Midwest Council For Children With Disabilities Raffle Tickett Sales. Your support could enable Maddie to continue horseback riding therapy

2009-08-04T17:36:00.000-07:00

Midwest Council For Children With Disabilities Raffle Ticket Sales

Cash Raffle Grand Prize $1,000, 2^nd prize $500, 3^rd prize $250 and 4^th prize $100

This ticket is $5 each or 5 tickets for $20

The drawing will take place on September 28^th

Your ticket purchase could help to support Maddie and allow her to continue Hippotherapy.

As many of you know my daughter Maddie has Pyridoxine Dependency- a genetic, metabolic seizure disorder. While her seizures are controlled with daily doses of Pyridoxine, this condition can impact her both physically and cognitively. With the generous support of the Midwest Council for Children with Disabilities, Maddie began Hippotherapy (physical therapy on horseback) at the age of 3. Sadly, this support is about to end in September as MCCD’s annual fundraising goal was not met. The impact on so many families of children with special needs supported by MCCD is devastating.

We have one more opportunity to help extend Maddie’s chance to continue riding past September.

Please consider buying a ticket or offering to take a pack of tickets to sell. The number of tickets we sell will have a direct impact on Maddie’s continued support from MCCD.

I will have the tickets available for sale within the next week.

You can learn more about MCCD at www.mccdcares.com

Email me at artsinspire@yahoo.com to purchase tickets or send me a note through Facebook.

Horse show 2nd Place Winner!

2008-08-27T15:07:00.000-07:00

Maddie with her friend Hannah

Love the ponies! So cute!

Maddie's posture is so great when she is on the horse! Go Maddie!

I have been incredibly bad about posting on this blog and now for some reason I have decided to write when I should be getting dinner ready... oh procrastination. Wanted to post a couple of pictures from Maddie's latest Horse Show. This was her 3rd show and she has been doing hippotherapy now for 4 years! It is hard to believe. She was really excited about the show and took 2nd place this year. The previous 2 years she took 1st place. We are so proud of her!

a moment....

2008-08-04T07:07:00.000-07:00

The other day Maddie said

"I am happy that you and Brody and Dad don't have to have seizure medicine"

It was so sweet and it made me sad that she has to.....

Maddie Daily Herald Newspaper Article on Pyridoxine Dependency

2007-09-05T10:37:00.000-07:00

On November 4, 2002, Maddie's story was published in the Daily Herald newspaper. The article was on the front page of the Health and Fitness Section, and was a two page story titled "Life Saving Vitamin, Vitamin B6 is all it takes to stop some seizures,but doctors don't always give it a try."

Life-saving vitamin
BY LORILYN RACKL Daily Herald Health Editor

By the time Madeline McGuire was 8 weeks old, she had already seen
the inside of three emergency rooms.

A small army of doctors had evaluated her. She'd had a battery of
tests and had taken a medicine cabinet's worth of powerful drugs.

None of this brought Madeline's seizures under control.

What this baby from Lindenhurst really needed to save her life sells
for $2.99 at the local Walgreens. You don't even need a prescription
to get it. It's vitamin B6, otherwise known as pyridoxine.

The vast majority of us find all the B6 we need right on our dinner
plates. It's abundant in a plethora of foods, from pork and chicken
to beans and potatoes.

But some people like Madeline are born with a condition that leaves
them needing unusually large doses of B6 just to function. If they
don't get it, their brains rebel by having seizures - potentially
brain-damaging, fatal seizures.

That's why it's crucial to spot these "pyridoxine-dependent" children
right away and get them the B6 their bodies crave. As Madeline's case
and others illustrate, this doesn't always happen. Doctors aren't
always quick to try B6 on seizing infants.

"Most people don't think of it," said Dr. Rita Yadava, a pediatric
neurologist at several suburban hospitals, including Advocate Good
Samaritan Hospital in Downers Grove. "The first thing they think to
do with a child who's seizing is to go to anticonvulsants.

"B6 is something physicians really need to keep at the top of their
minds," Yadava added. "It's so simple. It doesn't require anything
but a vitamin."

This vitamin might be a weapon against other forms of epilepsy,
too. Doctors - especially those in countries that are more aggressive
about using B6 - have reported some success in using high doses of
pyridoxine to combat seizures in those who aren't deemed "dependent"
on the vitamin.

Physicians point out that B6 fails a lot more often than it works.
But because it's generally safe and easy to administer, they say it's
certainly worth giving it a shot in young children whose seizures
can't be traced back to something easily explainable, such as meningitis
or a fever.

