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Welcome to WWW.GA1.Freeservers.com
Updated, June 2002
In
memory of Allison
Allison, our baby girl
1993-2002 Allison passed away May 25, 2002. We miss her smile, her awesome personality, and absolutely everything else.
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Glutaric Aciduria type 1, also
referred to as Glutaric Acidemia type 1, GA1, or GAT1.
I created this site, with an easy to remember name, and more direct to find in
search engines as a starting point for GA1 info.
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Please remember, I am not a doctor, and I do not play one on the Internet. All information provided here is from my personal experience with my Daughter, a Glutaric Aciduria type 1 patient. Consult your doctor regarding medications and formulas.
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Feel free to email me with questions or comments
You are visitor 
since February 2000.
International list of Doctors who have submitted or
contributed to GA1 articles in Medical journals. These doctors would be a good
starting point, since they have at least seen a patient with GA1. I have compiled
this list from articles at the NIH, and I have no knowledge of these doctors,
or their qualifications, or abilities, except for Dr Morton.
In the links section you can go to the
National Library of Medicine, and find GA1 articles. They each usually include
a number of Doctors, I only listed the lead doctor, from a select number of
articles. I did list every country represented. If you have a doctor for my
list, please send me the info. The articles often refer to each other as
references, and include very little practical info for parents, but
as I had to you have to try to learn all you can. But a matter of fact
they are depressing in all the failures they report.
In the United States, I would strongly recommend contacting
Dr Morton, for an honest opinion from someone, and probably the only doctor who
sees GA1 patients daily, he even has them volunteering at the clinic. For an
open, honest, involved visit, he is invaluable. And where other doctors can
offer no real daily advise on how to deal with specific, perhaps non medical
issues, he usually has seen it, and can advise. His clinic is in the Amish
countryside of PA, and there are lots of things to see, to make it more of a
day trip, including a railroad museum, a model railroad museum, and the arts
and crafts of the Amish (many of whom are devestated by a large occurence of
Inherited diseases, including GA1).
America (United States of)
Dr Holmes Morton, Clinic for Special Children, P.O.Box 128,
Strasburg, PA 17579.(717-687-9407)
New clinic for special children website address, click here
Australia
Dr SEP Hauser,
The Murdoch Institute, 10th floor, Royal Children's Hospital, Flemington Road, Parkville
3052,
Melbourne.
Belgium
B. Francois, Dr L. Willems Institute, B3600
Diepenbeek.
Canada
Lorne E. Seargeant, University of Manitoba, Winnipeg.(820
Sherbrook Street, Winnipeg, Manitoba, Canada R3A 1R9 ??)
Croatia
I.Baric, Department
of pediatrics, University of Zagreb, Croatia.
Denmark
Ernst Christensen Ph.D., University of Copenhagen, dept. of
clinical genetics.
Germany
Dr Georg F. Hoffmann, University of Heidelberg, dept. of
Pediatrics. Im Neuenheimer Feld 150, W-6900, Heidelberg.
Holland
M.Duran, University Children's Hospital, Utrecht.
Hong Kong (China)
Dr C.P.Pang,
department of Chemical Pathology, The Chinese University of Hong Kong, Prince
of Wales Hospital, Shatin
Israel
H. Mandel MD. Rambam Medical Cente , dept. of pediatrics,
Haifa 35254.
Italy
Paola Drigo, MD. University of Padova, department of
Pediatrics.
Japan
Hitoshi Osaka, MD. Urafune Hospital, Yokohama city
University school of Medicine, dept. of pediatrics. 346 Urafune-cho, Minami-ku.
Yokohama 232.
Norway
Ola H. Skjeldal, Rikshospitalet, 0027 Oslo 1, Department of
pediatrics.
Spain
Jaume Campistol, MD. Servicio Neuropediatria, Hospital Sant
Joan de Deu, Barcelona.
Switzerland
A.Superti-Furga,
Department of Pediatrics, university of Zurich, Zurich.
United Kingdom
J.V.Leonard,
Institu of Child Health, London, UK.
