M S U D Newsletter
Selected
articles from April 1993, Vol. II,Ê No.
1
By Richard Hillman,
M.D.
The
Dec. 1992 issue of the Organic Acidemia Association Newsletter printed an
article on protein malnutrition written by Dr. Hillman of the University of
Missouri, Columbia.Ê I asked Dr. Hillman
to adapt the article for our Newsletter.Ê
He kindly answered my request.
It
is important for parents and older children with MSUD to understand the basics
of protein nutrition.Ê This knowledge
helps in understanding the importance of the diets and formulas (medical foods)
for persons with MSUD.Ê If you have
questions on this subject, please discuss it with your nutritionist or doctor.
Malnutrition
(or under-nutrition) can involve any of the groups of nutrients that are
necessary to sustain life and to maintain growth in infants and children.Ê It may involve protein, calories, minerals,
or the co-factors for enzymes that we usually ingest as vitamins.Ê Children can have a generalized lack of all
nutrients, or a deficiency of a specific nutrient or group of nutrients.
In
most children with MSUD, because of the nature of the disorder and its dietary
therapy, nutritional problems usually involve proteins and their component
parts, the amino acids.Ê For that
reason, this discussion will be limited to protein and amino acid malnutrition.
Proteins
are associated with all forms of life and have many different functions in the
body.Ê Proteins act as catalysts for
most chemical reactions, as the structural support system which holds
everything together; as hormones, as antibodies, and as carriers of other vital
substances in the blood stream.
Proteins
are formed by joining component parts, called amino acids, into chains.Ê The human body does not have the ability to
produce some of these amino acids and they must be ingested from vegetable or
animal sources.Ê These eleven amino
acids are called essential amino acids.Ê
They include the three branched-chain amino acids, leucine, isoleucine
and valine.Ê An additional nine amino
acids are necessary to make proteins.Ê
Because the human body can make these, they are considered non-essential
amino acids.Ê Some of these amino acids
are made from essential amino acids, others from carbohydrates or fats.
Although some essential amino acids are stored in the body, the amount that is
stored is only adequate for a few days of fasting in an adult, and is totally
inadequate to sustain growth in an infant or child.
When
proteins are ingested from any source, they are broken down into individual
amino acids.Ê With very little
exception, only the amino acids can be absorbed.Ê Since the amino acids are the same in animals or vegetables, the
source of protein is usually not important.Ê
It is important, however, that an adequate amount of all the essential
amino acids be present.Ê A normal adult
consumes about 100 gm of protein each day and recycles about 70 gm of body
protein.Ê Each day about 10 gm of
protein is lost in the stool, so about 160 gm of amino acids are utilized
daily.
To
understand the treatment of MSUD, it is necessary to know the varying fates of
amino acids once they are absorbed into the body.Ê Amino acids can be used:Ê
1) to make new proteins and cells; 2) to make other important compounds
needed by the body; 3) as a source of energy.
Firstly,
amino acids are incorporated into new proteins.Ê Body proteins and body cells are constantly replaced.Ê However, different proteins and cells turn
over at very different rates.Ê Some have
to be replaced in very short periods of time (hours) and some need only be
replaced after very long periods (months or even years).Ê Also the need for amino acids to make
proteins varies with the body's growth and activity.Ê Thus, if a person ingests a relatively constant amount of
protein, some of time the amino acids will not be needed and will be burned for
energy.
Secondly,
some amino acids are used to make other important compounds within the
body.Ê These include genetic material,
compounds that serve to excrete wastes, and many of the chemicals that make the
nervous system work.
When
amino acids are present in excess, or when they cannot be utilized because of
imbalances (discussed later), they undergo a third fate.Ê This is the breakdown of amino acids into
organic acids to be used as energy.Ê
Most children with organic acidemias have blocks in their ability to
ãburnä organic acids and these accumulate.Ê
In MSUD these are the compounds which produce the acidosis and give the
distinctive odor.
