M S U D Newsletter
Vol.15, No.1, Spring/Summer 1997
(Continued from Vol., 14 No. 2)
The
1996 MSUD Symposium was held in Columbus, OH on June 20 through 22, 1996.Ê This was likely the largest group of persons
with MSUD to ever gather in one place.Ê
Symposium â96 was attended by 55 families who have children with MSUD.
The
last issue of the Newsletter included highlights of the speeches presented the
first day of our Symposium.Ê This issue
covers the talks given on the second day (Saturday).Ê A mother and daughter from Australia and a mother from Chile
shared their personal experiences.Ê A
professional and a sibling addressed sibling issues; the latest in diet and
nutrition were covered by nutritionists and parents in a speech and a panel
discussion; parents of older children with MSUD met for a time of sharing; and
there was a talk on self esteem.Ê During
the Symposiums, parents have the opportunity to share their observations and
concerns with other parents on an informal basis.Ê This valuable part of the Symposium cannot be covered in the
Newsletter.
Nutrition
Problems of Children Undergoing Therapy for MSUD
Presenter: Phyllis
Acosta, DrPH, RD
The following article summarizes
the informative speech given by Dr. Acosta, Director of Metabolic Diseases at
Ross Products Division in Columbus, Ohio.Ê
She reviewed the most recent nutritional information relating to the
health of children with MSUD.Ê This is
important information for families to discuss with their nutritionists.
Nutritional problems in the early treatment of MSUD
Before there were medical foods (formulas) for MSUD,
many children died.Ê There was no way of
treating them except to restrict protein. When protein is severely restricted,
children stop growing, consequently reducing their need for amino acids, since
they no longer need them to make protein.
Early nutritional problems with homemade and
commercial medical foods:
á
Low blood sugar- Compounds made by the patients with high keto acid levels
interfered with making blood glucose.
á
Folic acid
deficiency- The fat soluble vitamins
were first given separately.Ê Parents
sometimes forgot to give them, so they were added to the medical foods.
á
Acidosis- This affects
growth and bone mineralization.Ê The
first amino acids used in formula had hydrochloric acid attached to them, so
they dissolved in liquid more readily.Ê
This caused acidosis and poor growth.Ê
(The sludge at the bottom of the bottle or cup of formula contains some
of the amino acids and minerals.Ê Be
sure your child gets that sludge.)
á
Selenium deficiency- It was not known to be an essential nutrient until
reported in Germany in 1975.
á
Growth retardation- It is a serious problem in MSUD and PKU.Ê We are just starting to understand it, and
it can be prevented.
The development of commercial medical foods
Between â61 and â78 clinics were mixing L-amino acids
with vitamins, minerals, gelatin and some carbohydrates to make a medical food
for MSUD.Ê MSUD Diet Powder was the
first commercial medical food marketed in â78.Ê
It was much lower in protein than what Dr. Acosta preferred; however,
the pharmacist at the hospital where she was working refused to make the
ãhorrible stuffä any longer when he learned a commercial medical food was
available.
The first formulas had no quality assurance.Ê Companies that make medical foods have to
meet strict quality assurance.Ê The
nutrient composition must be maintained until the end of the shelf-life of that
product.Ê Quality assurance and costly
ingredients, like the L-amino acids, add to the expense.
In the 80s, Scientific Hospital Supplies, a company in
Europe, began marketing Analog, Maxamaid and Maxamum MSUD.Ê In the 90s, Dr. Acosta had the pleasure of
designing the products called Ketonex-1 and Ketonex-2 marketed by Ross
Laboratories.Ê Being a nutritionist and
having worked with metabolic patients since the 50s, she wanted to design her
own medical foods.Ê She didnât like any
of the products on the market at that time.
Deficiencies and growth problems
Reports from the 70s showed patients were not above
the 25 percentile in weight or height.Ê
We are still seeing some problems with growth, some protein/energy
malnutrition, and deficiencies in isoleucine, carnitine, and selenium.Ê
Dr. Acosta showed charts of the protein and calorie
intakes of children with MSUD compared with the Recommended Dietary Allowance
(RDAs) and with a control group of childrenÊ
(average children) ages 1 to 11.Ê
Although the protein intake seemed adequate for children with MSUD
according to the RDAs, it was much lower than the intake of the average child
in the United States especially in the 4 to 11 age group.
A study reported in â90 involved 12 children with MSUD
in the age range of 2.8 to 11 years.Ê
Their protein intake was 78% of RDAs and their calorie intake 86% of
RDAs.Ê They were shorter than normal and
were selenium deficient.Ê Selenium
deficiency occurs anytime protein is restricted in the diet.