Icondata.com, a very medical description of ga1.
Search the National Library of Medicine database, 565 Articles listed for "gluteric aciduria type 1" as per March 2001, most dealing with Neurological diagnosis and radiology interpretations.
Internet Graceful Med, Similar medical articles search engine as above. Try both, you have so much to gain if you find something new, unknown and useful.
USA Today article on the Clinic for Special Children in Strasburg ,PA. Links to other gene therapy articles.
National Organization of rare disorders. (NORD)
Josh's GA1 site A site by a GA1 teenager.
IOGA, International Organization of Glutaric Aciduria.
Tylerforlife.com a site , honoring Tyler, with medical info on "rare" disorders, and opportunities for political action to improve newborn screening, including detecting GA1, at birth! Remember, if newborn screening was better, you would probably not be on the web looking for GA1 info! Check it out!
Parents online magazine's, article about newborn screening (or the above mentioned lack thereof), this article was taken off line after it's time was up, here it is for those who missed it, and need it. It has info, and links about testing.
Make-a-wish foundation, grants wishes to
sick children, great program to go to Disney world, with special perks.
Palladotomy.com a site with very thorough information about this procedure.
Deep brain stimulation, and Palladotomy info.
Wake
Forest University, Parkinson's disease site, the damage found in PD,
is very similar to GA1, and there is a lot more research being done on PD (
read, lot more money spend!) So it is the best hope for our GA1 children.
Sites with useful info regarding special equipment.
WWW.abilities expo.com A yearly USA show where most of the companies listed below participate, and show off their products. Inlcuding wheelchair vans, organizations, art crafts, music, and much, much more. Usually there are coupons in local papers for discount admission, and if you go and sign on a few mailing lists, companies will send you free admission coupons for next years show.
www.rifton.com, Pediatric equipment, for various positioning needs. Check them out!
WWW.sammonspreston.com A large supply of pediatric and adult medical and therapy supplies and equipment.
WWW.americandiscountmed.com THE best source (that I know of) for medical equipment, when you have to pay out of pocket. They can probably get everything sold by the other companies on this page, cheaper!!!
www.eyegaze.com, Company that makes a computer that tracks eye movements to control various computer functions, from simple text, to word processor to operating appliances. Bulky and expensive, but the price and size is dropping, very promising!
RJCOOPER.COM, all kinds of unique special needs equipment and computer programs, in California. He also had (has?) a "camp" where you come and visit and try-before-you-buy any or all of his available items, very neat!
Don Johnston.com Computer
interfaces, switches and other peripherals.
Allison at Playhouse Disney Live! She
loves" Bear in the big blue house"
This is at Dulles town center in Dulles, northern Virginia, USA.
Allison; her late mommy; and little brother in Amsterdam’s Dam square. While having another child, with the GA1 knowledge, is certainly frightening, Her little brother was absolutely the best thing that could happen for her. The enjoyment that she had from watching him, and his knowledge of having a captive audience in his sister, to encourage his antics, was absolutely priceless.
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Allison is my 7 year old daughter, who was doing great,
meeting and exceeding her milestones, and in the 90-100 percentile of her
growth charts, until the age of 7 months. Then she got an ear infection, and in
the middle of the night she had a seizure, at which point we took her to
the hospital. That was the last time she could sit. From there on she lost all
her milestones (head control, motor skills), holding her bottle, and
swallowing, and lost weight and declined in every way. The spasticity and dystonia
took over her body, and rule every aspect of her life today.
Various medications were tried, from Valium to Baklofen to
Klonopin to a few others I forgot, none worked to relieve her tightness.
She had a g-tube installed, and then a g-button, and it is her only source for
food intake today. A little over one year ago she had a baklofen pump
installed, after a trial seemed promising, however the permanent pump has been
a disappointment, and shows little effectiveness. We are considering having it removed,
but are not yet sure.
