Merry Christmas

Merry Christmas.

Thank you everyone 

for your support this

last year.

E.R. Visit

So Andrew and I had an eventful evening last night. we went with grandma to Wal-Mart to get my cards printed off and when we got home she left and two seconds later Andrew took off to look out the front window and turn the lights on. Well that didn't go according to his plan. He tripped and split his eyebrow open. So travis calls my mom back and she drives us to the E.R. He stayed behind to get the other kids ready for bed. Well one and a half hours and one internal and three external stitches later we are home. He did really good. Here are a couple pictures from my cell phone while we were there.

Here is the "damage"

Waiting for it to numb up.

And the stitches.

He goes Monday the 22nd to get them out.

Hearing Eval.

So Andrew had his hearing evaluated last week. The technician said he was with in normal range for hearing. A few days later I got the report and I had no idea how to read the graphs and all the numbers that were on the form. So I showed his speech therapist. She said that normal hearing is in the  -10 to 20, Andrew cam in right at 20 with at 4000 hertz he came in at 25. So depending on who you ask what web site you look at he is either just fine or has mild hearing loss to the higher pitched sounds.  So, yes he is with in normal range on hearing but one more step down he will be considered mild hearing loss.

Speech eval.

So yesterday we had his speech evaluation done. Here is the short version. After two hours of evaluating she came to the conclusion of yes he need speech therapy. I could have told her that. As for his delays in his understanding of speech he is at a 12-15 month level which is consistent with his other levels. His expressive communication was at a bigger level of delay. It was at a 9-12 level. I was a little surprised by that number but not much. Like I said I knew there was a problem. So we are now adding in another therapy once a week (I think). So the grand total is 4 therapies one time a week and one once a month thru January and then we drop the once a month one.  Again I hope you all have a wonderful Thanksgiving.

Sorry it has been a while for an update. We have been REALLY busy. We are coming to our one year anniversary with therapy. In this year I have seen tremendous improvement in Andrew. The biggest being in his physical abilities. When we started Andrew was 11 months. He JUST learned how to crawl and sit on his own. He also didn't have the reflex to catch himself if he fell. Now he is doing so great. We have stopped with the leg braces and now use very supportive shoes. He can walk with confidence and he can run. Boy can he ever run. He had a quick evaluation last week and he will have his formal one for P/T next month but she said that he was at a 20 month level and he is 22 months old.

We did get the call for speech and he will be evaluated tomorrow for that. 

He had his eyes checked again and for sure he will need glasses in a year or two. He also went to the dentist. He has no cavities but he did manage to grind the enamel off two of his upper teeth. I have no idea how that happened. 

Next week we are going for our 6 month (a little late) follow up with the audiologist. 

I hope you all have a happy Thanksgiving. We have a lot to be thankful for.

On a not so good news update

The poor boy has the poops so bad again that it has "burnt" the skin off his tushie and his cheeks are bleeding again. He cries so hard when I change him it is sad. He is pooping at least once a hour and just keeps it from healing. I hope he stops pooping soon. Well not all the way we don't want to go thru what we went thru this summer with him not pooping at all.

P/T

Andrew is doing SO well in P/T we are now going to once a month for November, December and January. In January will be his last time. He has met his P/T goals. As for his leg braces we are going to change them out for new ones. The ones he has now are for low tone and pronation. His low tone is better so he doesn't need them so high up. We will be getting some that go to his ankle for the pronation. This is good news!!!!

Research

I found a doctor in Georgia who is doing research on this gene and others. He is looking at all of Andrew's tests and the next time Andrew gets blood drawn we are going to send him some to do work on. He is studying different variations on the gene. In the process of getting all the information together for him we found out that not all of the testing was completed. The gene specific test was to be done in two tiers. If the first tier was negative (which it was) then the second more in-depth test was to be done. Well, it wasn't. So the genetic councilor was going to call the lab and find out why it wasn't done and have it started. So we are still "technically" not out of the woods  on the gene conformation yet. 

Wonderful news!!

 I have some wonderful news!!! Andrew broke 20 pounds. Not only did he break the 20 pound mark he surpassed it. At his GI app. last week he weighted in at 20 lbs and 10 oz. We were absolutely thrilled to see that. He has been fighting to get this weight on since May. He was almost 20 lbs in May and then he got sick and spent a few days in the hospital. He went down to 18.5. It has taken 4 months to put this weight back on. So we don't have to go back to see the GI until his 2nd birthday. That makes me SO happy. 

