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We
have a six-month-old son, Jake, who has been diagnosed with LCHAD.
Jake was born on April 17, 2002 and very ill within 24 hours
of birth without explanation. Our first shock was his size at
birth. He was born at only 5lbs 13oz and 17½" long.
Also my placenta was matured to the point where it may not have
been functioning any longer (so Jake may have been heavier but actually
lost weight at the end of the pregnancy from not being nourished).
We had expected he would be an average sized baby since I did everything
right throughout the pregnancy and was in good health (no signs
of HELLP).
Then when
Jake came to the postpartum room with me the nurse noticed that
his temperature was low. No matter how much we tried to keep him
warm his temperature wouldn't stay up. The nurse suggested he stay
in the nursery under the warming lamps until he can stay warm on
his own. I was only able to bring him to my room for 20 minutes
at a time to nurse him. Then I was extremely frustrated because
I was trying to nurse and he wasn't getting the hang of it very
well and he was too lethargic to stay awake long enough to eat
and now I'm watching the clock because I have to hurry up and
get him back to the nursery! This is our first child and I have
no prior experience with babies (I'd never even changed a diaper
before Jake was born ~ what a way to start out!) so I was a bit
nervous to begin with because I wanted to make sure I did everything
right. Although Jake seemed so exhausted, he wouldn't fall into
a restful sleep and was sort of moaning non-stop. As much as I wanted
to breastfeed I was getting concerned that several hours had passed
by since birth and he hadn't had anything to eat (probably at
least 15 hours after birth).
I then asked
the breastfeeding consultant for a bottle so he would eat something.
But she told me "if I was serious about breastfeeding that
I shouldn't give him a bottle at all at this stage" and that
he had plenty of food in him from being inside me!
Well not
long after that Jake ended up being admitted into the Neonatal
Intensive Care Nursery for hypothermia. Of course after that
I never rested the entire time I was in postpartum because I was
so worried and constantly visiting Jake in the NICU (it's just amazing
how quickly the mothering instinct takes over and the baby becomes
the most important thing in your life). Of course the one time I
fell asleep for a few hours at night I went to check on him at about
3am and they told me that he was having a rough night and his
blood sugars kept dropping down dangerously low and at one point
had gone down as low as 23 (sound familiar)! Then because of
the hypothermia and the hypoglycemia he ended up with hypertension!
You could tell by watching him breathe so rapidly that something
was wrong. He looked terrible because he had so many wires connected
to him. He just seemed to be helpless. Of course not expecting any
of this or knowing what was wrong I was completely freaked out but
they were telling me "Don't worry…alot of babies have
these problems when they are born at a low birth weight."
Fortunately,
we had decided to participate in the Newborn Screening Test (THANK
GOD!!!). We had actually forgotten about that test because the
nurses told us that they had never had one of those tests come back
positive at that hospital. Meantime, he underwent several tests
(i.e., EKG, ultrasound on liver, all kinds of blood tests) trying
to determine what was wrong. A few days had gone by and Jake was
having good days and bad days. He was actually showing progress
for three days straight and we were told that we were going to be
able to take him home...or so we thought!
Nothing was more devastating than going to the hospital with intentions
of taking him home that day and as we were literally on our way
out the door with him a phone call came in telling the Neonatologist
that Jake's Newborn Screening Test had came back with a red flag
raised!!! We were then told that he was going to need to remain
in the hospital while they re-ran the test. Meantime, they had shown
us the list of rare diseases that the Newborn Screening can test
for and a brief summary of each ~ of course one case sounded worse
than the next, none looking good. They were telling us that Jake
may need to be sent to a hospital further away if he has one of
these disorders because they didn't know how to deal with any of
these diagnoses!
Although
we knew we might be close to a diagnosis now we were almost even
more worried! Needless to say, about a week after birth Jake
was diagnosed with LCHAD! Unfortunately, nobody in the entire
Neonatal ward had ever even heard of this and the doctors were graciously
printing us information off the internet but really couldn't explain
much about it or about Jake's long term quality of life! Thankfully,
we were finally able to take Jake home 10 days after birth.
One of the Neonatologists at the Hospital got us in touch with a
wonderful Metabolic Doctor at Children's Hospital in Boston, Dr
Deborah Marsden. Dr Marsden contacted us at home immediately and
explained alot to us about LCHAD and put our mind at a little more
ease knowing that somebody actually knows about this disease and
for the most part it can be treated. Thankfully since under Dr Marsden's
care Jake has been in great health (although we are always "knocking
on wood")! Because Jake was diagnosed so early, Dr. Marsden
expects that he won't have too many "episodes" other than
possibly ones during periods of sickness and should be able to lead
a pretty normal and healthy life...we just hope so.
