I
solicited my father, Jim Hartley, to summarize and prepare a great
family story about my sister Angela's experience relating to MCAD
deficiency that her daughter, Kadence, inherited genetically. Angela
has done a great job documenting the struggles over the years in
dealing with MCADD, and both my father and mother were there first-hand for much of
it.
Angela
and Kadence:
Facing MCADD Together
An
unexpected telephone call on July 4, 2012 nearly put Angela into
cardiac arrest.
 |
| Newborn, Kadence Davis |
Five
days earlier, on June 30th, Angela Hartley Davis had given birth to
her first child, a beautiful daughter they named Kadence. Angela
delivered at the state-of-the-art Women and Newborn Center in the
Intermountain Medical Center in Murray, Utah.
From
all appearances, their new baby was perfect. Kadence had all her
fingers and toes and a healthy cry. She weighed-in at seven pounds,
nine ounces and was 20.5 inches long. Their precious little one was a
healthy pink and had all the normal baby responses.
At
home, all the essentials for a newborn’s nursery were in place,
except one—a rocking chair. In fact, when the life-altering phone
call came on July 4th, Angela’s husband, Sterling, was out with his
dad buying a rocking chair for her. Thus, when her phone buzzed,
Angela was alone, weakened from delivery, and exhausted from
Kadence’s frequent wails for nourishment—in other words, Angela
was a typical new-mom zombie.
Reluctantly,
Angela answered her phone. At the other end was a specialist from
Primary Children’s Hospital. He got straight to the point:
Kadence’s newborn screening revealed a rare defect called "medium
chain acyl-CoA dehydrogenase deficiency." Deficiency? Medium
chain what? The specialist briefly explained that Kadence had a
metabolic disorder and that Angela needed to get Kadence to a
metabolic specialist as soon as possible. The man’s next
instruction was nearly heart-stopping. With deliberate, punctuated
words, he warned, “You must feed Kadence every three hours or she
could die.”
Angela
had only been home from the hospital for two days and was having
troubles breast feeding. This was the “straw” that nearly “broke
the back” of the inexperienced, bone-weary new mom. Shocked.
Panicked. Frightened. Desperate. Overwhelmed. Angela broke down and
wept from the depths of her soul.
 |
| Dr. Nicola Longo |
Kadence’s
pediatric metabolic specialist was Dr. Nicola Longo, a brilliant
Italian doctor. At their appointment, Dr. Longo explained what medium
chain acyl-CoA dehydrogenase deficiency is. The condition is more
commonly known as MCAD Deficiency, or simply MCADD.
The
government’s National Institute of Health (NIH) estimates that one
in 17,000 people in the U.S. is born with the deficiency. It’s a
genetic disorder in which specific enzymes for digesting foods are
missing or do not function properly. Consequently, a person’s
metabolic system doesn’t break down certain fats into energy for the
body. Therefore, the person’s health and energy rely on glucose
(sugar).
Unfortunately,
glucose gets used up in the body relatively quickly. Once used up,
the body then normally metabolizes fat … unless you have MCADD.
With MCADD, the fat can’t be metabolized and the body loses its
ability to create energy. Hypoglycemia—severely low blood
sugar—sets in and toxic substances develop in the blood. Without
glucose, people with MCADD experience lethargy, fatigue, clumsiness,
trouble talking, confusion, a feeling of hunger, sweating, shakiness,
and weakness. A cascade of organ failures can occur—liver, heart,
and brain—leading to a loss of consciousness, seizures, and death.
Therefore,
it is essential for individuals with MCADD to eat frequently to keep
their glucose levels up. The younger and smaller the person is, the
more frequently they must eat—in newborn Kadence’s case, at least
every three hours round the clock. And because their metabolic
systems cannot convert certain fats into energy, the person’s diet
must avoid specific fats—those containing medium chain fatty acids,
such as coconut oil, palm kernel oil, and whole milk from cows,
goats, and sheep. They also must religiously maintain a “heart
healthy” diet that is low in fat and high in carbohydrates and
protein.
To
stress the importance of feeding Kadence every three hours, Dr. Longo
warned Angela in his thick Italian accent, "You must wake up and
feed her every three hours. If you do not, you will wake up in the
morning … but she will not!"
At
an early stage in life, even being 30 minutes late could be fatal.
Angela learned that the hard way. One night, she was so tired she
slept through the normal feeding time. She was suddenly awakened by a
voice calling her name—a voice she feels came from a divine source.
She looked at the clock and panicked. She had overslept by about a
half hour. She quickly prepared a bottle and hurried to Kadence. The
baby was limp and unresponsive. As Angela worked to coax Kadence to
drink, her panic grew and grew! Finally, the baby took the nipple and
life slowly returned to her tiny body.