It was reported that three children with MSUD from
England were significantly below normal in growth.Ê There is a problem with the way we are feeding our children.Ê If children are fed enough protein, they
will grow normally.Ê If we can get these
children to grow normally, they will tolerate more BCAAs (branched chain amino
acids).Ê Growth in length is the best
indicator of protein status.
Isoleucine deficiency
makes children appear to have kwashiorkor, a severe protein-energy
deficiency.Ê Many infants with MSUD
develop lesions on the buttocks, a sign of isoleucine deficiency.Ê Unless blood is drawn every day when a
clinician is trying to drop the BCAAs rapidly, it is hard to tell exactly when
to start adding isoleucine.Ê Adding isoleucine
will eliminate the rash on the buttocks.
Carnitine is
produced in the body but the nutrients must be provided in the diet.Ê Studies of plasma-free carnitine levels
during the pregnancy of a woman with MSUD revealed a need for larger than
normal amounts of carnitine.Ê This
suggests children with MSUD may be losing carnitine because of some
intermediate compounds they are making.Ê
It may be helpful to know what your childâs plasma-free carnitine is.
Selenium,
according to some very recent information, controls one of the enzymes in the
body that changes a non-active form of thyroxine (a hormone produced by the
thyroid gland) to an active form.Ê A
German report in the 70s indicated low levels of selenium in children with MSUD
and PKU.Ê In a study in Ireland, heart
rhythms of PKU patients deficient in selenium became abnormal and life-threatening.Ê In a recent study, PKU patients were given
selenium.Ê This decreased their
non-active levels of thyroxine and increased the active form.
If children are not getting enough selenium, they may
not have enough of the active form of thyroxine.Ê Thyroxine can affect bone mineralization, growth and IQ.Ê Selenium is also important for the immune
system.Ê The soil is deficient in
selenium in many areas of the United States.Ê
Foods grown in those areas do not provide enough selenium.
All the medical foods made in the United States have
adequate selenium.Ê MSUD 1 and MSUD 2
are made in Germany and do not have added selenium.Ê So if your child is taking enough of a medical food made in the
United States, he/she is getting an adequate amount of selenium.Ê The companies have to put more than normal
amounts of these products in the medical foods to get normal plasma
concentrations.
Studies show, however, that children with MSUD ages 1
to 4 were getting 66% of RDAs of selenium but only 20% of what a control group
of children was ingesting; ages 4 to 7 were getting 53% of RDAs and only 15% of
what the control group was ingesting; and ages 7 to 11 were getting 17% of RDAs
but only 7% of what the control group was ingesting.Ê This suggests that children ages 4 to 11 were not getting enough
medical foods.
What are some important factors that influence the IQ
of a child with MSUD?Ê A reference by
Dr. Paige Kaplan (at Childrenâs Hospital in Philadelphia) names three possible
effects: how long the child suffered the insult of high branched chain keto
acids before diagnosis, the long term metabolic control (how tightly the diet
is controlled), and possibly the metabolic control at the time the test was
done.
Recommendations for providing adequate nutrition
1) The protein in medical foods is an artificial form
of protein.Ê The amino acids are in
their free form (like in meat already broken down by the digestive tract) and
they are quickly absorbed.Ê Because the
amino acids are absorbed faster than the body can manufacture its own protein
from them, the amino acid÷after the amino group is removed÷is used for energy
purposes and not as a building block for protein.
So we have to give the children more amino acids and
feed them more frequently÷four to eight times daily.Ê It is not a good practice to give the medical food only in the
morning and evening.Ê Spread it out
during the day and give some natural protein with the medical food.Ê You wouldnât give your ãnormalä children all
their food for the day at one time.
2) The three BCAAs are not in the same proportion as
in natural protein (from foods).Ê
Leucine is higher than isoleucine and valine.Ê Therefore, children with MSUD can become deficient in isoleucine
and valine.Ê By adding the pure
isoleucine and valine to the medical food, you can enhance growth and prevent
low levels of these two amino acids.
3) It is important that everything prescribed be
ingested each day.Ê Dietitians make
parents very compulsive because it is important.
4) Certain things need to be monitored: nutrient
intake, growth, plasma amino acids, albumin, and ferritin÷an indication of iron
status.Ê If the medical food given does
not contain selenium, a supplement needs to be given every day.
Dietary Panel
Presenters: Phyllis Acosta, DrPH, RD, &
Steve Yannicelli, MMSc, RD
MSUD Parents: Anne Fredericks, Tish Fuller
& Glenda Groff
Following are thoughts and
information shared by the panel in answer to questions from the audience.
