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
Hypernasality
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
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
Hypernasality
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
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.
On Saturday, March 28, 2009
Time seems to be disappearing into a vaccum. I mean to update often and before I know it, weeks have gone by since the last update. Oops.
As it stands, I have 3 weeks left of my 2nd semester of school. I'm doing well, not as well as I probably should be considering this is my only class this semester but oh well. An A is an A , right? My last day of this semester is the 16th of April. The next semester doesn't start until the 30th of April. YAY. 2 whole weeks off. We are thinking about getting out of town during that time but I'm not sure that will happen. Next semester I have Chemistry, Communications, Sociology, and Transitional Nurisng. Oh boy.
My weight loss is going well. I'm at 172.9 this morning. My lowest weight being 168. I will get there. I will pass it. Hopefully soon. I go April 1st for my next appointment with the doctor. My goal is to be 168 by then. :)
Now for the stuff with Doug's work.. We spoke with them in regards to getting Doug put on a schedule that would be possible for us to manage while I'm in school. They said it definitely sounded possible, they needed to talk with the regional manager to okay the change, could the have a couple of days. We gave them 4. Doug asked and she said that she hadn't had a chance to talk to the manager because she had left town for 2 days. We waited until Thursday. We asked Thursday and she gave us yet another reason why she hadn't gotten an answer. So we decided that it was time to leave Massage Envy and try it on his own. So he has been out of Massage Envy for a bit over a week now. And he's doing just fine. He's getting 3 to 4 massages a week and more calls with interested people than that. Everyone he's massaging has loved what he can do. And best of all, he's making about 4 times the amount of money he was making per massage at Massage Envy.
We are taking the boys to get their pictures done on Monday. Finally. We never took Journey to get his 9 month pictures done as he was sick around that time and then around a year we just got really busy with him being sick again and we couldn't. So he'll be going in for his 12 month pictures at almost 14 months but oh well. And River will be getting his 3 year pictures done. I'm really hoping to be able to get a picture done of both boys together. We don't have one yet.
We took River to the doctor this past week because we are still thinking there might be something sensory going on with him. When we mentioned it to the doctor she more than willingly wrote a referal to a sensory integration department at a local medical center for testing. As much as I don't want anything to be wrong with him, it sure would explain a lot of his behaviours. Other than those issues, he's been doing great. He's so smart. I'm in the process of reading "Setting Limits for Your Strong Willed Child" in hopes that it gives me some idea of what to do with him. He doesn't listen, he back talks, he acts up. It's frustrating.
Journey is doing great. He is walking almost full time now and getting better and better at it. He prefers walking over crawling now. It's amazing to watch him toddle around. He is still having issues with feeding. He has major adversions to certain foods and he doesn't get sippy cups. Hopefully when the therapist starts coming around next month she'll be able to help him. He's still not talking at all. He's back to saying "Da Da Da" repeatedly but he doesn't really get what it means and doesn't make any other sounds. He goes Friday for his genetics appointment finally.
As it stands, I have 3 weeks left of my 2nd semester of school. I'm doing well, not as well as I probably should be considering this is my only class this semester but oh well. An A is an A , right? My last day of this semester is the 16th of April. The next semester doesn't start until the 30th of April. YAY. 2 whole weeks off. We are thinking about getting out of town during that time but I'm not sure that will happen. Next semester I have Chemistry, Communications, Sociology, and Transitional Nurisng. Oh boy.
My weight loss is going well. I'm at 172.9 this morning. My lowest weight being 168. I will get there. I will pass it. Hopefully soon. I go April 1st for my next appointment with the doctor. My goal is to be 168 by then. :)
Now for the stuff with Doug's work.. We spoke with them in regards to getting Doug put on a schedule that would be possible for us to manage while I'm in school. They said it definitely sounded possible, they needed to talk with the regional manager to okay the change, could the have a couple of days. We gave them 4. Doug asked and she said that she hadn't had a chance to talk to the manager because she had left town for 2 days. We waited until Thursday. We asked Thursday and she gave us yet another reason why she hadn't gotten an answer. So we decided that it was time to leave Massage Envy and try it on his own. So he has been out of Massage Envy for a bit over a week now. And he's doing just fine. He's getting 3 to 4 massages a week and more calls with interested people than that. Everyone he's massaging has loved what he can do. And best of all, he's making about 4 times the amount of money he was making per massage at Massage Envy.
We are taking the boys to get their pictures done on Monday. Finally. We never took Journey to get his 9 month pictures done as he was sick around that time and then around a year we just got really busy with him being sick again and we couldn't. So he'll be going in for his 12 month pictures at almost 14 months but oh well. And River will be getting his 3 year pictures done. I'm really hoping to be able to get a picture done of both boys together. We don't have one yet.
