Gavin
Gavin's
MCADD Story
Gavin
is a fraternal twin to Logan and was born at 34 weeks gestation
on June 4, 2007. From the begining he has had many problems
but alot of them were put off as "prematurity related".
He spent almost 3 weeks in the NICU with his twin for
temperature instability, feeding problems and low blood sugar
as well as low weight gain. 
Once he was home from the NICU we were told he was a
very healthy baby however I argued with them about that.
In
october 2007 he got his first cold which turned into his first
(double) ear infection and things went downhill from there.
He had had constant ear infections and often refused bottles.
We
found out Gavin had the disorder in May 2008 when he was 11
months (to the day). He had been sick with a cold and
hadn't wanted to eat the day before. We woke up that morning
to find him unresponsive. He was rushed to the PICU
at the childrens hospital and they found his sugar to be dangerously
low... 19!
He
was in PICU for 10 days and now, as a result of his sugar
being so low and the seizures that followed, he has moderate
to severe hearing loss in both ears.
At the time of their birth, MCAD wasn't a manditory screening
in Kentucky. From what I have been told, it didn't become
manditory until about 3 weeks AFTER my twins were born. At
that time they had already had their newborn screenings (and
we were told they were good).
From
the begining I knew something was different or wrong with
Gavin.
He had severe projectile throwing up from birth.
One doctor said he has acid reflux and gave him Zantac. Zantac
did nothing for my baby. He then perscribed Prilosec
and suggested adding rice cereal to his bottles to thicken
the feeds and to give him 4 oz every 2 hours (which, looking
back now, I believe that little piece of advice-- to
feed him every 2 hrs during the day, 4 hrs at night-- is what
had kept him thriving thus far!)
Again,
that medication did nothing but hurt our pockets (it
was a compound medication and insurance would not cover it).
I was getting aggravated because my baby then developed
"colic" that seemed to happen 24/7. He
would scream, grunt, cry, and projectile vomit all day
and act like he was in excrutiating pain.
I
switched doctors and he was referred to a pediatric gastrointerologist
who did a endoscopy to see if he had a milk allergy
(he was at the time on NeoSure 22cal formula since he was
premature and low weight).
The
results came back that he had the milk allergy so he
was immediatly switched to Similic Alimentum with rice cereal
still added for thickness. His fussiness went away
and the severity of the projectile throwing up did too
but he still threw up alot, especially after formula feedings
(I noticed it more with his formula feedings verses baby food).
Then,
in February when he was 8 months old he had a real bad
cold and ear infection (which he had had constantly from october
2007 on) and refused to eat much. The next day I woke
up and he was limp and floppy and hard to wake up.
I
took him to the ER and they said he was dehydrated and
his sugar was
"a little low" due to not eating much. They
gave him IV fluids with sugar in it and he perked right up.
They sent us home. On March 17th he received tubes
in his ears to help the ear infections. However,
on May 4, 2008 (11 months old to the day) we had a re-run
of the incident that had happened nearly 3 months earlier...
just worse, and it almost cost our baby boy his life.
On May 3 Gavin didn't want to eat very much, but he would
drink water. We went to bed that night and in the middle
of the night I heard Gavin making what sounded like extended
moans (which we later found out that he was probably having
seizures). I went in to check on him and he looked fine...
he was laying on his back, all stretched out sleeping.
My
husband got up around 7am with our other son, Gavin's twin
(fraternal). Gavin whined when he went in there but
didnt act like he was ready to wake up so I got up and
got Gavin. He layed his head on my shoulder so I brought him
to bed with me and told my Husband that I would be downstairs
when Gavin woke up... thinking it'd be 30 mins or so.
2.5
hrs passed and I had fell asleep. I woke up suddenly
and Gavin was pale and VERY sweaty but cold at the same
time. My pillow case was soaked where he was laying
on it, so was my sheets. I yelled for my husband.
While he was coming up the stairs I was moving Gavin, trying
to get him to wake up. It was at that time I noticed
his lips were a pale blue color but he was breathing, just
VERY shallow.
I
sat on the edge of my bed, holding him. My husband walked
in and asked "whats wrong with Gavin?" I guess he
knew by the way I was holding him. I told him I didnt
know and showed him his limp body. My husband picked
up my cell phone that was on my night stand and called
911.
The
ambulance arrived and the lady told us that he "looked
fine, just a bit sleepy" and had us sign the papers
that said they were not going to transport him. While my husband
was signing those i told him to get the car seats
ready that we were taking him as soon as they left.
The ambulance lady picked Gavin up and sat him on her
knee... his head and shoulders fell back and he was so
limp. Thats when she realized somthin wasn't right and
said to her partner to get the oximeter (until that
point they had done
nothing, just LOOKED at my baby. They didn't check his heartrate
or anything). His o2 levels were 79. She told
me to get my shoes on and they needed to take him to
the truck and get him on oxygen and take him to the ER
and my husband could follow.
Everything
happened so fast after that. We were in the ER at our
local emergency room and the doctor came in and shut
the door behind him.
I knew something was wrong. He had a look of urgency
on his face.
He asked
if there was any one in the household with diabetes.
We told him no. He asked if there was any way Gavin could
have got ahold of diabetes medication. We told him no.
He then told us that they had a ambulance from the Childrens
hospital on its way to transport him beause his sugars were
so low (38 at the time) and that this had happened a few months
ago he wasn't taking any chances, that Gavin was a very sick
baby and needed medical attention that only a childrens hospital
could give him (His pediatrician is affiliated with the childrens
hospital so we are familiar with it, it is also where they
were born and in the NICU).
They
did a spinal tap and redid his sugar and found that it
had dropped even more... dropped to 19. They canceled the
ambulance and had him immediatly taken by helicopter.
When we got to the Children's hospital he was in the
PICU hooked up to more wires and IV's than my heart could
handle and so many doctors had come in to talk to us.
They took alot of blood and gave him a feeding tube.
My baby did not look or act the same. He was so weak
and when he would open his eyes and look at me he just
looked so helpless. He slowly started to get better.
One of his labs came back that he had "Adenovirus"
but they said that virus alone should not have caused his
body THAT much stress.
10 days later we found out that he had this disorder. It took
many sets of labs tests. One set came back abnormal so
they sent it to the Mayo Clinic where they confirmed MCADD.
We were told that we are lucky he is alive today and that
if we hadn't given him the feedings every 2 hours during the
day and 4 hrs at night when he was smaller he wouldnt
have made it this far.
Gavin
is now almost 16 months old and 1 week ago we found out he
has moderate to severe hearing loss in both ears, probably
due to his sugar being so low and the seizures they think
he had during the night.
Despite
all that, he is a happy, healthy energetic little boy
and so full of life. He is on Carnitor 4 times a day
which has helped with his throwing up. We have
a nutritionist who is working on getting a dietary plan to
fit his needs.
He
is on a low-fat / high carb & high Protein, milk and dairy
free (due to milk allergy) diet. In times of illness
when he doesnt want to eat, we have to mix corn starch
in Pedialyte and offer it to him almost repeaditly. Just
looking at Gavin you would never know there is a potentially
silent killer in his body... but that is how MCADD goes.
His
twin does NOT have the disorder. Why it has affected Gavin
and not his twin we will never know, but I am so thankful
that something told me almost immediatly following his birth
that something was not right. I was more aware and cautious
of things. I am also glad that in our state MCADD is
a manditory state newborn screening now.
I
just wish it had always been that way.
