21 months old! Wheel chair fitting

My little man is now 21 months, today we went for a wheel chair fitting.. Bitter sweet. I know he needs better support than a stroller, he always scoots his butt down then his lower back doesn't touch the stroller, its just not good for his scoliosis. So I was thinking that it would look more like a stroller than a wheelchair. I was wrong. Don't know why its bothering me, but I just feel like when he gets the wheel chair and use it in public its gonna scream "look at me" and then people will wonder why is this little guy in a wheel chair.. I don't know maybe its a reality check that my son has delays and dare I say disabled or handicap. Its just really hitting home that he's not going to out grow this, like so many well meaning people have said to me since he was an infant. I got a comment the last week from a women in a store, she was talking to Gabriel and said " wow look at those thighs, he should be pushing the stroller not in it!" so it sorta pissed me off, don't know why and I said "he cant walk he has a muscle disease" lol for some reason it made me feel better like I was sticking up for my lil man! But then the lady kept on and was saying that she would pray for him.. I know she didn't know anything was wrong with him by him just sitting in the stroller, but the comments are bothering me. If im walking and holding Gabriel, if someone doesn't see his face that hes awake they say, "awww out like a light" or "how cute hes sleeping, or so relaxed" then they realize hes awake and they just look at me weird.. While I'm on a roll, It also really bothers me when people put their 2cents, 3cents, 4cents... in, like asking me all kinds of questions like did you have this test, or this therapy, or blah blah blah..

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..

God grant me the serenity
to accept the things I cannot change;
courage to change the things I can;
and wisdom to know the difference.

nephrology appointment

Today we seen the nephrologist to see if they could give us an answer as to why Gabriel has been urinating white sediment. Over the past 3 months or so it has become very apparent. I have been finding white stuff dried to his skin when I change his diaper. He does this several times a week. Sometimes its so much I can flake it off his skin. I saved some to show the dr.
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...

Yesterday I got a call from the neuro's office, the nurse told me his biopsy came back and hes negative for myotonic dystrophy. This is a type of congenital myopathy the dr thought he may have. I was confused. I told the nurse that the biopsy was pending the mitochondrial test not the myotonic dystrophy, that this was a blood test. She told me no, that the myotonic dystrophy test was with the biopsy. Then after I still questioned this, and asked what the result of the mito test was, she said she would check and call me back..
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!

Little man has learned how to clap in the last few weeks and boy does he like to show it off! I'm so proud every time he learns something new, its so exciting. I never would have thought that each milestone that baby's reach would be so exciting and anxiously anticipated. With my other 3 children each milestone was reached right on time, like textbook. I guess we just take all these little things for granted. Gabriel has helped me realize we need to take a step back and be patient, each child is different and will reach there milestones when there good and ready.. Of course  a little therapy doesn't hurt, lol.
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

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!

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.