Re: Testing-Stevie

May 27, 2011

Make sure you ask the geneticist to do a minimum of 500 cells (not any

less...they tend to only do 20 cells unless prompted otherwise) to get more

accurate diagnosis. With mosaicism, the numbers will change over time, but is

there are not any trisomies in one of the lines (like skin), then I would assume

there won't be any later, but that assumption may be flawed because it only

takes one cell to multiply and that cell might ot be detected. (Also, I read an

article about late onset Down syndrome; however, I cannot find it presently.)

If you want, you can visit my son's Facebook page (Charlie Hart TenEyck) and

print a copy of the paper " Exclusion of Chromosomal mosaicism within 90%, 95%,

and 99% Confidence Limits " and take that with you to the geneticist. Our

geneticist gave it to us, along with an explanation that 20 cell counts were

just not enough and that 500 cells needed to be tested in order to get results

that within 99% confidence (sure they are right).

Once on Charlie Hart TenEyck's Facebook page, you have to scroll down to get to

the article. It is near the bottom of the page. The link is listed twice, but

the papers in the 2nd post (nearer the bottom) are posted for you to click on.

=)It will be listed under the topic heading :

Charlie Hart TenEyck

Help ENACT " Charlie Hart's Law " , which requires a minimum of 500 cells to be

counted when chromosomal tests are performed in laboratories to determine a

genetic condition. Anything less than 500 cells is not quantitative enough and

will not rule out mosaicism.

Exclusion of chromosomal mosaicism: tables of 90%, 95% and 99% confidence limits

and comments on use

www.ncbi.nlm.nih.gov

There are FOUR pages to print out.

Let us know how the testing of the two cell lines turns out.

>

> Hi Allysa,

>

> That was NOT way too much information! Anything I can get is valuable. We have

a great pediatrician who had already gotten the ball rolling with early

intervention months ago, before I made any mention of DS. (Just because of the

obvious hearing loss & developmental delays) I didn't think about additional

local resources, so thanks for that info & I will be looking in to all of that.

I want to give Caede all the opportunities that I can, but I wasn't sure what

was available or where to begin looking. So again, thanks for that! And I had

read that it is best to get tests done on blood and skin cells because the

percentages can be varied, so we will mention that to the geneticist at

children's hospital when we're there.

>

> Its funny that you're kids are also a year and a half apart! Caede's older

sister Gracie is the polar opposite of him and pretty much does everything for

him. At first that's why we thought he wasn't talking- because all he has to do

is let out this little high pitched squeal and she will run & fetch whatever it

is that he wants. How she knows what he wants, I have no idea, but she does!

>

> And you also almost miscarried during your pregnancy? I'm sorry for that and

glad that your little girl made it through. In doing some of the research on

MDS, I read that an increased risk of miscarriage is common when your child has

DS. So I don't know if that had anything to do with it or not, but the genetics

people put it on Caede's " list " of MDS symptoms when I was being interviewed.

And I guess that's why this whole process isn't freaking me out as much as

everybody seems to think it should. Of course, I want him to have the best life

possible and be as " normal " as possible. But I'm just so glad to have him HERE

after fighting so hard during the pregnancy to keep him from being born too

early. And especially after losing our first boy, I'm so glad to have this

beautiful boy I have now, who has blonde hair & blue eyes just like his brother.

(My daughter, adversely, looks just like her father- brown skin, brown hair,

brown eyes!) We've just been

> praying about it a lot and we'll see what happens next, but no matter what

the outcome is, we're just thrilled to have two healthy & perfect kids.

>

> Stevie

> (Caede's Mom)

>

> ________________________________

>

> To: MosaicDS

> Sent: Wednesday, May 25, 2011 5:49 PM

> Subject: Re: Welcome New Family!

>

> Hi ,

>

> It is really strange - my husband immediately accepted it as well and never

looked back. I was worried how he would respond since some husbands don't

handle these types of situations well or harbor anger/guilt. He told me that

she was his little girl and he would treat her exactly the same until he saw a

need to change. He has been true to his word and treats her exactly the same as

my older daughter (except for the year and a half difference in their ages). I

am the one who 'watches' for anything which may need more work, meets with the

ECI team, is involved with our local DS organization and takes her to places

like 'My Gym' to help strengthen her muscles, etc. The funny thing is that I

didn't tell the people at My Gym anything about her and they actually moved her

up to the next class 4 months early because they thought she was ready. They

expect more of her because they don't know any differently. I take such pride

when strangers observe her

> and happen to mention that her speech is good or that she is smart (when she

is counting or reciting 'three little pigs'). We get such joy from her

successes.

>

> Once you get a result, get engaged with your local Early Childhood

Intervention team and get a good pediatrician (if you don't have one already).

If your son does have MDS, you will want to treat him like he is full DS and

have all the testing completed. ECI will help you with your local resources,

provide your therapy (OT, PT, Speech and cognitive). Try to get to them ASAP so

that you can get these service started right away since you will benefit and so

will your child. Your local Down Syndrome association may also offer free

classes like Gymboree, music classes, signing classes (for you and your child),

swimming classes and I would encourage you to utilize any resources you think

would help Caede.

>

> You sound very positive for going through this testing but it sounds like you

have already been through a lot. You are probably in a much better position to

deal with the news, no matter what the outcome. Strangely enough, I also thought

I was losing Lexie during my pregnancy.

>

> Just as an aside, we received the results on the blood tests and made a choice

to have her skin tested as well. The difference in percentages was 40%, so the

numbers can vary drastically as well as not providing an indicator of the

severity of MDS. However, we needed as much information as possible at the time

for our own knowledge. I am not advocating one way or the other, but just

letting you know that the skin vs. muscle vs. blood %s can vary drastically and

depending on the number of cells tested, may not be very accurate. I fought

hard but could not convince my hospital to test more than 50 cells which is not

a good sample size. They are very good at being sneaky with their testing

methods, # of cells, etc. even when specifically asked. They even provide a

print out of the cells under the microscope, which you should be provided (if

not, ask!). You might also want to get a copy of his medical records as I also

found lots of notes from the

> Geneticist that he never told me during the appointment. Beware,if you go to

a geneticist, it really is only for the benefit of them collecting data and will

not provide much feedback (unless you plan on having another baby). People's

experiences with geneticists has been varied in the group, but many have found

it to be a one way chat with you talking and asking questions and them not

providing many answers. This may be because there aren't many answers to provide

and also because that doesn't seem to be their role (still not completely sure

what they do except collect research on your child and tell you the basics of

DS).

>

> Wow - way too much info in one e-mail. Take what is useful and discard

anything else!

>

> Kind Regards,

> Allysa

>

May 27, 2011

Thanks so much! Will definitely be using this. Kind of tired of doctors thinking

I am a crazy hypochondriac mom... but if I don't stand up for my baby, no one

else will. And the earlier we get this diagnosis, the earlier we can start

working with him. I can't seem to find the facebook page that you mentioned

though... maybe I am spelling it wrong. Will try again. Thanks so much for this

information!!!

Stevie

________________________________

To: MosaicDS

Sent: Friday, May 27, 2011 7:33 AM

Subject: Re: Testing-Stevie