How
much protein is necessary?Ê Many
different techniques have been used to estimate the protein requirement in a
healthy human.Ê Despite the variation
that comes from different methodology, it is estimated that the so-called
average man, weighing 70 kgs. (154 lbs) needs about 0.5 gms of protein per kg
per day to maintain his/her body.Ê To be
safe, a minimum of 56 gm of protein or roughly 0.75 gms per kg per day is
recommended.Ê In comparison, the needs
of the growing child are much higher.Ê
At birth, the child needs over 2.0 gms per kg per day to maintain
growth.Ê This amount gradually decreases
with age but is always higher than the adult figure until growth ceases after
puberty.Ê The present recommendation of
the World Health Organization is to maintain 1.8 gms per kg per day in the
growing child after the newborn period.Ê
Other groups have recommend more.
All
of these listed protein requirements in man are based on the assumption that
the ingested protein is ãbalancedä and contains adequate amounts of all the
essential amino acids.Ê The standard for
an ideal protein is the casein in human milk.Ê
It is assumed that the ratio of amino acids in human milk is ideal and
all computations of the ãqualityä of protein are made by comparison of the
amino acids with those in casein.Ê Thus,
it is recommended that vegetarians eat beans with grains because the mixture of
the two sources of protein provides amino acids in roughly the balance found in
milk.Ê Remember that only the amount of
amino acids is important, not their source or sources.
Balance
of amino acids is important because of the way that proteins are made.Ê Proteins are manufactured like a long set of
beads.Ê Each bead is an amino acid in a
particular pattern.Ê The amino acids are
added one at a time so that if the next amino acid is missing the process
stops.Ê If a particular amino acid is in
short supply, even if all other amino acids are present in excess, the body
cannot replace its proteins.Ê The amino
acids that can not be used to make protein are then used for energy.Ê Under-nutrition with a single amino acid is
functionally equivalent to total protein malnutrition.
How
does this relate to protein malnutrition in children with MSUD?Ê All people must ingest enough amino acids to
maintain their body proteins, and, in children, to allow for growth.Ê Because the newborn grows so rapidly, the
diet of an infant with MSUD may not be very different from other infants (all
amino acids are used for growth).Ê
Indeed, some infants with MSUD will not become ill until their growth
rate slows at several months of age.
Most
people can eat protein in excess because any extra can be burned to provide
energy.Ê The child with MSUD cannot burn
a particular group of amino acids without producing a toxin (the organic acids)
that can made them quite ill.Ê However,
they still need enough of the amino acid for maintainence and growth.
Thus,
those caring for these children are faced with a difficult balancing act of
providing just enough of the branched chain amino acids, but not too much.Ê The requirements for these amino acids can
be quite low in children with MSUD.Ê In
many cases, complete protein must be limited or a deficiency of the other
essential amino acids would occur if they are not given by some other means.Ê The special formulas provide the other amino
acids as well as the vitamins and minerals that may be deficient on such a very
limited diet.Ê The balancing act is
particularly difficult in infants and children because they do not grow at a
constant rate, or if they have been sick, may have a period of rapid ãcatch-upä
growth.Ê It can be very difficult in
older individuals because they may refuse to take the special formulas.Ê Particularly during the early years the diet
can only be regulated by constantly monitoring growth and blood levels of amino
acids.
Because
proteins and cells turn over at different rates, different parts of the body
and different proteins are affected at different times in children with
under-nutrition.Ê The single most
sensitive index of protein nutrition is growth (length, not weight).Ê Usually growth rate will fall before many
other problems are seen.Ê Often skin
problems (rashes or breakdown) will occur as an early sign particularly in
areas that are irritated for other reasons.Ê
Gastro-intestinal (GI) problems are common because the surface of the
intestine is one of the most rapidly replaced cell surfaces in the body.Ê GI problems can then make the condition
worse by leading to poor absorption of nutrients.Ê If the condition continues long enough, the bodyâs ability to
fight infection may decrease.
It
is impossible to maintain these children without constantly monitoring them in
some fashion.Ê Their amino acid needs
are not constant.Ê A flexible dietary
prescription to meet the needs of the individual child is crucial.Ê Overall, the increasing success in
maintaining children with MSUD on these strange and difficult diets without
malnutrition is a tribute to the art and science of the parents, nutritionists,
and physicians who care for them.
