Ohio Support Group for Families Living with Galactosemia
Galactosemic Families of Minnesota
Parent's Networking
Thanks to Karen Allen, an Ohio Support Group for Families Living with Galactosemia has been formed. The first get together was in February in Columbus, OH.
The day was incredible! This was a fun and informal
get together with 19 families from all over Ohio being represented.
The families had children with galactosemia ranging in
ages from newborns to their 30’s. For many parents
this was the first time they had ever met anyone else raising a child with
galactosemia. Information, tips, ideas, laughter
and stories were exchanged by all.
The food was outstanding and all lactose free. Jackie
Hutchison had mouth watering, homemade cookies and treats as well as numerous
wonderful lactose free items for all to
try.
The enthusiasm for the National Conference was great. Topics were suggested. It seemed nobody wanted the day to end.
Everyone is looking forward to the next meeting.
Twenty-three adults were in attendance and there were thirteen families represented at the meeting on Saturday, April 17, 1999.
The tax exempt process is completed and we have a tax
exempt number. We also have our brochure completed. The
brochures were distributed to the families to use when
asking for donations from businesses and/or individuals.
The University of MN Hospital staff will also hand out these brochures
to families who come to the clinic for their
appointments.
Someone in our group created a directory of all the families
in MN (We also have families from IA, WI, and ND in our group.).
The directory has a photo (if supplied) as well as
the information on our mailing list (name, address, phone
number, e:mail, names of children, etc.) .
Funding is a topic that will be discussed at our next
meeting. Several families recommended that we need to have a cause
or purpose for fund raising before we can go out
asking for donations. At the next meeting, our
group will be discussing some fund raising ideas.
One family explained that there is a need to inform television
networks, magazines, clinics and hospitals about galactosemia and the importance
of the newborn screening
tests. Check out the Tyler for Life website at
www.tylerforlife.com for more information and the story about Tyler's life.
The group recommended having a food technology specialist present at our April 2000 meeting. Some families brought recipes and information to share.
The next meeting will be on Saturday, September 25 in
the Twin Cities. It will be an informal meeting and lots of time
for social activities and interaction. We will be having the
election of officers at the next meeting also.
What is the difference beween Duarte and Classic Galactosemia
Each of us has two genes at the Galactose-1-Phosphate
Uridyl Transferase Loci. If someone has classical (GG) each gene
product has no enzyme activity. Those that are
normal (NN) have 100% normal activity. Those that
are duarte at both loci (DD) have approximately 50% activity. If
they are GD (one classical galactosemia gene and one
duarte gene) they have gene products with about 25% or
less of normal activity. These children may also be picked up at
birth on newborn screening.
Andre
Greetings! My son Andre was 13 last December and has galactosemia. We have read your newsletter for years and this message is for the newsletter.
As galactosemic children go, Andre has been severely affected
with the secondary problems we associate with our kids. Namely, speech
and language delays, poor cognitive
development and behavior problems.
Recently Andre has also been diagnosed as being Autistic.
Andre’s school progress has been so poor that I initiated a re-evaluation
at the University of Michigan. From the
little that I have learned about autism it seems to fit
Andre’s situation. This has lead to a new school and a program specifically
set up to serve the autistic child. We are very
hopeful that Andre will finally get the help he needs
to be his best. The doctor is also trying behavior modification medications
to see if that will also help. For years we have
contacted others like the University of Wisconsin, Andre
participated in the five year Uridine Study, for help with Andre’s lack
of progress.
Perhaps other parents with the same needs will ask their
doctor to look closely at autism. The very frustrating thing is with
all the professionals from three major University
Hospitals no one mentioned or looked at autism as a possibility.
Again this gives us hope that Andre will finally be in a program that serves
his special needs. We love him
dearly and he is truly a special child (as all of our
children are). I hope that in some small way this information may
help other families.
Sincerely,
Richard Krist
Parma, MI
Vitreous Hemorrhage
I recently received the newsletter by PGC. I was
compelled to write because of the recent children that have vitreous hemorrhages.
My son is now 19 and has Galactosemia.
