Gabriel was born 10/12/09, 6lb 4oz baby boy. He is my 4th and last child, this is the story of my lil man.
Friday, December 16, 2011
26 months
Saturday, August 27, 2011
Wheel chair has arrived!
Friday, July 15, 2011
21 months old! Wheel chair fitting
Guess I'm venting a bit, its been a stressful past month.. But Gabriel is doing good (knock on wood), hes a happy chubby little guy and just an absolute joy. I thank god that although he has poor muscle tone, he doesn't seem to have any other issues, like with his organs and such. Feeding is also getting better, hes more willing to try new foods, though he doesn't eat much of it, he is trying, so for this I'm very happy!
BTW the wheel chair will take about 4-8wks to get, maybe I will be more prepared for it by the time it arrives..
to accept the things I cannot change;
courage to change the things I can;
and wisdom to know the difference.
Friday, May 20, 2011
nephrology appointment
She told me that sometimes this can be normal to urinate crystals, but she would need to analyze his urine to see if this is crystals or stones or uric acid.. So she sent us home with an urine collection kit, I will collect Sunday night then send to the lab Monday. We will also be sending the white stuff I collected off his skin. She said the results would take about a week, but believe me I will not be holding my breath. According to what she finds will determine the next step, which would probably be a renal ultrasound.
I'll try to keep posting as new results come in.
Diagnosis still pending...
So the nurse called back in about 10 minutes, hmm, I was right (as usual lol). The myotonic dystrophy was the blood test, she said that this is negitive, and she found the finalized results of the muscle biopsy and the results for the mitochondrial test was back. She said she would have to talk it over with the dr before she could give me the results. Of course the dr is in surgery all day so she would have to call me back tomorrow.
I asked if she could just read me the results from the report, she wouldn't have to explain what they mean. So said sorry she couldn't.. So I anxiously awaited for her to call today. I decided to give her a call at 2:32pm, guess what the freakin answering service picked up, the office closes at 2:30pm! I was so upset to say the least. So I tried a last ditch effort and call the general ped office, talked with the nurse, she was sorry to say that there access to the All Children's website would be down until Monday afternoon.
So you know I'm going to be calling bright and early Monday to get some answers.. Just a hunch, but I'm guessing he does have the mitochondrial related congenital myopathy since the nurse was so adamant she had to the Dr before giving me the results..
And so the wait continues...
clap clap clap your hands!
Another thing I noticed is that now he is getting better at putting his binki in his mouth, I was really wondering how he did it.. For instance, he would be laying in the bed, binki near by, but not in his mouth. So I watched how he did it one day. He would randomly pick it up, put it to his mouth, and like the first 20 times he would have it the wrong way, so he would bang the plastic back to his teeth, realize its not right, drop it down on the bed and pick it back up and put it to his mouth. He would do this repeatedly until he got it right! You could see how proud he was, he will chew the binki back and forth and smile to show off like "Look Mama look what I can do!". He is was patient little man, rarely gets frustrated when he is doing things himself, like playing with toys. But I you try to make him do something, oh man does he get mad, and he'll let you know it lol!
Heres a link to the you tube video of him clapping, so cute!
http://youtu.be/9TNs-y5yWCI
Wednesday, May 4, 2011
New benik vest
Finally got his vest to help his posture, and got the shorts to go with, this will help him from keeping his legs wide open, and he got the soft splints.... love them all! He seems to enjoy them too! He's got the best therapists around, I always look forward to wed, his therapy day!
Diagnosis..
Last week we had our appointment with the neurologist. He seemed excited to see us, the dr didn't even wait for the nurse to take us back, he came out to the waiting room to get us. When we got to the room he started to explain that Gabriel has "congenital myopathy". He said there are 7 different types, and he has gabriel narrowed down to 2. Mitochondrial related or a type of muscular dystrophy, but its not like the typical muscular dystrophy in the way its not degenritive. So the news sounds pretty good to me. I asked what's his prognosis is, dr said its hard to determine, in his 20+ yrs of practice he seen about 12 cases. They vary widely, from very mild disability to severly handicap, non-verbal and non-ambulatory. But Gabriel is very social and babbling and trying to communicate by waving and shaking his head no, so were very hopeful Gabriel will not be severe.. so now its a waiting game again for the pending results to see what type he has, about another month of waiting. But I have to say I am breathing much easier now, and will be patient.
Also the same day we had a repeat video swallow, way over due. Found out he was still aspirating, not suprised, but also silently aspirating on the consistantcy I was feeding him. Thank god he never had aspiration pneumonia. Very scary to find this out. So we are just adding more oatmeal to his pediasure bottles during the day, and he still gets the tube feed over night. Gabby has been doing really well with taking his bottles and not needing tube feeding during the day, now we need to get him to take more baby food in, ahhh one step at a time..
So anyways my little man is doing just fine! I love him sooo much!
Tuesday, April 26, 2011
18 months old!
