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When you first heard about 2-MBADD it may have been quite confusing.
Who had ever heard of such a condition? It was not known about by
the Hmong in Thailand or Laos. That is because 2-MBADD had not even
been reported before 1999 and the technology to diagnose it was not
available there. Since it was not known about in your homeland there
are few Hmong words to describe this condition. This booklet will
help you learn all you need to know to care for your baby with
2-MBADD by telling the experience of one family. This is not the
true story of any specific family who has a child with 2-MBADD, but
is an example of what could happen in a Hmong family. Please be
assured that your doctors care very much about the health of your
baby.
Moving to America
Dee just turned 19 and she was going to be moving again.
She did not remember her first move. She was only three when she
moved with her family from Thailand to central California. Dee spent
her childhood surrounded by many relatives and Hmong friends.
Because she learned English so quickly she often translated for
them.
 Moving
again
Dee's years of translating for family and friends gave her a desire
to teach English as a second language. It was during her first year
in college that Dee met a wonderful man, Dang. They were soon
married. Early in their marriage they talked about moving to
Wisconsin. Dee knew Wisconsin had a large Hmong community that could
welcome them and many colleges where she could continue her
education. They consulted the elders for advice. With their blessing
Dee and Dang left for Wisconsin.
Newlyweds in Wisconsin
After living with Dang's uncle's family for several months, the
young couple settled in an apartment of their own. Dee found an ESL
job where she worked in several schools in their county. Dang helped
to build the family business. Both were busy and happy and sometimes
very tired.
Dee soon found out why she had recently felt more tired than
usual-she was pregnant! Dee followed her doctor's advice by eating
well, taking her vitamins, trying to get good rest and going to the
doctor regularly for her pregnancy care. She wanted to do everything
she could to have a healthy baby. The ultrasounds showed that the
baby was growing well.
 A new baby!
Just three weeks after school was out for the summer Dee delivered a
baby girl. Dang was so proud. He welcomed a few close relatives to
the hospital nursery. They all wished the new family good health and
long life. They named the baby, Mai, a traditional Hmong name.
Like most babies, she spent her first days eating and sleeping. This
was interrupted by the usual examinations by the doctor. Dee was
surprised to see a little band-aid on Mai's heel, but was reminded
by the nurse about the blood test for newborn screening. Dee read
the pamphlet that explained about newborn screening in Wisconsin.
Just that year Wisconsin had expanded its newborn screening to test
for 48 diseases. The reason for testing newborn babies is that the
diseases can be very serious but often the symptoms do not develop
until the babies are very sick or until brain damage is permanent.
Testing newborn babies allows treatment to begin before the baby
experiences any of the serious symptoms of the diseases.
Dee did not think too much about this because the pamphlet had
described all of the diseases as being very rare. The next day they
left the hospital to go home.
A surprising phone call
Three days after Dee came home from the hospital with Mai she
received a phone call from Mai's doctor. The doctor explained that
Mai's newborn screening checked Mai's blood for many genetic
conditions. There was a substance in Mai's blood that showed she
might have one of these conditions. Dee was advised to take Mai to
the doctor's office for a repeat of the newborn screen blood test.
Dee was scared. She immediately called Dang at work. He comforted
her as best he could. They reassured each other that Mai seemed
healthy and was eating and sleeping well. During their brief visit
at the doctor's office the next day when Mai's blood was rechecked,
the doctor reassured Dee about Mai's health.
The following day Dee got another phone call saying that the second
blood test was also abnormal. The nurse from her doctor's office
explained that the screening test is just a screen and more tests
were needed to know for sure if there was a problem. These tests
would be done at a special clinic in Madison or Milwaukee.
Now Dee was very worried. She and Dang discussed the situation at
length with their relatives. Phone calls were made to their parents
for comfort and advice.
 The
special clinic
At the clinic, more tests were done on Mai's blood and on her urine
too. The substance in her blood was still there. The substance is
called an organic acid. This particular organic acid is only found
in people who have a condition that is abbreviated 2-MBADD.
The doctors explained that 2-MBADD was a new condition. It was just
reported in 1999. Before Wisconsin expanded their newborn screening
program only four people in the whole world were known to have
2-MBADD. Surprisingly, several more babies in Wisconsin were found
to have the same organic acid in their blood over the next few
months. All of the babies were from Hmong families.
First facts about 2-MBADD
This is what was known about 2-MBADD in 1999 when the condition was
first reported:
-
Only
three children were known to have 2-MBADD. The children came from
two different families, one from Europe and one from Pakistan. Two
children were delayed in their development, had weak muscles, low
blood sugar and seizures. The third child with 2-MBADD was the
younger sister of one of these children. Her blood was checked
right after she was born and the organic acid was found. She was
given a special diet and a supplement called carnitine. She has
grown well and has not experienced the symptoms of 2-MBADD.
-
The
symptoms of 2-MBADD grew worse when the children were sick with
the flu or a cold that decreased their appetite.
-
Surprisingly, the fourth person known to have 2-MBADD was the
mother of one of the children who had 2-MBADD. She had the same
organic acid in her blood too, but she showed no signs of the
condition. So it seems that not all people with 2-MBADD have
symptoms.
-
People
with 2-MBADD cannot break down one part of protein, called
isoleucine, in the usual way.
-
2-MBADD is an inherited, genetic condition.
For more
detailed information about 2-MBADD, protein, isoleucine, the low
protein diet, carnitine and genetics look in the separate sections
at the back of this book.
Cautious advice for families
The doctors who took care of the first Hmong babies with 2-MBADD
were very careful and cautious with the treatment they recommended.