In
addition to regular feedings, Kadence would require a twice-daily
measured dose of a prescription liquid called carnitine. Carnitine is
a natural substance that helps body cells make energy. It also
attaches to excess fat cells and waste that the body can’t break
down so they can be expelled. Carnitine would become Kadence’s best
friend for the rest of her life.
 |
| Kadence battling stomach flu |
Angela
also learned that the vital timing of eating and benefit of carnitine
are threatened by illnesses that cause appetite loss, such as fever,
vomiting, and diarrhea. For people without the deficiency, those
kinds of illnesses may be miserable. But for Kadence and others with
MCADD, they can be life-threatening!
It
was about 18 months before Angela could enjoy a normal night’s
sleep. Kadence could finally go up to 12 hours without eating. But by
age three, Kadence and her mom had already made many trips to the
hospital because of illness, especially during cold and flu seasons.
In fact, two Christmases had been spent in the hospital.
Angela
has always tried to help Kadence understand the dangerous nature of
MCADD without using words that might frighten her. During one
teaching moment, when explaining to her preschooler what could happen
if she didn’t eat, Kadence just didn’t understand. Finally,
Angela succinctly told her, “Kadence, if you don’t eat, you could
die.” After a moment to process what her mom had just told her,
Kadence’s eyes grew very wide, her jaw dropped, and she
dramatically replied, “And that would be very, VERY bad!”
 |
A spoonful of sugar in ginger ale
helps the carnitine stay down! |
When
Kadence becomes sick, Angela goes into high-alert “caretaker mode”:
Children’s Tylenol for fevers, Zofran for nausea, and bribery and
coaxing to get Kadence to consume anything high in
sugar—marshmallows; fruit juice; and Gatorade, ginger ale, or 7 Up
spiked with added sugar. If Kadence doesn’t respond, she can
quickly become very lethargic (highly uncharacteristic of a normally
extra-active girl), and Angela will then go into “emergency mode.”
She makes an anxious phone call to the geneticist, then to the
hospital to have a special glucose IV prepared and ready for their
arrival.
Arrangements
are made for their son, Jackson, and their dog, Titan. Angela then
quickly packs a tote with essentials, such as toothbrush, toothpaste, change
of clothes, extra-comfy pajamas, etc., and it’s off to the hospital
with Kadence—a race against the merciless metabolism clock.
Angela
has a Facebook page called “Living with MCAD Deficiency.” In
excerpts from her entries of March 27 and 29, 2017, she gave the
following blow-by-blow account of her emergency mode. Kadence was
four years old.
March
27, 2017
At
8:00 pm last night, Kadence ate an entire cup of cottage cheese for
her bedtime snack. She also had eight ounces of Ovaltine and slept
like a dream for 12 hours. Upon waking, I gave her about three ounces
of cran-grape juice, three Banquet link sausages, and three
strawberries. She drank her juice, but only ate one bite of sausage
(normally she devours those) and half her strawberries (something
else she devours). Hmmmm, suspicious....
A
short while later, she told me her tummy hurt. And when I got out of
the shower around 10:00 am, she yelled "Mommy, I throwed up!"
Sure enough, there on the carpet were her half-digested strawberries.
Plan
B: sugared ginger ale! One tablespoon of sugar in three ounces of the
soda and she gulped it down. At noon, she threw up all the ginger
ale. That meant she had gone 16 hours without being able to keep food
down. And that's dangerous! I didn't even bother calling her
geneticist. I just called the ER at Primary Children’s Hospital,
told them we were coming, and loaded her into the car.
She
was very lethargic and fell asleep in the car. I had to look back
periodically to make sure she was still breathing! She had never gone
that long without food before. She threw up in the car and that only
added to my worry!
To
the hospital's credit, once we got there, we didn't have to wait. A
room was ready for her and her IV fluids were ready. Within 10
minutes of arriving at the hospital, she had her IV in.
She
threw up twice more in the ER and as soon as IV fluids were going
strong and she had been given some Zofran, she was pretty much back
to her energetic, happy self.
March
29, 2017
Well,
what I thought was going to be a quick, 24-hour visit to the hospital
has turned into one of our longest visits yet!
We're
now on our third day in the hospital and Kadence is happy, energetic,
and charming all the nurses, but she won't eat! She won't be
discharged until she eats, so we're just waiting around until she
wants to eat!
She's
now on her third IV because they keep infiltrating [leaking fluid
into surrounding tissues], and it's looking like a fourth IV is on
the way because her arm is starting to swell and hurt. *Sigh*
Fortunately,
as Kadence grows older, those kinds of MCADD episodes are happening
less and less often. But the treacherous disorder is a reality that
Angela and Kadence have fought since Kadence’s birth and will
continue to fight all of Kadence’s life.
Napoleon
Bonaparte observed: “Courage isn’t having the strength to go
on—it’s going on when you don’t have the strength.” With that
definition, MCADD has made the word courage a middle name for both
Angela and Kadence.
Adapted by Jim Hartley, October 2019