We took River to the doctor this past week because we are still thinking there might be something sensory going on with him. When we mentioned it to the doctor she more than willingly wrote a referal to a sensory integration department at a local medical center for testing. As much as I don't want anything to be wrong with him, it sure would explain a lot of his behaviours. Other than those issues, he's been doing great. He's so smart. I'm in the process of reading "Setting Limits for Your Strong Willed Child" in hopes that it gives me some idea of what to do with him. He doesn't listen, he back talks, he acts up. It's frustrating.
Journey is doing great. He is walking almost full time now and getting better and better at it. He prefers walking over crawling now. It's amazing to watch him toddle around. He is still having issues with feeding. He has major adversions to certain foods and he doesn't get sippy cups. Hopefully when the therapist starts coming around next month she'll be able to help him. He's still not talking at all. He's back to saying "Da Da Da" repeatedly but he doesn't really get what it means and doesn't make any other sounds. He goes Friday for his genetics appointment finally.
On Wednesday, March 11, 2009
Journey has been right on the verge of taking those first steps for weeks. He's gotten faster and faster at cruising the furniture and more daring by the day. He started taking chances by letting go of the furniture and clapping etc.. then he start to go from the table to the couch which involves turning around and stepping forward (falling forward). And then today....
All day today he has been taking a few steps here and there. He wants so badly to just DO it but just doesn't have the coordination or strength yet I don't think. He can take 4-5 good steps before he has to plop himself down on to his butt. Once he's down he starts clapping his hands like he's so proud of himself for it :) LOL And he watches everyone else to see if they are clapping for him too. This is how we keep him from crying when he falls or bangs into something, clapping and saying "YAY JOURNEY" and then he starts clapping too and forgets to be upset. I think we've created a monster.
We have also started teaching him the word "NO", he's into everything recently and pushing his boundries already. He does things and then looks to see if we're watching and guages our reactions. His favorite no no is getting into the garbage can. We have it under our sink in a cabinent and he will open the door and mess with the door (never the actual garbage yet) and we're trying to teach him that he can't go in there so we'll tell him NO. And he acts like his whole little baby world has just been ripped into shreds. LOL He sits down and his chin quivers and his face gets red and his eyes well up with tears.. and 5 minutes later he's doing it again. OY.
He is sick.. again.. we took him to the doctor on Tuesday for his Synagis appointment. They take his temperature and it was 100.3.. technically a fever cut off is 100.4.. so they weigh him in (which has turned into a totally traumatic event for him for some reason)and take us back to the room to wait for the NP to come in and assess him etc. She comes in after a few minutes and says that she needs to retake his temp because they can't give the Synagis if he's running a fever.. okay. She takes it and it's up to 100.8.. damn. 10 minutes and it climbed a half a degree.. He has a history of febrile seizures (October of last year) so we don't want it climbing fast. She assess him and discovers that his ears which were clear when we were there 5 days earlier for his yucky sounding cough, are now bulging and deep red. BOTH of them. Double damn.. So he's on Bactrim for 10 days. She didn't even attempt Amoxicillin because she said it's crap (I agree). He goes back in 10 days for a re-check. Poor kid. She also gave him something to try and help clear up his cough. It's C-Phen DM.. come to find out from the pharmacy this got flagged on his account as a no no because of his reaction to morphine. Apparently the "DM" that is on alot of medications is a derivative of morphine.. nice.. But both the pedi and the pharmacist said that it's so low of an amount that they don't think it would effect him any even with how serious his reaction was to it back in April. So we gave it to him.. luckily no problems.
Oh and for those who are interested.. he lost 1/2 a lb from his 12 month weigh in. He weighed in on Tuesday at 21 lbs 8 oz. And he's still only about 28 1/2 inches long.
All day today he has been taking a few steps here and there. He wants so badly to just DO it but just doesn't have the coordination or strength yet I don't think. He can take 4-5 good steps before he has to plop himself down on to his butt. Once he's down he starts clapping his hands like he's so proud of himself for it :) LOL And he watches everyone else to see if they are clapping for him too. This is how we keep him from crying when he falls or bangs into something, clapping and saying "YAY JOURNEY" and then he starts clapping too and forgets to be upset. I think we've created a monster.
We have also started teaching him the word "NO", he's into everything recently and pushing his boundries already. He does things and then looks to see if we're watching and guages our reactions. His favorite no no is getting into the garbage can. We have it under our sink in a cabinent and he will open the door and mess with the door (never the actual garbage yet) and we're trying to teach him that he can't go in there so we'll tell him NO. And he acts like his whole little baby world has just been ripped into shreds. LOL He sits down and his chin quivers and his face gets red and his eyes well up with tears.. and 5 minutes later he's doing it again. OY.