The idea of giving the medical food throughout the day
was emphasized.Ê It is very rapidly
oxidized if taken all at once and is used for energy instead of growth.Ê If you are giving the medical food in one
feeding, your child will not be growing as he would if you were giving it in
three or four feedings.Ê It is not
complete unless natural protein (from foods) is given with it.Ê One mother feeds her child 1 to 2 oz. of
medical food every hour day and night when he is sick as a preventative measure
to keep him out of the hospital.Ê This
may not work for all children with MSUD.
Cardiomyopathy has been associated with selenium
deficiency.Ê In an area of China that is
severely selenium deficient, children die of cardiomyopathy.
Carnitine by mouth can cause diarrhea, but otherwise
large amounts are harmless.Ê
Pharmaceutical grade is very expensive and not likely to be given in
large amounts.Ê The percentage of carnitine
in the cheaper variety available in the health food store varies considerable
and it is not wise to buy it.
Selenium is toxic in large amounts.Ê It can be tested by measuring either plasma
selenium concentrations or the concentration of an enzyme in the red blood
cells that requires selenium to function.
There was a discussion on dental problems for
MSUD.Ê Here are some of the conclusions:
á
When held in the mouth,
formula (medical food) carries the same risk for dental caries (causing
cavities) as milk.
á
It is important to brush
teeth after drinking formula.
á
Some of the children
actually have good teeth÷flouride helps.Ê
Many have sensitive teeth for no known reason.
á
Families handled wisdom
teeth extractions differently.Ê Some
teens with MSUD had anesthesia; others were given locals.Ê One was on glucose IVâs for one hour prior
to anesthesia and extraction, during extractions, and one hour after
surgery.Ê She did very well.Ê Some teens were put on sick day formula
before extraction to prevent elevation of levels.Ê No serious problems were reported.
Questioned about B vitamins in the formulas, parents
were assured the Food and Drug Administration has an Infant Formula Act which
specifies the range of levels of vitamins that have to be put in infant
products.Ê The MSUD formulas contain all
the known required vitamins.Ê (It is the
amino acids and not the vitamins that make the formulas taste bad).
Some parents may not be giving their children enough
fat.Ê Your child needs some
cholesterol.Ê One doctor advised his
parents to switch their children from margarine to butter.Ê Over restriction of fat causes growth
retardation.Ê It is important to have a
balance of protein, fats and energy.
When there are symptoms of an impending illness,
increase carbohydrates (calories), decrease natural protein and continue the
formula even if you need to freeze it and give it as ice cubes.Ê Try to keep calories and fluid intake high
to prevent catabolism (burning muscle protein).Ê The child may need more sodium when sick, because the diet powder
is low in sodium.Ê Adding sodium to the
formula can cause serious problems, so check with your doctor.
Presenter: Emilio
Amigo, PsyD
Dr. Amigo is a licensed
psychologist who works primarily with children with ADHD or those involved with
abuse or divorce.Ê Life-sized outlines
the youth had traced of each other on paper were displayed on the wall during
Dr. Amigoâs presentation.Ê The families
could take these home.Ê These outlines
were created earlier in the day in Dr. Amigoâs workshop on self-esteem for the
teens and young adults with MSUD.
Dr. Amigo began by explaining the life-size outlines
the youth made in the self-esteem workshop he conducted.Ê The outlines identified their personal
boundaries.Ê To help them understand
self, they were asked to follow certain instructions.Ê For example, they put the names of family members and others
inside or outside the outline depending on how they felt about those
persons.Ê In various ways they
illustrated their attitudes, limits, choices, talents, desires, values, etc. on
the outlines, thus expressing how they felt about MSUD.
To illustrate the concept of esteem, they were to
connect a price tag to the body outline and put in the amount they thought they
were worth.Ê First he explained to them
that they were unique and one of a kind which is often valued as
priceless.Ê Some of the youth couldnât
identify with that.Ê Others thought they
were worth ãBIG BUCKS.ä
Practical Tips for Developing Your Childâs
Self-esteem:
á
Make one‑minute
connections with your child
á
Write love notes to your
child
á
Be a model to children
by taking an honest self‑look
á
Refrain from the use of
negative communications
á
Make a life celebrations
book÷each family member writing what they want to celebrate
á
Give your child a ãgiftä
every night
á
Use the human
touch÷hugs, pat, reassurance
á
Mutually tell stories
together with children
á
Share dreams you had and
dreams for the future
á
The paying attention
game÷see details, smell the roses
á
Play music
together÷donât need to be talented
á
Together visually plan
the next day
Know the top stressors in your childâs life; teach
them coping strategies.
