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We
finally got Jake home from the NICU and had our diagnosis, but we
were very overwhelmed. The doctors and nurses at the hospital
(Winchester Hospital in MA) had NEVER had a baby diagnosed with
LCHAD via NBS and none of them even knew what it was! We
had started doing some research online and at the time there wasn’t
much out there on LCHAD so we had primarily been reading all kinds
of out of date studies which totally freaked us out mostly stating
that the mortality rate was extremely high and all kinds of other
alarming information. By the way Jake’s mutation number
is G1528C (both copies).
A few days after we brought Jake
home from the NICU we saw a Metabolic doctor at Children’s
Hospital in Boston for the first time, Dr. Deborah Marsden. Finally,
someone who knew about LCHAD! She gave us a great explanation of
the disease and its many complications to the metabolism and biochemistry
of the body during acute illness. It was definitely information
overload but at least it was factual current information and there
was a treatment - basically a low-fat diet, frequent feeds and medicine…and
there was hope for a happy, healthy life!
Jake’s story may be a bit
more complicated than most LCHAD cases. He started off being healthy
and not catching any viruses for almost a year, although he was
a very fussy, whiney and difficult baby. He screamed so hard at
times that we thought he was going to go into cardiac arrest or
something (if that’s even possible). He would arch his back,
become rigid and would shake and scream as if he were being tortured
and wanted to jump out of his skin! We later figured out that he
had pretty severe acid reflux and constipation (which many Chiders
have due to low muscle tone) and it took a few months and an upper
GI test to figure out those problems and get him on the right medicines.
Those were a few LONG months of constant crying, vomiting up every
bottle, pooping through every diaper because of the laxatives he
needed in order to move his bowels and sleepless nights to realize
that our bundle of joy was going to be a handful. Our patience was
tested to the limit having such an unhappy baby! For a couple who
waited 5 years after marriage to get pregnant because they weren’t
even sure if they wanted to have a child dealing with all of this
put an incredible strain on our marriage. Not to mention the stress
of dealing with several different doctors every time we didn’t
know what was wrong (Metabolic doc, Pediatrician, GI Doc), not being
able to leave him with a babysitter and eventually not being able
to work. It was also very frustrating that the pediatrician didn’t
know about LCHAD nor did most other doctors because it is so rare,
so the pediatrician and other specialists would often point us back
to the metabolic doctor and vice-a-versa! Once we got Jake on some
meds for the reflux and constipation he was a bit less fussy but
he was still very difficult and much more whiney than most babies
and still had spells of extreme screaming if he went a day or so
without a bowel movement. At one point we even had a massage therapist
come to the house which really seemed to work well and I learned
the technique which I still sometimes use on him today if necessary.
Of course we were always worried if something was going wrong metabolically
that we couldn’t see because he was just so unbelievably fussy,
or if there was anything else wrong with him that we hadn’t
looked into or if he was just colicky.
Fortunately we would see the Metabolic
doctor every month at first and eventually every 3 months to make
sure everything was okay metabolically. We would discuss his nutrition
(he was on a special low-fat formula called Portagen since he couldn’t
metabolize the fat in my breast milk) with the nutritionist and
we would get some blood labs drawn (liver function tests, CK, carnitine
levels, and essential fatty acid levels). His labs always looked
good so at least we knew as far as the LCHAD was concerned he was
doing well and we just kept telling ourselves that some day he wouldn’t
be an unhappy baby anymore!
We
were always very careful not to visit anyone who was sick with anything
worse than a clear runny nose so we kept him healthy for a while.