"If you can't find an obvious reason for their seizures and they're
not responding to conventional medication, you should think about
treating them with pyridoxine sooner rather than later," said Dr.
Sidney Gospe Jr., head of neurology at Children's Hospital and Regional
Medical Center in Seattle and a leading expert on pyridoxine dependency.

"The condition is clearly rare, but it's something that pediatricians,
neonatologists and neurologists must be thinking about," Gospe added,
"or these kids are going to be misdiagnosed."

Start of a problem

From the very beginning, Madeline McGuire had trouble feeding and
sleeping. She was extremely irritable. Her cry sounded less like a
newborn baby's and more like "animal yelping," said her mother, Colette.

All of these symptoms can be characteristic of pyridoxine dependency,
an unusual type of epilepsy that's inherited when both parents are
carriers of the defective gene or genes.

It occurs in one out of 700,000 children, according to a British
study. German researchers who routinely give pyridoxine to seizing
newborns argue that the condition is more common than that.

When Madeline was barely a week old, her color changed to a grayish-blue.
Her tiny eyes rolled backwards.

Her pediatrician took one look at her and called 911.

An ambulance rushed Madeline to a local hospital. Doctors frantically
tried to stop her seizure, which went on for an excruciating three
hours. Seizures lasting this long are immensely dangerous. They can
cause brain damage or even death.

"They kept throwing in various seizure medications. Nothing was
working," said Jason, Madeline's father. "They finally gave her something
that knocked her out."

A helicopter flew the infant to a children's medical center in Wisconsin,
where she underwent a slew of tests aimed at finding the cause of
her seizure.

In the meantime, Madeline's grandfather was doing a little detective
work of his own. In his Arizona home, the retired physician turned
to page 921 of his copy of the medical book "Conn's Current Therapy."

"He happened to see a short paragraph on pyridoxine dependency,"
Colette said.

The book stated that pyridoxine-dependent seizures don't respond
well to standard anticonvulsive drugs. What these children need are
high doses of vitamin B6.

B6, or pyridoxine, is used by the body to make an important brain
chemical called gamma-aminobutyric acid, or GABA. Without enough GABA,
electrical impulses in the brain can run amok, making people prone
to seizures.

Madeline's grandfather suspected that B6 could very well be the
answer to his granddaughter's problem. He wasn't shy about sharing
his thoughts with Madeline's doctors, who repeatedly dismissed the
theory.

"They said her EEG didn't fit the 'profile' and there was some suggestion
that an infection might have caused her seizure," Colette said. "They
said pyridoxine dependency was really rare, and that wasn't what was
behind it."

No blood or urine test or brain scan can diagnose pyridoxine dependency.
Experts don't even know which gene or genes are responsible for it.

It's true that EEGs, which measure electrical activity in the brain,
are often abnormal in pyridoxine-dependent patients. But the pattern
of these abnormalities can vary widely from person to person, making
it difficult to pinpoint a pyridoxine-dependent "profile."

Purists insist that the only way to truly diagnose the disorder
is to give people B6, either intravenously or orally, and see if their
seizures stop. If they do, you take them off the B6 and wait for the
seizures to return. If reintroducing B6 once again halts the seizures,
you have your diagnosis.

Many parents, however, prefer to skip the last step, not wanting
to risk having the seizures start up again. They simply keep their
children on daily doses of B6 for the rest of their lives.

Madeline would need a trial run of pyridoxine to prove her grandfather
right or wrong, but that was one test doctors weren't willing to do.

After two weeks in the hospital, the McGuires went home with few
answers, a bag full of medication, and the hope that their only child
wouldn't seize again.

Battling for B6

Looking back, Colette thinks it's likely that Madeline started having
seizures before she was even born. She felt the spasms during pregnancy.

"The vast majority of patients present with seizures within the
first couple months of life, sometimes even before birth as a fetus,"
said Gospe, professor of neurology and pediatrics at University of
Washington.

Anticonvulsants such as phenobarbital might rein in the seizures
temporarily, but their success usually is short-lived.

Not long after Madeline left the hospital, problems started again.
During breakfast one morning, the left side of her body started jerking
and twitching.

The McGuires headed back to Wisconsin, where their daughter received
more medicine, more tests, but still no B6.

Then the seizures started picking up their pace. She'd have one
every other day. Then every day. Then twice a day.

On June 1 of last year, when Madeline was less than 2 months old,
she suffered a dozen seizures in the space of 24 hours.

Doctors finally agreed to put the grandfather's theory to the test.
They pumped in 50 milligrams of B6 through Madeline's IV.

