I am a little disappointed as well with the lack of communication on this string but every little bit helps. keep chatting because the more people share the better we can help our kids.
-----Original Message----- From:kwild1@... [mailto:kwild1@...] Sent: Monday, April 04, 2005 4:44 PM To:noonan_support@yahoogroups.com Subject: Re: [noonan_support] Genetic Study
I will look into those groups thanks I was hoping that this one was more active I do understand tho that people other than myself have lives outside of communicating on the net lol
I'm in Seattle. I am relying on the internet for help and support for my daughter. There is a lot of Turner groups out there in which parents and patients are going through the same medical problems as Noonan's kids go through. It might help to join some Turner groups too as they are lots of good conversations on growth hormones, behavioral issues, etc.
I have noticed that the drs here don't really know about Noonan's or turners however, they can treat each medical issue. You just have to go to each specialist and make sure your child is getting the best care for all medical issues that come up. My daughter is 3 months old and already has more drs that I do. I am collecting information on each medical issue that may come up so that if it does, I know who to reach out to and what questions to ask.
The problem with testing for Noonan's is that testing DNA for mutations is so new that you only get a "hit" 50% of the time. I opted for the test because Kylie is my first child and I want to know if either myself or husband have it because if we do, we have a 50/50 chance for any future child being Noonan's. If this had happened to my second child, I may not do the testing because it really doesn't matter what the "syndrome" is, just as long as we treat the medical issues quickly and effectively.
-----Original Message----- From: kwild1@... [mailto:kwild1@...] Sent: Thursday, March 31, 2005 4:05 PM To: noonan_support@yahoogroups.com Subject: Re: [noonan_support] Genetic Study
owen has coarctation of the aorta too, his Karyotype also came back neg. they told me they really cant test for Noonans right now and they just have to put all the characteristics into the computer and then they can "decide" which syndrome is a closer match. ANyway its very frustrating indeed...Im notsure where you are but Im in Kansas and not alot of Drs know about Noonan's sooo we are kind of teaching them
she was born with a webbed neck. They originally thought Turners but her Karyotype test came back normal. Than about 2 weeks after birth they heard a heart murmur and she went in for emergency surgery to repair coarctation of the aorta. She also has a bicuspid aortic valve. All still lead to Turners however, genetics feels that the blood test done rules it out so the next best guess is Noonans. She really doesn't have many of the Noonan characteristics but when you look at her dad, he kind of does so we are checking it out. But like I said, there is only a 50% chance that they will find an mutation in the DNA. If they don't, than we just have to treat her medically as if she has Noonan's. Very frustrating.
-----Original Message----- From: kwild1@... [mailto:kwild1@...] Sent: Tuesday, March 29, 2005 2:27 PM To: noonan_support@yahoogroups.com Subject: Re: [noonan_support] Genetic Study
Thanks, I wondered if they would make us wait or not I hate waiting! ASD is Atrial Septal defect, PFO is Patent Foramen Ovale and PVS is Pulmonary Valve Stenosis the heart defects go along with the Noonan's good luck on the test results I hope they dont find anything negative...ps not to be nosey but what made you decide to have her checked?
we just had our daughter in a couple of weeks ago to see if we can track down a noonan diagnosis. They took a tiny brush and rubbed her cheeks for 30 seconds on each side. They than will go in and check the DNA makeup of a specific Chromosome. They only find a mutation 50% of the time and it takes 8 weeks for the results. If they do find a mutation, they will test my husband and I to see if we passed on the gene as it is dominate and would mean that any furture kids would have a 50% chance of being noonan.
What is IS, ASD, PFO, PVS?