Self‑affirm, then affirm your child÷donât play
the blame or shame game.
Help them set SMART goals÷Sensible, Measurable,
Attainable, Realistic, within a Time line.
Help them manage time.
Have them create a self‑journal: use a special
pen, use a theme.
Do art; read and listen to music together.
Instill positive memories; faithfully keep up photo
albums.
Foster healthy play.Ê
Maybe do something fun with food to balance the seriousness of food in
their lives.
Regularly interview each other.Ê Keep learning about your children because
they change.
Empower not overpower÷prepare them for life.
Teach them conflict‑resolution skills:
á
have a clear agenda
á
communicate a belief in
resolution÷can be resolved
á
one person talks at a
time
á
have empathy for the
other person
á
use ãIä statements
instead of ãyouä÷sandwich statements (positive, negative, positive)
As parents, be REAL÷model honesty, be willing to
learn,Ê be emotionally vulnerable, be
willing to not know the answer, share your dreams and sorrows.
Share the ãtop 5 things I want and needä with family
members.
Chronicle your childâs life÷keep things for them:
scrapbooks,Ê papers and drawings, note experiences
and accomplishments.
Have ãno reason at allä days.Ê Do something fun without a reason.
Create your own holidays like ãSon Day.ä
Celebrate a ãYou Dayä÷family honors one child all day.
Participate in family ministry and/or service.
Dr. Amigo answered questions from
the parents.Ê One question was: ãWhat
characteristics came out in your discussions with the children?äÊ He answered by naming several: Some of the
children viewed themselves as special because they have MSUD.Ê In the workshop they worked hard, took it
seriously, laughed a lot and helped each other.Ê They were concerned about who would see the outlines.Ê They seemed to be aware of the normal developmental
stuff for their ages.Ê They had a good
moral consciousness.Ê Most of them drew
their parents as persons who meant the most to them.
Presenter: Sara Kiel
Sara is the daughter of Carl
& Sandy Kiel from Jenison, MI.Ê She
is 9¸ years old.
Hi, Iâm Sara Kiel.Ê
I have a sister and 2 brothers.Ê
My sister Jenna, who is 5, and my brother Jesse, who is 3, have MSUD . .
. and then there is my other brother, Adam, who is 11.
It was scary when I first found out Jenna had
MSUD.Ê I didnât understand what it was
because I was only 4 at the time.Ê As I
grew up, I learned more about this disease and what Jenna could and could not
eat.Ê I also know that she has to drink
her formula.Ê In the last three years we
have had Jesse around the house, which not only means another pain but another
brother to drive you crazy.
Jenna has come to a stage where she started drinking
her formula out of a cup, and this year she got a new formula.Ê She gets stubborn and wonât drink it.Ê It is a pain to get her to drink and boring
to sit there counting every little sip she takes.Ê Now that Jenna goes to preschool, mornings just get a little bit
busier trying to get her to drink.Ê
Being a sister to Jenna and Jesse means telling baby-sitters what they
can and cannot eat, which formula goes to whom, and how to get Jenna to drink
her formula.Ê I have to tell my friends
about MSUD when they ask.
When either Jenna or Jesse goes in the hospital it
makes me feel worried, but I also feel happy for them because they are getting
the treatment they need.Ê It is fun to
go to the hospital because there are neat pictures hanging on the wall.Ê Near Christmas they have gingerbread
houses.Ê I also like to go to the
playroom, cafeteria, supply room, and the mezzanine.Ê The mezzanine has a stained glass sculpture that turns.Ê Itâs cool!
Mealtime at our house is different than at most,
because my Mom has to cook two meals.Ê I
like baking Lo Protein cookies and brownies with my Mom.Ê At supper time Jenna and Jesse usually eat a
potato, rice, or macaroni without the cheese and milk.Ê And they have to put ketchup on
EVERYTHING!Ê Going out to eat means
getting lots of fries and having Jenna beg for the pickle off everyoneâs
hamburger.
Some experiences I have had include mistaking Jennaâs
formula for my cup of milk in the fridge.Ê
The flavor gave me a little shock there!Ê I guess you get used to the taste after awhile.
To me, it is fun having Jenna and Jesse as a brother
and sister because at Halloween I get to trade my smarties for chocolate
candy.Ê Another fun time was when Jenna
and Jesse had their pictures taken for the Mead Johnson Special Kids
Calendar.Ê We got to meet photographers
from California.Ê On that same day I got
to skip school and go to the Mead Johnson formula company and see their formula
being made.Ê They gave us a tour, and we
all got a cool hat and other stuff.