With his diagnosis I do need to take him back to the dentist, audiologist and eye doctor just to get everything rechecked. 

Diagnosis

So, two weeks ago we went and saw the geneticist for our follow up appointment. Deep down I knew what she was going to say. I had prepared myself for it. But after we left and on the way home it hit me. My son was just diagnosed with Coffin-Lowry Syndrome. According to everything I have read he will be severely retarded. I was numb for a day or two and then I contacted the CLS parent support group and introduced myself and Andrew to the creator of the group. After a few e-mail back and forth she thinks that he was miss-diagnosed. She said that yes he has many of the features and attributes of the syndrome he doesn't have the "key" ones.  I am trying not to get my hopes up too much that she is right. We are raised to trust and believe out doctors, but she has a son with CLS and had been helping other families for YEARS and knows quit a bit about it. I am so confused. I love Andrew no matter what the diagnosis is.  He is my baby boy. 

A little update.

Andrew is doing REALLY good. His therapies are going great. He has improved tons in his motor skills. He is tolerating his feeding therapy. 

We do go and see the Geneticist next week on the 19th. hopefully she will have something for us, but i am not holding my breath. She did say a lot of time they will NEVER have an answer.

Here is a picture of my smiley boy. Enjoy!

No more summer fun....

So things around her are winding up for the summer. Our schedules are back in to full swing. Owen started the first grade and is in school 9-3:40 four day and 9-2:30 on one day.He is also in soccer 3 times a week and he wants to go back to gymnastics once a week. Audrey is in pre-school 9-12 for two days and gymnastics on  one day. We cant for get Andrew. He is in therapy 3 x's a week and p/t every other week. We will soon be getting an evaluation for speech so that will add one more day into the mix. 

Speaking of Andrew, I took him in for a weight check yesterday and he was up to 19.9. He did just eat so i will call it 19.5. So he is on the gaining upswing. Lets hope he keeps it up. Our goal is to break 20 lbs. 

Strangers are starting to notice his smallness. We were at IHOP the other night and some lady cam up to him said the normal "Oh he is so cute" and then she said,  "What is he about 10 months?" I looks at her and said no he is 18 months and she didn't say any more and left. I am not quite sure how I feel about that yet. Having to answer questions. 

Any way I hope you are all well and had a great summer. Play time is OVER!

Down Hill

So Andrew's weight is slipping again. He was 19.3 a week ago and yesterday he was 18.13. Not good. The good thing is that it FINELY got the attention of his GI doctor and she sent him to the lab for some tests. She had some many boxes checked, they took the max amount of blood you can take from a person of his age and weight. So we will go back and see her in two weeks or sooner if the results show something. Here is a picture to show you how skinny he is getting.

What a few weeks!!!!

Oh my have we ever been busy. It started 2 weeks ago when Owen got sick and then with in a half hour of putting the other two to bed Audrey calls me in her room and she had vomited raman noodles all over her. It looked like someone threw them at her. Travis is giving her a bath and I am cleaning up her bed and Andrew starts throwing up so we put him in the tub and I am cleaning his bed. I hear Travis calling me into the bathroom because Andrew is throwing up ON Audrey. We get them all cleand back up and in bed I go and check on Owen and he threw up all over my bed. So another bath and bed changed. Andrew dry heaved all night so we left him alone but the other two I put a blanket over the couch and they slept there with me in the chair. Till abour 330am if one wasn't throwing up the other was. It was like my house was porlturgisted. They decided to share the flu with me on Wednesday thru Friday. The kids are feeling better but Andrew remains sick. This Monday I brought him to the dr.'s and i finley got his GI dr to listen to me. She had a thearoy and after one x-ray and 4 hours she was right. He was so constipaited that it was pushing up on his tummy and preventing food from going down and forcing it to come up and out. So we gave him a laxitive and nothing. The next day another laxitive, nothing. Today he pooped. About dang time. He is dehydraited and we are trying to keep fluids in him to avoid the hospital. We are to go and see the GI dr again tomorrow and see if we have kept him hydraited enough. If no you know where you can fine me.