One thing that we see with Jake that sounds familiar in many
of your stories is he throws up an awful lot. Also not so common
in your stories he has is severe gas pains and trouble going to
the bathroom (he only has a bowel movement every 7-10 days)! When
we first took him home we were very concerned because he was
just projectile vomiting at least half of his bottle with every
feeding! I felt like all I did was feed him and re-feed him.
He was extremely colicky for three months which I now think was
related to acid reflux. We put him on Zantac at three months and
he's been like a whole new baby ever since and is very happy most
of the time. He has been through an Upper GI that appeared normal.
His GI Dr had us also put him on Reglan to help his stomach empty
out faster (the Zantac only helps with the burning of acid reflux
and heartburn but it doesn't stop the vomiting). We took him off
of the Reglan after just a few days because we didn't feel comfortable
with his stomach being emptied out too quickly with his fasting
issues even though his Metabolic Doctor said it should be okay.
Also the potential side affects didn't sound too good and we'd just
rather him not be on too many medicines at this young age.
As far as his diet goes he is on Carnitor® (1cc 1x/day)
and is on the Portagen formula exclusively. We add 1¼tsp
of Canola Oil to each batch of formula (28oz water and 1cup
of Portagen powder). I also give him rice cereal, oatmeal and all
of the stage one fruits and vegetables. We do not have a feeding
tube for him. We hope to be able to avoid that but we will have
to see what his fasting tolerance is when he gets a bit older and
we will see how he does when he gets sick. He recently had his first
cold and was such a trooper and didn't have any issues. Right now
I feed him every 4 hours during the day and every 5-6 hours at night.
Of course every time Jake has a really fussy day we worry so much
that something could be going on inside that little body that we
can't see. We do have a glucometer but I have a hard time
using it by myself most of the time (It's the Accu Check Active,
I'm open to suggestions on one that's easier to use on an infant),
I think it's just going to take more practice. Another thing
we really worry about is the possibility of Jake getting Retinitis
Pigmentosa, which I understand some LCHADers may have the potential
for having in the future. There is a funny coincidence that my husband's
father, two uncles and grandfather all have RP and were legally
blind by about age 40! To boot my husband and I both had severe
nearsightedness and astigmatisms in both eyes to the point that
we were legally blind without eyeglasses! Fortunately ours was correctible
with glasses but we both recently had LASIC surgery to correct it
and now have 20/20 vision (I don't believe this surgery can help
with RP though). So I feel that if any of this bad vision is inheritable
poor Jake's eyes may be doomed!
I guess the hardest thing now is for one, dealing with his other
doctors. His Pediatrician and other specialists (his GI Specialist
and Ophthalmologist) have never even heard of LCHAD. Every recommendation
by those doctors has to be run by the Metabolic Dr. Then there's
the babysitting issue, we of course don't feel very comfortable
leaving him with anyone besides my parents who live very close to
us and have a pretty good understanding of LCHAD and Jake's daily
schedule and habits now. Fortunately, I'm taking a year off work
to be home with Jake. Another life change is it looks like when
I do go back to work, I'm going to need to only work part-time so
I can be home to cook healthy meals for Jake and have some extra
time to spend with him if he has any developmental issues and for
doctor appointments. Then there is the daycare concern. Although
I think we are going to be lucky there, it looks like my mom and
perhaps a close friend are going to watch Jake when I do go back
to work so I won't have to worry about putting him in a large daycare
that's filled with lot's of germs. So as many of you can probably
relate, I am exhausted most of the time between the frequent feeding
schedule during the day and overnight and the extra care that he
needs and all the time I spend on the internet reading about this
and contacting people with questions etc. Another hard thing is
we have decided that Jake is going to be our only child because
we don't want to risk having another child with LCHAD. We never
know what complications may be ahead. But it's definitely all worth
it…we love our little guy more than life itself and we wouldn't
trade him for anything…LCHAD or not!
We have read
many of your stories and are so sorry to hear about some of the
horrible things your families have endured with these FODs. We
really do realize just how lucky we are that Jake was diagnosed
so early. We truly feel that we owe Jake's life and good
health to the Newborn Screening Test and Dr. Marsden! Feel free
to contact us if you have any questions for us or if we can be of
assistance in any way. We are eager to get in contact with other
LCHAD families, particularly anyone locally as we still have lots
of questions and concerns. Also since we are just recently new to
this website (Oct 2002), we would be interested in hearing about
any test studies that are currently underway specific to LCHAD and
RP and may be interested in participating in some with Jake (I realize
some of these are listed on the site ~ we haven't had time to look
at them in detail yet). Our thoughts and prayers are with you and
your families. Stay strong!
Ron and Michelle Bray
Parents of Jake Bray, 6mos LCHAD
Boston, MA USA
mnbray@comcast.net
October 25, 2002
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