In school Jenna is like anyone else except she brings
her own snack every day.Ê This year my
class read to Jennaâs preschool class, and I got teamed up with Jenna.Ê I read books and we did art projects
together sometimes.Ê We made a book
about her favorite foods.Ê Jennaâs book
included potatoes, macaroni, and pickles, of course!Ê Sometimes life gets a little bit crazy with formula and all this
MSUD stuff, but actually having people in the family who have MSUD isnât that
bad!
Sara was encouraged to honestly
tell how she felt about her siblings with MSUD getting so much attention when
they were sick.Ê Saraâs mother assured
Sara she wouldnât be mad or upset at her for her answer.Ê Sara admitted that it sometimes made her
ãMAD.äÊ She frankly answered a number of
other personal questions from the audience.Ê
Thanks for bravely sharing with us, Sara.Ê We parents wonder about the feelings of siblings, and it is wise
to tell us, even though we may feel quite helpless to change the
situation.Ê Sara did a great job with
her presentation.Ê She and the next
speaker, Vicki Delaski, were delightfully humorous.Ê
Presenter: Vicki M.
Delaski, MS, LSW
Vicki is the mother of a son with
autism and a daughter from whom she has learned so much about sibling
issues.Ê She supplied the following
article in which she covers the key points of sibling issues.Ê This is not a summary of the speech she gave
at the Symposium, but it covers the same issues.
To understand issues that may arise between siblings
and the brothers or sisters with disabilities, we must first look at sibling
relationships in general.Ê Our siblings
know us better and longer than anyone else we will ever know.Ê Our parents will know us about 40 to 60
years, and we wonât share everything with them.Ê As a matter of fact, if youâre like me, there will be quite a few
things they will never know, or you would still get a
spanking.
Sibling relationships, on the other hand, can last up
to 80 years.Ê Our siblings are the
people we experiment on with our new found talents (like lying, and the left
jab or karate kick we saw on TV last night, OR our first batch of cookies, and
the discovery of makeup).Ê We laugh, we
cry, we fight, we celebrate, we mourn, and we share our deepest thoughts,
feelings, secrets and fears with our siblings because of the bond that is there
from the beginning.Ê They are our first
social network, and we learn how to interact with others through our
interaction with them.
Do we always get along with our siblings?Ê No way!Ê
Do we always love them?Ê
Yes.Ê Do we always know that we
love them, or they love us; or are there times in our relationship that we are
sure we hate them or they hate us?Ê Do
our siblings embarrass us or we them?Ê
The answer to all these questions is generally÷yes!Ê Siblings and our family are the foundation
on which we build our self‑concept and our people skills.Ê They are the gauge by which we measure our
successes and our failures.
NowÊ letâs talk
about the relationship between siblings and their brothers or sisters with
disabilities.Ê The relationship and all
the emotions are the same with one difference.Ê
The disability has a way of magnifying all emotions, especially guilt at
feeling any negative emotion like embarrassment, anger, jealousy and
resentment.Ê The research states that
about half the siblings feel that having a sibling with a disability was the
worst thing to happen to them, and half feel it was the best.Ê So, how, you might be asking yourself, do I
know if there is a problem, and how do I solve it?Ê Each child and situation is different, so there is no one way to
tell if a problem exists.Ê
Some identifiable warning signs are listed below.
¯
Depression: change in sleeping or eating habits, a sense of
helplessness or hopelessness, continued irritability, has a difficult time
concentrating or making decisions, may withdraw from social situations, doesnât
seem to have any fun any more, and is negative about themselves or talks about
hurting themselves.
¯
Anxiety: worries a lot, an increase in energy level without
purpose, cries easily when frustrated, problems sleeping, worry about the
health of family members, may have lots of headaches or stomachaches, and may
be a perfectionist.
If you notice several of these that last two weeks or
longer, you should discuss it with your pediatrician or a mental health
professional.
Each child is an individual and will display signs of
stress, confusion, embarrassment, jealousy, resentment, anger, loneliness,
guilt and fear in a different way.Ê Tom
may become verbally and/or physically aggressive if someone teases him about
his brother, but Ann may become introverted and shy.Ê When there is a crisis at home, grades may go down and bad
behavior may go up.Ê Watch, listen, ask
questions, talk to them, their teachers and their friends.Ê Generally be involved and show an interest
in their lives, so it will be easier for them to come to talk to you about
their feelings and any issues or questions.