When he was born he also had one eye with a cataract
and a vitreous cloudiness in the eye. There was never any reference
to me by his doctors of the term although he had
corrective surgery at the time that was only known to
be done on diabetics with vitreous hemorrhage. This surgery was done
at 3 months of age by Dr. Duain Fuller of Texas
Retina Assoc. in Dallas, Texas. I need to share
the outcome with you and other parents to let them know whether this is
something they wish to explore for their child.
When my son had this problem no one knew at the time that
it was a complication of Galactosemia. The surgery was quite new
and had only been done for the 5 years prior.
We were defiantly in the unknown territory. The
surgery involves taking the cloudy vitreous fluid out and replacing it
with clear fluid. The eye then makes its own clear fluid.
When the surgery was done the doctor decided to leave
the cataract covered lens and not remove it. The cataract looks like
the shape of a snowflake.
After the surgery we went through patching the good eye
to build nerve pathways to the weaker eye. This was all done with
contact lenses. You can only imagine how
difficult this was for a child this young. We started
with contacts at 7 months. One contact was black to patch the good
eye for a period of time during the day. This patching
went on in various forms; we tried the bandaid patch,
glasses for a short time with a contact on the weaker eye. I can
only say it was a trial. We discontinued patching earlier
than we could have because of numerous other learning
disabilities.
My son’s vision in that eye stabilized at 20/100 with
a contact lens on. With this large difference in vision between both
eyes he no longer wears a contact on that eye and
does not use this eye for vision. This surgery
and patching was only intended to obtain vision in his weaker eye in case
he should lose vision in his good eye. In other
words, it is a 'spare tire eye'. His eye turns
in slightly but is barely noticeable with glasses on. You would never
know he does not use this eye, and at least if his good eye
were to lose some vision he could see something.
My son also suffers from diabetes that he developed at
16 months. His diabetes had nothing to do with this eye problem which
occurred at birth. Actually because of
complications of diabetes, namely vitreous hemorrhage,
I feel we made the right decision at the time. If he were to lose the vision
in his good eye, he could at least use his
weaker eye for some things and not be totally blind.
I hope this helps other parents.
Sincerely,
Beth Cook
Columbia Falls, MT
National Metabolic Disorder Meeting Held
On March 19, 1999 there was a national meeting of concerned individuals to discuss issues involving metabolic disorders and newborn screening. The meeting was moderated by Trish Mullaley, a PKU Parent and founder of the New England Connection for PKU, and by Sandy Bulcher, a MSUD parent from Ohio. In attendance were parents representing PKU, MSUD, homocystinuria, HCU, organic acidemia, and galactosemia. Also present were professionals directly involved in the metabolic field. Representing galactosemia was Tera Mize, whose infant son died last year from direct complications of undiagnosed galactosemia.
Many problems with the current newborn screening systems
were discussed including batching of tests, transporting the tests from
the collection site to the lab, hours of lab
operation, repeat testing procedures, qualified physician
follow-up, early discharge issues, and screening procedures of military
bases. Roger Eaton of the Massachusetts
Newborn Screening Program was present to answer some
of the questions regarding the system in Massachusetts. Also present
at the meeting was Dr. Richard Koch, one of
the leading doctors in the metabolic field, who talked
in great detail about the potential improvements that could be made to
better the system.
Ideas on how to help in improving the present system and
education of the public about metabolic disorders included forming a national
organization dedicated to these
issues. The group voted to form this new organization
and it is being called the National Coalition for PKU & Allied Disorders.
This new group is currently being set up and is
expected to be fully operational this year. Some
of the goals for the organization are to promote national efforts to improve
awareness of metabolic disorders, advocate for
expanded newborn screening, establish a National Newborn
Screening Day to be observed each year, establish treatment guidelines,
and to provide research for treatments
and cures. The group will consist of individuals,
families and professionals interested in issues regarding inborn errors
of the metabolism which require a low protein diet.
Although, galactosemia is not one of the advocated disorders
for the group, their efforts for betterment of the overall system will
benefit families affected by galactosemia as
well.
