Multiple Congential Defects. Diagnosis???

Tamara - posted on 03/01/2009

Sarah Donaldson, I don't know if you've done it or not but there is a support group for Noonan's Syndrome - a great place to get answers and share. It's on facebook and called TNSSG. It might help. The people at that website are from all over the world.

Sarah - posted on 02/28/2009

hi everyone and thank you for your posts! i have been really busy with noa (and school), so i apologize for the delayed response. she had cataract surgery last week and is doing just amazing! it is incredible what doctors can do nowadays. she did she her geneticist last week, the woman is sooooo unhelpful, and she sounds like she does not think it is noonan's. she agreed that noa did have quite a few markers for it, but not the 'major' ones . . . i guess having like 20 of those markers is not enough! *sigh* she offered for noa to take the test, if i am willing to pay out-of-pocket for it, and honestly, that's just not happening. i am really frustrated as i feel i am getting the ol' blow off from this woman. i realize i am sounding kinda bitchy, but noa has many, many doctors, all of whom i think are wonderful, but this lady is very condesending and almost rude. i'm hoping to try to have noa see her former geneticist . . . thanks for all the wonderful input!!!! :)

Susan - posted on 02/27/2009

Hello!  My little guy (who we are in the process of adopting) was born with ASD, VSD, Interrupted aortic arch, and one other heart defect.  He also has a very high palate (which I"m told is a birth defect).  He is almost 16 months and not talking.  I realize he doesn't have as many problems as your daughter, but wanted to encourage you to keep searching for answers.  My baby also had pt and ot.  He has made significant improvements.  He also had acid reflux problems, wheezes when he plays hard, and has had problems with pneumonia.  I do not know what his family history is, so it's kind of hard.  He was tested for Di Gorge (spelling?) syndrome, but tested negative. 

I'm sure you a wonderful mother and must have lots of patience.  I will pray that you can get some answers!

Sarah - posted on 02/26/2009

Hi there, my son is 8 yrs old and has just received a clinical diagnosis of Noonans as his genetics test came back as inconclusive after they tested for the PTPN11 which is only likely to show in 50% of cases but yet is the most common one they seem to test for. They are looking into delving further in the future with other genetic tests as supposedly there are another 4 and are finding more. As he is displaying a significant number of the indicators they are happy to leave it at that for now. They also examined the rest of the family in case it was hereditary but it appears that there was a typing error at the embyronic stage as the rest of the family ( including a 2 yr old sister) dont appear to be displaying anything. There is a wide sliding scale tho so the birthmark on my daughters back could be the only indicator. My son also has aspergers which is linked to the noonans supposedly, was repeatedly hospitalised due to poor feeding + lack of sustenance as an infant + has a global developmental delay along with a few other issues. Yet he is a gorgeous, happy little comedian who cares immensly for those around him more so than a lot of his peers. Good luck with your panel, the earlier you can get the diagnosis the easier it will be to help Noa with direction. I have lived in three states in Australia + this is the first place I have heard from another parent in regards to the syndrome. Thank you!

Tamara - posted on 02/03/2009

Sarah, I understand your frustration - I remember when Josh was just an infant I read something on the internet about kids with his chest deformation had an 80% chance of heart defects. My Dr. (not familiar with it) didn't think that was a problem with Josh. If I had looked further into it, I would have found out about Noonan's and known more sooner. We just got a diagnosis in August '07. He is now 11 1/2. I am grateful to know now. Like the first mother who posted you may not get an exact answer, or there may be more things than just one. Hang in there. I'm glad for a place like this to get answers and information.

Sarah - posted on 02/02/2009

thanks for your response! noa has an appt. with the cranio-facial panel later this month and i am going to grill them. at this point, i am a lil' frustrated bcuz i feel like they overlooked some stuff. if i could get so many respones to this post, then why couldn't they have looked a lil' deeper? maybe it's cuz she had the genetics test and they are taking that as gospel? i dunno, but i do know that i appreciate all the input i am receiving! thanks everybody!!!

Tamara - posted on 01/31/2009

Yes Josh had a DNA test. There are at least 3 known gene mutations associated with Noonans and more yet to be identified. Josh tested positive for the most common one. My understanding was that they specifically tested for that. I don't think it shows up automatically. That's where my lack of a PHd shows up. :-). I will be praying for you.

Jessica - posted on 01/31/2009

There might be something else you can check into called "Russell Silver Syndrome"  My little girl saw a geneticist to rule this out because she has delays and she is very small, the doc mentioned something about pinkie fingers are small and curved in these cases.  This may not apply to you at all but it could be something to read about.  Good luck with your little one.

Sarah - posted on 01/31/2009

OMG! Thank you sooo much Tamara! My daughter has many, many of these traits that are listed. It's crazy!!! Friends always call me and say "Oh, you should look this up. I think it might be what Noa has." Their intentions are good, but in reality they are way off base. As soon as I started reading about Noonan's, I was floored. I just cannot believe the similarites! She has seen two different geneticists and neither one picked this up. I must give credit to the geneticist she saw while in the NICU, as she was just a tiny baby and some markers may have been hard to recognize. Has your son had a DNA test? If so, what were the results? Noa's came back normal, and I don;t know if that rules out Noonan's or not. She will return to her cranio-facial panel nest month and I will def be bringing in this info! Maybe you and I should get our PhD's!!! Thanks again for the info! Have a great weekend!

Tamara - posted on 01/30/2009

Hi, I have a son that was just diagnosed last summer with Noonan's Syndrome (he's had this from birth - he has a mild form of NS). He has congenital defects. There are a lot of things associated with this. He was slow to crawl (11 mos.) didn't walk until 16 months or so. There's a website on facebook called Tnssg that goes into more detail. After he was diagnosed I googled it. There are heart defects, hearing and possibly eye problems as well as learning and developmental delays. Many families on the support group website also mentioned eating/reflux problems. It may not even be close to what you're dealing with - but it might get you in a direction to look at. Another strong NS trait is slow growth. They have a special growth chart for Noonies. My 11 1/2 year old is 58 lbs and is the size of an average 1st grader. Our geneticist recognized immediately what we were dealing with. Hope this helps. I understand the desire to find out what you're dealing with. It's a relief to finally get some answers.

Katie - posted on 01/30/2009

Your daughter sounds like she keeps you busy. She may not get one diagnosis, but you already listed several. She may need anissin for the reflux if it causes serious problems, and the hip dysplasia will need to be followed as well so if it causes problems with sitting or walking it can be fixed. Sometimes it better not to have a sure diagnosis for the insurance companyies and SSI. Once you are defined by a label and then find other issues it is hard to get proper coverage for them then. Your doing a great job with her. Stay on top of the information and just love her for who she is and not pity her for what she has not.