PERSONALLY
FROM THE BRUBACHERS
Shayla
is spreading her wings÷she obtained her drivers license.Ê I asked her how it felt to drive alone for
the first time.Ê I thought it might have
been a little scary.Ê She said, ãIT WAS
GREAT!äÊ She is a part-time volunteer at
a local nursing home and enjoys helping with activities for older persons.Ê Although she is not quite at the 23 year old
maturity level, it is wonderful, but scary, to see her attaining independence.
Shayla
had been experiencing some headaches, dizziness, weakness and problems at times
with her eyes.Ê She passed out one day
in the shower.Ê Random tests showed very
low sugar levels.Ê Eating smaller meals
more frequently seems to be alleviating the problem.Ê We are puzzled as to why this problem developed.Ê Our local doctor thinks it may be the result
of her weight gain over the last several years.Ê Have others experienced anything similar?
During
the middle of April, two phone calls again confirmed the importance of early
diagnosis of MSUD.Ê One call was from a
genetics counselor asking for information for a family whose very sick child
was just diagnosed at 1¸ wks. of age.Ê
The other was from Sandy Kiel telling of the birth on April 12 of a
healthy 10 lb. baby boy named Jesse Ryan.
Sandy
had an amniocentesis at 4 months of pregnancy.Ê
She and her husband Carl knew this baby would have MSUD.Ê The medical center in Ann Arbor had prepared
her local doctors and hospital personnel so that all went smoothly.Ê Jesse was started on Mead Johnson MSUD Diet
Powder on the first day of life. ÊOn the
second day 10 cc of evaporated milk were added and 5 cc were given 3 times a
day for the rest of the week.Ê He has
been a very contented baby in contrast to their two year old Jenna who was
diagnosed through the Michigan State screening program at 5 days of age and was
very fussy until her levels were under control.Ê (See Jenna's history in the Nov. 91 issue.)Ê Jesse's leucine level stayed in the 2 mg/dl
range the first 24 hrs., and he was continuing to do very well at one week of
age.Ê In contrast, Jenna's leucine soon
elevated to over 20mg/dl.
Starting
a baby on MSUD formula immediately after birth is the best prevention of
problems for these children.Ê Few have
this benefit.Ê It requires prenatal
screening or testing immediately at birth for at risk infants.Ê It is unfortunate that carrier screening
research is hindered due to lack of funding.Ê
There is work for us to do.Ê All
children with MSUD should have the opportunity to live normal, healthy
lives.Ê Let us work toward this goal.
ÊÊÊ ÷Wayne, Joyce, &
Shayla Brubacher
At
the 12 th Conference of the Association for Neuro-Metabolic Disorders held in
Ann Arbor MI on Oct. 17, 1992, the mother of a child with PKU, Karen Riggle,
told of her experience traveling to England and living there for several
months.Ê She learned problems can be
encountered when taking formula from one country to another.
Medical
foods can be confiscated by custom officials or subjected to a high value tax
or customs duty.Ê To ship medical foods,
you need someone to receive them and they could still be confiscated.Ê (The Parmar family from England, who
attended our Symposium last year had their formula confiscated by US
customs.Ê It caused some very uneasy
times for them.)
Karen
solved her problem with the help of Ross Laboratories, who supply Maximaid XP,
the formula she uses.Ê Since it is made
in Liverpool, England, arrangements were made to have it supplied more
directly.Ê She needed a prescription
from her doctor because the same brand name formula was a little different in
that country.Ê They learned it was
easier to take low protein foods with them even though they were available in
England.
It
is wise to plan ahead to avoid problems at customs.Ê Check with your medical professionals for help with formula and
special foods.