On a side note, I called the Genetics Dr to see if any of the results have come in and she said yes that they all have. Drum roll please....................................The micro array came back neg YEAH and the Coffin Lowery also came back neg. Why that doest get a YEAH? She said that the gene for CLS doesn't like to "show it's self" and that it could be a false neg. So we will get re-evaluated with her and she still might give him that diagnosis ut the good thing is in a few years he may "out grow" these symptoms and have the diagnosis removed where as if the test was positive he has it for life. So we are not out of the woods with CLS but the chances have greatly reduced with both of those tests being negative.

Here are a couple of pictures of him on his horse from tonight ENJOY!

VIVA LA EGG!!!!

We had the blood draw for his egg allergy and it came back negitive!!! So look out eggs here we come. To celebrate this joyous occasion we are baking him a cake!!!!

GI Update

He saw his GI Dr. yesterday. I still don't like her but that is beside the point. He was 19 lbs 9 oz. today and she is happy with his growth. She said he is a steady SLOW grower and she is OK with that. She does want me to try and add more fat into his diet and suggested Avocados pureed and Olive Oil in his baby food. She said just by add ing the oil he will increase it was either 150 calories a day of 150 per meal. By then the other two kids had started acting up and I just wanted out of there so my attention was gone. We are rescheduled to see her in 2 months. 

Update.

By now you know we have moved our blog. I can do way more over here. As you can see we even have the cute background. Much better than that lime green I do say so myself. So on with the important stuff.

He started his feeding therapy and HATES IT. He has major oral sensory issues. Hopefully we can get him over that quickly. He had his 15 month doctors appointment today. He is actually 17 months. We are a little late. So we are calling this a combined 15-18 month check up.

His stats.

weight 19 7.5 put him 0.5%

length 29.5 puts him 2%

weight to length ratio 12%.



She was really concerned that he has not gained back his weight from when he was in the hospital in May. he is still less than his May visit with her. Also his height to weight ratio has gone down it should be closer to 50%. He sees his GI Dr. next wednesday. hopefully we will get more answers. she also said that he is starting to hit his 12 month milestones and that is in line with all his therapists.



He did get his other leg brace on monday so i soon as i get pictures i will post them. they look so cute on him. He is very proud of them.


Hear is a picture of him from today eating his otter pop. He loves those dang things.

the therapies are working

was very excited today when Andrew brought me a book and started to use the sign for "open". It was very close to the sign for all done but he is starting to use them and in the proper way. I hope that this will help our communication with him. He still does a lot of growling but it is deffiently tapering off as he explores new sounds. He vocabulary consists of "Daddy" (his al time favorite word), "All done" (it comes out as ah-dah) and "mommy" (which comes out more like nonny). His speech and feeding therapy start on June 27th and I think he will really take off with that.

feeding eval

He had it done two days ago and the verdict is we are adding another therapy to the mix. She said he was delayed in his feeding and speech by 6-9 months just like everything else. She also said that his feeding issues are one of three things. The first is a sensory issue. He doesn't like the feel of the chunks or harder food in his mouth. The second is low muscle tone in his jaw. He doesn't have the strength to do the up and down chewing motion. The third is he has bad memories of food from all of his problems with food about a year ago and associates food with pain. She said we are also going to start speech therapy. So all in all it was a good evaluation and he will be starting in two weeks.

overwhelmed

So I know Andrew is slow. I got that. I know we are going to be needing more therapies. I understand that. But to actually see how far behind he is on paper was a little overwhelming this morning. I got his 6 month evaluation in the mail and was reading it. I was not prepared to see his actual delays written down. So here is the break down. This is with the Infant Development Specialist.



Current age 15 months

Level in december Current skill level Level of delay

Personal & Social 6-9 12 3 month

Cognition 3-6 6-9 with emerging 12 6-9

Communication 3-6 6-9 6-9

Fine motor 6-9 6-9 6-9

Gross Motor 6-9 9-12 with emerging 15 3-6





We are also continuing with P/T. Even tho he met his goals. He still needs help. He has really low muscle tone and needs help strengthening them. As for O/T, we don't get re-evaluated until September. We started with her late.

the story of our life

So at the request of Andrew PT I applied for SSI for Andrew. Well spending two days on the phone with SSI office we are not eligible. Travis make $133.00 a month too much for us to qualify. That is the same amount too much for WIC and all the other things that can help us. They don't care how much money you have going out for his care and bills they just care how much come in. So we are stuck in the middle as the working poor.