For some pyridoxine-dependent children, dramatic results can be
seen within minutes of getting high doses B6. Their seizures stop;
their EEGs normalize. Other children who take B6 orally instead of
intravenously might have to wait a few weeks before anything happens.

In rare cases, particularly when the B6 is given intravenously,
the initial dose of the vitamin can cause the body to essentially
shut down. Blood pressure plummets. Breathing becomes difficult. This
happened to Madeline, but doctors were able to stabilize her.

The McGuires took their daughter home and continued to give her
daily doses of B6 through her feeding tube. In less than a month,
she was like a different person, Colette said.

"She stopped being irritable. She was able to sleep. We got the
feeding tube out and she was able to eat," she said. "She literally
came to life."

And since that first dose of B6 some 16 months ago, Madeline hasn't
had a single seizure.

Some doctors don't even try it

The unfortunate reality is that parents sometimes do a better job
than physicians when it comes to spotting pyridoxine dependency, said
Dr. Christine Parker.

She should know. The Tennessee woman is both a doctor and the mother
of a son and daughter with the condition. The road leading to her
children's diagnosis was a long and torturous one. That's why she
started a Web site to publicize the disorder.

"I've had some parents tell me that if they didn't come on the Web,
their kids wouldn't have been diagnosed," Parker said.

That wasn't the case for Jenni Zahm of Pingree Grove. Her twin boys'
Chicago neurologist suggested giving B6 a go when laboratory tests
and brain scans failed to explain their seizures.

"I looked at him like he had green hair when he said, 'Let's try
some B6,'" the Kane County woman said.

Within a couple days, her son Daniel's seizures stopped. The B6
also helped her son Jonah, although not as dramatically.

"I've never heard of another story where the doctor caught on to
pyridoxine dependency so quickly," Zahm said.

None of this surprises Dr. Barry Tharp, head of pediatric neurology
at UC Davis Medical Center in Sacramento, Calif.

"I think many physicians, including child neurologists, don't think
about it very often," Tharp said. "I see lots of kids that are referred
to me for intractable seizures who've never been given a (B6) trial."

When this happens, Tharp typically puts the child on oral pyridoxine
for two or three weeks to see if it helps.

It usually doesn't.

"I still think it's worth a try," Tharp said. "It can't hurt."

Disappointing results are much of the reason Peter Kellaway questions
whether pyridoxine dependency even exists. Kellaway is a professor
of neurology and neuroscience at Baylor College of Medicine in Houston.

"I've been 50 years in the business. I've had a lot of experience
giving it to kids and not getting any kind of response," Kellaway
said. "I've always taught my residents in neurophysiology that as
far as I know, there's no such thing."

Kellaway admits, however, that the children he saw might not have
been getting high enough doses to make a difference.

There's plenty of debate about how much B6 is enough - and how much
is too much. Precise dosages get computed based on a patient's weight.

Too much B6 can wreak havoc on the peripheral nervous system, causing
numbness and weakness in the arms and legs. It's called neuropathy.
This side effect crops up more often in people taking megadoses of
B6 for things such as premenstrual syndrome and autism. It shouldn't
scare someone away from trying pyridoxine to combat seizures, Gospe
said.

"If you wanted to test the hypothesis and treat someone for six
weeks with daily pharmacologic doses of pyridoxine, the odds of them
developing neuropathy over that six-week period would be next to nothing,"
Gospe said.

"There's only been one reported case of a patient with pyridoxine-dependent
seizures who developed neuropathy," he added, "and that patient was
taking much higher doses than I would ever recommend."

Helping other seizures

In other parts of the world, doctors break out the B6 much faster
than they do in this country.

"Japan has been very aggressive in using pyridoxine for a variety
of infantile and juvenile seizures," Gospe said. "Many times, they
add it as a second or third drug. The pyridoxine isn't the magic bullet,
but it's one of the answers."

Japanese doctors are especially willing to rely on B6 for so-called
infantile spasms, which are clusters of seizures that usually start
between the ages of 3 and 6 months. They'll use pyridoxine as a first-line
treatment for this condition. It reportedly works about one out of
10 times in these difficult to control spasms.

"I've been impressed enough by the Japanese literature that I try
B6 in kids with infantile spasms for several days," said Dr. Kent
Kelley, a pediatric epileptologist at Children's Memorial Hospital
in Chicago. "It's well worth trying, given the other medicines we
have."

Pyridoxine also has shown promise in one of the most severe forms
of childhood epilepsy known as Lennox-Gastaut syndrome, said Dr. Kurt
Hecox, director of the pediatric epilepsy center at University of
Chicago Hospitals.