Lil man is now 18 months. Tomorrow we go to neuro appt to get the muscle biopsy results. I've been o~so patiently waiting for, I'm hopeful we will get some answers, but not holding my breath..
I'm very proud to say that in the past few weeks Gabriel has learned a few more "tricks" lol. He now can wave bye or hi, shake his head no in response to someone saying no or if he's not happy, aaannnnddd (drum roll please!) He is beging to move in his gait trainer, only backwards, but I'll take that!
Also on our adgenda tomorrow is a video swallow.. I don't think much has changed since the last one 9m ago (were 3 months late), been a bit busy.
List of things I need to do~ make appt with eye dr, to see if he has vision problems that's why he keeps his head cocked to the side and is scared of round things. Get him into the wheelchair clinic at shriners. Find out more about the happy mealtime program at all childrens and see if its something we should do..
Got my plate full as usual, I'll update tomorrow hopefully with some answers.
Tuesday, April 12, 2011
18 months!
Were still waiting on the muscle biopsy results.. Not much to say about that but just that im so frustrated at waiting forever for test results. But the site healed up nicely, so thats a big plus.
On the down side, Gabriel has been sick the past week. The older kids caught a bug and then he got it. Started with vomiting then diarhhea, now its moving to his chest, and has a gunky cough and runny nose. He hasnt had any respiratory problems since he had pneumonia in early dec 10. Ive been told by the pulmonologist that he has a floppy air way and if he gets any respiratory illness we should watch him close. So that is what I will do. The cough started today, so I hope it wont get much worse. Hes been happy today, just still not eating as much as he should, and not even able to digest what he should take in. He's still spitting up quite a bit.. But keeping clear liquids down via gtube..
Hopefully I will have better news on my next post..
Sunday, April 3, 2011
Busch gardens
This is the first time Gabby went to busch gardens. I want to include him with the other kids but sometimes it can be very difficult. His sensory issues really stress him out. All the loud noises today kept him pretty upset, he cried a lot and trashed his body too. The costers and music were very loud. Also the train ride around the park, he freaked everytime the announcer would say something over the speaker, which was like every 2 seconds. He did ok with the water area. I sat him wth me on the ground by a water spout, he let me put his feet in and he didn't cry.
I think next time we go we will put ear plugs in his ears or headphones like in therapy, to dround out all the sound.
But my lil man did manage to take a long nap with al the noise.
One funny thing that happened is a man walking by seen gabriel sleeping in the stroller, and noticed the scar on his leg. (Gabriel was wearing a t-shirt and diaper, this is after we played in the water) and he asked if he was having a mitochondrial test. I said yes that this is the scar from his biopsy a wek and a half ago. I said how did you know? He told me his daughter had the same test when she was about 5 months old, she is now 8yrs old, and looked like an adverage kid. He told me his daughter didn't sit until 2 yrs old and walked around 4yrs. He also said all the blood work that was done on his daughter was normal, the biopsy is what gave them the diagnosis. He told me they live in atlanta Ga, and they have the nations best mitochondral dr there. I feel very encouraged to think that maybe one day Gabriel will be able to walk and make progress. I think its so neat how someone can look at a babys leg, see a scar, and they remember what they went through with there own child, and are open to talking with a complete stranger... I hate for anyone to have to go through difficult times with there child, and id be lying if I said I never say "why me" every once in a while, but I do find comfort in knowing I'm not alone, and I do feel very fortunate I have such a beautiful family and friends...
Friday, March 25, 2011
Muscle Biopsy part 2
So the wait is on..Doctor said it would take a week or two to get the results.. Although I don't want anything wrong with my baby, I know there is, and I just want some answers, I really hope the biopsy can lead us in the right direction..
Friday, March 18, 2011
USF physical therapy
I brought my gang with me, and they got to stay in a classroom next door and watch a movie and write on the white board. Its spring break so they didn't want to stay home, I don't blame them..
Just wanted to share our special day.
Tuesday, March 15, 2011
Pitty Party!
When Gabriel was 6 months old and floppy and unable to sit, and under weight, and aspirating...I would always get "he'll grow out of it, he's a late bloomer". Now I don't get these comments anymore, its too apparent that this is not true. I accept him exactly how he is, I cant express how much I love him, I just wish people can see what I see in him, and I wish I didn't have to explain ten million times what is wrong with him, why I dont have a diagnosis, and then the person give me there well meaned two cents... I guess im getting exhausted..