-----Original Message----- From: kirsten [mailto:kwild1@...] Sent: Tuesday, March 29, 2005 10:36 AM To: noonan_support@yahoogroups.com Subject: [noonan_support] Genetic Study
Hi everyone, we have an appt with the Geneticist on Thursday to do their little work up....Im wondering if anyone has had any experience with this and what does it entail? Thanks...Kirsten mom to Alexandria 12,Ethan 2 1/2 and Owen 29.5 Wkr.10 mos Noonan Syndrome,Gtube,IS,ASD,PFO,PVS
Hi everyone, we have an appt with the Geneticist on Thursday to do their little work up....Im wondering if anyone has had any experience with this and what...
we just had our daughter in a couple of weeks ago to see if we can track down a noonan diagnosis. They took a tiny brush and rubbed her cheeks for 30 seconds...
MessageThanks, I wondered if they would make us wait or not I hate waiting! ASD is Atrial Septal defect, PFO is Patent Foramen Ovale and PVS is Pulmonary Valve...
she was born with a webbed neck. They originally thought Turners but her Karyotype test came back normal. Than about 2 weeks after birth they heard a heart...
Messageowen has coarctation of the aorta too, his Karyotype also came back neg. they told me they really cant test for Noonans right now and they just have to...
I'm in Seattle. I am relying on the internet for help and support for my daughter. There is a lot of Turner groups out there in which parents and patients...
... withNS and im looking for an actice support group mostr of the people i email dont write back. I understand if you dont reply. I would like to get the...
what would you like to know I live in washington tri-cities. I have NS so I'll try to anwer any Qustons you have if I don't get back right a way it's because i...
I wanted to know how to sign up for the turner support group. At the time I now have support from a more active Noonans support group.But it would not hurt to...
MessageI will look into those groups thanks I was hoping that this one was more active I do understand tho that people other than myself have lives outside of...
I am a little disappointed as well with the lack of communication on this string but every little bit helps. keep chatting because the more people share the...
Hello I have been listening to what you have been saying for the past month now. And just wanted to let you know that I have noonans I am right now 23 years...
HI there, I have found numerous things on Noonan's, not many different things tho I just put Noonan Syndrome into my search engine and found things that way....
you can search the net under turners syndrom too and find alot of info that pertains to Noonan's as they are both very similar. Now that you are past you...
We have know for quite a while My Dad has it my older sister has it and now I have it. I am not sure if I had feeding issues or not my parents never told me....
Well thank you so much. well my sister had to have open heart segery when she was only 3 I can't remember at the moment of what she had. I think its my...
I will tell you what little I have learned. You may already know all of this but thought I would share just in case. Noonan's is a dominate gene therefore,...
I can probably come up with some info for u if you would like. Owen has feeding issues, he will not take anything by mouth so we have speech but it doesnt...
The information I have says 76% of Noonan babies have feeding problems. Pretty common. Kylie had a GTube at birth for a couple of days but that was because...
MessageI see, thanks for letting me know...how early was Kylie? Owen was a 29.5 wkr I had polyhydramnios (too much fluid) dr. never knew why well hello if he...
I was hospitalized at 32 weeks for dangerously low fluid, opposite you. We delivered at 35 weeks because she was starting to get stressed. Same thing with...
MessageIt was a definate scary time for us...Owen was "big" for gestation he was 3 lbs 14 oz. then dropped down to 3 lbs 2 oz still looked tiny to me anyway...
We are meeting with children's therapy this month to make sure she gets occupational and physical therapy early. Its is very common for Noonan kids to be...
MessageWe get PT/OT/Speech he doesnt really play with toys or roll over yet, he does smile occasionally he has laughed a handful of times he he turns his head...
Thanks! I think she is pretty cute myself. We got our Genetic study back and they didn't find anything conclusive. Now we don't know if we should continue...
Messagewhat kind of therapy are you starting? I know you said but I forgot lol Im sure you will do great! We are still waiting to hear something from our last...
Occupational and Physical. Not sure what that all means for a three month old baby but I am interested to find out. ... From: noonan_support@yahoogroups.com...
Messageour OT and PT just come and stretch him they also try to make sure his head is midline and that his hands are together he needs lots of help so it may...
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