"There have been some studies where B6 was administered in high
doses and several of the children had a decrease in the frequency
of their seizures," Hecox said. "They didn't have the dramatic relief
that you see in infants, but they did have some seizure relief."

So should we be trying pyridoxine in every child with epilepsy?

"That's certainly a suggestion that some neurologists are now making,"
said Gospe, who doesn't necessarily agree with that idea.

He thinks B6 holds the most promise in children less than 3 years
old, but he "wouldn't object to somebody trying it in an older patient
to see if it had some benefit.

"You should have your answer relatively quickly," Gospe added.

'Moving in the right direction'

Madeline McGuire takes a whopping 250 milligrams of B6 each day,
usually mixed into her applesauce or crushed bananas.

While her seizures have stopped, she's lagging behind when it comes
to certain milestones, like crawling and talking. This isn't unusual
in children with pyridoxine dependency, doctors said, especially if
the disorder isn't caught right away.

"We feel that the sooner we're treating it appropriately, the better
the potential developmental outcome," said Kelley of Children's Memorial.

Madeline got off to a rocky start, but "she's moving in the right
direction," Jason said.

"She's kept growing and learning ever since she got the B6," Colette
added.

And the McGuires don't doubt that she got the B6 thanks to her grandfather's
persistence.

"I'm glad they finally listened to him," Colette said. "I just wish
they'd listened to him from Day One."

"My feeling is: try it," Jason said. "You have nothing to lose and
everything - possibly your child's life - to gain."

Sunday, February 1, 2004 1:30 PM CST

Jason emailed WGN news to share Maddie's story. WGN called the next day to say they were interested in doing a Medical Watch Story on Maddie. We were so excited about the opportunity to share our experience and try to help educate others about Pyridoxine Dependent Epilepsy. The news story aired on Monday, January 12th. The following is a summary of the news segment written by WGN.

Vitamin B6

This vitamin saved a dying baby's life and her family figured it out by
looking in the encyclopedia.
A rare disorder and an easy treatment. The latest discovery that could
help children with seizures.
When Madeline first came home from the hospital it was a dream come
true. But in the first day, her parents knew something was wrong.
"She cried an awful lot, very irritable."
And she wouldn't eat.
"After each feeding she would just crunch in extreme pain."
By day eight, Madeline was in crisis. She had lost weight every day
since her birth. She was rushed to the hospital.
Colette McGuire, Madeline's mother remembers, "She was turning like a
grayish blue color and her eyes were starting to go back in her head and
her breathing was labored." Madeline's father, Jason, recollects,
"There were 10 nurses and physicians frantically working on her to stabilize
her. They intubated her to assist her breathing and um things looked
very bleak at that point and she continued to seize uncontrollably. "
No medication could stop the seizures so Madeline was put in a drug
induced coma. Doctors had no clue what to do until Madeline's grandfather,
and also a physician, looked in this book. The 2000 edition of Conn's
Current Therapy
The section on childhood seizures had a small paragraph on pyridoxine
dependency and it said there that patients won't respond to normal
seizure medication and that they need B6.
But the diagnosis was so rare doctors in Milwaukee were reluctant to
accept it. That's when the McGuires came to Children's Memorial Hospital
in Chicago where they gave Maddy B6 and confirmed the diagnosis --
pyridoxine dependency, where the brain is overly excited because it's out
of balance without B6.
Dr. Kent Kelly, assistant professor of pediatrics and neurology
explains, "There is an enzyme in the brain that requires B6 as a cofactor to
produce its proper action. So increase in the B6 allows it to work
better. So it improves the function."
And B6 has continued to help. No seizures. For this family that's
something to celebrate.
It's a genetic condition. In some cases families don't find out about
it until they've lost one child and a second one is born suffering with
seizures.
Once a family knows there is a potential problem, the mother can begin
taking B6 during pregnancy and just give the vitamin to her newborn to
prevent the problem.

For more information:
Pyridoxine Dependent Registry
Support Group
Epilepsy Foundation

Horse Show

2007-08-21T08:41:00.001-07:00

Maddie and Cinnamon....
Maddie participated in a horse show on Sunday that was sponsored by the stables where she rides. We all went to see her ride including grandma Nancy. Her bus driver from summer school showed up as well with her daughter. I had told her a month ago and she remembered and came. It was so sweet. Maddie's posture looks so good when she is riding. She has been riding for 3 years now. Maddie took first place for the second year in a row! We were so excited and so proud of her!

Maddie proudly wears her ribbon and medal