I have to say I dont cry much, but I did cry today after I left babys-r-us..This is not the life I expected, this is not the life I planned, but im so fortunate Gabriel is my son, and he choose me to be his Mommy..
muscle biopsy
While I was at All Childrens today I decided to pick up copies of labs from when Gariel was in the hospital with the abcess last month. Cause they did a urine look for cystine to check for hypotonia cystinuria syndrome. My great and wonderful friend Kelly researched this and found that Gabriel has almost all the symptoms. I looked up this disorder too, and couldnt find too much about it. Its a very rare disorder, but worth looking into. I was told by the ped that Gabriels urine was not consistent with the disorder. But I looked at the lab results and Gabriel does have cystine in his urine, but hardly elevated. Reference range is 0.03-0.15, and Gabriels was 0.16, im not sure how high it needs to be to be a positive for the disorder, but I definitely think it should be rechecked with a strieght cath or 24 hour urine. This is something I will be bringing up after the muscle biopsy. Another thing, that may or may not matter is that in every urine Gabriel has had done, there has been amorphous crystals in his urine..The docs say that this is normal, im just say'n.
To top everything off, my little mans scoliosis is getting worse, I dont even like to look at his back with his shirt off, it scares me too much! We have his first appointment with ortho in 2 weeks, we'll see if he needs a brace or a wheelchair, or what we need to do so this wont get worse..
Friday, March 11, 2011
Skype!
Tuesday, March 1, 2011
Busy Day!!
What a day! I will list the sequence of events..
630am get up to pick up my friends kids, my turn to babysit
715am back home
815-930am dr appointment for Gabriel to check up on his abscess, its still there, still needs packing, and still has two really firm areas, that possibly needs draining.
1010am arrive 10 mins late for a playgroup for kids that have disabilities, it was the first time going, it was at a private gymnasium, the kids absolutely loved it! They were sweating and asking for water when they were done, and as in kids I mean my 3yr old son, 3yr old nephew and almost 3yr old & 15month old friends kids, Gabby enjoyed watching the kids play, and laughing, he also enjoyed when they blew bubbles with a fan, Gabriel kept trying to hit the bubbles while lying on the ground, so cute.
1200noon lunch at mcdonalds, 1.99$ happy meal day, need I say more..
0100pm driving home from mcdonalds all the kids fell asleep.
0130pm picked up my husband to sit in the truck while I go into target to get a few things
0230pm checking out at target, seen one of my great friends I haven't seen in a few weeks, made plans to go to the park later.
0300pm back at home, kids awake now, I organized some things and went through a ton of clothes to sell at Angie's moms yard sale this weekend.
0500pm at sims park, the kids favorite, got a few more kids in tow, my 11yr old daughter and 9yr old niece, so my 8 seater expedition was full! 5 carseats, and a umbrella stroller in the back, but the girls really do help out alot, and this park is big, everything built from wood, soooo nice! Rachael came up with Soren a few mins after we got there. The kids had a blast!
0630pm my daughter talks us into getting icecream at the cute icecream shop across the street, they are right on the canal and have a wonderful back yard with tables and chairs, and a dock.
0700pm packing up to drive home, kids got school tomorrow and haven't even had dinner before there icecream. My friends husband just got his kids once we were done with the icecream. Noticed my friend Racheal left her cup in the stroller, so I stopped by her house to drop it off, she lives a few blocks from the park. My daughter was running the cup to the door, guess Racheal didn't hear her knock, cause her son Soren answered the door, then the dog came running and barking at Elizabeth, she screamed the loudest blood curdling scream! As the dog stood there laughing, im pretty sure her dog was laughing! and waggin her tail! So after all this, Rachael and I shoot the shit for another 30 mins,..
0745pm Home, dinner was ready, fed the kids quick, then baths..
0900pm Finally check my FB page!!
0940pm scarred the bajesus out of Gabriel, him and I were at the computer and apparently I choked on my own saliva, and started to cough like crazy, he started crying and yelling, sounded like his scared cry, poor kid.
0957pm still sitting here at the computer Gabriel sitting on my lap sleeping, hoping to skype for the first time, with my friend Jamie, her little girl is special just like my little boy! I was hoping Gabriel would be awake, but im not going to wake him, but I cant guarantee I wont cough! LOL
1000pm Good night!
Saturday, February 26, 2011
Introduction
Gabriel is 16 months now, he just got out of the hospital 4 days ago, he was there for 11 days cause he has an abcsess on his rear. Had 2 surgrys to drain it, and alot of IV antibiotics. His wound care is done by me at home, I really dont like to do it I hate to inflict pain on anyone, especially my baby. Im going to stay off of work until the wound heals. So it may be up to another week, but I really enjoy all the one on one time we get!
Currently Gabriel goes to physical therapy 2x week, occupational therapy 1x week and feeding therapy 1x per week. Gabriel is starting to sit supported, can roll side to side, cant crawl, stand or walk yet. He loved his therapy swing until we came back from the hospital. He now has a phobia of round thing, almost anything round, he flips, starts yelling and screaming and arching his back. We are unsure why he has these phobias. As far as eating goes, he takes 2 eight oz bottles of pediasure thickend during the day, and pediasure with water 500mls over night via g-tube, we offer baby food every day but he gags as if he is going to vomit. I believe this is another one of his sensory issues.