This brings up the question of how much to tell their
teachers about the sibling with the disability.Ê If there is a crisis, and the teacher is not aware of issues in
the family, they cannot help you watch for symptoms that the student is having
a problem.Ê I canât stress enough the
importance of keeping teachers informed and using them as resources.
Now, letâs say you think there might be a
problem.Ê We all want to believe that we
are the parent, and that our children will come to us if they have a problem or
question.Ê However, many children donâ t
know what to ask or how to ask it.Ê They
may feel that if they ask, it will make their parents feel bad, angry,
disappointed or sad.Ê The one thing they
donâ t want to do is add to the problem or situation.
The key to improving any relationship is
communication. The best way to show that it is okay to talk about feelings is
to model that behavior.Ê Children may
not always do as we say, but will generally do what they see us do.Ê Let them know that negative feelings are not
bad but are normal.Ê Feelings are not
good or bad÷they are just feelings and we donâ t have a lot of control over
them.Ê We can only control how we react
to them.
Be open and honest.Ê
Spend special time with each child. Remember fair in the eyes of
a child is much different than fair by adult standards.Ê Evaluate the expectations you have of each child,
and donâ t forget to let them just be kids once in awhile.
Siblings need to talk about their feelings in a safe
environment.Ê That environment is viewed
as safe using their eyes not ours.Ê This
means that it may not be at home or with friends, but with peers who are going
through the same thing.Ê Check with
agencies in your area to see if there are any sibling support groups or
workshops you and the child can visit.Ê
If not, look into starting one.
RESOURCES:
Sibling Information Network
Department of Educational Psychology
Box U‑64 The University ofÊ Connecticut
Storrs, CTÊÊ
06268ÊÊÊÊÊ (203) 486‑4034
Powell, T.H. & Gallagher, P.A. Brothers and
Sisters: A Special Part of Exceptional Families.Ê Baltimore: Paul H. Brookes Publishing Co., Inc., 1993
First Presenter: Loreto
Ilabaca, Chile
Loreto is Chilean and speaks
Spanish.Ê Although concerned about her
English pronunciations, she did well when she gave her talk.Ê She sent the following article for the
Newsletter giving a little more detail of her experiences.Ê It was written in Spanish and
translated.Ê Several health care
providers translate our Newsletter for their Spanish-speaking families.Ê I can send copies of this article in Spanish
on request.
In her talk she mentioned there
were six cases of classical MSUD and four intermittent (including her two
children) in Chile.Ê One with
intermittent MSUD died last year.Ê It is
very hard for these families because of the lack of good hospitals and
doctors.Ê Special foods and formulas
need to be imported and most families cannot afford the cost.Ê Without the formula, the children eat only
one meal a day and that is only vegetables.Ê
These children have many physical problems.
I am from Chile and the mother of two children with
intermittent MSUD.Ê Claudia is 14 and
Christian is 12.Ê The two children were
born normal.Ê When they were around two
weeks old, they were diagnosed with severe Gastroesophageal Reflux.Ê The doctors tried to correct this by using a
postural treatment÷sleeping with their cradle at a 40-degree incline.Ê Because of the reflux, the children were
always vomiting so much that I became accustomed to it, and it didnât bother me
very much.
In December 1983 Claudia had her first vomiting crisis
at 18 months.Ê She was very sick.Ê They did much testing, but the results
didnât show anything strange.Ê The
doctors thought it was just a virus.Ê
When the vomiting didnât stop, they had to pump her stomach.Ê When she started to recuperate, they
hydrated her by giving her a spoonful of water every five minutes.Ê This crisis lasted about four days.
The following year on the same day in December,
Claudia had her second crisis and Christian, his first crisis.Ê He was 10 months old.Ê They gave new tests to the two children, but
the results didnât show anything strange.Ê
The doctors told me they both had a virus.Ê They hydrated them the same way as before.
The next December the children had vomiting crises
again, repeating the experience of the previous year.Ê Again we didnât find the cause of the crises.
Claudia didnât repeat these episodes until 1992 when
she was dehydrated, and they had to give her serum.Ê She has more enzyme activity than many MSUD, and so does not have
as many problems.Ê She learned she
should be very careful with her diet when she is sick.
Christian began to repeat these episodes.Ê Some of them were caused by a viral
sickness, during which he had to be hospitalized and given glucose serum,
because he was totally dehydrated.Ê This
made the pediatrician suspicious of Ryes Syndrome and asked if Christian would
undergo a series of tests.Ê The results
were negative.Ê Christian repeated these
crises for some months after he had these tests done.Ê The pediatrician didnât understand what was happening, because he
couldnât find the cause for these episodes.Ê
Many times they werenât accompanied by any contaminating illness and the
results were always negative.