the story of our life

So at the request of Andrew PT I applied for SSI for Andrew. Well spending two days on the phone with SSI office we are not eligible. Travis make $133.00 a month too much for us to qualify. That is the same amount too much for WIC and all the other things that can help us. They don't care how much money you have going out for his care and bills they just care how much come in. So we are stuck in the middle as the working poor.

getting better

Andrew came home Tuesday night. He has continued to have occasional vomiting and mild diarrhea. I brought him into the doctors today and she said he is still pretty hydrated which is good. The main concern that she had was his weight. Last month he was 19 lbs 6 oz. When we checked him in to the hospital he was 19 lbs 8 oz and when he checked out he was 20 lbs and 8 oz. The extra pound was water weight from the IV. Today he had dropped to 19 lbs 1 oz. She did not like that he had dropped so much. We have to go back in 2 weeks for a weight check. Fingers crossed he gains SOMETHING. He is getting too skinny

andrews in the hospital

He was pretty sick since Saturday. He started with 103 degree fever and vomiting on Saturday. On Sunday the fever broke and he started with really bad poops and continued the vomiting. On Monday the vomiting stopped by 12:30 but the poops were terrible. So i brought him into the ER by 1:30 pm. We got in to a room around 4 pm and they started an IV and drew blood. His white blood count was high and by 7:30 ish he had still not produced urine. So they decided to admit him. We got into a room by 11 ish and he had a rough night. The poops had stopped and the nurse said the IV was helping with that. We cut his IV dosage back and are trying him on clear liquids. He ate some lunch today and so farhe has kept it down. So, when the dr calls after 5 we will be going home. They are pretty sure it is Rotavirus. So I will be cancelling all his appointments and thearpies this week and rescheduling. Keep him in your thoughts that he gets better soon.

Here is his brace. He really likes it. When we put it on in the morning and he will lift his leg up to put it on. That is the only real help he gives when we are dressing him.



He also took part in the local mall's baby olympics and won gold in the advanced crawler category. Here is a picture that the mall took during the race.

oops i forgot

Andrew can WALK!!! he is up to about 80% walking and 20% crawling. That is so exciting for us. Also his MRI was clear. No tethered spinal cord. Good news. But it still doesn't give us answers. I was hopping for a quick and easy answer.

ENT and other stuff

o we have a touch of good news. Alta Regional center will pay for his formula!!! YEAH! They will give us 3 cases per month. I am going to try for four because he will go thru this faster than the other stuff.

He also saw the ENT last week. He is 2/3's tongue tied. If it would have been caught when he was born they would have snipped it in the hospital. Now that he is older there is no immediate reason to do so. If it impedes his speech with in the year we will schedule him to be put under-again- and have it done. If not then we will wait until he is closer to 5 or 6 and have it done in office with novocaine. He said there was no tongue muscle involved and it is only the skin. It may just stretch out on it's own because skin stretches. So that is a wait and see.

He will require another brace on his left leg. So we go in next week to get the RX for that and it will be about a month again. Granted they don't screw it up again.

He is getting close to his 6 month mark in therapy. He gets reevaluated on June 11th to see if we will continue. He had his P/T reevaluation and se recommends another 6 months because of his low tone and control.

Our Infant development goals were way off. At the time I thought "Oh, Yeah that is no problem those are too easy." Well of the 10 goal she set up for him he has reached 2 1/2 of them. Here were his gaols.

-Finger feed
-Use a spoon
-Drink from a cup
-Say mama and daddy as names
-Play pat-a-cake
-Identify 2 objects and 2 body parts
-Build a tower of 3-4 cubes
-Release ball with slight cast
-Scribble
-Look for hidden object

So of that list he can say mama and daddy and he can drink from a cup (kinda, still pretty messy) and the half i think he does is he knows dog and if you show him pictures he will look at it or look for our dog but he doesn't point to it. So maybe we should call it 2 1/4 of the items completed.


I filed for SSI for him a the request of his P/T she said i should give it a shot. So I got all the paperwork filled out and I need to make an appointment to go in and submit it all and that can take up to 120 days. So we will see.

long time no update

We have been very busy and stressed out here. Andrew’s therapies are moving along. We are seeing many improvements. He is starting to vocalize more than growling. We got him to repeat the “E” sound. In P/T he is doing really well also. He is really trying to walk on his own. He loves to push his walker toy around all over the house. He loves to try and walk back and forth to Travis and I. He loves it.


