Tales from my life as a mom of 2 sons and 2 daughters


Cheli On Monday, April 20, 2009
Meant to type this a few days ago and forgot... oops

We went to see Yanni's Voices Tour here in Jacksonville with a couple friends of mine. It was a spectacular show as we knew it would be (how could it not with someone with so much talent playing). My friend Cindy and I spent ALL day today getting "dolled" up. For those of you who don't know me. I DON'T wear make up. EVER. The last time I got dressed up and wore make up was when I graduated from the PN program back in 07. So tonight was yet another way I've decided to change. I'm going to start wearing make up more often. So we of course took a couple of pictures before the concert and I wanted to share. These will serve as an updated "me" picture. I'm approximately 162 lbs right now....

And here is one of me at my heaviest.. and actually from the last time I wore make up too LOL

Cheli On Wednesday, April 15, 2009
Well that last 2 weeks have been insanely busy for us. River went last tuesday and was evaluated at a Sensory Integration Clinic. He has Sensory Integration Disorder/ Sensory Processing Disorder. He is pretty far behind in some areas due to this condition and as such will be recieving OT and ST through the clinic twice a week (Tuesday and Thursday) for coping skills and to help him developmentally. This about a boy who didn't qualify for Early Steps because he was advanced. LOL. We took the boys sometime a few weeks ago (March 31st I think) to get their pictures done.. I'll post some of our favorites at the bottom of this post.

Yesterday Journey went to the GI doc for another follow up. The doctor doesn't think his symptoms are conducive of his original diagnosis of GERD but he DOES feel they are very in sync with Noonan Syndrome. Surprise Surprise. He said that he's so sure that he's over the GERD issues that he's comfortable taking him off of Zegrid for the time being and seeing how he does with that. He asked if Journey had been evaluated through Early Steps yet and I told him yes and about how he will be recieving feeding and speech therapy starting next week once a week in our home. He said in his opinion he felt that Journey could benefit from more than just once a week and urged us to get a 2nd opinion. He also said he felt that he could benefit from some PT as well. Told us to ask our pediatrician for a referral. He is now 23 lbs even and 28.6 inches. He has officially fallen off the growth chart for height. In fact even on the adjusted charts for Noonan Kids he is only in the 25th percentile for height. But at least he's on that chart. Weight wise.. we're thrilled. Guess that's what happens when you drink 30 oz of milk a day.
So then today we took Journey to the pediatrician because he's had some ROUGH ROUGH nights the last 3 nights. Up every hour from 10pm until 3am tossing and turning through out the night etc. Well he has the start of an ear infection in his right ear but his left ear looks good. So she gave us an antibiotic. BLAH. Then she chewed me out because his shots aren't up to date. BLAH BLAH. I asked her for the referral to the evaluation center for a 2nd opinion and she wouldn't give it to us. *sigh* Said we need to either get it from the GI doc or we need to get the GI doc to fax them a letter stating that he wants him evaluated for more therapy sessions. Because I have time to jump through their hoops. Whatever. I think we're going to talk with Early Steps and see if they can recommend a doctor in our town who has experience with special needs kiddos because I'm becomming less and less impressed with our current dr's office.

OK so here are the pictures as promised:

Cheli On Friday, April 3, 2009
These are the Characteristics of Noonan that currently apply to Journey....

Depression of breast bone
Shortness of stature
Broad Forehead
Small chin
Hypotonia (low muscle tone)
Chronic crying in infancy
Overly Sensitive
Obsessive behavior; liking of routine
Extreme mood swings
Clumsy; poor coordination
Gross motor delays
Fine motor delays
Widely set eyes (hypertolerism)
Edema of the back of hands and tops of feet
Low posterior hairline
Keloids (excessive buildup of scar tissue on the skin following a cut or surgery)
Pigmented birthmarks(nevus)
Bruises easily
Low set
Micrognathia (small mouth)
High Arched palate
Speech and Language delays
Poor tongue control
Eating less than normal
Faddy eater
Digestive/Intestinal problems
Frequent or forceful vomiting
Swallowing difficulties
Large Head
Distended abdomen
Pulmonary Valvular Stenosis
Heart Murmur
Cheli On
Today was Journey's Genetics appointment.. FINALLY

In case you don't remember, he didn't have the test for Noonan specifically because there was no lab in our state the could do it and no out of state lab that would take our insurance. So they did a Chromosomal test and a Microarray instead and said we'd go from there. That was back in January that we got the tests done.

Anyway.. his Chromosomal and Microarray both came back normal. What this tells us is that he doesn't have a chromosomal defect or anything missing or out of place as far as that goes. However, the chromosomes have nothing to do with Noonan so he wouldn't have anything wrong with them even if he was a Noonan kid.

So where does that leave us? According to the geneticist it leaves us with definite characteristics for Nooan Syndrome but no way of definitively diagnosing it. The two ways of diagnosing Noonan Syndrome is to 1) do genetic testing specific for Noonan Syndrome or 2) be clinically diagnosed based on physical characteristics distinctive to Noonan. And according to her while Journey does have quite a few of the physical characteristics of Noonan and many "suspicious features" associated with Noonan they are far enough "off" to definitively lead to a diagnosis of Noonan. Apparently there are guidelines that tell them whether a child can be clinically diagnosed with Noonan and Journey's features are off by enough to do so at this time. She said that as he grows it's quite possible that some of the effects of Noonan and even some of the physical characteristics that he's displaying to a lesser severity could become more evident at which point they would be able to clinically diagnose him.

For now he is labeled as "probable Noonan Syndrome" until we can get the testing done (we were informed that just the first tier of testing is approximately 500 dollars out of pocket) or until he shows more definitive characteristics of the syndrome at which time it would change. She said she wouldn't be surprised if he has it and feels he probably does but that it really doesn't change any of his care at the moment or effect him in any way other than the ways we are already addressing, GI doctor, therapies for developmental delays, cardiologist, etc. She said when he hits school age it will probably become more evident if he is as his "short stature" will become more of an issue for him and at that point we would talk about Growth Hormone if needed. She said we would also probably what the defenitive diagnosis before he marries and procreates because he can pass this on although she doesn't think Doug or I passed it to him.. she thinks it is probably just a "fluke".

We'll see them again in January for another follow up and then yearly from there.