Another hot topic at the meeting was expanded screening
using tandem mass spectrometry. Tandem mass spectrometry is a relatively
new method of detecting inherited
metabolic disorders, which can detect many more disorders
than conventional methods do. This testing method is said to detect
over 30 metabolic disorders, many of which
are not currently detectable through any other method.
Some states are already offering expanded screening through pilot studies.
The results of these pilot studies will affect
the decisions of many other states that are keeping a
close eye on the effectiveness of expanded screening. There are also
some hospitals voluntarily offering expanded
screening through private laboratories. This 'supplementary'
screening is in addition to the mandatory disorders screened for in their
state. NeoGen and Walac, Inc provided a
professional overview of tandem mass spectrometry.
NeoGen is a private laboratory that presently uses the tandem mass screening
method and Walac, Inc. is a company that
manufactures the machines that perform tandem mass screening.
A conference was held the following day by the New England
Connection for PKU & Allied Disorders. Sandy Bulcher spoke at
the conference regarding the issues discussed
from the meeting the night before. She also discussed
the forming of the national organization and its mission. Other presentations
were on gene therapy research,
development of diet supplements and the need for expanded
newborn screening.
In closing, much was learned at this meeting. It
can not be emphasized enough how important a role parents and parent organizations
play in the process of improving
screening and treatment procedures. It is a slow,
exhausting battle that must be fought unceasingly as better screening techniques
and treatments are developed. Regardless
of what disorder or group that a person chooses to support
and be active in, together we can make a difference in the lives of families
living with metabolic disorders, and in
the lives of families still yet to be affected . . .
as we all know can happen too quickly.
Tera Mize
Tyler For Life Foundation
www.tylerforlife.com
Tremors in Galactosemic Children from a Parents Perspective
WHO I AM
I am the founder of Parents of Galactosemic Children.
Fifteen years ago when my son, Adam, was born with galactosemia, I discovered
that no support network existed for
galactosemic parents. Our metabolic clinic in New York
(at the time) agreed to send letters to other families for me, through
that I met Jane Wicks and Laura Norych. We found
that there were only a handful of us and decided that
we would have to go national. We sent letters to clinics across the United
States and asked them to photocopy the letters and send them to galactosemic
parents. Gayle Dennis, Christine Kovach and Barbara Sprow were among those
parents who responded to this letter campaign. From there, we formed Parents
of Galactosemic Children.
I was intensely involved with PGC for ten years, then
life's circumstances led me down a different path. Fortunately, Gayle,
Christine, Rhonda and others have continued to
make Parents of Galactosemic Children the respected,
informative and national support network it is today.
ADAM
Adam (15) is one of our three children. He has an older
sister, Melissa, who is seventeen (you can see her article this newsletter)
and he has a twin sister, Allison. Both girls are
carriers.
I believe Adam to be one of the most severely affected
galactosemic children. He has an IQ of 73 (70 is considered mentally handicapped).
He also has an expressive language
delay, low muscle tone in his shoulders and arms, and
tremors, which he developed when he was about four years old. Adam was
diagnosed at 8 days after being extremely
affected and being transferred to a Neonatal Intensive
Care Unit.
Adam is a sweet, happy child with an engaging smile. I
often refer to him as my "love child," because he is full of love and doesn't
have a mean bone in his body. At 8 months,
Adam was tested and enrolled in an early intervention
program for speech, physical and occupational therapies and special ed.
He has been in special ed classes through
school and through these classes, we have met some
of the most compassionate, wonderful people one would ever want to meet.
THE TREMORS
DEFINITION: Tremor is a rhythmic, involuntary muscular
contraction characterized by oscillations (to-and-fro movements) of a part
of the body. The most common of all
involuntary movements, tremor can affect various body
parts such as the hands, head, facial structures, vocal cords, trunk, and
legs; most tremors, however, occur in the
hands. Tremor often accompanies neurological disorders
associated with aging. Although the disorder is not life-threatening, it
can be responsible for functional disability and social embarrassment.
There are different types of tremors: I have been told that Adam has Kinetic or Intention tremor which occurs during purposeful goal-oriented tasks, for example finger-to-nose testing.