I took Andrew to the doctors on Monday because I had a theory and it proved right. He is tongue tied. She said he is 2/3’s tied and refereed us to a ENT to see if he needs to get it clipped. Wish us luck on that.


He goes in for his spinal MRI on Monday. They are checking for a tethered spinal cord or any other neural tube defects. Keep him in your thoughts Monday


Now on to our stress.




The insurance company has denied everything we have submitted since September. All his food, all his specialist, the MRI. $14,000 worth of bill have been slowly making their way to our mail box. The sort of good news is that it should just all have to be re-billed with a different diagnosis code and be paid.


Another insurance cripe is they are denying his food. We got the ok to change from infant formula to the next step which is Jr. They are in the process of authorizing it and said it could take up to 30 days. So in the mean time we had to pay $300 for 5 cases of food that will only last about 5 weeks. GULP. Pray the authorize it. The main thing for them is they say it is not medically necessary for him. But it is. He can’t eat anything over stage 2 and a few stage 3 baby food. No table foods. He can’t swallow chunky foods.


The brace place FORGOT to order his brace. I called them on the Monday before our appointment to make sure everything was ok with the insurance and they said yes we will see you on Wednesday. I arrive early wait 20 minutes for our appointment and then they call me back and tell me they don’t have anything for me. I was PISSED!! The rushed the brace and we should have it by tomorrow.


His neurologist ordered the blood test that is one drop and it tell up to 1500 genetic disorders. Well the lab called and said they do not bill insurance and I need to pay them $2000 if I want the test done. I called their office and they are looking into finding a new lab.


And the icing on the cake. I called to confirm his genetics appointment and make sure the CLS test result was in. I left a message with the assistant and she called me back a few hours later and informed me that the lab in fact did loose the test. I was so pissed off. We have to have another blood draw and it will take up to another 16 weeks. I haven’t even gave CLS a second thought in MONTHS and now it is back on the table. On good thing is they can do the same test that his neurologist ordered for free for us. So she was going to call the office and see if she can do it and share results.




So you can see why I have neglected this blog. I am sorry and hope to update it more frequently

Andrew got fitted

We got him fitted for his leg brace today. We should get it in three weeks. We are just waiting for the insurance to autherize it. If not we need to come up with the $700 to pay for it. YIKES. But we have to do what we need to do

We had three big appointments over the last week. First we saw Neurology. He did one blood test that test for 150 genetic disorders with one drop. He wasn't sure why the genetic doctor didn't do this one to begin with. He also ordered a spinal MRI to rule out any neuro tube defects. Mainly a form of Spina Bifida called occult spinal dysraphism. Results to follow.

We also saw the orthopedists. He agreed that he does need a brace. The question is how high to have the brace go. The discussion is do we go to just under the knee or up to his hip. We go monday for a fitting and we will see what they think.

the last appointment was with his gastro doctor. She said we can change him to Neocate Jr. So we are now battling with the ins. company to get it covered.

OMG!

I was supposed to go and see the genetics doctor today and about 10 mins before i was to leave and they called me. She told me that the results of the genetics test has NOT COME BACK YET!! She told me 7-10 buss. day and we are now on 10 weeks!! So I thought we were out of the woods but we are not yet!!!

So we now have O/T started. We had our second day of it today. She said he did really well today. Audrey and i stayed out of the room so that is why he did good. We got the ok to schedule his Neurology and Ortho apps. so we will see the Neuro dr on Tuesday next week. Fingers crossed he does well there. The Dr. I think he will really benifit from is Ortho. If we can get his leg braced and some proper shoes I think we will have a walker in no time.

Sarah

A few more appts out of the way

On Valentines Day we had alot of appointments. Or day started at 7 in the morning with the hearing dr. Andrew did great. He passed. He even heard two more than I did. Then we rushed home to get Audrey to the eye dr and then back home to get Owen and Andrew for their turn with the eye dr. Over all Andrews eyes are healthy. She saw no health conserens for his eyes. She did say that Andrew and Audrey will more than likley need glasses in a few years. Owen also passed but she did see a mild lazy eye and we will follow up with that in a year. If it not better then we will start eye thearpy with him.

Andrew did come down with an ear infection on Friday so we are on another round of anitbiotics for him. We go back today to get him rechecked. Fingers crossed it is gone.

