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Zack was born early at 36 weeks because my wife Amber
suffered from severe preeclampsia. Zack weighed a normal (for his
gestational age) 5lbs 5oz at the time of his delivery. There were
no complications with the delivery. However, they kept him in the
NICU for a week because he was not able to maintain his body temperature.
Zack also had pneumothorax that went away after a few hours on 100%
oxygen.
Zack was released from
the hospital a week after he was born and came home with us. The
next 3 weeks were full of happiness as I was lucky enough to have
a month paternity leave. When Zack was 3 weeks old he woke
up around 5am and had horrible projectile vomiting.
This continued a few more times over the next hour while I was trying
to get in touch with his pediatrician who told us to go to the emergency
room. Several tests and 24 hours later we were discharged from the
hospital after the doctors told us he was just dehydrated.
Over the next
month Zack's health slowly degraded as he started to throw
up with almost every feeding. Because of the persistent vomiting
Zack had only gained 1 pound since birth at 2 months of age. Also,
around this time Zack became completely lethargic and didn't hold
anything down for almost a day. We rushed him to the emergency
room again.
Doctors weren't exactly
quick with answers during this hospitalization that lasted 5 days.
They ran countless tests ranging from a CT Scan to a Renal Ultrasound.
We did find out that his ammonia and liver enzymes were
elevated. Because of this they started running
tests to determine if he had a metabolic disorder but stopped after
the first one, an organic acid profile which came back
normal, when a urine culture came back positive for a urinary tract
infection. Although our gut instinct told us there was something
else going on I was relieved with this diagnosis since
it wasn't serious. At this point I was naïve and didn’t
question the doctors because I thought they knew everything. However,
Amber wasn't relieved by this diagnosis but we all brushed her concerns
aside. I wish I would have listened to her concerns and demanded
then that the doctors continue the tests to determine if he had
a metabolic disorder. Looking back at pictures of Zack around this
time it is easy to see how sick he looked, definitely not
just a urinary tract infection.
Zack was released from the hospital and was prescribed Zantac for
reflux and an antibiotic to treat his urinary tract infection. Over
the next 1 1/2 months Zack actually showed dramatic improvement
and gained a lot of weight. However, we were still concerned that
there might be something else going on. I don't know why we thought
this because he was acting fine but something just didn't seem right.
Amber was constantly taking
him to the pediatrician because she thought something was going
on. Even though he looked fine he was acting different than
his normal. This was very hard to explain to doctors because he
didn't appear to be sick. Zack's pediatrician ran a blood
test and it showed that he was severely dehydrated which prompted
him to refer us yet again to the local children's hospital.
By now I’d
had enough with the first question that came out of a doctor’s
mouth at the local hospital being “Are you first time parent?”
I realized that they were asking this to determine how credible
our statements should be taken. It was during this trip to the ER
that I demanded a complete metabolic workup be
ordered because 3 trips to a hospital in 4 months wasn’t right.
It also wasn’t right that Zack was almost 5 months and couldn’t
lift his head or roll over and had head lag when you picked him
up. Of course these concerns were blown off after I answered yes
to the first time parent question.
Luckily, with some persuading
from Zack’s WONDERFUL pediatrician, Dr. Kamber, the local
hospital agreed and the tests were ordered. A couple days later
a presumptive positive came back for LCHAD. As
you can tell I’m not that impressed with our local children’s
hospital but I will give them credit for diagnosing him quickly
even though it took quite a bit of persistence to get the labs ordered.
No one at the hospital had ever heard of any FOD especially LCHAD
which appears at a significantly lower occurrence than MCAD. In
fact, when they came in to tell us the lab results the only information
they had on it was what came from an outdated textbook from around
the time LCHAD was discovered. This was very scary because at the
time this was published it was thought that greater than 90% of
children affected by LCHAD would die by age two.