TREATMENT
Through occupational therapy Adam has learned how to
do tasks despite his tremors. About three years ago, I came upon an article
that said tremors could be treated with
medication. We went to a neurologist and after a number
of tests including a CAT Scan, decided to try medication. NOTE: Through
the years Adam has undergone a number
of neurological tests and examinations, which have shown
abnormalities in the brain, often referred to as "white masses."
The medication recommended was Enderol. This medication unfortunately contains lactose, so we found a pharmacist who first "made" it in a lactose-free liquid form and more recently in a lactose-free capsule. The medication has helped somewhat, but we continue to be dissatisfied as his tremors are still apparent and sometimes difficult for him to deal with. On the advise of his current neurologist we have made an appointment with a neurologist who specializes in Parkinson's disease at Miami Children's Hospital, in the hopes that there might be a medication that might work better. Unfortunately, for purposes of this newsletter, the appointment is next month.
HOW WE DISCUSS TREMORS
We have always been open with Adam and all our children
not only about his tremors but his other disabilities and of course, diet.
We have told Adam that because of the
galactosemia his hands shake. He doesn't like it, which
is why we continue to look for ways to make it easier for him.
We also point out the numerous things Adam can do, including
typing on the computer for hours, he emails and "instant messages"
friends and family. (He loves to receive
email: Abenm@aol.com). He can search the internet better
than anyone in his family. He is a whiz at Nintendo 64 and Sega, which
confounds not only us, but the experts.
DOES YOUR CHILD HAVE TREMORS?
I think we should pool our information. If your child
has tremors, please contact me (see below). I feel that by doing this,
we might come up with a better understanding and/or
treatment for tremors in galactosemic children. If there
is a physician, who has experience in this area or who is interested in
this topic, I would ask that you also contact me.
Linda Manis
1189 Hillsboro Mile #11
Hillsboro Beach, FL 33062
Ph# (954) 429-0377
e-mail: LMScript@aol.com
Fax#: (954) 429-2781
Linda Manis has also written a story/book about galactosemia
but she needs an illustrator. If you are talented in this area and interested
please contact her.
To All The Mothers Like Mine
A long time ago, as the story goes.
A child was born with ten fingers and ten toes
Two arms, two legs, eyes, ears, mouth and nose
And the mother loved her...
The professionals said wait, something is not right.
Your child is different and quite a sight
One leg longer than the other and club feet
Facial paralysis. Yes, your child’s incomplete.
But the mother loved her...
She is nothing more than a blob they did say
Can’t walk, can’t talk, she is in the mentally impaired
way
Yet the mother still loved her...
Years have gone by and you should see
the result of my mother’s belief in me
I have two legs and two feet that can walk
A mouth that can talk talk talk
Two eyes that can intellectually see, and have allowed
me to earn two degrees
Because my mother loved me!!
To all the mothers like mine, thank you for following
your heart and believing in the possibilities.
Inadvertant Life Lessons By Melissa Manis
Being the sibling of a galactosemic child has been both inspiring and heartbreaking, seeing my younger brother overcome so many things, and yet watching him lose out on so many others has been an intense contradiction in my life. My name is Melissa Manis, I am seventeen years old, and my younger brother Adam has galactosemia. As far back as I can remember I have been overtly conscientious of special dietary needs and activities that could never be a part of Adam's life. By looking at what could not be done I never noticed what he could do. Adam got to eat special food, and go to special doctors, he got to go to a special school program, and the realization came to me that Adam was a special kid. Adam views the world from a perspective I will never come to know.
I learned to look at the world from a different angle because of Adam. Although, he doesn't know it, by being Adam, he has taught me about himself, and children like him. My younger brother inadvertently teaching me life lessons, I know itdoesn't sound plausible, but here is an example. If you were to turn to Adam and ask him what he wanted to do on a Saturday afternoon most likely the answer you would receive would be "I don't know," accompanied by a big knowing smile. Adam is always smiling, it's like he knows a secret, he taught me to smile, to smile in doubt, in fear, and in happiness. Adam smiles through them all and every now and then I will catch myself doing the same.