In February 1992 when Christian was eight years old,
after various episodes in a short time, he had a very bad crisis with major
head and abdominal pains.Ê He was
dehydrated and they had to give him serum for many days.Ê The treatment didnât have any effect, and
each day he got worse.Ê They took a Cat
Scan because of his bad headaches, and the results were normal.
The pediatrician suspected that he had a metabolic
illness because of the characteristics of the crisis.Ê He asked if he could give more specific tests.Ê They sent Christian to a specialist for
metabolic diseases.Ê She took another
series of tests and diagnosed MSUD.Ê
They sent samples of Christianâs blood to a Biochemical Genetics
Laboratory at the University of Colorado Health Sciences Center in Denver.Ê Twenty-one days later we received the
results from the U.S.A. confirming the diagnosis÷MSUD Variant, R10 E3
deficiency.
At this time, Christianâs life and ours changed
drastically.Ê Christian, who consumed a
great quantity of protein in his daily diet, was now put on a low protein
diet.Ê For eight years he had lived as a
normal child and now had to learn to eat differently÷things that he didnât
like; and he didnât like vegetables.Ê
For Christian, this has been very difficult.Ê He is a very brave child and makes great efforts to try to accept
what has happened.Ê However, many times
he gets depressed, because he feels different and canât live the life that he
lived before.
In Chile there is only one center where they can
diagnose this illness.Ê Every time we
went there, we were very depressed and became very sad.Ê When blood samples were sent to the U.S.A., many
times the results didnât return for two months.Ê I was thinking that this is not useful.Ê One day I decided not to take him there anymore.Ê I thought I could control his diet, and that
everything was going to be OK.Ê I would
be eliminating a suffering experience for Christian.Ê I spoke with the pediatrician and he told me it was my decision.
Our life changed a lot during that period.Ê I think Christian felt happier not having to
go to that place, and that comforted me.Ê
During those months he had various crises, but they were very small and
didnât last long.Ê With the help of the
pediatrician they went away quickly.Ê In
November 1995, Christian became very sick, vomited a lot, had bad headaches and
abdominal pains that led to dehydration.Ê
They had to give him serum at home.
This crisis lasted five days, but he began to
recover.Ê He was well for four days, and
then had another crisis worse than the first.Ê
He was very sick, continuing to vomit a lot, was dehydrated again and
had to be hospitalized.Ê They gave him
serum and we had to wait.Ê I didnât know
what to do when I saw him.Ê They told me
I had to wait.Ê I felt very alone and I
didnât understand and I didnât know if what we were doing was right.Ê I didnât have contact with other mothers,
and I felt terribly guilty for not having been more in control.
They had to take more tests and again the specialist
told me that Christian had high levels of leucine, isoleucine and valine.Ê They didnât want him to leave the hospital
because the diet that had worked before wouldnât work anymore; he was growing
and his metabolism was changing.Ê
Fortunately, he recovered.Ê When
we left the clinic, he began a new, stricter diet than before.Ê He began to take Ketonex-2.Ê He hated it, and we fought a lot to get him
to take it.Ê They also gave him
carnitine and thiamine.
I was feeling very badly one day when speaking with
the pediatrician.Ê Then he told me that
he had found the name of this association on a computer program referring to
this strange disease.Ê He put me in
contact, because he thought it was the only place where I could find answers to
my questions÷with parents who felt as I did.Ê
I didnât doubt him and I called Peter Shaffer.Ê I told him my history and he told me that he would send me information.
In February of this year I received my first
Newsletter.Ê I felt so happy reading the
experiences of other parents who felt and lived like me.Ê I wrote immediately about attending the
Symposium.Ê In May, I spoke with Sandy
Bulcher, and she asked me if I would tell my experiences.Ê I accepted immediately.Ê I was a little frightened because of my
English, and I worried that no one could understand me, but I wanted you all to
know my children and our history.
I also wanted to tell you that it was a marvelous
experience, to be able to share with you my fears, sorrows, doubts, and to see
the pretty children.Ê For the first time
in these difficult four years, I could speak with you and you would understand
me, and not look at me as if I were from another planet.
I want to thank Dave and Sandy Bulcher for having me
at their home and making me feel as if it were my home; also Wayne and Joyce
Brubacher, Phoebe Saunders, Brenda Wenger, Tanya and everyone else who helped
me.Ê Unfortunately I canât remember everyoneâs
name.Ê Thanks to all of you for giving
me the opportunity to meet you.Ê I feel
that in two days I learned more than I was able to learn in four years.