1 yr check up

Andrew had his one year check up today. The visit went really well. There was one step forward. The Doctor was happy that she had not seen him in about three months. That was our largest stretch not seeing her. Now for the stats. He weighed 18 lbs 1.5 oz which puts him at 1.5% on the growth chart and he was 28 inches which put him at 10%. We re-measured him two times because we didn’t believe that he grew that much. This was the most he has ever been on the chart. He got four shots and did really well with them. He only cried for a little bit. Now for the two steps back. She too is concerned about his right foot and the lack of control he has in his feet and legs. He has the strength to stand just having a hard time controlling the position of his foot. His arms also turn in when he crawls. He looks like a bull dog with bowed arms. So we are off to see an Orthopedist and a Neurologist. The Orthopedist will let us know if we need to brace his foot and if he can think of any underlying conditions that could be causing issues and the Neurologist will let us know if there is a delay in his brain telling his feet what to do. So we add two more doctors to our ever growing list of specialist.

Happy Birthday Andrew

Andrew had his first bithday on the sixth. We celebrated by having a little party over the weekend. He got alotof nice things and seemed to enjoy himself. We had his Uriologist appointment lastweek and it went good. They did an ultrasound on his kidneys. They showed that his left kidney is perfect and the right is almost bact to normal. He said it looked a million times better than the day he was born. It did show that his urters ( the tubes that go from the kidneys to the bladder) on his right side are still enlarged. The Dr. said since he has not had an infection since we took him off his meds in May we are not going to put him back on. So we go back in one year to continue follow up care unless he gets a UTI then we will go from there.

His ID theapry is going great. He really like his thearpist and i can see him improving. P/T is another story. He does not like to do the work with her and he is always trying to get away from her. We have noticed over the last few weeks that his right foot turns out 90 degrees when her tries to cruise so we are going to try taping his foot and try and straighten him up that way.

We have not started O/T yet we are still waiting for approval. Still no news is good news on the CLS. I have not heard a yes or no on that test even tho I have called over there 3x's and left messages for them to call me back.

t has been a while so here we go. Andrew had a dentist appointment and he along with the other two are cavitiy free!! Andrew has a U/S on his kidneys today along with a follow up with the Uriologist. So hopefully we can cross one doctor off our list. We have not started O/T yet we are still waiting on that. On the advice of his two therapist we are seeing a hearing doctor. He will get his hearing evaluated because he still growls alot to talk. They will also check for any inner ear deformaties and vestibular disorders because he hates to sit up and he does not do well on the ball. That is scheduled for mid Feb. While we are focused on the head I got him along with the other two all scheduled for eye exams in mid Feb also. I dont forsee any issues there it is just a check up. Andrew will be one next week. It has been a rough ride so far. Hopefully this next year will be smoother.

p/t

Andrew started his P/T on Friday. He did OK. I don't think he will like her as much as the the I/D gal. She plays with him and the P/T makes him work. He got cranky pretty early on with her. He really didn't like the ball she made him sit on. He didn't like it at the O/T evaluation either. So we will see how it goes.

well we did it

We cut his hair!!!! Here is my future rock star!!

OT Evaluation

Andrew had his OT evaluation today. She too recommends therapy for him. So we will be including OT once a week. She wants to work with his balance and his fine motor skills. So hopefully with all of this we should start seeing some improvements soon.

The therapies started

Andrew had his day with the Infant Development Specialist (ID) today. He did really well with her. She is working with him thru play therapy and cause and effect. We are also starting to introduce sign language to him. Today we introduced “no” “ball” “more” and “all done”. She showed me how to do them with him. She did suggest that we get his hearing evaluated. He tends to put his head on the toy that is playing music and she said that could explain why he growls. She said it could be his way of hearing himself. Also when he pounds toys he will put his cheek on the toy/object to feel the vibrations. So I called his pediatrician and our coordinator at Alta to see who will do the evaluation.


The Physical Therapist (PT) called today and we are scheduled for Fridays starting next week. This Friday we have the evaluation with the Occupational Therapist (OT).


No news on the blood test for the Coffin-Lowry Syndrome (CLS). Still waiting.

Merry christmas to me

got the best gift in the world this Christmas. Andrew has started to crawl on all fours. It was the most wonderful sight to see.

Its starting

Ok we got approved for the PT and the Infant development (ID) The ID lady called today and scheduled his weekley thearpy for wednesdays. Then it just hit me WOW this is really happening and holy SH*T here we go. I felt like i wanted to vomit after i hung up the phone. I asked how long are we approved for and she said "well this can go on till he is three so just plan on for a while" It is just all really starting to hit now that every thing is starting go finley go foward.