Then he had his first of many acute illnesses that caused him some
problems. We found out he was allergic to our cat and he got a few
really bad sinus infections (which are very hard to diagnose in
a young baby). Those put him in the hospital a few times before
we figured out what was causing the coughing and vomiting. During
these acute illnesses his liver function and CK levels would be
pretty elevated (usually between 1000-3000). Once we got past that
we had a few months hospital free and then…..he started
vomiting severely every month for seven months in a row (yes
Jake vomited more than any baby I’ve ever known)! In comparing
notes with other FOD parents vomiting is common but not quite like
this. Jake was apparently unlucky enough to also have something
called Cyclical Vomiting Syndrome…what are
the chances! I have actually met one or two other parents of FOD
kids who also have this so perhaps there’s a link but it has
not been proven. This may sound crude but I actually figured out
it was on a cycle because it seemed we were in the hospital every
time my monthly cycle came around! The doctors kept writing it off
as viral and I wasn’t buying it after several months and actually
had to page Jake’s GI doctor while we were admitted at Children’s
in Boston and asked them about CVS which I had heard of in some
of my research on vomiting and another FOD parent had told me about
it at that time as well. I had demanded someone come see Jake immediately
and sure enough he was diagnosed with CVS…a very bad combination
with LCHAD!
Jake’s
last vomiting episode from CVS was in May 2004. Unfortunately it
led to his worst metabolic crisis since birth! He had been
vomiting for about 24 hours, at first not too badly and we were
getting some fluids into him which seemed to be enough to maintain
his blood sugar. It was over night when he took a turn for the worse
and it was hard to tell if he was sleepy or lethargic. When we checked
his blood sugar again it was 11! He looked bad
but not horrible so we thought the glucometer was wrong and made
a HUGE mistake of driving him to the ER (at Children’s Hosp
in Boston) instead of calling 911! It ended up being rush hour morning
traffic as well as a BIG MISTAKE! I gave him sips of milk with cornstarch
in it the whole ride (of course the one time I didn’t have
the glucose paste in his diaper bag this happens) that was probably
the only thing that kept him out of a coma!
When
we got to the ER he was in and out of sleep and became unresponsive.
They had trouble getting an IV into him (as they always do, he has
really tough veins and had had so many IVs that his veins have a
lot of scar tissue in them and don’t work very well for IVs
anymore. They had to give him a shot of Glucagon to keep his sugars
up and it took about an hour of 4 people (doctors, a nurse and an
IV nurse) to get an IV into him anywhere they could stick it. Meantime
his blood sugar was 11 per their glucometer! It
was so horrifying to watch, that image will be in my head as long
as I live along with the worry of whether he was he going to make
it through this and if he did, was he going to have brain damage
from having blood sugar that low! They finally got an IV into his
lower leg by squeezing and pumping his foot and leg repeatedly to
get blood flowing to the vein enough to get the IV in! It was a
metabolic Fellow who got it in ~ she will forever be my hero! Jake
remained pretty unresponsive and lethargic for probably about 15
hours or so and was put into the ICU. It was so scary to see him
laying there barely conscious. I was afraid to leave his side. His
IVs wouldn’t stay in. They kept infiltrating after about 5
hours and we had to go through the same torture to get another one
in. One of the doctors suggested that we put Jake in for surgery
and have a port-a-cath implanted into his chest with
a line going into his heart so that he would no longer need IVs
to be put into his veins, instead they would be easily inserted
into this device by poking through his chest. Of course after just
going through such trauma and still not being out of the woods the
last thing we wanted to hear was the word “surgery”
for anything! But we knew it was this or several times a day of
pinning Jake down while he’s screaming and getting poked over
and over again with failed IV attempts. So although we were very
nervous we went through with it and we are so glad that we did.
It has saved Jake so much trauma with IVs and it’s great for
blood draws too. The only down side is it needs to be flushed by
a visiting nurse once a month with saline and heparin but it’s
very quick and easy.