Shayla
had an MRI taken at the University of Michigan Medical Center on Jan. 14, 1993
for the purpose of research.Ê Her
doctor, Dr. Richard Allen, reported no MRI abnormalities.Ê The white and gray matter and ventricular
size were all normal.Ê Her dental braces
did degrade some of the signals around the base of the brain and brain stem.Ê The results were nonetheless adequate to
prove 99% normal.Ê Shayla gives this
account of her ãordeal.ä
When
my Mom first talked about taking an MRI, I imagined a big, scary machine.Ê These experiences didn't bother me when I
was younger but now that I'm older I was uneasy that the test might hurt me or
cause damage.Ê I had a queasy stomach on
the way to the medical center, because I was very worried, but I didn't tell
Mom.
I
wanted Mom to come in with me for the test. She planned to until she learned
she would have to undress, put on a gown, and remove all the pins from her
hair.Ê She didn't think it was that
necessary.Ê I thought it was!
I
climbed on a stool to lay on a long, narrow table which looked much too small
for me.Ê They pushed me toward the
machine, which was as big as I excepted it to be.Ê It reminded me of the igloo I made one time in school.Ê I entered into the hole of a long, narrow
tunnel where something like a football helmet was put over my head.Ê Then the nurse gave me ear plugs to put in
my ears since I previously had damage to my eardrum.Ê I soon found out why.Ê
When they turned on the camera, it made a very loud noise.Ê It sounded like a bass drum or the boom of
thunder during a storm.Ê The noise was
interrupted at intervals to let me rest for a few minutes at a time.Ê It was not fun!
I
had to lay very still for an hour.Ê If I
moved, the pictures would get blurry and they would have to take them
over.Ê I did not want that!Ê I was glad I could see through the football
helmet glass and see the nurse who was giving me the test.Ê That helped keep me from getting
claustrophobia.
I
was afraid I couldn't lie still for that long, so they gave me a sedative.Ê It didn't put me to sleep because I fought
it. They told me I would come out of the other end of the tunnel, and I
believed them.Ê I wanted to be awake
when that happened!
They
had been teasing me, and I was taken out of the tunnel the same way I went
in.Ê I learned that this procedure was
not dangerous and I could have relaxed and found it interesting.Ê I hope others will not be afraid if they
need to have an MRI.
New
Formula From Ross Laboratories
Ross
Laboratories is marketing two new MSUD products.Ê The medical foods (formulas) are calledÊ Ketonex-1 for infants and toddlers and Ketonex-2 for children and
adults.Ê Ross supplied the following
information on these products.Ê Contact
your nutritionist for more information.
These
products are unique in composition and taste.Ê
The formulations and nutrient composition are based on clinical research
findings and recognized nutrient needs of infants, toddlers, children and
adults. Some product features include:
1) They contain
more fat than most metabolic foods.Ê Fat
is important to supply energy and decrease osmolality of the medical
foods.Ê Additional fat in the diet is
unnecessary with this form in the formula.
2) Ketonex 1
and 2 are supplemented with carnitine. Carnitine deficiency has been found in
children with inborn errors of metabolism.
3) Ross medical
foods are supplemented with selenium to help prevent deficiencies.Ê Selenium deficiency has been reported from
around the world in infants and children with metabolic disorders who rely on
medical foods with no added selenium.
Ê
4) Flavonex
Flavored Energy Supplement is available in two flavors, red punch and
grapefruit, to help improve taste and increase energy content of medical foods.
Shayla recently tried
the Ketonex-2.Ê She found it mixed
easily with room temperature water when briskly shaken in a tightly closed
container for 15 to 20 seconds as instructed.Ê
She liked the smell better than the MSUD2 she's now using, and it didn't
leak from her container because it was thicker. The new flavorings cover the
aftertaste of the Ketonex-2 quite well and even helped cover the taste of the
MSUD2.
I was pleased to see the
addition of L-carnitine and selenium in this product.Ê However Shayla and I were very disappointed in the addition of
the highly saturated fats, palm oil and hydrogenated coconut oil.
Some younger children
with MSUD do have a problem with poor appetites and maintaining their weight or
ingesting sufficient calories.Ê I am not
aware this is a problem with adolescences and adults with MSUD.Ê Are saturated fats the answer?Ê Shayla needs to lose weight and finds it
hard to reduce calories.Ê The Ketonex-2
has 100 more calories per 100 gms of the powder than Mead Johnson MSUD 2.Ê This translates into 248 more calories per
30 gms of protein.
