re: Genetic Disorders. [Support Thread.] [GDS]

Quoting charlie waffles:" So we received a letter Thursday saying that they're no longer considering DD "disabled". Now I've got ... [snip!] ... Mine doesn't cover her catheters (right now) or much of her appointments at the pedi urologist. Fun stuff <sigh>"

=( I'm sorry! It sucks to have to deal with all the details like that.

Hey ladies! My name is Amanda and I wanted to introduce myself in here bc I've been looking for support. My son Jace was born May 26th, 2011. After about a week or two, we received a call that he'd need to do a retest of his nb screening. Everyone reassured us it was most likely nothing, false positives all the time. His second teat came back the same, so we were sent to a metabolic specialist for more tests, still told this was rare and probably false positive. He called us a week later and said Jace's carnitine levels were very low, he wanted him to start carnitine supplements that day. Jace is almost 2 months now and we are still waiting for an official diagnosis. He most likely has Primary Carnitine Disorder. Early June we took my son in and his results show his levels were actually lower than Jace's and he started carnitine supplements. So somehow the nb screening missed him. Until Jace's sequencing test comes back, we won't know anythig for sure. But I know no one that has even heard of this and was hoping someone on here would have some knowledge, or just support!

Quoting Amanda&ZamJam:" Hey ladies! My name is Amanda and I wanted to introduce myself in here bc I've been looking for support. ... [snip!] ... sure. But I know no one that has even heard of this and was hoping someone on here would have some knowledge, or just support!"

I hope you get answers soon and welcome!

I called zoey's nurse and told her we made the decision to put the feeding tube in. I feel awful. I don't want it in. I don't care if its " not that big of deal" or how easy it is. This is not what i wanted for my daughter. I don't know what to do anymore.

Quoting Brandi-*EOM*:" I called zoey's nurse and told her we made the decision to put the feeding tube in. I feel awful. I don't ... [snip!] ... if its " not that big of deal" or how easy it is. This is not what i wanted for my daughter. I don't know what to do anymore."

  sorry hun.

Hello GDS momma's and all the NEW GDS momma's . Its been so long since I have been in here . probably close to a year .
Preston is almost 3 already and he is amazing! Im so thankful for him .
I always say to the new mothers I have been meeting that have came to me for support through a group Im in outside of BG that we are the LUCKy one's we actually truly get to understand what "un - conditional Love is.
I have to say THANK you to all the Oldie GDS momma's you all helped me out so much back then I was so scared and felt so alone and you all were there for me when I was down . Thanks miss you Gals.

Hi guys! I have a blog about my SN daughter's journey through life and trying to get a diagnosis and what not. A new post is up and I will be putting up two more later tonight. I will also be making a FB page for my blog later tonight. Stay tuned to the blog for links lol. Check it out, let me know what you think and follow me if you'd like =)

http://www.baby-gaga.com/outbound.php?url=http%3A%2F%2Fwww.caelynpgingery.blogspot.com%2F&post_id=42886331

Caelyn has a FB page to accompany her blog. come and "like" us

http://www.facebook.com/pages/Caelyns-Journey/225609060816759

Have some trach supplies that I'm selling. Anyone interested or know anyone that is interested?

Super excited...girlie FINALLY said "I love you" today! It's the ONE phrase I've been dying to hear from her  

Quoting charlie waffles:" Super excited...girlie FINALLY said "I love you" today! It's the ONE phrase I've been dying to hear from her  "

WOOOOOOOOOOOOOOOOOOOOOOO! CONGRATS :-D Music to Momma's ears, I'm sure!

<blockquote><b>Quoting Elle With Three:</b>" WOOOOOOOOOOOOOOOOOOOOOOO! CONGRATS :-D Music to Momma's ears, I'm sure!"</blockquote>




It totally was  . I kept having her say it all evening, LOL!

Quoting charlie waffles:" <blockquote><b>Quoting Elle With Three:</b>" WOOOOOOOOOOOOOOOOOOOOOOO! CONGRATS :-D ... [snip!] ... :-D Music to Momma's ears, I'm sure!"</blockquote> It totally was  . I kept having her say it all evening, LOL!"

I totally would have, too :-D Ahh, I'm so happy for ya!

well I would like to know what my three year old son has......I have been through three dr's in shands hospital and medical plaza. The only test that they took was the chromosome test. It came out negative. Last month I went for an update and i stood there for two hours talking to him about what I ahve found. I spoke to the cofounder of the kleefstra syndrome and she told me that it sounds like my son has the kleefstra syndrome but when I sent her pictures she said he might not have it. but he might have the atrx but i know he doesn't have that. So I think he might have the angelmans syndrome. But he doesn't want to take any testing right now. For me to come back in another year. That was the second time he told me that. SO forget him and I'm going to see another d which is a two hour drive from where I live at.

ok I have a thre year old who was having infantile spasms at the age of 5 months, but he is done with that now. In the beginning they took a test for chromosome array and came out normal, His genetics dr told me about two months ago that he isn't planning on taking naymore tests. Not at this time, and that my son is a mystery case. So I ahve been going throught hat for about three years. So I decided to go to another dr in st petersburg fl and that same day she took an updated chromosome test and that came out normal as well. But she took a Mitochondria test to see why my son is low tone and his head is small for his age and his developmetla delayed. Can anyone tell me about the mitochondria disease? I have to wait another week for theresults to come back. I can tell you the things that my son has. I ahve to get his heart screened casue they never did that. This week I'm going to. He is developmetal delayed, he can't sit by himself, he can't crwl, he says momma and a little bit of dadda. He bangs his head on his kitty kart when he is mad, he likes to start biting himself now, but not too much of it, he loves to laugh and play alot, he is happy baby. I thought it was the angelmans or the kleefstra but it isn't. He has a gtube casue he had reflux (gerd). He has to ahve surgery in his testicles becasue he never descended. so now he ahs one testicle. they removed the other one. He was doing good with drinking his bottle but for some reason he just stop sucking his bottle. He doesn't want ot swallow his food like he did before. He did everything before but he doesn't do it any more. He has more things but right now I ahve to go and feed him but if someone can help me out that would be great.