He is sick.. again.. we took him to the doctor on Tuesday for his Synagis appointment. They take his temperature and it was 100.3.. technically a fever cut off is 100.4.. so they weigh him in (which has turned into a totally traumatic event for him for some reason)and take us back to the room to wait for the NP to come in and assess him etc. She comes in after a few minutes and says that she needs to retake his temp because they can't give the Synagis if he's running a fever.. okay. She takes it and it's up to 100.8.. damn. 10 minutes and it climbed a half a degree.. He has a history of febrile seizures (October of last year) so we don't want it climbing fast. She assess him and discovers that his ears which were clear when we were there 5 days earlier for his yucky sounding cough, are now bulging and deep red. BOTH of them. Double damn.. So he's on Bactrim for 10 days. She didn't even attempt Amoxicillin because she said it's crap (I agree). He goes back in 10 days for a re-check. Poor kid. She also gave him something to try and help clear up his cough. It's C-Phen DM.. come to find out from the pharmacy this got flagged on his account as a no no because of his reaction to morphine. Apparently the "DM" that is on alot of medications is a derivative of morphine.. nice.. But both the pedi and the pharmacist said that it's so low of an amount that they don't think it would effect him any even with how serious his reaction was to it back in April. So we gave it to him.. luckily no problems.
Oh and for those who are interested.. he lost 1/2 a lb from his 12 month weigh in. He weighed in on Tuesday at 21 lbs 8 oz. And he's still only about 28 1/2 inches long.
On Tuesday, March 10, 2009
What would you do???
Doug and I are stuck and we aren't sure which way we should go from here..
As you know I'm in school for my associates degree. Starting in May I will have 4 classes a week and then in July I will have 5 days of school a week and clinicals. Clinicals will require some overnight shifts and some day shifts and 12 hour shifts plus the school work is a lot harder than I thought I just don't have time to study when Doug's at work and I'm alone with the boys. So we've thought of a few choices to go from here..
1) Have Doug stay with Massage Envy working the hours he is for as long as possible and then once it becomes not possible anymore have him stop and devote all of our energy into getting him clients independently to bring money in. Which would give us guaranteed money while he's with Massage Envy but by the time he needs to start doing it on his own he won't have had any time to build up a client base for it which could leave us with out enough clients.
2) Have him stop Massage Envy while we are ahead and have a good nest egg in the bank and throw himself whole heartedly into getting clients independently. Which would give him MAJOR flexibility so I can study and be gone when I need to be with out worry but not guaranteed work especially in the beginning.
3) Stick with Massage Envy, go full time instead of part time and find a daycare/nanny/sitter for the boys and try to get Doug's hours moved to daytime instead of evenings. This would be great but there are ALOT of what if's here. If Massage Envy won't give him daytime hours if we can't find an affordable sitter.We can't really put Journey in daycare so it would have to be a private sitter or someone with very limited number of children in their care. But if we could he would bring home even more money than he is now and he'd still be home in the evenings for us. Doesn't offer much flexibility in scheduling though as far as sick kids etc..
We have put ALOT of thought into this and we see the pros and cons of each situation and we just don't know what's the best option. *sigh* ANY input would be SOOOO appreciated.
Doug and I are stuck and we aren't sure which way we should go from here..
As you know I'm in school for my associates degree. Starting in May I will have 4 classes a week and then in July I will have 5 days of school a week and clinicals. Clinicals will require some overnight shifts and some day shifts and 12 hour shifts plus the school work is a lot harder than I thought I just don't have time to study when Doug's at work and I'm alone with the boys. So we've thought of a few choices to go from here..
1) Have Doug stay with Massage Envy working the hours he is for as long as possible and then once it becomes not possible anymore have him stop and devote all of our energy into getting him clients independently to bring money in. Which would give us guaranteed money while he's with Massage Envy but by the time he needs to start doing it on his own he won't have had any time to build up a client base for it which could leave us with out enough clients.
2) Have him stop Massage Envy while we are ahead and have a good nest egg in the bank and throw himself whole heartedly into getting clients independently. Which would give him MAJOR flexibility so I can study and be gone when I need to be with out worry but not guaranteed work especially in the beginning.
3) Stick with Massage Envy, go full time instead of part time and find a daycare/nanny/sitter for the boys and try to get Doug's hours moved to daytime instead of evenings. This would be great but there are ALOT of what if's here. If Massage Envy won't give him daytime hours if we can't find an affordable sitter.We can't really put Journey in daycare so it would have to be a private sitter or someone with very limited number of children in their care. But if we could he would bring home even more money than he is now and he'd still be home in the evenings for us. Doesn't offer much flexibility in scheduling though as far as sick kids etc..
We have put ALOT of thought into this and we see the pros and cons of each situation and we just don't know what's the best option. *sigh* ANY input would be SOOOO appreciated.
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