Anyway, getting back to that hospital
stay he ended up recovering pretty well. It took him several days
to get his strength back and the doctors warned that this may be
a big set back for Jake developmentally if he had sustained any
brain damage from the low blood sugar. The only odd thing that we
noticed right away was he was eating really funny. He was kind of
swishing food around in his mouth and not biting down fully as if
it were the first time he’d ever eaten food before. But he
did get over that within a week or so. It was hard to tell otherwise
because he wasn’t really talking at that point and was already
behind by about a year with his receptive and verbal language. Actually,
surprisingly, shortly after that hospitalization he started talking
and making tons of progress. It was almost as if he had gotten a
kick-start or something. We still haven’t done an MRI to see
if he sustained any brain damage from this episode (or at birth
for that matter) simply because we don’t want to put him under
general anesthesia just for a test right now. He’s been through
way too much for being 2 ½ years old and the risk of general
anesthesia for an LCHAD kid even with a glucose IV in is too risky
for us right now. I do want to do this at some point but we may
wait until he’s old enough to just cooperate for the test
won’t need to be put under general anesthesia.
Since
this last crisis he’s been doing very good except now that
he has been healthy for several months we are focusing heavily on
his speech and occupational therapy. He is FINALLY starting to talk
and is putting a few words together so we are very excited about
that. However he has been doing some odd behavioral things for a
while now. We are trying to figure out if he was doing all
of these things before his bad crisis in May 2004 or after it wondering
if some of this may be due to potential slight brain damage that
may have occurred during his major crisis at birth or in May ’04
or who knows could his developmental issues be because of LCHAD
or some other reason?
He
was always a very fussy and very difficult baby and just never seemed
right. I can’t even explain it but he just didn’t do
much smiling and cooing and typical things that babies do. Now as
a toddler through early intervention therapy they have helped me
figure out what it is that seems so different about Jake to me.
He is very rigid, has trouble transitioning from place to
place / activity to activity, even changing his clothes. He won’t
let me cut his hair, nails (I have to do it in his sleep), changing
his diaper or shirt is a nightmare. He also shakes his head from
side to side really fast a few times a day, spins in circles and
sometimes stares at objects that he is holding a little too close
to his face and stares at them oddly. So recently figured out that
he has some tactile and sensory issues. Given this combination
his pediatrician has diagnosed him with PDD (Pervasive Developmental
Disorder) which falls under the autism spectrum. So yet
another very emotional and stressful time for us in the rollercoaster
ride of life with Jake. We are waiting to see a developmental pediatrician
to confirm this but his speech and occupational therapists agree
that this diagnosis makes sense. We really haven’t had much
of a break, it’s just been one thing after another with him,
from LCHAD to CVS, to developmental issues. Not to mention the strain
on our marriage, it’s definitely tough making time for each
other and letting all of this stress go. Prior to Jake we were boating
and off roading every weekend, now we hardly ever get out for dinner!
So
there you have it! Jake is definitely one of the more complicated
LCHADers having the cyclical vomiting syndrome and PDD. We are trying
to keep positive, it surely is a daily struggle. But he is the most
lovable and sweetest little boy I have ever seen. I think somehow
he knows that he is special and really appreciates the little things
we do for him. He is making progress every day and knock
on wood this is the longest stretch in a while that we’ve
kept him out of the hospital for. I’ve probably made
him sound like a complete invalid, you would actually never
know by looking at him that he has any medical or developmental
issues, you’d have to spend time with him to notice that he’s
“different.”
My two cents on FOD kids
is...
These FOD kids are all very alike but also very different
for various reasons. Some were diagnosed earlier and had
a better chance for a pretty normal and healthy life, some were
diagnosed later after several complications, some have other medical
or developmental issues (which haven’t been proven to be linked
to FODs but lots of parents seem to have similar stories, especially
with developmental delays). If you are reading this and just received
a diagnosis my best advice is to ask lots of questions and talk
to as many FODers or FOD parents that you can. You will find that
unfortunately most Pediatricians and other doctors don’t know
anything about these disorders and the Metabolic doctors are great
but since Metabolism apparently isn’t a very appealing medical
specialty these days these doctors are stretched pretty thin (apparently
they need further schooling than most specialists and don’t
get paid well at all!). I would highly advise joining the
www.fodsupport.org support group and share your story,
make some contacts and read the email posts since many contain excellent
information, especially the ones that come from some medical professionals
on the List.
Michelle Bray
mnbray@comcast.net
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