on with thier child???

> >

> >

> > Thanks

> >

> > Mommy to Thaddeus

> >

>

[Guest guest]

Many children w sotos dx also have clinical diagnosis when testing results don't show anything. My son has a mutation within the NSD1 strand.Sent from my iPhoneOn Oct 30, 2011, at 4:09 PM, candice_welch85@... wrote:

Louise that would be greatOn 2011-10-29, at 9:43 PM, "louiseb_26" <louise@...> wrote:

Hi ,

I have been in contact with someone from the Beals blog, who said that Dr Beals gave her child a clinical diagnosis of Beals Syndrome even though the test was negative.

I can get her email address to you if you want...

Louise

> >

> > Hey Everyone,

> >

> > We are still looking for answers into why my son Thaddeus is not yet walking at almost 3 ( he will be 3 in Jan) We have re-looked throught all the results for all the testing he has gone through and still no answers.

> > Beals Syndrome test = Negative

> > Chromosome Testing = 100% normal

> > Enzime Test = Normal.

> >

> > Its very frustrating to get all these great results on test but obviously there is something going on because he is not walking. We are waiting to get in to see the nurologist but that wont be till about Mar i think. I dont think they will have any answers eaither so is it a Fluke or what. Thaddeus had Joint contractures when he was born 8 weeks early. all of them have now resolved and we are just dealing with walking and Scoliosis. We are planing to Add to our family but my hubby would like to atleast have a idea what to expect with #2.

> >

> > Does anyone have anything similar going on with thier child???

> >

> >

> > Thanks

> >

> > Mommy to Thaddeus

> >

>

[Guest guest]

What a great post, Becky…Sorry, to hear that you and your family have been through so much.  HRH From: infantile scoliosis treatment [mailto:infantile scoliosis treatment ] On Behalf Of pkfamily7@...Sent: Saturday, October 29, 2011 11:20 PMinfantile scoliosisSubject: Re: Re: Confusing Genetics , First please take anything I say with a grain of salt as I am by no means an expert ... but ... I think one thing that is important to remember with genetic testing is that, scientifically speaking, many of the tests for the more " rare " or uncommon disorders have huge margins of error and therefore the accuracy is just not always there. For example, my daughter has been diagnosed with Incontinentia Pigmenti. There is only one lab in the county that will run the genetic test which alone makes it financially questionable to pursue. We've have 3 different doctors including the geneticist concur on the diagnosis but the geneticist told us NOT to pursue the genetic test because its accuracy was too questionable and whatever the results it would not change her diagnosis. Now, she did recommend to follow the research and realize that all of my girls were potential carriers. While genetic testing at this point was not worth pursuing it would possibly be in the future as science is always improving and it was information my other daughters might benefit from since the disorder is fatal in boys and can be extremely debilitating in girls depending upon when the 2nd X-chromosome shuts down during development. My husband and I have lost several babies and it wasn't until this diagnosis for my daughter that we (the OBs, my husband and myself) were able to realize what was happening in my pregnancies. So, I guess what I'm trying to say is that I know it's frustrating and my thoughts and prayers are with you and your family but genetic testing isn't perfect and if many of the symptoms point to a disorder that that genetic test says is negative, well maybe the symptoms are of more value than the test. Beckymom to , holding at <20*, started at 60*also mom to , , Hannah and > > >> > Hey Everyone, > > > > We are still looking for answers into why my son Thaddeus is not yet walking at almost 3 ( he will be 3 in Jan) We have re-looked throught all the results for all the testing he has gone through and still no answers. > > Beals Syndrome test = Negative> > Chromosome Testing = 100% normal> > Enzime Test = Normal. > > > > Its very frustrating to get all these great results on test but obviously there is something going on because he is not walking. We are waiting to get in to see the nurologist but that wont be till about Mar i think. I dont think they will have any answers eaither so is it a Fluke or what. Thaddeus had Joint contractures when he was born 8 weeks early. all of them have now resolved and we are just dealing with walking and Scoliosis. We are planing to Add to our family but my hubby would like to atleast have a idea what to expect with #2. > > > > Does anyone have anything similar going on with thier child???> > > > > > Thanks> > > > Mommy to Thaddeus> >>