Re: [Families of Angelman Syndrome] New member
- Hi Wanda,
I don't post much to this list,, if ever,, it's not very active. If you suspect your son has AS, i would ask for the FISH test, this will pick up a deletion in chromosome 15. Depending on the results of that test your Dr. may suggest a methylation test to detect what type of AS it is,, like UPD. If both of those come back negative, then you can go for the ube3a sequence analysis. This may not be covered by insurance and some Dr's. are reluctant to do it. Start with the FISH test and see what that shows. Below is a link on testing from the Angelman Syndrome Foundation's web page.
Some of it might be to technical, so if you have any questions just ask. I'm not a genetic guru, but i'll do the best i can!
And yes, i was blessed with 3 angels.
Mandy 11yrs. ube3a, Angie 6yrs. ube3a, and rocky 2yrs ube3a
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- Hi Susan!
My little one Josh just turned 18 months on the 1st! Wow, such
close birthdays! Josh is also deletion +. We are just starting to
get hooked in to therapies, we have our intake appointment coming up
in a couple of weeks. He is crawling, sitting sturdy, feeding
himself dry foods, drinking from sippy cup, a whole plethora of
things. So, he is doing well, for not having any intervention yet.
Can't wait to get working on the walking! Oh please let this kid
walk soon! Moms of non-AS kids keep telling me, that mobility isn't
all it's cracked up to be, but I keep telling them, neither is
carrying them everywhere! :) We were just diagnosed on May 1st, so
this is all still very new to us, and sometimes overwhelming, and
sometimes very heartwrenching. We are in the San Francisco Bay Area.
Tell me more about Ian! When was he diagnosed?
--- In email@example.com, SUSAN WINFREY
>a few lines or either way is o.k. my son will be 18 months on 6-6,
> Sonya and Laurie,
> Girls please feel free to personally drop me
tell me where you two live, I'm from Grove, Oklahoma, Grand Lake. I
would love to compare notes and therapys. Are your angels
deletions?, Ian is.
> Laurie <greg.and.laurie@...> wrote:
> Welcome Sonya!
> I just recently found this little home as well. Our sweet little
> boy was just diagnosed at 17 months which was only 3 weeks ago.
> Can't wait to get to know you and your little one better!
> Take Care,
> -- In firstname.lastname@example.org, "sonyahedge"
> <sonyahedge@> wrote:
> > So glad I found you guys! My sweet boy was diagnosed at 1 year
> > and now is 17 months. I have quickly discovered my best
> > be through other parents. I have spent too much time on the net
> > while at work and will be back on Monday. Can not WAIT to make
> > connection in this world... that until now my son was the onlyone
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> > seemed. All of the photos of the children are so beautiful and
> > resemble my son in many ways. I cannot wait to tell my husband
> that I
> > have found a wonderful resource for info and advice!!!!!!!! So
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