intro - new to group

[Guest guest]

My name is sandra and our journey here started the day my now 12

month old son was born. I had placenta previa and an abruption which

sent me into preterm labor and my water broke. My son was born 15

min later per emergency csection with sever resp issues , blood

loss, hypoglycemic, and in shock. He was transferred to nicu and

spent one month there with recurring bradycardias, was on cpap,

apneas, could not keep temp regulated, had terrible trouble feeding

but could nurse, he had ng tube and feeds were dropped till OT

trained him to bottle feeds to get him off the tube so that he could

come home. From the start had episodes-dont know what else to

call them, he was very sleepy and had no reflexes, hypotonic, and

constantly had to go for weight gain visits, when he got colds he

got very sick and they said it was reflu, went for upper gi to

confirm. started prevacid and then we had to update dose, he

has also had chronic bronchialitis, and then got diagnosed by the

pulmonologist with tracheomalacia( swallowing difficulties from his

cartilage rings in his throat not being fully formed). Everyone kept

saying it was because he was a preemie - 8 weeks early - born at 32

weeks. Then Josh got horrible cough and they started rsv tests,

which they kept repeating cause they would not believe that he did

not have it, then he ended up in hospital cause his oxygen levels

were so low, was out and then we went to neuro and was told that he

had macrocephaly and ordered ct which came back and said that he had

ventricularmegaly of the 2nd and 3rd ventricles and extra fluid on

the brain , during this time he started pt and ot for erbs palsy

which he got from delivery, and they started to note delays and said

that he was on pace for his adjusted age, then at 6 mos he started

falling behind more. He ended up in hosp again for bronchitis, again

with the rsv mess and it was still negative. Josh could not hold his

head up till he was 3 mos old , did not roll over till 6 mos old,

and is now 12 mos old and learning how to crawl and can only sit

when propped for 4-6 minutes. He is not talking either. So they

started speech therapy with him and to help with his feeding as

well. Speech ther said that he has sensory motor dysfunction and

likes deep pressure and is being fitted with weighted vest, he also

was to have surgery for bilateral inguinal hernias, when we went to

neuro again and he gave us test for metabolic disorders and urine

organic acids, said " he looks healthy but it is just something we

do " . He fools everyone cause he is so chunky but he eats every hour

to stay that way, was always my compplaint while nursing him. That

week he got stomach flu and and within 24 hrs he was lethargic, and

then went to colicky the next 24, and then the next 24 he was a

screaming inconsolable lunatic, took him to 3 docs and er, =

nothing, and then I took him to er that his specialists admit from

and they found that his liver and gall bladder were inflamed and his

liver enzymes were through the roof, they actually had to give him

morpheine and he still did not sleep but it did take away the pain

and his temp was 104, hard to tell with his fussing. he got admitted

for the 4th time and was told that prob was hep a , its viral, d/c'd

4 days later and to follow up , called pediatrician for follow up

and she said that she was trying to reach me and that his tests from

neuro came back and that he had elevated ethylmalonic acid levels

and possibly glutaricaciduria and to go to genetics immed , so we

went and we are still here, he has had 4 visits now and his head has

jumped 2 growth curves in month, he is good baby with very painful

fussy episodes, or dazed and his eyes roll back in his head. he has

2-3 of these a day. he is 6 month developmentally and is on carnitor

which seems to be helping him with some of his hypotonia, we are

getting mri in the morning to compare with ct and also to hopefully

yield some clues as to what exactly he has, they say it is scad and

elctron transport chain disorder ( although they dont know what

part) we are waiting for auth from ins for skin biopsy. In the

meantime my oldest dd 9 yo is being tested for carrier, and I have a

3 yo that is getting an epigastric hernia repair from asthma attacks

that she had from pnemonia. It is so stinkin frustrating to not know

what is exactly wrong with josh but have great docs , and am finally

glad to not hear anymore " it is prob cause he was a preemie " . We

got so much peace to hear something different. I feel horrible for

all the pain he has to suffer to get an exact diagnosis- he is a

very hard stick and he freaks when anyone else but family touches

him. I am glad to be here and hope that I can learn something from

yall and am looking forward to meeting you. I know there is more but

i cant remember it all.