As you can imagine Amber and I were heartbroken. However, after
several days surfing the web, sending multiple e-mails toValerie
Fulton, and frantically making calls to Deb, I learned that this
is only true if they are not diagnosed until severe liver or heart
damage has occurred. Luckily, with Zack, this was not the case.
I also learned that even with heart and liver damage LCHAD can be
managed most of the time through proper diet and constant supervision
by a professional who specializes in FODs.
Nothing else spectacular
happened in this LONG hospitalization (3 weeks) except Zack did
have a g tube placed and a nissen performed. The g tube
has been a huge success however the surgeon failed to inform us
that the nissen can cause something called dumping syndrome in which
the stomach empties much faster than it should. This can cause a
sudden spike in glucose levels which causes the body to produce
too much insulin which drives the glucose down very low. Zack’s
levels were all over the place from less than 20 to over 300! Unfortunately,
the normal treatment for dumping syndrome is eating high fat foods,
which Zack obviously cannot have.
The local geneticist made
a hard effort to try to research LCHAD but it was evident we needed
to find a new doctor after all the trouble we had with the hospital
and the fact that the local geneticist had never treated LCHAD.
After a very long search we found Dr Hainline & Dr Wappner
who practice at Riley Children’s Hospital in Indianapolis,
IN. The difference between the care he was receiving locally
and the care at Riley was night and day. It is amazing there! I
highly recommend this facility. They were even able to accommodate
me with a broadband connection so I was able to work while Zack
was in the hospital at Riley (Ok I am jumping ahead sorry!)
When we first saw Dr Hainline
in September Zack’s LCHAD was still not under control. His
liver functions and CK levels were still high. Also, Zack was going
through the dumping syndrome cycle on a daily basis. His glucose
levels during all this went as low as 20 or 30. Again, this was
happening daily. I know you’re probably wondering
why we didn’t take him to the ER, etc. I want you all to know
that we did. We took Zack to the local hospital 4 or 5 times in
the month after he was diagnosed and called the local geneticist
almost every day. They STILL blew us off even after knowing his
diagnosis. This was a horrible time in our life, we felt
completely helpless and alone. There was no one we could go to for
help and all we wanted to do was help Zack. It brings tears just
thinking about this time. I don’t ever want to go through
something like that again. It was hell.
Needless to say when we
told Dr Hainline about all of this during our September visit all
he could do was shake his head in disbelief. I felt so much better
after this visit and was comforted in the fact that we now had a
place that would help Zack. Because of less than impressive lab
results Dr. Hainline thought it was best to admit Zack to get everything
under control. What was only supposed to be a 3 or 4 day admission
turned into another 3 week admission but it was well worth it. During
this hospitalization at Riley we discovered damage to his heart
caused not by LCHAD but from untreated high blood pressure that
the local hospital did nothing about! Also, the mystery
of his roller coaster like glucose levels were discovered when he
was diagnosed with dumping syndrome.
Are you seeing the theme
here…? I can honestly say the things that cause us
the most problems on a day-to-day basis aren’t even caused
by his LCHAD. They are the things that the local hospital
missed and didn’t treat which became worse (ie. dumping syndrome,
heart damage from untreated hypertension etc.). One thing
I learned from all of this is to always question what you are told.
Even the best doctor doesn’t know all of the answers and you
should always get a second opinion if your gut instinct tells you
to.
However, Dr Hainline,
Dr Wappner and the wonderful staff of Riley Children’s Hospital
have done an awesome job. For the most part Zack’s
labs are normal, the damage to his heart has stabilized and he has
MUCH more energy. With the help of Amber and physical therapists,
Zack is able to physically do most of the things that he should
and he is very advanced mentally.
I now look forward
to Zack being with us for many many years and for his health to
continue to improve under the supervision of Dr Hainline.
We will get through this and I deeply appreciate the support we
have received from the group. Thanks for all that you do and Happy
Holidays and remember, if you know something is going on
and your doctor won’t listen be persistent!
Andy, Amber, and Zack Weedman
LCHAD 9 months
www.lchad.com
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