Sarah

another evaluation

today was with the infant development. She said she got him at a solid 6 months and he is 10.5 months. she said some skills are 3-6 and some 6-9 with a majority at 6 months. She will be comming once a week and will work with him on the cognitive things and some speech. she said she will also start teaching him some sign language to help him communacite better. so we are now PT once week and ID once a week. We get the OT eval after the first of the year.

Update

We saw the Genetics doctor yesterday and here is the verdict. The metabolic panel came back negative, the skeletal disorders came back negative and the Fragile X also came back negative. So we are now doing the “million dollar” test. We are doing a gene specific for Coffin-Lowry Syndrome. She still is leaning toward that because of all the physical attributes he possesses. So I will take him in Monday and have blood drawn and it will take 10-14 working days for results.


His physical therapist called and she is scheduling after the new year so she will call back and we will start after the first.

Andrew is wishing everyone a happy and safe holiday

Early intervention

He did quilfy due to 33% delay in gross motor and communatuin skills. He is 10 months old and Language is comming in at 5.5-7 months Cognitive in at 7-8.5 months and his social at 8.5-10 months. Our plan is PT 30x's over the next 6 months, OT evaluation and do as they recommend and a Infant Specialist evaluation and do as they recommend. So again we wait and she said with X-mas comming up it may take a few weeks to get the PT started. But Yeah they will cover it!!!

mission complete

So today we finely got his urine sample in. After many calls to his Genetic Dr.asking for the lab slip the called me back yesterday and said the sent it over. So today we went and the taped a bag to his privets, and slit a hole in his diaper and pulled the bag thru. It was kind of funny looking. It took all of about 30 minutes and we were done. He actually did really good getting the tape removed from his “goods”. So we wait…….

p/t

he Regional Center called again and they said they can't use the evaluation he had in September. That evaluation was geared more to medical reasons and they need it more towards his capabilites. So when they come out on December she will bring her own P/T and they will re evaluate him here. Fingers crossed.

another appointment

He saw his gastro Dr today and she was happy with his growth so far. She said any less she would have been concerned. on average he is gaining 10 grams a day. This is on a full 27 calorie per oz formula 3-4x days and 3-4 jars of stage 2 or 3 food. the bottels are 6-8 each. He is in the 0.9% for height and 2.2% for weight and 50% height weight ratio. We can not dilute his formula any more because he is useing every calorie he gats and any thicker there is not enough water for him and he gets really constapated.
We also got a call from Alta California Reg. Center today and they are comming out to do a home evaluation on Dec. 5th to see where to go. He is 9.5 months old and for him to qulify he needs to be 1/3 behind. So at 6-7 month old abalities. Which his ped said he was on Monday when we saw her. We are still waiting for P/T and O/T.we had the eval in sept and have not even started yet. AHHHHGGG!!

We are home from Disneyland . We had a really good time. It was nice to get away from it all for a few days.

Well since being home for only two days we have a lot to fill in. I will give the condensed version.

~ First the MRI came back clean. They only thing they found was he had inflamed sinuses and so we treated for a sinus infection.
~Second he had his 9 month check up and his weight is 16 lbs 7 oz and 26 inches tall. That puts him at .9% for height and 2.2% for height.
~Third he is still behind physically. He is physically at a 6-7 month old.
~Fourth we are still tring to get into P/T and O/T. We are trying to get into Alta California Regional Center . They offer free P/T and O/T to qualified children.
~And lastly he has an appointment with the Gastro. Dr. tomorrow. So we will see what she says.


Here are a couple pictures from this weekend.

a break from it all

We are heading out on a family vacation to Disneyland. We are really excited to go and have a good time. To have a weekend of normalcy. When we do get home we have two doctors appointmants next week. The first is with his normal ped. and the second is with the gastro doctor. I will post updates when we get back

Here are a couple pictures of my big boy STANDING!!! Yeah Andrew!!! He is still not sure what to do when he gets there but he is getting there!

halloween

As of today there are still no test results back yet. We did have a blast on Halloween. Andrew was a Scarecrow. His hair matched his costume perfectly. He did only score one piece of candy from the neighbors. He slept most of the time. He is coming down with a little cold so I know he wasn’t feeling up to par. The other kids had a blast running door to door. Owen is already asking when is Halloween again and already thinking about his costume for next year.