The Glutaric Aciduria, has done it's brain damage, and is of
very little concern at this point. Her diet consist of Pediasure formula, and
the only medication she is currently on, is oral Klonopin. The main problem to
deal with is caused by the Basal ganglia and other damage in the brain, and the
only thing we can do about it is Physical therapy.
Even if they find a gene therapy tomorrow to repair the
genes that cause GA1, it will be of no help to Allison, or any other child who
has sustained Basal Ganglia damage from it. She and all the other children have
to deal with, and be treated for the Dystonia and Spasticity created by the
atrophy of several parts of the brain. And treatment of these symptoms
seems to be extremely difficult for modern medical science, as I have been told
many times, they know very little about how the brain works.
So our lives revolve around the needs of this child, who
continues to spiral downhill physically, while making strides mentally,
especially with her new found ability to communicates her wants and desires,
and show her knowledge through the use of an eye gaze board. She can now let
others know when and if she wants to be fed, and to answer questions in class,
and actually participate in the curriculum.
Allison now sleeps through the night, she could not (and we
could not) sleep through the night for years. She has gained weight, after it
stayed stagnant for about 3 years. She continues to have problems with
vomiting, and there is no resolve in sight, several medications have failed to
stop, or even reduce the vomiting,
Allison wakes up all twisted in the morning, she gets
formula and medications, vomits, and goes to school. She likes school a lot,
and tries hard. She comes home, takes a nap, and slowly gets more stiff and
irritable as it gets later and she gets sleepy.
What does the future hold? Nobody knows. As she seems to
improve academically and with her ability to communicate, her spasticity and
dystonia and vomiting seem to get worse. This makes envisioning a stable future
at a stable level of ability impossible, and makes any future uncertain. That
is Glutaric Aciduria type 1.
Update, July 2000
Allison has, after a visit to the Kennedy Krieger hospital for Children in Baltimore, started a new medication, called Artane. She is currently on a low dose, which is slowly being increased. The patients, for whom this medication works, are on very high doses, and we are not to expect any visible changes for a while. The drug attempts to achieve chemically, what a pallidotomy does surgically. It tries to lessen, or reduce, the background "noise"in the brain (Basal Ganglia), that causes the spasticity and dystonia, thereby theoretically reducing those symptoms. We will wait and see. Allison is enjoying summer, she likes camp, and she likes going to the pool, she is less enthusiastic about entering the pool, preferring to observe her brother make a fool of himself.
Update, December 2000
There has been no visible benefit from the Artane, and the baclofen pump has been on a steady low output. We are probably going to try to up the pump dosage one more time, to see if there is any benefit, before we have it removed. Klonopin is still the only drug that has any/some effect on her, and if she sleeps late, and gets her morning dosage late, there is a noticable increase in dystonia, and after the medication is in her system, it does work in loosening her. I think we have discussed L-dopa before, but I want to speak about it with her doctor again, it seems worth a trial if it's safe.
The pallidotomy news has not been as good as hoped, or expected. The spasticity/dystonia relief, while present, has not shown to be as extreme as was hoped. the doctors do not yet know why. The patients (2 I believe) who were treated at Emory University are the only ones so far, since that program lost their neuro surgeon. Dr Vitek, the neurologist is still there, and it is his function to determine where the neuro surgeon does the work, but without the neurosurgeon, they are not performing any procedures right now. There have been a few other GA1 patients who had the pallidotomy procedure performed, one in Kansas, and a couple in Canada, and I was told that in both cases, the relief from the spasticity and distonia was less than expected. I guess more research is needed, if this is the to be the answer we are waiting for!
Update, March 2001
Allison had a Nuclear Dye study performed on her implanted Baclofen pump, and it showed that the medication is not leaving the area of the pump. Where exactly it is was not discernable, but it is not reaching the spine. This is odd, because every time the pump has been refilled, it has been empty!! As a result of this, the pump has been shut off, and we are still in the process of deciding whether to replace the pump or just remove it. Due to lack of results at any dose the artane has been discontinued as well. Allison has several issues with her wheelchair, and we will concentrate on that right now, since she is fairly stable, relatively speaking, on other fronts.