Shayla and I think there
is a need for a medical food formulated especially for adolescents and adults
with MSUD.ÊÊ Are there others who share
this concern?
As you all
know, the diet is an important part of controlling MSUD.Ê It is limited in protein and leucine and
must pro-vide adequate calories throughout the day.Ê As a nutritionist, I find myself encouraging parents to increase
calories by adding butter and margarine to vegetables or starches, and by
adding sugar to fruits and beverages.Ê
These are easy and appropriate ways to increase calories.Ê Another way is to use sauces and dips; not
only do they add calories, but variety.Ê
Dips are great for parties too!Ê
Here are some recipes to try.
Ê Kelly
Green, R.D.
PINEAPPLE CREME
DRESSING
1 1/4 c.
marshmallow cremeÊÊÊÊÊÊÊÊ ÊÊÊÊÊÊÊÊ ÊÊÊÊÊÊÊÊ 3
T. mayonnaise
1 T. pineapple
syrupÊÊÊÊÊÊÊÊÊÊÊ ÊÊÊÊÊÊÊÊÊÊÊ ÊÊÊÊÊÊÊÊÊÊÊ ÊÊÊÊÊÊÊÊÊÊÊ ÊÊÊÊÊÊÊÊÊÊÊ 1/4
tsp. vanilla
Blend
marshmallow creme and syrup.Ê Stir in
mayonnaise and vanilla.Ê This makes a
great fruit dip!
Per tablespoon:ÊÊÊÊÊÊÊÊÊÊÊ 0.1 gm proteinÊÊÊÊÊÊÊÊÊÊÊ 0 leucine 32 calories
HONEY LIME
DRESSING
2 T. honeyÊÊÊÊÊÊ ÊÊÊÊÊÊÊÊÊÊÊ ÊÊÊÊÊÊÊÊÊÊÊ ÊÊÊÊÊÊÊÊÊÊÊ ÊÊÊÊÊÊÊÊÊÊÊ ÊÊÊÊÊÊÊÊÊÊÊ ÊÊÊÊÊÊÊÊÊÊÊ 1/2 tsp. lime zest
1 T. lime juice ÊÊÊÊÊÊÊÊ ÊÊÊÊÊÊÊÊ ÊÊÊÊÊÊÊÊ ÊÊÊÊÊÊÊÊ ÊÊÊÊÊÊÊÊ 1
T. orange juice
In a small
bowl, whisk together honey, lime juice, and zest until smoothly combined.Ê Stir in orange juice.Ê Great for citrus fruits!
Per tablespoon:
ÊÊÊÊÊÊÊÊÊÊÊ 0.1 gm proteinÊÊÊÊÊÊÊÊÊÊÊ 0 leucine 34 calories
CREAMY
GUACAMOLE
2/3 c. mashed
avocado (about 1 medium)ÊÊÊÊÊÊÊÊÊÊÊ 2 tsp.
grated onion
2 tsp. lemon
juiceÊÊÊÊÊÊÊÊÊÊÊ ÊÊÊÊÊÊÊÊÊÊÊ ÊÊÊÊÊÊÊÊÊÊÊ ÊÊÊÊÊÊÊÊÊÊÊ ÊÊÊÊÊÊÊÊÊÊÊ ÊÊÊÊÊÊÊÊÊÊÊ 1/4 t. salt
1 T. salsa ÊÊÊÊÊÊÊ ÊÊÊÊÊÊÊÊÊÊÊ ÊÊÊÊÊÊÊÊÊÊÊ ÊÊÊÊÊÊÊÊÊÊÊ ÊÊÊÊÊÊÊÊÊÊÊ ÊÊÊÊÊÊÊÊÊÊÊ ÊÊÊÊÊÊÊÊÊÊÊ 2 T. mayonnaise
Blend all
ingredients in a bowl.Ê Great for low
protein crackers or low protein corn chips!
