Introduction...looking for info

[Guest guest]

Hi there

My name is Deb and my hubby and I have adopted four children with various

special needs. All of our boys have ended up having more issues than we

originally realized so we are always needing new info and learning new things.

Our oldest son, , would be 9 now, but he died two years ago with

Mitochondrial disease (a surprise after just being delayed from being

drug-exposed).

Our second son, just turned 7. Gaige was dxed with High Functioning autism

years ago, however, in May 2005, he passed out on us and we found out he had

hypoglycemia. We started seeing endocrine and they realized he is in

precocious puberty, which is very rare in boys. Our geneticist now thinks that

he

has a rare endocrine disease called Berardinelli-Seip syndrome which is a

lipodystrophy and only 1 in 12 million affected. Its so rare, its hardly worth

mentioning but I thought I would because some of you who have been on the list

for years maybe ran across another parent along the way...and I would LOVE

to talk with them.

Our daughter, Bliss, will be 5 in April. She had a traumatic birth and was

diagnosed with Cerebral Palsy. We were told she may not walk or talk but you

would NEVER know anything was wrong with her...thanks to a lot of early

intervention! She has some residual issues with her heel cords being tight and

so forth but she is truly a miracle (and a delight to all who meet her! )

Our little guy, True, is the one who brings me here. He turned 1 last week.

He has a strange myriad of special needs that include neuromotor disorder

(mild cerebral palsy), dysphasia, undiagnosed GI issues, severe and

innumerable food allergies and a few more.

We live in Memphis, and were going to Vanderbilt (in Nashville, 3 hours

away) to see if the GI docs there could confirm what his allergist and others

have suspected here...that he has an Eosinophilic GI disease. He was having an

endoscopy and colonoscopy and we had to do a full cleanout. So he went 24

hours prior with pedialyte only and then nothing for the 6 hours before his

2:30p procedure in the OR. When they got in there they found ulcers and its

going to be a logn process with many repeat biopsies to get the EGID diagnosis

we went for...but then what happened...it complicates everything.

When we got home from Nashville the next afternoon, the phone was ringing.

They said True's blood sugar had dropped to 24! His CO2 level was 10! They

wanted us to go for repeat labs right away. They thought it must have been

an error since he would have been unconscience and then I freaked them out

when I told them that when the anesthesia nurse came to get him, he was already

asleep...or so we thought...wihtout anesthesia! So apparently I was holding

my unconscience baby without knowing it...and had they been running late? I

shudder to think what could have happened.

He was doing fine that next day but not back to his baseline. The next

morning, he refused to eat, was lethargic and lifeless. I took his blood sugar

with my son's glucometer and it was over 100. I called the pedi and they told

me to call an ambulance...when they checked it, his blood sugar was 31!!!

So we were admitted through endocrine and they ran a few studies. However,

since he was treatede with D25 on the ambulance he said they didn't have much

hope of getting a dx this time around but would follow up.

Then this week (just ten days after the first time) he vomitted at

3am...totally out fo the blue...and the only time he did it. Then at 1p the

next day

he crashed! I took his blood sugar and got readings that said LO, 18 and

then the next time 112...we still don't know hwo to explain that. I took him

to

the ER and they c heck the machine and it was fine. However, they kept us

for two days and checked it every two hours. He still eats frequently becaus

eof his GI issues...32 oz of an amino-acid based formula 7 times a day but he

was dropping after 3 hours at night...into the 60s.

so they have discharged us, ran a bunch more labs...we see them in a

month...monitoring blood sugars and feeding every three hours aroudn the

clock...yuck! He had a 52 last night but seems to be getting back on his feet.

They

also diagnosed him with 'short stature for (help me out--fancy word for

parental) height " . HIs birthparents were 5.7 and 6.4!

He has stayed just above 20th% for height but they said given he had tall

parents that the 20% is way more generous than it should be. For weight he is

around 15%. His head size is 67% though which is odd to me but no one else.

He still wears a 6-9 mo size quite comfortably.

Anyway, they are looking for a growth problem, but I was reading the Magic

foundations' newsletter and decided to look RSS, so I am here. There seems to

be a lot of things he has but others notsomuch Sorry to be so

longwinded...I could have said more but was trying to keep it brief. He's

quite

complicated and this makes him way more so.

Any imput with similar stories or advice is quite welcomed!

deb...mom to four fab adopted kiddos... (07.04.96-05.26.03) with

Mitochondrial Myopathy...G, 6, with High Functioning Autism, Hypoglycemia and

Precocious Puberty...B, 4, with VERY mild Cerebral Palsy...and True 1yo, with

Neuromotor Disorder, Hypoglycemia, Myoclonus, Plagiocephaly with assymeterical

face, ulcers, undiagnosed GI problems plus severe food allergies (Eggs,

Peanut, Milk, Soy, Corn, Rice, Oats and Crab/Neocate-only), Plagiocephaly and

Dysphagia....Married for 12 years to F--one swell guy!_

www.caringbridge.org/tn/wells/_ (http://www.caringbridge.org/tn/wells/)

(http://www.lifeofloveproject.org/)