I am a very overprotective mother.Ê When I left Chile I was a little worried
because I didnât know what would happen in my absence.Ê When I returned, I was very happy and felt
at peace with myself.Ê I could feel
assured that everything was all right, and I could do things that only mothers
can do.Ê My children understood
this.Ê I want to say thank you to Joseph
Balinsky, because very recently he told me that the best gift I could give my
children was to teach them to be independent.
Second Presenter:
Rosemary Whitney, Australia
Rosemary began her talk with an
interesting description of her homeland, Australia.Ê It sounds like a varied and fascinating land that Wayne and I
hope to see someday.Ê The description of
Australia was eliminated from this article÷one of the disadvantages of not
attending the Symposium.
The following article tells of
Rosemary Îs experience with her 20-year old daughter, Samantha (Sam), who has
MSUD.Ê Samantha gave an engaging and
candid account of her experience with MSUD following her Motherâs talk.Ê However, I have chosen to keep Samanthaâs
talk for the next issue of the Newsletter.Ê
(See ãPersonally From the Brubachersä for an explanation.)
My name is Rosemary Whitney and I am from a town
called Nowra, which is on the east coast of Australia, about 180 km south of
Sydney.Ê I will be talking about
Samanthaâs original diagnosis, the support and care for MSUD in Australia, and
Samantha during illnesses.
I am here today because my daughter Samantha is an
MSUD sufferer, in fact, the first to be diagnosed with classic MSUD in
Australia.Ê Samantha and I are very
fortunate to be here at this Symposium, which has given us the opportunity to
meet other people who face the same problems.Ê
This is a new experience.Ê
Neither Sam nor I had ever met another person with MSUD!Ê There are only four classic MSUD sufferers
in New South Wales (NSW), and eight who have a milder form (the population of
NSW is six million people).Ê I was told
the total of MSUD sufferers in Australia is approximately 20.
The following bit of information I received from Dr.
Bridget Wilken (Samâs doctor).ÊÊ Apparently 20 years ago they didnât have
good facilities for diagnosis, and were using, initially, thin‑layer
chromatography and an amino acid analyzer that took 19 hours of running time to
analyze a single sample.Ê The organic
acids in the urine were analyzed by a laboratory in Montreal, and Dr. Scriver
(most of you will know him, I believe) responded with a letter about the
analysis.
I will now tell you a little about how I knew I had a
very sick baby.Ê Samantha was a full term baby and seemed
well at birth.Ê About the 3rd or 4th
day, I was having trouble breast feeding her (she seemed to tire so easily).Ê However, by the 5th or 6th day she was
covered with a most dreadful rash, and was very hard to even wake up.Ê I remember telling friends who came to see
me and my baby, that she was the baby in the nursery with her hand in the
air.Ê (I just thought she was so very
clever, not realizing that she was convulsing!)
Samantha was quickly transferred to Intensive Care,
where I believe she had a cardiac arrest.Ê
She was put on a ventilator and then transferred to a special Childrenâs
hospital.Ê I was told to shake hands and
say goodbye to my baby, as she would not last the night.Ê Samantha then hovered between life and death
for a couple of weeks, as they tried to find what was wrong.
I guess I am somewhat vague about all the events that
happened during this time.Ê I was a
first time mother, and, needless to say, it was an extremely stressful time as
well.Ê Doctors and dietitians explained
about her diet, condition, etc.Ê I was
allowed to take her home when she was about three months of age, being told not
to expect her to reach five years of age.
Care is available for MSUD in Australia.Ê Care for
MSUD, Dr. Wilken told me recently, is now comprehensively available from five
centers around Australia: Brisbane, Sydney, Perth, Melbourne, and
Adelaide.Ê The diagnostic tools are very
sophisticated.Ê Six reference
laboratories in Australia will receive samples of all suspected cases, and can
do urgent analysis within hours.Ê
Dietetic care is overseen by the five clinics.
Also of interest, is that the laboratory in Sydney
does some work for the genetics service in Manila (Philippines), and they have
found 20 cases of MSUD from Manila in the last three years.Ê These patients are hard to manage and not
all have been able to have proper treatment with amino acid supplements, which
are not readily available there.
Samantha generally attends the PKU clinic at the
Childrenâs Hospital, formerly near inner Sydney.Ê It is now moved to the Western Suburbs of Sydney, because of the
rising population in the outer Sydney areas.
Sadly, Samanthaâs very special doctor, Dr. Toney Lipson, passed away in March this year; this was very sudden, and