Per tablespoon:
Ê.3 gm proteinÊÊ 20 gm leucineÊÊ 43
calories
More on Bread
Makers--From the Editor
A number of
parents bought bread makers since we first mentioned them in the Newsletter and
demonstrated one at the Symposium.Ê The
fall issue of the National PKU News reports on a bread baker survey of
their readers.Ê They report good results
with the machines and special recipes.Ê
Even first time bakers are reporting success.
Several persons
had trouble getting the bread to raise adequately.Ê Virginia Schuett found the amount of water to be a critical
ingredient.Ê If you have problems with
raising, add a couple extra tablespoons of water.Ê Watch to be sure the dough looks like heavy batter and forms a
smooth, rounded mound around the dough hook a few minutes after starting.Ê If it looks dry and distorted, add a little
water.Ê The country style bread may take
as much as a 1/4 c. more water than the recipe calls for.Ê Always use fresh yeast.
Following is a
good-rising bread recipe created by the mother of a child with PKU.
TRISH'S BEST
WHITE BREAD
2 3/4 c. (300
gm) Wel-Plan Baking Mix ÊÊÊÊÊÊÊÊÊÊÊ 3 T.
sugar
1 T. + 1 tsp.
Metamucil ÊÊÊÊÊÊÊÊÊÊÊ ÊÊÊÊÊÊÊÊÊÊÊ ÊÊÊÊÊÊÊÊÊÊÊ ÊÊÊÊÊÊÊÊÊÊÊ ÊÊÊÊÊÊÊÊÊÊÊ 3/4
tsp. salt
1 1/4 tsp.
active dry yeast ÊÊÊÊÊÊÊÊÊÊÊ ÊÊÊÊÊÊÊÊÊÊÊ ÊÊÊÊÊÊÊÊÊÊÊ ÊÊÊÊÊÊÊÊÊÊÊ 1 1/4 c. water
2 T. Cremora or
Coffeemate non-dairy creamer powder
Place dry
ingredients in the pan and mix briefly.Ê
Add water and immediately start machine.Ê Cool and cut into 15 slices.
Per recipe:ÊÊÊÊÊÊÊÊÊÊÊ 2.3 gm proteinÊÊÊÊÊÊÊÊÊÊÊ 1223 calories
Per slice:ÊÊÊÊÊÊÊÊÊÊÊ 0.2 gm proteinÊÊÊÊÊÊÊÊÊÊÊ 102 calories
FAMILY
HISTORIES
My most humble apologies
to Julia.Ê I was eager to print an
account of her accomplishments and had asked Julia several times to write for
the Newsletter.Ê At the Symposium last
year, her mother handed me this letter written by Julia on June 2, 1992.Ê How I managed to put it in a wrong file and
forget it, I'll never understand.Ê So I
am printing it now, although the news is a little outdated.Ê Julia will be graduating from college with a
degree in communications on May 8.Ê
Congratulations Julia, and thanks for sharing with our support group so
we can rejoice with you.
Hi, my name is
Julia Saunders and I'm a senior at Grand Canyon University in Phoenix,
Arizona.Ê I'm a communications major and
a history minor.Ê I was originally going
to be an elementary school teacher, but due to the stress and amount of work
involved in pursuing this degree, I decided to switch majors in December, 1991.
College has not
been easy, but I've learned a lot.Ê I've
maintained a GPA of 2.92 for the last semester and plan on graduating next May
with honors.Ê I plan on pursuing a
career in journalism and am going to grad school in the fall of 1995 to obtain
a masters in journalism and education.
This summer I
am taking Group Discussion, Desktop Publishing, and Advanced Composition.Ê I work parttime in the bookstore on
campus.Ê I enjoy working on campus
because it is fun, and I have easier access to the computer lab and the
library.Ê It also makes getting to know
people easier.