They knew that babies who had conditions like 2-MBADD were helped by
treating them with a special formula and carnitine. The doctors knew
this type of treatment would not hurt the babies with
2-MBADD, so they recommended a similar treatment for the babies who
were first diagnosed with 2-MBADD.
Dee and Dang learned how to mix the special formula and carnitine to
feed to Mai. Mai took the new formula without any problem. They were
given special instructions to follow if Mai got sick with an
infection or flu.
Dee and Dang took Mai to the specialty clinic every few months for
the first year to check her growth and review what she was eating.
At some visits her blood and urine were checked for the organic
acid.
Mai has been a healthy baby and toddler who has grown and developed
just fine. She enjoys day-care several times per week. Her
grandparents visit often from California to see their beloved little
granddaughter.
New information about 2-MBADD in Hmong children
After four years of expanded newborn screening, 25 babies have been
found to have 2-MBADD in Wisconsin. All but one of the babies were
from Hmong families. This was very surprising! The same situation
was seen in Minnesota where over 10 babies were found to have
2-MBADD. Many other states have not expanded their newborn screening
programs to include 2-MBADD so babies in those states may not be
identified.
This is what has been recently learned about 2-MBADD since more
babies have been diagnosed with it:
-
Approximately one out of every 225 babies born to Hmong families
can be expected to have 2-MBADD. 2-MBADD in Hmong families is
fairly common compared to other genetic conditions.
-
There
are several genetic changes (mutations) that result in 2-MBADD.
All of the Hmong families tested so far have the same genetic
change. 2-MBADD in Hmong families does not seem as severe as in
other families who may have a different genetic change.
-
Hmong
children who have 2-MBADD have not gotten sick from the condition.
None of them are developmentally delayed. One of the children has
a speech problem but it is impossible to tell if this is from
2-MBADD or from another cause. A few of the babies had weak
muscles that grew stronger as they got older.
-
A
medical report from 2005 described four other babies with 2-MBADD.
Three of these babies were very sick and had developmental delays.
These three babies were not Hmong. The fourth baby with 2-MBADD is
Vietnamese and is doing well.
From this experience, it seems that babies with 2-MBADD who are
Hmong may have a less serious form of the disorder. But it is too
early to say this with certainty, so we continue to recommend a
low protein diet and carnitine for all babies with 2-MBADD.
Your family's story
 Now you have a new baby. Congratulations! We wish you good health
for you and your baby. Do you have worries about your baby because
he or she has 2-MBADD? Your doctors are concerned too, but what they
know about 2-MBADD in Hmong babies is very encouraging. Enjoy your
baby. Watch your baby grow and learn new things. Here are some
things you can do to help your baby be healthy.
Follow your doctor's advice and your nutritionist's teaching about:
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the
special formula to limit the protein in your baby's diet which
helps keep the organic acid level low
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carnitine which binds to the organic acid so it will not harm
your baby
-
visiting the special clinic to monitor your baby's growth and diet
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what
to do if your baby is sick. This is explained on the next page.
If
your baby is sick
There is concern that your baby may experience a medical emergency
called a “metabolic crisis”. In a metabolic crisis the organic acid
and other substances in the blood rise to very high levels. These
substances can make a baby very sick. A baby experiencing a
metabolic crisis requires immediate medical care to prevent a coma.
In babies with conditions like 2-MBADD, a metabolic crisis is most
likely to happen when they are sick with an illness or infection. It
can also happen if the baby has not been eating very well.
If your baby is sick, do not let him or her sleep through the night.
Your baby needs liquids that provide energy. Wake up your baby every
4 hours and give him or her more than 2 ounces of formula or juice.
This can prevent a metabolic crisis.
Watch for these early signs of a metabolic crisis when your baby is
sick.
-
Vomiting
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Very
sleepy and hard to wake up
-
Poor
feeding for more than one day
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Weakness, not able to sit or stand,
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floppy
arms and legs
If your
baby shows these symptoms take your baby to the emergency room and
have them call one of these numbers. In Madison, call 608-262-2122.
In Milwaukee call 414-266-3347. Have them ask for the metabolic
doctor on call.
Although it is less likely to happen, toddlers and children can also
have a metabolic crisis if they are very sick. They will show the
same signs as a sick baby. The good news is that, so far, no Hmong
babies or children with 2-MBADD have had a metabolic crisis.
If you ever have questions or concerns about your baby's condition,
please call or bring your baby to the clinic. With conditions like
2-MBADD it is best not to wait, but to get help as soon as you sense
that something is not right.
What to expect in the future
Much has been learned about 2-MBADD in the last few years, but the
children who have 2-MBADD are still very young. More will be learned
about 2-MBADD as the children grow older.
Your baby will grow and change in what he does and how he eats
during his first year. Please bring your baby to the special clinic
as often as the doctor recommends. This is so your baby's growth can
be checked and the diet changed if necessary. As your baby grows he
or she will be eating more foods. The traditional Hmong diet
includes much rice and many vegetables with some meat. This type of
eating is quite low in protein. But if your family eats a more
typical American diet with more meat and cheese which has more
protein, then the organic acid levels could go up. Your special
clinic will help you adapt your usual way of eating so your baby can
stay healthy.
At the clinic
Visiting the clinic keeps you up to date about what is being learned
about 2-MBADD. Knowing as much as you can helps you take the best
care of your baby. Since 2001, when the first babies with 2-MBADD
were found in Wisconsin, changes have been made in what is thought
to be the best treatment for 2-MBADD in Hmong children. You can
expect more changes. Please trust your doctors when they make
changes. Doctors make changes because they have new information or
something about your child has changed. When you visit the special
clinic you also help all Hmong families. What is learned from your
family can help the doctors help other Hmong families whose babies
are not even born yet. This will be a great gift to the Hmong
community.
Good health to your family!
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