Adam has accomplished so many things in his short
life, and won the hearts of countless people. I don't know quite how to
explain Adam's personality but somehow people
gravitate around him. I've never looked at Adam as being
very outgoing or a loud character, but when I look at the infinite number
of lives Adam has touched it makes me look
at myself and question if I too share these qualities
and wonder how I can measure up to the impact embedded within so many people
by my younger brother.
I think that the answer is love, unconditional love,
a topic which I have learned so much about from being the sibling of a
galactosemic and disabled child. I think that I am a
better, more understanding, and patient person because
of Adam. Adam has forced me to constantly evalutate myself in terms of
my treament and judgement of other people.
Adam is an exceptional child and I have learned so much
about the kind of person I am, and want to be from him.
Dan Lambert is doing a great job with the Pen-Pals!
The Pen-Pals are for children, teenagers, or adults with galactosemia as well as the parents of anyone with galactosemia.
If you would like more information or would like to be a pen-pal contact:
Dan Lambert
PGC Pen-Pal Coordinator
1936 Cottonwood Dr.
Aiken, SC 29803
e-mail: dlambert@scescape.net
As you will recall in our last newsletter we were seeking help in some specific areas.
Thank you to those of you who responded!!
Student Requests: Barb Bense agreed and is already doing a great job responding to the challenges of answering the Student Requests.
ACT Data base: Eric Graeber agreed to and
has done an outstanding job at taking on the huge task of getting
and keeping the ACT Data base in order. However, all address
changes and new addresses should still be sent to 2148
Bryton Drive, Powell, OH 43065.
E-mail Roster: Therese Cozzo took on the
e-mail roster request. Therese put together a great e-mail roster.
A copy for everyone is at the end of this newsletter. If you are
not
included on it but would like to be, e-mail your information
to Therese:
tfcozzo@home.com
Duarte Variant Chairperson: We
are still in need of a Duarte parent to fill this position. Again
this would involve being the main contact person for parents of Duarte
children Possibly writing an article for the newsletter,
but mainly being there to talk with new parents of Duarte variants.
Vances Darifree Non-Dairy Beverage
Vance’s is fat free. It contains as much calcium
as milk, and is also a good source of vitamins. It is cholesterol
and lactose free. It is free of soy, rice, corn oils and MSG and
it
has a tasty vanilla flavor. It can be used for
drinking, cooking, and baking and is great for use on cereal in place of
coffee rich or coffeemate liquids. It comes in a 7 oz package
which makes 2 quarts and cost is $2.92. It is also
available in a 5 lb jar that costs $25.00; I personally recommend
the 5 lb jar as the shelf life is a minimum of 1 year and if used
frequently, it is more economical to get it this way.
This information actually came from PKU mom, Nancy
Rogers.
Lactose Free Chocolates
Illinois Nut Company & Fantasia Chocolates have great
lactose free chocolates for any special occasion or just everyday use.
You can contact them for a brochure and price
list at:
Illinois Nut Company & Fantasia Chocolate, Inc
3745 West Dempster St.
Skokie, IL 60076
Phone: (847) 677-5777
1-800-590-NUTS.
Fax: (847) 677-5778
E-mail: illnut@aol.com
Tyler for Life Foundation
Dallas and Tera Mize have put together a great foundation
to raise awareness of inborn errors of the newborn, which of course includes
galactosemia. You can visit this great
web site at:
www.tylerforlife.com
Great Networking Site for Parents
Ken Herndon has put together an outstanding web site
for parents to exchange ideas, information, and stories of raising children
with galactosemia. To find it and particiapte,
or just read, go to
www.galactosemia.com
Web Site for Recently Diagonosed
this is a nice web site for people that have been recently
diagnosed.
www.ahsc.aarizona.edu/~msrgsn/pract/prac21.htm
PGC Web Site
If anyone has suggestionas or information for the PGC website please email that information to Nate Bauer at bauer@cy-net.net or Bill Cozzo at cozzo@home.com. We are especially interested in website links for metabolic clinics, any researchers, and state newborn screening sites.