I was born
September 4, 1969 to Patrick and Phoebe Saunders, who already had a fourteen
month old daughter with MSUD.Ê I was
tested for the disease when I was a week old.Ê
Upon discovery that I, too, had the rare metabolic disease, I was taken
to the University of Colorado Medical Center and spent the first three months
of life there.Ê
I'm now
twenty-two years old and lead a relatively healthy life, except for an
occasional cold, flu, or allergy attack.Ê
This spring had been the worst for my allergies.Ê In February, I had a hard time breathing and
went to my doctor.Ê She told me that it
may be asthma and put me on an inhaler.Ê
I went back several times and was told that I had a slight case of
asthma brought on by allergies, so I use two different inhalers.Ê One prevents the attacks and the other helps
me breathe easier when an attack hits.
Reuben and Martha
Newswanger are the parents of Lois who has classic MSUD.Ê Martha is the daughter of Ivan and Katie Fox
whose 10th child was their only child with MSUD.Ê Now Martha is challenged with her first child, and finds her
previous experience with her sister very helpful.
ãShe looks like
an angel,ä I said to my husband one morning.Ê
Hair freshly washed, hanging just below her shoulders, a blue dress
which matched her eyes÷she was an angel sent down from Heaven, entrusted in our
care by a loving Father above.
Lois, our first
child, was born on March 25th of 1991.Ê
A dream come true; we were joyous as we took our little girl home the
next evening.Ê After a night only new
parents experience, we were ready to settle down to a routine of baby needs.
Since I have a
sister with MSUD, we were aware that we should be concerned.Ê Arrangements were made to send a blood
sample directly to Dr. Holmes Morton as this was a high risk baby.Ê Reuben, my husband, had not taken a carrier
screening test, and he referred to these hassled arrangements made by my
parents a few weeks before the baby was due, as making a big issue out of this.
Before we left
the hospital, the baby's doctor told us we should call his office if we hadn't
heard from them by 2:00 the next day.Ê
At 1:00 the next day, after an attempt to breast feed the baby (she had
a really hard suck, and I was so sore since I didn't have milk yet) I
remembered the doctor's words.Ê The
phone rang.Ê It was the doctor's nurse
saying the MSUD test was positive, and we should come to his office right away.
Not until I
hung up the receiver did the words sink in.ÊÊ
There were many questions then which are still unanswered, but our lives
have been enriched.
With the extra
special care all of her 21 months, she has so far been spared a hospital
stay.Ê Much credit goes to Dr. Holmes
Morton at The Clinic for Special Children and Dr. Duane Dilling, our family
doctor.Ê My parents, Ivan and Katie Fox,
have also been a great help and stand-by support.Ê I realize I cannot fully know how it is for new parents who are
unfamiliar with MSUD.
A while ago,
while paging through my pack of copied Newsletters from ãbefore our timeä, I
was reading the June 1989 Newsletter and felt compelled to share our
story.Ê We feel thankful for this
blessing bestowed on us.Ê The care of
MSUD is different from what it had been÷in so many ways:
1) The 2,4-DNPH
and Ketostix÷ways of monitoring levels at home÷have only been positive twice so
far.Ê Neither was during a
sickness.Ê We also depend on checking pH
levels.
2) The faster,
accurate blood test work in the first year, readily gives the parents assurance
and helps the doctor direct a strict monitoring program.Ê We do not have to deal with an irritable,
high-strung baby.Ê If the 2,4-DNPH gets
even slightly cloudy, or if the child gets more hyper, we can do
something about it.
3) So many newly
introduced foods also make this diet more interesting and challenging for the
mother.Ê We have learned that in order
for the child to have an appetite for other foods, the right amount of formula
is important.Ê Formula is filling.Ê On a well day, Lois will take 22-26 ounces
of formula÷MSUD Diet Powder.Ê This is
less than when she was a baby and not eating other foods.Ê She'll drink formula at various times during
the day and some with each meal.
For breakfast
she may have hashed potatoes, Cream of Rice with honey and Farm Rich, and also
a dry cereal or raisins.Ê I can use
plenty of substitutes!
When I start
preparing lunch or supper, sheâll want part of a rice cake.Ê She thoroughly enjoys her lunch of potatoes
and a vegetable with added butter.Ê She
just started eating plain fruit, although she had liked fruit jam.
For supper I
make her a homemade soup, potato or tomato, etc., or more handy÷diluted
Campbell's soups with low protein rusks for her crackers.