Update, October 2001
Allison's Baclofen pump has been removed, without complications!!!! I was amazed what a non-event such a major operation was to her, she weathered it with no problems. During her Hospital stay, we got to touch the visiting Stanley cup. She is off the Artane, and is as before, which was expected since the pump was not doing anything. We do not know why, and probably never will. We had a visit with Dr Morton, and found out several new things. One is that Allison is one of the most affected children Dr Morton has ever seen; she has the least amount of control over virtually any voluntary movement. What we thought was a sadistic sense of humor, is apparently a common personality quirk of these kids, Dr Morton referred to it as inappropriate social responses, like laughing at other people's pain, I figured she has a right to do that, after everything she has gone through!!! The Pallidotomy procedure seems to not (yet) be an answer. Some of the patients have had some relief from the Dystonia, but not as much as expected. And since the lesions were placed exactly where the Doctors wanted them placed, it appears that the cause of the Dystonia is not where they thought it is, and some different logic will have to be applied to figure out where it is originating, and how it can be blocked (where to place the lesion). That is all for now, I was unable to resolve the problem of how to make those reports available, so I removed that link, if you want them you will have to order them, or find them at your local Children's hospital, or similar. She just started using a new Electric wheelchair, with head switches, she likes it!!
Update, July 2002
Allison passed away on May 25, 2002 from an unknown (suspected) viral Illness.
Update, December 2003
I am astonished, and saddened, by all the visitors to the site, from all
over the world.
I Am the Disabled Child
I am the child who cannot talk. You often pity me. I see it in your eyes.
You wonder how much I am aware of...I see that as well. I am aware of
much...whether you are happy or sad or fearful, patient or impatient, full of
love and desire, or if you are just doing your duty by me. I marvel at your
frustration, knowing mine to be far greater, for I cannot express myself nor my
needs as you do. You cannot conceive my isolation, so complete it is at times.
I do not gift you with clever conversation, cute remarks to be laughed over and
repeated. I do not give you answers to your everyday questions, responses over
my well-being, sharing my needs, or comments about the world around me. I do
not give you rewards as defined by the world's stardards...great strides in
development that you can credit yourself. I do not give you understanding as
you know it.
What I give you is so much more valuable...I give you instead opportunities.
Opportunities to discover the depth of your character, not mine; the depth of
your love, your commitment, your patience, your abilities; the opportunity to
explore your spirit more deeply than you imagined possible. I drive you further
than you ever go on your own, working harder, seeking answers to your many
questions, creating questions with no answers. I am the child who cannot talk.
I am the child who cannot walk. The world sometimes seems to pass me by. You see the longing in my eyes to get out of this chair, to run and play like other children. There is much you take for granted. I want the toys on the top shelf. I need to go to the bathroom... oh...I've dropped my spoon again. I am dependent on you in these ways. My gift to you is to make you aware of your great fortune, your healthy back and legs, your ability to do for yourself. Sometimes people appear not to notice me; I always notice them. I feel not so much envy as desire, desire to stand upright, to put one foot in front of the other, to be independent. I give you awareness. I am the child who cannot walk.
I am the child who is mentally impaired. I don't learn easily, if you judge me by the world's measuring stick. What I do know is infinite joy in the simple things. I am not burdened as you are with the strifes and conflicts of a more complicated life. My gift to you is to grant you the freedom to enjoy things as a child, to teach you how much your arms around me mean, to give you love. I give you the gift of simplicity. I am the child who is mentally impaired.
I am the disabled child. I am your teacher. If you allow me, I will teach you what is really important in life. I will give you and teach you unconditional love. I gift you with my innocent trust, my dependency upon you. I teach you of respect for others and their uniqueness. I teach you about the sanctity of life. I teach you about how very precious this life is and about not taking things for granted. I teach you about forgetting your own needs and desires and dreams. I teach you giving. Most of all, I teach you hope and faith. I am the disabled child.
From the Ohio Coalition for the Education of Handicapped Children;
"Education Update," Vol.14, No. 2.