Thanks for checking in!

crazy kid

OK so the kid who can not sit on his own and who can not crawl proper is pulling himself up to stand. Yes, that is right the little bugger can pull himself up. When he gets there he doesn’t know what to do. He will either get really frustrated and cry until I rescue him and help him down of he will fall and hit his head. The one bad thing about him standing is the falling. He still does not really have the reflex to catch him self with his arms so he just falls and falls hard. So I am taking that as a good sign.


As for test results, nothing has come in yet. We are still playing the waiting game.

mri today

Andrew had his MRI today and it was one of the longest days so far. We got to the imaging center at 7:30 in the morning and our appointment was at 9 am. The Anesthesiologist got there at 8:45. After 7 attempts to put an IV in him we decided the best thing was to use gas and then find the IV later. So it was off to the hospital to get admitted. At this point Andrew is so upset from hunger and being poked 7 times he is screaming. We go to the surgical ward and wait for another hour because out time for the MRI machine had come and gone. So now it is 11 am and we head back to the MRI center where they begin the scan. The whole scan took 45 minutes and the
Nurse said they got some good images. We had to go back into the hospital to the post surgical ward and wait for the drugs to wear off. That only took about 15 minutes because they kept him in more of a twilight state vs. fully under. So our day that should have only been a few hours took 6 hours. So now we wait……..

mission impossiable

So how do you collect urine from an 8 month old??? I have no clue. The advice we were given from the lab tech was to put his feet in warm water and it would come naturally. Well tried and imagine poor Andrew naked in the kitchen sink Travis is holding him up. We have a bowl of warm water so he can put his hands in it also (help things along) and I am holding the lab cup over his penis waiting for him. We waited for about ten minutes before we gave up. So we will have to try again tomorrow. If not I will have to take him to the lab to have a bag attached and wait until goes then get it that way. AAAGGHHH another trip downtown!

mri

The imaging place called and said they had some cancellations and with his age and diagnosis code she can get him in this Friday. So we get to be at the hospital again at 7:30 for a 9 am MRI. That is one more thing off our list.

awsome news

I just got the call and with all the insurance mix ups his formula is still covered. They were able to get it covered for one year!!!! This is very exciting considering it is $50.00 for a 14oz can of powder. It is nice to get good news every once in a while.

I decided to title this “Straight from the Horses Mouth” just to get things straight and in the open. The game of “telephone” gets played really well in my family and thing ALWAYS get out of hand and misinterpreted. I was also thinking about posting this on my My Space page but not everyone has one. So this is a way for everyone to know whats going on “Straight from the Horses Mouth”


Last Wednesday Andrew had a surgery on his penis called a Chordee repair. A Chordee is where there is more skin on the top and it is a little webbed underneath. So they had to separate it and pull the extra skin down and stitch it up. He also got circumcised that is part of the procedure. If he didn’t get this done he would have erections and sexual difficulties later. It was an outpatient procedure.


Andrew has had a lot of other issues that we have been dealing with one at a time. One of these issues is his physical delays. He is 8 ½ months old and he does not sit on his own. He can not get in to the sitting position on his own and when we do put him in it he will fall over and hit his head. He has not gotten the reflex to catch him self if he does fall. Especially to the back and sides. He is slowly figuring out how to get him self out of the sitting position by going forward and not falling. He does not crawl but man can he army crawl FAST. He favors one side over the other. We will be starting Physical Therapy soon (I hope, insurance issues).


He also has some feeding/swallowing issues and has since birth. We will be getting evaluated by a Occupational Therapist to see if they can help. He had a head Ultra Sound done in May and will be having a MRI in November.


The biggest thing is we saw a Genetic Dr. on Friday. She seamed very nice and spent over an hour with us. We decided to do some more testing to try and rule out a few more things. She did say some time we don’t find out what is wrong with the kids and to try not to get to discouraged. Some of the things we are testing for right now are Metabolic Disorders, Bone Disorders and two other things. The first being Fragile X and the other Coffin-Lowery Syndrome. Both being forms of retardation. So we headed off to get a full body x-ray for the bone disorders, urine and blood for the metabolic disorders and blood for the other two. We will start seeing results from the testing with in three weeks minimum. We go back to see her in eight weeks. She did say that if something did come up on one of the tests we will be seen that day to discuss further options and treatments.


I will up date this blog as soon as the information becomes available to do so. Please check back often.