Last, but not
least, there are many things that add different flavors to a meal.Ê Children's tastes vary.Ê Lois is no bread eater yet, but I am glad
she started liking her cookies.
4) They can grow
the way they should÷normal and healthy, mentally and physically.Ê Lois was sitting alone at 4 1/2 months,
crawling at 6 months, and walking at 10 months and 1 week old.Ê We started her on baby rice cereal and
applesauce at 4 months of age.Ê To this
day, she is a terrific eater!
At 20 months
she would sit patiently lacing and unlacing her shoes÷sometimes to Momâs
disgust.Ê Now at 21 months, sheâs potty
trained and saying some three-word sentences.Ê
She weighs 33 lbs. and is 34 1/2 in. tall (her daddy is 6 ft. 2
inches!).Ê To us, Lois is just like any
typical, almost-2-year-old.Ê She just
needs her own special foods.
We feel
thankful that God saw fit to bless us with another baby girl.Ê Karen was born on July 9th of 1992.Ê These two girls get compared more so than
other sisters.Ê Each day still has its
struggles, but we have so much to be thankful for.Ê We are just like any normal, healthy family!
Jesse and Jason are
twins.Ê Jason has MSUD, Jesse does
not.Ê Following is an account of Jason's
diagnosis and progress as written by his mother, Deborah Kendall in a letter to
me on Jan. 9, 1993.Ê Thanks for allowing
me to share this with our readers, Deborah.
I have been in
possession of a Newsletter from your group for quite some time, but have been
hesitant to write.Ê The following is a
brief history of our experience with MSUD.
Jason was born
October 10, 1989 at 30 weeks gestation.Ê
He was second of twins and our fourth child (all boys).Ê His first months were marked with what, in
retrospect, were classic symptoms of the disease (poor feeding, lethargy,
unresponsiveness, irritability, etc.), but all his symptoms were written off to
prematurity.Ê His progress was always a
little slower than his brotherâs, but the difference became more pronounced at
approximately 15-18 months.Ê By 22
months, our doctor (family practitioner) felt that Jasonâs developmental delay
was severe enough to warrant evaluation by a specialist.Ê ( I had asked about the strong odor of body
fluids a couple of times, but was told it was probably due to ãbody
chemistry.ä)
The neurologist
we were referred to (Dr. Joseph Casadonte, All Children's Hospital, St.
Petersburg, FL) ordered a number of tests, including a CT scan and an MRI, both
of which indicated a metabolic disorder.Ê
After several blood tests, Jason was diagnosed with MSUD, and we were
referred to Dr. Terry DeClue, a metabolic specialist at the University of South
Florida, Tampa.Ê Dr. DeClue gave us a
more detailed diagnosis of Intermediate MSUD with enzyme activity of 1%.Ê Both Dr. DeClue and Pilar Goldstein, Jason's
dietitian, have been God-sends.Ê They
have been with us each step of the way and are always available to help with
any problem or to answer any question no mater how trivial.
Because Jason
was diagnosed at such a late age (2 years), some permanent damage had already
taken place.Ê We do not know his long
range developmental outlook.Ê When
diagnosed at 24 months, Jason tested at approximately a 9 month level,
developmentally.Ê After starting
treatment, the change was immediate and very dramatic.Ê When re-evaluated at 36 months, he tested at
approximately a 22 month level; so his progress thus far has been very good.
We pray that
Jason's health will continue to be good÷no illness related hospitalizations
since birth, only minor illnesses÷and that his developmental progress will
continue at its present pace.Ê We
include him in all of our activities and strive to make his life as ãnormalä as
possible.Ê Jason is a great blessing to
us and has taught us that sometimes the Lord sends his greatest blessings
through our worst experiences.
We would be
interested in hearing from other families whose children were diagnosed at a
later age.Ê We are interested in how
their developmental progress compares with children who were diagnosed at an
early age.Ê Also, if there are any other
ãhome schoolä families in the group, we would love to hear from them.Ê We are looking forward to hearing from you
and being a part of the support group.